#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
PRAMEF10	343071	broad.mit.edu	37	1	12955444	12955444	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:12955444G>T	ENST00000235347.4	-	2	314	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	79					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.Q79K(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		AGGACAGCTTGCAAGGTCTCC	0.592																																						uc001auo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CAA>AAA		PRAME family member 10							59.0	56.0	57.0					1																	12955444		2087	3794	5881	SO:0001583	missense	343071							g.chr1:12955444G>T	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.235C>A	1.37:g.12955444G>T	ENSP00000235347:p.Gln79Lys						p.Q79K	NM_001039361	NP_001034450	O60809	PRA10_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	308	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	79					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.235C>A	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.894	-0.724640	0.03158	.	.	ENSG00000187545	ENST00000235347	T	0.05855	3.38	1.99	-3.98	0.04082	.	0.763397	0.11941	N	0.514648	T	0.03011	0.0089	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46428	-0.9192	10	0.12766	T	0.61	.	3.8975	0.09146	0.1501:0.0:0.2588:0.5911	.	79	O60809	PRA10_HUMAN	K	79	ENSP00000235347:Q79K	ENSP00000235347:Q79K	Q	-	1	0	PRAMEF10	12878031	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.890000	0.04140	-1.035000	0.03291	-0.498000	0.04607	CAA		PASS	0.592	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		16	29	16	29	---	---	---	---
ALDH4A1	8659	broad.mit.edu	37	1	19203974	19203974	+	Missense_Mutation	SNP	T	T	C	rs145243354	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:19203974T>C	ENST00000375341.3	-	10	1330	c.1073A>G	c.(1072-1074)cAc>cGc	p.H358R	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.H298R|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.H358R|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.H358R	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	358					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.H358R(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGCGAGTGCGGCACGTA	0.692																																						uc001bbb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1072-1074)CAC>CGC		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)	T	ARG/HIS,ARG/HIS,ARG/HIS	0,4396		0,0,2198	27.0	27.0	27.0		893,1073,1073	-7.7	0.0	1	dbSNP_134	27	5,8593		0,5,4294	yes	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	29,29,29	0,5,6492	CC,CT,TT		0.0582,0.0,0.0385	benign,benign,benign	298/504,358/564,358/564	19203974	5,12989	2198	4299	6497	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19203974T>C	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1073A>G	1.37:g.19203974T>C	ENSP00000364490:p.His358Arg					ALDH4A1_uc010ocu.1_Missense_Mutation_p.H298R|ALDH4A1_uc001bbc.2_Missense_Mutation_p.H358R	p.H358R	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1349	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	358					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1073A>G	CCDS188.1	.	.	.	.	.	.	.	.	.	.	T	2.171	-0.389954	0.04932	0.0	5.82E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.39	-7.7	0.01259	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	1.084020	0.07127	N	0.844936	T	0.05777	0.0151	N	0.00453	-1.485	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45977	-0.9224	10	0.24483	T	0.36	0.3646	9.9702	0.41749	0.0:0.206:0.1027:0.6913	.	358	P30038	AL4A1_HUMAN	R	358;358;358;298	ENSP00000290597:H358R;ENSP00000364490:H358R;ENSP00000446071:H358R;ENSP00000442988:H298R	ENSP00000290597:H358R	H	-	2	0	ALDH4A1	19076561	0.005000	0.15991	0.000000	0.03702	0.085000	0.17905	0.021000	0.13489	-1.441000	0.01958	-0.441000	0.05720	CAC		PASS	0.692	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			8	9	8	9	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22206613	22206613	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:22206613T>C	ENST00000374695.3	-	17	2409	c.2330A>G	c.(2329-2331)tAt>tGt	p.Y777C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	777	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.Y777C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCAGTGGCCATACACAGGGTC	0.552																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2329-2331)TAT>TGT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	52.0	51.0					1																	22206613		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22206613T>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2330A>G	1.37:g.22206613T>C	ENSP00000363827:p.Tyr777Cys					HSPG2_uc009vqd.2_Missense_Mutation_p.Y778C	p.Y777C	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	17	2370	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	777			Laminin EGF-like 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2330A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021258	0.54576	.	.	ENSG00000142798	ENST00000374695	T	0.61392	0.11	5.38	4.18	0.49190	EGF-like, laminin (3);	0.000000	0.36234	N	0.002717	T	0.67822	0.2934	M	0.66297	2.02	0.31418	N	0.674689	D	0.89917	1.0	D	0.91635	0.999	T	0.70479	-0.4860	10	0.54805	T	0.06	.	4.2277	0.10589	0.1777:0.0923:0.0:0.7301	.	777	P98160	PGBM_HUMAN	C	777	ENSP00000363827:Y777C	ENSP00000363827:Y777C	Y	-	2	0	HSPG2	22079200	0.951000	0.32395	1.000000	0.80357	0.995000	0.86356	1.420000	0.34804	2.044000	0.60594	0.533000	0.62120	TAT		PASS	0.552	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		14	20	14	20	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28209122	28209122	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:28209122T>C	ENST00000373921.3	+	4	1291	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.S300S	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	429	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S429S(1)									TCCCTGGCAGTTTCGTGGAGG	0.607																																						uc001bpc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1285-1287)AGT>AGC		basement membrane-induced gene isoform 3							44.0	50.0	48.0					1																	28209122		2091	4216	6307	SO:0001819	synonymous_variant	9473				cell adhesion|inflammatory response			g.chr1:28209122T>C	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1287T>C	1.37:g.28209122T>C						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Silent_p.S233S|C1orf38_uc010ofo.1_Silent_p.S300S	p.S429S	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	1315	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	429			CABIT 2.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.1287T>C	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	T	5.754	0.323491	0.10900	.	.	ENSG00000130775	ENST00000456990	.	.	.	5.22	1.19	0.21007	.	.	.	.	.	T	0.57636	0.2067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51419	-0.8708	4	.	.	.	-1.9799	9.3684	0.38239	0.0:0.6292:0.0:0.3708	.	.	.	.	A	177	.	.	V	+	2	0	C1orf38	28081709	0.982000	0.34865	0.107000	0.21349	0.637000	0.38172	0.432000	0.21461	0.313000	0.23062	-0.239000	0.12128	GTT		PASS	0.607	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		22	22	22	22	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34191058	34191058	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:34191058G>T	ENST00000373381.4	-	17	2763	c.2587C>A	c.(2587-2589)Cac>Aac	p.H863N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	823						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H823N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGTCCCGTGGTAAACCCCG	0.542																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2467-2469)CAC>AAC		CUB and Sushi multiple domains 2							116.0	115.0	116.0					1																	34191058		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34191058G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2587C>A	1.37:g.34191058G>T	ENSP00000362479:p.His863Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.H863N	p.H823N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			17	2496	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	823			CUB 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2467C>A		.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997537	0.02145	.	.	ENSG00000121904	ENST00000373381	T	0.59364	0.27	5.89	3.9	0.45041	CUB (5);	0.187163	0.47455	D	0.000229	T	0.29423	0.0733	N	0.04090	-0.28	0.80722	D	1	P;B	0.37158	0.585;0.002	B;B	0.36766	0.232;0.018	T	0.14144	-1.0483	10	0.08599	T	0.76	.	9.5777	0.39468	0.0:0.3022:0.5712:0.1266	.	823;863	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	863	ENSP00000362479:H863N	ENSP00000241312:H823N	H	-	1	0	CSMD2	33963645	1.000000	0.71417	0.992000	0.48379	0.005000	0.04900	5.602000	0.67612	1.480000	0.48289	-0.181000	0.13052	CAC		PASS	0.542	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	21	15	21	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39783071	39783071	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:39783071C>T	ENST00000372915.3	+	28	3876	c.3789C>T	c.(3787-3789)ctC>ctT	p.L1263L	MACF1_ENST00000545844.1_Silent_p.L1263L|MACF1_ENST00000567887.1_Silent_p.L1295L|MACF1_ENST00000361689.2_Silent_p.L1263L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Silent_p.L1258L|MACF1_ENST00000539005.1_Silent_p.L1263L|MACF1_ENST00000317713.7_Silent_p.L1263L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1263					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L1263L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGCCCAGCTCGAGATTCGGT	0.468																																						uc010ois.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3787-3789)CTC>CTT		microfilament and actin filament cross-linker							67.0	67.0	67.0					1																	39783071		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39783071C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3789C>T	1.37:g.39783071C>T						MACF1_uc001cda.1_Silent_p.L1171L|MACF1_uc001cdc.1_Silent_p.L350L|MACF1_uc009vvq.1_Silent_p.L320L|MACF1_uc001cdb.1_Silent_p.L350L	p.L1263L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		30	3994	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1263			LRR 8.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3789C>T		.	.	.	.	.	.	.	.	.	.	C	0.507	-0.868406	0.02590	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.75	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0665	0.06217	0.1948:0.1136:0.3479:0.3437	.	.	.	.	X	397	.	.	R	+	1	2	MACF1	39555658	0.000000	0.05858	0.069000	0.20011	0.230000	0.25150	-2.895000	0.00707	-3.169000	0.00225	-1.287000	0.01368	CGA		PASS	0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	36	6	36	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437888	44437888	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:44437888C>T	ENST00000255108.3	+	5	1399	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	DPH2_ENST00000396758.2_Silent_p.D181D|ATP6V0B_ENST00000472174.2_5'Flank|ATP6V0B_ENST00000236067.4_5'Flank|ATP6V0B_ENST00000471859.2_5'Flank|DPH2_ENST00000412950.2_Silent_p.D274D|ATP6V0B_ENST00000532642.1_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	409					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.D409D(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AAACCCCAGACGTGTCACTCA	0.577																																						uc001ckz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1225-1227)GAC>GAT		diphthamide biosynthesis protein 2 isoform a							119.0	115.0	117.0					1																	44437888		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437888C>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1227C>T	1.37:g.44437888C>T						DPH2_uc001cla.2_Silent_p.D181D|DPH2_uc010okk.1_Silent_p.D274D|DPH2_uc001clb.2_Silent_p.D333D|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank	p.D409D	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			5	1422	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	409					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.1227C>T	CCDS504.1																																																																																				PASS	0.577	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		10	63	10	63	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52705178	52705178	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:52705178G>A	ENST00000371591.1	+	3	2220	c.2089G>A	c.(2089-2091)Gta>Ata	p.V697I	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.V697I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V697I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	697					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.V697I(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCCAGTATGGGTACCGGATTC	0.478																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(2089-2091)GTA>ATA		zinc finger, FYVE domain containing 9 isoform 3							70.0	68.0	69.0					1																	52705178		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52705178G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2089G>A	1.37:g.52705178G>A	ENSP00000360647:p.Val697Ile					ZFYVE9_uc001ctn.2_Missense_Mutation_p.V697I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.V697I	p.V697I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	2261	+			697					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2089G>A	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413445	0.62511	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.7	4.7	0.59300	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.52613	0.1745	L	0.28776	0.89	0.80722	D	1	B;P;D	0.89917	0.34;0.95;1.0	B;D;D	0.83275	0.234;0.968;0.996	T	0.44406	-0.9330	10	0.27082	T	0.32	.	18.2001	0.89836	0.0:0.0:1.0:0.0	.	697;697;697	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	I	697	ENSP00000349737:V697I;ENSP00000355358:V697I;ENSP00000287727:V697I;ENSP00000360647:V697I	ENSP00000287727:V697I	V	+	1	0	ZFYVE9	52477766	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.189000	0.94928	2.597000	0.87782	0.462000	0.41574	GTA		PASS	0.478	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		29	27	29	27	---	---	---	---
DIRAS3	9077	broad.mit.edu	37	1	68512774	68512774	+	Silent	SNP	G	G	A	rs554165010		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:68512774G>A	ENST00000370981.1	-	4	843	c.207C>T	c.(205-207)acC>acT	p.T69T	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.T69T			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	69					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T69T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTTTCAATGGTCGGCAGGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19458	0.0		0.0	False		,,,				2504	0.0					uc001ded.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(205-207)ACC>ACT		DIRAS family, GTP-binding RAS-like 3							115.0	116.0	115.0					1																	68512774		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512774G>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.207C>T	1.37:g.68512774G>A						uc001deb.1_Intron|uc001dec.1_Intron	p.T69T	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	502	-			69			Effector region (Potential).		B3KMP3	Silent	SNP	ENST00000370981.1	37	c.207C>T	CCDS641.1																																																																																				PASS	0.602	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		16	99	16	99	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70587560	70587560	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:70587560T>C	ENST00000035383.5	+	25	4634	c.4604T>C	c.(4603-4605)cTt>cCt	p.L1535P	LRRC7_ENST00000310961.5_Missense_Mutation_p.L1493P|LRRC7_ENST00000415775.2_Missense_Mutation_p.L819P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1535	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L1535P(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						CAACGTGAGCTTACTGTCTAA	0.328																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4603-4605)CTT>CCT		leucine rich repeat containing 7							79.0	81.0	80.0					1																	70587560		2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70587560T>C		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.4604T>C	1.37:g.70587560T>C	ENSP00000035383:p.Leu1535Pro					LRRC7_uc009wbg.2_Missense_Mutation_p.L819P|LRRC7_uc001deq.2_Missense_Mutation_p.L729P	p.L1535P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			25	4634	+			1535			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4604T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840777	0.51057	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39406	1.08;1.12;2.24	5.26	5.26	0.73747	PDZ/DHR/GLGF (2);	0.226625	0.38959	N	0.001514	T	0.47488	0.1448	L	0.49778	1.585	0.80722	D	1	D;D;D	0.61697	0.988;0.99;0.969	P;P;P	0.62382	0.83;0.901;0.483	T	0.50767	-0.8789	10	0.62326	D	0.03	.	15.4676	0.75412	0.0:0.0:0.0:1.0	.	819;1488;1535	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	P	1493;1535;819;1311	ENSP00000309245:L1493P;ENSP00000035383:L1535P;ENSP00000394867:L819P	ENSP00000035383:L1535P	L	+	2	0	LRRC7	70360148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.353000	0.59411	2.119000	0.64992	0.533000	0.62120	CTT		PASS	0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		24	38	24	38	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038743	75038743	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:75038743G>A	ENST00000326665.5	-	14	2869	c.2651C>T	c.(2650-2652)aCa>aTa	p.T884I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		884	Glu-rich.							p.T884I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAAGCACTGTGAGCATCAA	0.512																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2650-2652)ACA>ATA		hypothetical protein LOC127254							243.0	241.0	242.0					1																	75038743		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038743G>A																												ENST00000326665.5:c.2651C>T	1.37:g.75038743G>A	ENSP00000322609:p.Thr884Ile						p.T884I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2870	-			884			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2651C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609576	0.28623	.	.	ENSG00000178965	ENST00000326665	T	0.16457	2.34	5.37	-0.722	0.11184	.	.	.	.	.	T	0.03305	0.0096	N	0.22421	0.69	0.09310	N	1	B	0.27068	0.167	B	0.24394	0.053	T	0.42447	-0.9451	9	0.48119	T	0.1	-3.1817	6.5225	0.22283	0.2607:0.2378:0.5015:0.0	.	884	Q5RHP9	CA173_HUMAN	I	884	ENSP00000322609:T884I	ENSP00000322609:T884I	T	-	2	0	C1orf173	74811331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.034000	0.13776	0.254000	0.21573	-0.244000	0.11960	ACA		PASS	0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			92	154	92	154	---	---	---	---
GBP2	2634	broad.mit.edu	37	1	89578310	89578310	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:89578310C>G	ENST00000370466.3	-	8	1475	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	403					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D403H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ATGCAACAATCTGATGATGCT	0.423																																						uc001dmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)GAT>CAT		guanylate binding protein 2,							130.0	123.0	125.0					1																	89578310		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89578310C>G	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1207G>C	1.37:g.89578310C>G	ENSP00000359497:p.Asp403His					GBP2_uc001dmy.1_RNA	p.D403H	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	8	1478	-		Lung NSC(277;0.0908)	403					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1207G>C	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991285	0.18966	.	.	ENSG00000162645	ENST00000370466	T	0.02103	4.45	3.44	1.26	0.21427	Guanylate-binding protein, C-terminal (3);	1.015450	0.07915	U	0.974885	T	0.01287	0.0042	M	0.66506	2.035	0.09310	N	1	B	0.24675	0.109	B	0.29524	0.103	T	0.43956	-0.9359	10	0.49607	T	0.09	-8.8259	5.933	0.19150	0.1946:0.4559:0.3495:0.0	.	403	P32456	GBP2_HUMAN	H	403	ENSP00000359497:D403H	ENSP00000359497:D403H	D	-	1	0	GBP2	89350898	0.000000	0.05858	0.025000	0.17156	0.219000	0.24729	-0.689000	0.05144	0.722000	0.32252	0.563000	0.77884	GAT		PASS	0.423	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		45	74	45	74	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103548491	103548491	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:103548491G>T	ENST00000370096.3	-	2	456	c.144C>A	c.(142-144)caC>caA	p.H48Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.H48Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.H48Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.H48Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	48					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.H48Q(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGAGAATTGTGAAAATCTA	0.348																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(142-144)CAC>CAA		alpha 1 type XI collagen isoform A							99.0	100.0	99.0					1																	103548491		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548491G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.144C>A	1.37:g.103548491G>T	ENSP00000359114:p.His48Gln					COL11A1_uc001dum.2_Missense_Mutation_p.H48Q|COL11A1_uc001dun.2_Missense_Mutation_p.H48Q|COL11A1_uc009weh.2_Missense_Mutation_p.H48Q	p.H48Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	462	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	48			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.144C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455148	0.26161	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.7	3.49	0.39957	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.169796	0.53938	D	0.000056	T	0.07728	0.0194	N	0.17564	0.495	0.36381	D	0.861892	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.10450	0.002;0.005;0.005;0.002	T	0.11767	-1.0574	10	0.20519	T	0.43	.	11.7423	0.51801	0.2401:0.0:0.7599:0.0	.	48;48;48;48	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	Q	48	ENSP00000359114:H48Q;ENSP00000351163:H48Q;ENSP00000302551:H48Q;ENSP00000426533:H48Q;ENSP00000408640:H48Q	ENSP00000302551:H48Q	H	-	3	2	COL11A1	103321079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.753000	0.38359	1.408000	0.46895	0.467000	0.42956	CAC		PASS	0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		22	49	22	49	---	---	---	---
NBPF7	343505	broad.mit.edu	37	1	120384085	120384085	+	IGR	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:120384085G>C								REG4 (29802 upstream) : ADAM30 (52070 downstream)														p.S159S(1)									CCTGCCCCTGGGAGTTGTCAT	0.577																																						uc010oxk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)TCC>TCG		hypothetical protein LOC343505							105.0	118.0	113.0					1																	120384085		2201	4300	6501	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120384085G>C																													1.37:g.120384085G>C							p.S159S	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	3	1098	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	159						Silent	SNP		37	c.477C>G																																																																																				0	PASS	0.577									36	79	36	79	---	---	---	---
FDPS	2224	broad.mit.edu	37	1	155288667	155288667	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:155288667A>T	ENST00000356657.6	+	8	956	c.794A>T	c.(793-795)tAc>tTc	p.Y265F	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.Y199F|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.Y265F|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	265					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y265F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATTGTCAAGTACAAGACAGCT	0.522																																						uc001fkc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)TAC>TTC		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						157.0	148.0	151.0					1																	155288667		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155288667A>T	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.794A>T	1.37:g.155288667A>T	ENSP00000349078:p.Tyr265Phe					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y199F|FDPS_uc001fke.2_Missense_Mutation_p.Y265F|FDPS_uc001fkf.2_Missense_Mutation_p.Y199F|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	p.Y265F	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	1013	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		265					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.794A>T	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894185	0.72639	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.64260	-0.09;-0.09;-0.09	4.18	3.02	0.34903	Terpenoid synthase (2);	0.178185	0.27442	N	0.019341	T	0.47210	0.1433	M	0.64404	1.975	0.42139	D	0.991503	P	0.39060	0.657	B	0.43052	0.406	T	0.50742	-0.8792	10	0.51188	T	0.08	-8.4485	8.3016	0.32017	0.823:0.0:0.0:0.177	.	265	P14324	FPPS_HUMAN	F	199;265;265	ENSP00000391755:Y199F;ENSP00000357340:Y265F;ENSP00000349078:Y265F	ENSP00000349078:Y265F	Y	+	2	0	FDPS	153555291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.102000	0.77005	0.904000	0.36572	0.533000	0.62120	TAC		PASS	0.522	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		48	122	48	122	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156917607	156917607	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:156917607C>A	ENST00000361409.2	-	24	2917	c.2175G>T	c.(2173-2175)gtG>gtT	p.V725V	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Silent_p.V141V|ARHGEF11_ENST00000368194.3_Silent_p.V765V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	725					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V765V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTAGCCCAGCCACCACATCCT	0.592																																						uc001fqo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2173-2175)GTG>GTT		Rho guanine nucleotide exchange factor (GEF) 11							65.0	53.0	57.0					1																	156917607		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917607C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2175G>T	1.37:g.156917607C>A						ARHGEF11_uc010phu.1_Silent_p.V141V|ARHGEF11_uc001fqn.2_Silent_p.V765V	p.V725V	NM_014784	NP_055599	O15085	ARHGB_HUMAN			24	3215	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		725					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.2175G>T	CCDS1162.1																																																																																				PASS	0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		3	36	3	36	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157514128	157514128	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:157514128C>A	ENST00000361835.3	-	5	925	c.768G>T	c.(766-768)ggG>ggT	p.G256G	FCRL5_ENST00000368190.3_Silent_p.G256G|FCRL5_ENST00000356953.4_Silent_p.G256G|FCRL5_ENST00000368191.3_Silent_p.G171G|FCRL5_ENST00000368189.3_Silent_p.G256G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	256	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.G256G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTAGAACCCTGAATCTT	0.512																																						uc001fqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(766-768)GGG>GGT		Fc receptor-like 5							154.0	157.0	156.0					1																	157514128		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514128C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.768G>T	1.37:g.157514128C>A						FCRL5_uc009wsm.2_Silent_p.G256G|FCRL5_uc010phv.1_Silent_p.G256G|FCRL5_uc010phw.1_Silent_p.G171G|FCRL5_uc001fqv.1_Silent_p.G256G|FCRL5_uc010phx.1_Silent_p.G7G	p.G256G	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	926	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	256			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.768G>T	CCDS1165.1																																																																																				PASS	0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		71	157	71	157	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158325720	158325720	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:158325720G>A	ENST00000368167.3	+	4	968	c.729G>A	c.(727-729)atG>atA	p.M243I	CD1E_ENST00000368155.3_Missense_Mutation_p.M153I|CD1E_ENST00000452291.2_Missense_Mutation_p.M54I|CD1E_ENST00000368161.3_Missense_Mutation_p.M243I|CD1E_ENST00000434258.1_Missense_Mutation_p.M241I|CD1E_ENST00000368165.3_Missense_Mutation_p.M153I|CD1E_ENST00000368157.1_Missense_Mutation_p.M54I|CD1E_ENST00000368154.1_Missense_Mutation_p.M54I|CD1E_ENST00000368164.3_Missense_Mutation_p.M54I|CD1E_ENST00000444681.2_Missense_Mutation_p.M144I|CD1E_ENST00000368166.3_Missense_Mutation_p.M54I|CD1E_ENST00000368160.3_Missense_Mutation_p.M243I|CD1E_ENST00000368163.3_Missense_Mutation_p.M243I|CD1E_ENST00000368156.1_Missense_Mutation_p.M153I	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	243	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.M243I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTGGGTGATGTGGATGCGGG	0.637																																						uc001fse.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(727-729)ATG>ATA		CD1E antigen isoform a precursor							89.0	87.0	88.0					1																	158325720		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325720G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.729G>A	1.37:g.158325720G>A	ENSP00000357149:p.Met243Ile					CD1E_uc010pid.1_Missense_Mutation_p.M241I|CD1E_uc010pie.1_Missense_Mutation_p.M144I|CD1E_uc010pif.1_Missense_Mutation_p.M54I|CD1E_uc001fsd.2_Missense_Mutation_p.M243I|CD1E_uc001fsk.2_Missense_Mutation_p.M153I|CD1E_uc001fsj.2_Missense_Mutation_p.M153I|CD1E_uc001fsc.2_Missense_Mutation_p.M54I|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.M54I|CD1E_uc001fsf.2_Missense_Mutation_p.M243I|CD1E_uc001fry.2_Missense_Mutation_p.M243I|CD1E_uc001fsg.2_Missense_Mutation_p.M54I|CD1E_uc001fsh.2_Missense_Mutation_p.M54I|CD1E_uc001fsi.2_Missense_Mutation_p.M243I|CD1E_uc009wsv.2_Missense_Mutation_p.M144I|CD1E_uc001frz.2_Missense_Mutation_p.M153I|CD1E_uc009wsw.2_Missense_Mutation_p.M1I	p.M243I	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	968	+	all_hematologic(112;0.0378)		243			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.729G>A	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.160850|3.160850	0.57368|0.57368	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154|ENST00000368162	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.02787|.	4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16;4.16|.	4.83|4.83	2.87|2.87	0.33458|0.33458	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.369663|.	0.23752|.	N|.	0.044909|.	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.61036|0.61036	1.89|1.89	0.24579|0.24579	N|N	0.993888|0.993888	B;P;P;P;P;B;P;P;B;P;P;D;P;P;P;P|.	0.71674|.	0.358;0.809;0.809;0.809;0.905;0.079;0.831;0.596;0.198;0.619;0.809;0.998;0.596;0.728;0.506;0.593|.	P;P;P;P;P;B;P;B;B;B;P;D;B;P;B;B|.	0.67548|.	0.726;0.485;0.587;0.465;0.587;0.163;0.758;0.121;0.236;0.434;0.465;0.952;0.25;0.447;0.163;0.383|.	T|T	0.14783|0.14783	-1.0460|-1.0460	10|5	0.62326|.	D|.	0.03|.	-13.6127|-13.6127	5.1814|5.1814	0.15161|0.15161	0.1042:0.0:0.6907:0.2051|0.1042:0.0:0.6907:0.2051	.|.	54;144;241;243;144;153;153;54;54;243;243;243;54;54;153;243|.	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4|.	.;.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.|.	I|M	241;144;243;54;153;54;243;54;54;243;243;153;153;54|13	ENSP00000401957:M241I;ENSP00000402906:M144I;ENSP00000357149:M243I;ENSP00000416228:M54I;ENSP00000357147:M153I;ENSP00000357148:M54I;ENSP00000357145:M243I;ENSP00000357146:M54I;ENSP00000357139:M54I;ENSP00000357142:M243I;ENSP00000357143:M243I;ENSP00000357138:M153I;ENSP00000357137:M153I;ENSP00000357136:M54I|.	ENSP00000357136:M54I|.	M|V	+|+	3|1	0|0	CD1E|CD1E	156592344|156592344	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.198000|1.198000	0.32223|0.32223	2.518000|2.518000	0.84900|0.84900	0.563000|0.563000	0.77884|0.77884	ATG|GTG		PASS	0.637	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		40	49	40	49	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159902338	159902338	+	Silent	SNP	G	G	A	rs532766563		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:159902338G>A	ENST00000368094.1	-	10	1406	c.1209C>T	c.(1207-1209)acC>acT	p.T403T	IGSF9_ENST00000361509.3_Silent_p.T387T|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	403	Ig-like 4.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T387T(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGCCCGGCGGTACCAAGAC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.001		0.0	False		,,,				2504	0.0					uc001fur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1207-1209)ACC>ACT		immunoglobulin superfamily, member 9 isoform a							62.0	60.0	61.0					1																	159902338		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159902338G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1209C>T	1.37:g.159902338G>A						IGSF9_uc001fuq.2_Silent_p.T387T|IGSF9_uc001fup.2_5'Flank	p.T403T	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		10	1407	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	403			Ig-like 4.|Extracellular (Potential).			Silent	SNP	ENST00000368094.1	37	c.1209C>T	CCDS44254.1																																																																																				PASS	0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		22	49	22	49	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160786504	160786504	+	Missense_Mutation	SNP	C	C	A	rs150208343		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:160786504C>A	ENST00000263285.6	+	5	1223	c.1193C>A	c.(1192-1194)cCg>cAg	p.P398Q	LY9_ENST00000368037.5_Missense_Mutation_p.P398Q|LY9_ENST00000368040.1_Missense_Mutation_p.P50Q|LY9_ENST00000368041.2_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000341032.4_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	398	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P398Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACATGGACCCCGCTGCAGAAG	0.557																																						uc001fwu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)CCG>CAG		lymphocyte antigen 9 isoform a							133.0	106.0	115.0					1																	160786504		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786504C>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1193C>A	1.37:g.160786504C>A	ENSP00000263285:p.Pro398Gln					LY9_uc001fwv.2_Missense_Mutation_p.P398Q|LY9_uc001fww.2_Intron|LY9_uc001fwx.2_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Missense_Mutation_p.P50Q	p.P398Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	1243	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		398			Extracellular (Potential).|Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1193C>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353374	0.41700	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000368037;ENST00000368035	T;T;T	0.36878	1.23;1.23;1.23	4.76	0.637	0.17735	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38746	0.1052	M	0.77103	2.36	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.989	T	0.13575	-1.0504	9	0.87932	D	0	-5.0941	4.2444	0.10665	0.1578:0.575:0.0:0.2673	.	50;398;398	Q5VYI1;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	Q	398;50;398;358;50	ENSP00000357019:P50Q;ENSP00000263285:P398Q;ENSP00000357014:P50Q	ENSP00000263285:P398Q	P	+	2	0	LY9	159053128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.447000	0.06828	-0.070000	0.12908	-0.217000	0.12591	CCG		PASS	0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		21	35	21	35	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171509443	171509443	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:171509443A>G	ENST00000338920.4	+	16	3069	c.2832A>G	c.(2830-2832)gcA>gcG	p.A944A	PRRC2C_ENST00000367742.3_Silent_p.A946A|PRRC2C_ENST00000392078.3_Silent_p.A946A|PRRC2C_ENST00000426496.2_Silent_p.A944A	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	944					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A946A(2)									AACCATCTGCAGGCATTCCTA	0.433																																						uc010pmg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(2830-2832)GCA>GCG		HBxAg transactivated protein 2							43.0	41.0	42.0					1																	171509443		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509443A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2832A>G	1.37:g.171509443A>G						BAT2L2_uc010pmh.1_5'UTR	p.A944A	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3098	+			944					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.2832A>G	CCDS1296.2																																																																																				PASS	0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	23	5	23	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174340115	174340115	+	Splice_Site	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:174340115A>G	ENST00000251507.4	+	12	1639		c.e12-1		RABGAP1L_ENST00000357444.6_Splice_Site|RABGAP1L_ENST00000367689.3_Splice_Site	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like									p.?(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTCTTCTGCAGAGAGTGATA	0.348																																						uc001gjx.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.e12-2		RAB GTPase activating protein 1-like isoform A							105.0	103.0	104.0					1																	174340115		2203	4300	6503	SO:0001630	splice_region_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174340115A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1466-1A>G	1.37:g.174340115A>G						RABGAP1L_uc009wwq.1_Splice_Site_p.E501_splice|RABGAP1L_uc001gjw.2_Splice_Site_p.E452_splice|RABGAP1L_uc001gjy.2_Splice_Site_p.E157_splice|RABGAP1L_uc001gjz.2_Splice_Site_p.E136_splice	p.E489_splice	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			12	1661	+								B7ZAA4	Splice_Site	SNP	ENST00000251507.4	37	c.1466_splice	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093291	0.76756	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7098	0.77615	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1L	172606738	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.649000	0.91067	2.250000	0.74265	0.533000	0.62120	.		PASS	0.348	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	Intron	21	54	21	54	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176769233	176769233	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:176769233G>T	ENST00000367662.3	+	21	6331	c.5167G>T	c.(5167-5169)Gac>Tac	p.D1723Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1723	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1723Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGGCACCCAGACCCCGTCTT	0.483																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5167-5169)GAC>TAC		pappalysin 2 isoform 1							129.0	126.0	127.0					1																	176769233		1922	4133	6055	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769233G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5167G>T	1.37:g.176769233G>T	ENSP00000356634:p.Asp1723Tyr					PAPPA2_uc009www.2_RNA	p.D1723Y	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			21	6331	+			1723			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5167G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691770	0.68271	.	.	ENSG00000116183	ENST00000367662	T	0.01981	4.52	6.02	5.1	0.69264	Notch domain (1);	0.168160	0.50627	D	0.000108	T	0.08626	0.0214	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.04320	-1.0960	10	0.87932	D	0	-24.3542	14.6661	0.68910	0.0:0.1451:0.8548:0.0	.	1723	Q9BXP8	PAPP2_HUMAN	Y	1723	ENSP00000356634:D1723Y	ENSP00000356634:D1723Y	D	+	1	0	PAPPA2	175035856	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	4.175000	0.58263	1.546000	0.49388	0.655000	0.94253	GAC		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			29	104	29	104	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176915118	176915118	+	Silent	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:176915118A>T	ENST00000367654.3	-	13	2428	c.2217T>A	c.(2215-2217)ggT>ggA	p.G739G	ASTN1_ENST00000424564.2_Silent_p.G731G|ASTN1_ENST00000361833.2_Silent_p.G731G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.G731G	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	739					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G731G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTGTTGTAACCAAAGAACA	0.493																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2191-2193)GGT>GGA		astrotactin isoform 1							121.0	123.0	122.0					1																	176915118		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915118A>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2217T>A	1.37:g.176915118A>T						ASTN1_uc001glb.1_Silent_p.G731G|ASTN1_uc001gld.1_Silent_p.G731G|ASTN1_uc009wwx.1_Silent_p.G731G	p.G731G	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2405	-			739					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2193T>A																																																																																					PASS	0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		34	138	34	138	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183101650	183101650	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:183101650G>A	ENST00000258341.4	+	21	3939	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1228	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1228K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AACAGCATTTGAGATTGAAGA	0.398																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(3682-3684)GAG>AAG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	118.0	121.0					1																	183101650		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183101650G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3682G>A	1.37:g.183101650G>A	ENSP00000258341:p.Glu1228Lys						p.E1228K	NM_002293	NP_002284	P11047	LAMC1_HUMAN			21	3939	+			1228			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3682G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489348	0.84962	.	.	ENSG00000135862	ENST00000258341	T	0.35421	1.31	5.55	5.55	0.83447	.	0.106746	0.64402	D	0.000003	T	0.39655	0.1086	L	0.57536	1.79	0.58432	D	0.999999	B	0.16166	0.016	B	0.08055	0.003	T	0.14868	-1.0457	10	0.45353	T	0.12	.	19.1017	0.93276	0.0:0.0:1.0:0.0	.	1228	P11047	LAMC1_HUMAN	K	1228	ENSP00000258341:E1228K	ENSP00000258341:E1228K	E	+	1	0	LAMC1	181368273	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.103000	0.94232	2.612000	0.88384	0.655000	0.94253	GAG		PASS	0.398	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		39	62	39	62	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185970840	185970840	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:185970840A>T	ENST00000271588.4	+	28	4544	c.4315A>T	c.(4315-4317)Act>Tct	p.T1439S	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1439S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1439	Ig-like C2-type 11.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T1439S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTGCAGGCACTTCTCAGAA	0.373																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(4315-4317)ACT>TCT		hemicentin 1 precursor							62.0	65.0	64.0					1																	185970840		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185970840A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4315A>T	1.37:g.185970840A>T	ENSP00000271588:p.Thr1439Ser						p.T1439S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			28	4544	+			1439			Ig-like C2-type 11.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4315A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625669	0.28889	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.16;-0.16	5.56	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.303521	0.42053	N	0.000774	T	0.32285	0.0824	N	0.03115	-0.41	0.25222	N	0.989895	B	0.11235	0.004	B	0.21151	0.033	T	0.22977	-1.0201	10	0.09843	T	0.71	.	6.4868	0.22093	0.7884:0.0:0.0724:0.1392	.	1439	Q96RW7	HMCN1_HUMAN	S	1439	ENSP00000271588:T1439S;ENSP00000356462:T1439S	ENSP00000271588:T1439S	T	+	1	0	HMCN1	184237463	0.950000	0.32346	0.977000	0.42913	0.988000	0.76386	3.935000	0.56560	0.912000	0.36772	0.383000	0.25322	ACT		PASS	0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	62	37	62	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201193908	201193908	+	Silent	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:201193908T>A	ENST00000335211.4	+	21	10522	c.10392T>A	c.(10390-10392)ccT>ccA	p.P3464P	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1007						nucleus (GO:0005634)|Z disc (GO:0030018)		p.P624P(1)|p.P3464P(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTGATCCCTGTGGCTGGAC	0.587																																						uc001gwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1870-1872)CCT>CCA		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							105.0	79.0	88.0					1																	201193908		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201193908T>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10392T>A	1.37:g.201193908T>A						IGFN1_uc001gwb.2_RNA	p.P624P	NM_178275	NP_840059					10	2644	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.1872T>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	T	2.656	-0.280802	0.05642	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.11	-5.25	0.02781	.	.	.	.	.	T	0.16128	0.0388	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	.	1.0339	0.01544	0.2278:0.3336:0.2059:0.2326	.	.	.	.	S	882	.	.	C	+	1	0	IGFN1	199460531	0.000000	0.05858	0.063000	0.19743	0.439000	0.31926	-1.873000	0.01637	-0.794000	0.04468	0.402000	0.26972	TGT		PASS	0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		3	44	3	44	---	---	---	---
MYOG	4656	broad.mit.edu	37	1	203054889	203054889	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:203054889C>T	ENST00000241651.4	-	1	275	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	67					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P67P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TACACGCCCACGGCAGGCACT	0.682																																						uc001gzd.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(199-201)CCG>CCA		myogenin							58.0	64.0	62.0					1																	203054889		2203	4300	6503	SO:0001819	synonymous_variant	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054889C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.201G>A	1.37:g.203054889C>T							p.P67P	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	489	-			67					Q53XW6	Silent	SNP	ENST00000241651.4	37	c.201G>A	CCDS1433.1																																																																																				PASS	0.682	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		53	66	53	66	---	---	---	---
ADORA1	134	broad.mit.edu	37	1	203134990	203134990	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:203134990A>G	ENST00000367236.4	+	3	1864	c.943A>G	c.(943-945)Att>Gtt	p.I315V	ADORA1_ENST00000337894.4_Missense_Mutation_p.I315V|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.I315V|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	315					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.I315V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGCACCTCCCATTGACGAGGA	0.577																																						uc001gze.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(943-945)ATT>GTT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						115.0	90.0	99.0					1																	203134990		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134990A>G	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.943A>G	1.37:g.203134990A>G	ENSP00000356205:p.Ile315Val					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.I315V|ADORA1_uc010pqg.1_Missense_Mutation_p.I247V|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.I348V	p.I315V	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1376	+			315			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.943A>G	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	A	0.331	-0.955970	0.02267	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.59083	0.29;0.29;0.29	5.37	-10.1	0.00402	.	2.297480	0.01565	N	0.020303	T	0.37919	0.1021	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08932	-1.0698	10	0.18710	T	0.47	4.2034	8.4376	0.32797	0.6679:0.0:0.1302:0.2019	.	348;247;315	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	V	315	ENSP00000308549:I315V;ENSP00000356205:I315V;ENSP00000338435:I315V	ENSP00000308549:I315V	I	+	1	0	ADORA1	201401613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.137000	0.03219	-1.484000	0.01856	-0.242000	0.12053	ATT		PASS	0.577	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		25	56	25	56	---	---	---	---
PRELP	5549	broad.mit.edu	37	1	203452423	203452423	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:203452423G>T	ENST00000343110.2	+	2	238	c.111G>T	c.(109-111)agG>agT	p.R37S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	37					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R37S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGACCCAGGCCCAGGCCCA	0.657																																						uc001gzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(109-111)AGG>AGT		proline arginine-rich end leucine-rich repeat							62.0	61.0	61.0					1																	203452423		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452423G>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.111G>T	1.37:g.203452423G>T	ENSP00000343924:p.Arg37Ser					PRELP_uc001gzt.2_Missense_Mutation_p.R37S	p.R37S	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	311	+			37					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.111G>T	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488722	0.26686	.	.	ENSG00000188783	ENST00000343110	T	0.41065	1.01	5.09	1.96	0.26148	.	0.882556	0.09614	N	0.778476	T	0.18676	0.0448	N	0.08118	0	0.34059	D	0.657044	B	0.06786	0.001	B	0.06405	0.002	T	0.35822	-0.9773	10	0.07482	T	0.82	-17.9686	6.0085	0.19559	0.1869:0.1559:0.6572:0.0	.	37	P51888	PRELP_HUMAN	S	37	ENSP00000343924:R37S	ENSP00000343924:R37S	R	+	3	2	PRELP	201719046	0.000000	0.05858	0.543000	0.28128	0.926000	0.56050	-0.604000	0.05667	0.520000	0.28426	-0.448000	0.05591	AGG		PASS	0.657	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		32	48	32	48	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235972254	235972254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:235972254G>A	ENST00000389794.3	-	5	2038	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q622*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q622*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	622					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Q622*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCTCCTAACTGATCCAAAATA	0.348																																						uc001hxj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1864-1866)CAG>TAG		lysosomal trafficking regulator							101.0	105.0	104.0					1																	235972254		2201	4299	6500	SO:0001587	stop_gained	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972254G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1864C>T	1.37:g.235972254G>A	ENSP00000374444:p.Gln622*					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.Q622*	p.Q622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2039	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	622					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.1864C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	42	9.301001	0.99130	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.61	5.61	0.85477	.	0.053137	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000374443:Q622X	Q	-	1	0	LYST	234038877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.639000	0.89480	0.655000	0.94253	CAG		PASS	0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			33	98	33	98	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235972330	235972330	+	Silent	SNP	G	G	C	rs148614675		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:235972330G>C	ENST00000389794.3	-	5	1962	c.1788C>G	c.(1786-1788)ctC>ctG	p.L596L	LYST_ENST00000389793.2_Silent_p.L596L|LYST_ENST00000536965.1_Silent_p.L596L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	596					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L596L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAAAAGCATGGAGCAAAGGAA	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20712	0.0		0.0	False		,,,				2504	0.0					uc001hxj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1786-1788)CTC>CTG		lysosomal trafficking regulator							110.0	109.0	109.0					1																	235972330		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972330G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1788C>G	1.37:g.235972330G>C						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L596L	p.L596L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1963	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	596					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.1788C>G	CCDS31062.1																																																																																				PASS	0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			43	123	43	123	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189398	236189398	+	Silent	SNP	G	G	A	rs201146842		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:236189398G>A	ENST00000264187.6	-	8	1864	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P	NID1_ENST00000366595.3_Silent_p.P594P	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	594	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.P594P(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CATCTCGCTCGGGCTCAGTCA	0.597																																						uc001hxo.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1780-1782)CCC>CCT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						88.0	82.0	84.0					1																	236189398		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189398G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1782C>T	1.37:g.236189398G>A						NID1_uc009xgd.2_Silent_p.P594P	p.P594P	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	1884	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	594			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.1782C>T	CCDS1608.1																																																																																				PASS	0.597	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		20	58	20	58	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240976970	240976970	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr1:240976970G>T	ENST00000407727.1	-	12	903	c.904C>A	c.(904-906)Cct>Act	p.P302T	RGS7_ENST00000366564.1_Missense_Mutation_p.P302T|RGS7_ENST00000348120.2_Missense_Mutation_p.P249T|RGS7_ENST00000366562.4_Missense_Mutation_p.P302T|RGS7_ENST00000401882.1_Missense_Mutation_p.P249T|RGS7_ENST00000366563.1_Missense_Mutation_p.P302T|RGS7_ENST00000446183.2_Missense_Mutation_p.P218T|RGS7_ENST00000366565.1_Missense_Mutation_p.P302T|RGS7_ENST00000331110.7_Missense_Mutation_p.P276T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	302	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.P302T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGGTTAGAAGGGTCAGGTGGC	0.423																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(904-906)CCT>ACT		regulator of G-protein signaling 7							116.0	109.0	111.0					1																	240976970		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240976970G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.904C>A	1.37:g.240976970G>T	ENSP00000384428:p.Pro302Thr					RGS7_uc010pyh.1_Missense_Mutation_p.P276T|RGS7_uc010pyj.1_Missense_Mutation_p.P218T|RGS7_uc001hyu.2_Missense_Mutation_p.P302T|RGS7_uc009xgn.1_Missense_Mutation_p.P249T|RGS7_uc001hyw.2_Missense_Mutation_p.P302T|RGS7_uc001hyt.2_Missense_Mutation_p.P134T	p.P302T	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1234	-		all_cancers(173;0.0131)	302			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.904C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187445	0.78789	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.5	5.5	0.81552	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.83603	2.65	0.80722	D	1	P;P;P;B;P;D;P	0.61080	0.589;0.925;0.907;0.354;0.907;0.989;0.925	P;P;P;P;P;P;P	0.61592	0.589;0.85;0.767;0.454;0.767;0.891;0.85	T	0.62243	-0.6895	10	0.56958	D	0.05	-15.9362	18.3748	0.90432	0.0:0.0:1.0:0.0	.	218;276;249;302;302;302;302	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	T	276;302;302;302;133;249;218;302;302;249	ENSP00000331485:P276T;ENSP00000355523:P302T;ENSP00000355522:P302T;ENSP00000355521:P302T;ENSP00000404399:P133T;ENSP00000341242:P249T;ENSP00000390138:P218T;ENSP00000355520:P302T;ENSP00000384428:P302T;ENSP00000385508:P249T	ENSP00000331485:P276T	P	-	1	0	RGS7	239043593	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.864000	0.99589	2.559000	0.86315	0.655000	0.94253	CCT		PASS	0.423	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		13	42	13	42	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25387637	25387637	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:25387637G>T	ENST00000405623.1	-	2	460	c.5C>A	c.(4-6)cCg>cAg	p.P2Q	POMC_ENST00000264708.3_Missense_Mutation_p.P2Q|POMC_ENST00000395826.2_Missense_Mutation_p.P2Q|POMC_ENST00000380794.1_Missense_Mutation_p.P2Q			P01189	COLI_HUMAN	proopiomelanocortin	2					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.P2Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCACGATCTCGGCATCTTCCA	0.607																																					Colon(110;1515 1566 8452 10082 43216)	uc002rfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)CCG>CAG		proopiomelanocortin preproprotein	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						34.0	37.0	36.0					2																	25387637		2203	4299	6502	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387637G>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.5C>A	2.37:g.25387637G>T	ENSP00000384092:p.Pro2Gln					POMC_uc002rfz.1_Missense_Mutation_p.P2Q|POMC_uc002rga.1_Missense_Mutation_p.P2Q	p.P2Q	NM_001035256	NP_001030333	P01189	COLI_HUMAN			3	268	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.5C>A	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479567	0.44044	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.76	1.86	0.25419	.	0.568591	0.19888	N	0.103811	T	0.75384	0.3842	L	0.44542	1.39	0.31182	N	0.701974	P	0.46656	0.882	B	0.42625	0.393	T	0.73733	-0.3890	10	0.62326	D	0.03	-7.6317	7.4221	0.27077	0.1483:0.3899:0.4618:0.0	.	2	P01189	COLI_HUMAN	Q	2	ENSP00000370171:P2Q;ENSP00000384092:P2Q;ENSP00000264708:P2Q;ENSP00000379170:P2Q;ENSP00000387993:P2Q	ENSP00000264708:P2Q	P	-	2	0	POMC	25241141	0.756000	0.28383	0.993000	0.49108	0.224000	0.24922	0.191000	0.17076	0.059000	0.16252	-0.448000	0.05591	CCG		PASS	0.607	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		19	40	19	40	---	---	---	---
KCNK3	3777	broad.mit.edu	37	2	26951214	26951214	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:26951214G>A	ENST00000302909.3	+	2	1088	c.963G>A	c.(961-963)ctG>ctA	p.L321L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	321					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.L321L(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCGAGAAGCTGCAGTACTCCA	0.687																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(961-963)CTG>CTA		potassium channel, subfamily K, member 3							26.0	19.0	22.0					2																	26951214		2197	4290	6487	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951214G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.963G>A	2.37:g.26951214G>A							p.L321L	NM_002246	NP_002237	O14649	KCNK3_HUMAN			2	1126	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		321			Cytoplasmic (Potential).		Q53SU2	Silent	SNP	ENST00000302909.3	37	c.963G>A	CCDS1727.1																																																																																				PASS	0.687	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		3	19	3	19	---	---	---	---
ZNF512	84450	broad.mit.edu	37	2	27823603	27823603	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:27823603G>T	ENST00000355467.4	+	6	586	c.503G>T	c.(502-504)aGt>aTt	p.S168I	ZNF512_ENST00000413371.2_Missense_Mutation_p.S91I|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000379717.1_Missense_Mutation_p.S167I|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.S139I	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	168					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.S168I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GATAAAGGCAGTGTCTCCTGC	0.433																																						uc002rla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)AGT>ATT		zinc finger protein 512							128.0	118.0	121.0					2																	27823603		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27823603G>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.503G>T	2.37:g.27823603G>T	ENSP00000347648:p.Ser168Ile					ZNF512_uc010ylv.1_Missense_Mutation_p.S89I|ZNF512_uc010ylw.1_Missense_Mutation_p.S139I|ZNF512_uc002rlb.2_Missense_Mutation_p.S89I|ZNF512_uc010ylx.1_Missense_Mutation_p.S89I|ZNF512_uc002rlc.2_Missense_Mutation_p.S89I|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_Missense_Mutation_p.S61I	p.S168I	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			6	590	+	Acute lymphoblastic leukemia(172;0.155)		168					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.503G>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379430	0.82682	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371	.	.	.	5.77	5.77	0.91146	.	0.045206	0.85682	D	0.000000	T	0.42268	0.1195	N	0.22421	0.69	0.80722	D	1	P;P;P	0.49961	0.838;0.93;0.93	B;B;B	0.41571	0.276;0.36;0.36	T	0.35724	-0.9777	9	0.44086	T	0.13	-15.5315	17.0799	0.86596	0.0:0.0:1.0:0.0	.	63;139;168	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	I	167;168;139;91	.	ENSP00000347648:S168I	S	+	2	0	ZNF512	27677107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.878000	0.69682	2.885000	0.99019	0.655000	0.94253	AGT		PASS	0.433	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		32	72	32	72	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44428810	44428810	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:44428810A>G	ENST00000282412.4	+	2	884	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	PPM1B_ENST00000409432.3_Missense_Mutation_p.R158G|PPM1B_ENST00000378551.2_Missense_Mutation_p.R158G|PPM1B_ENST00000409895.4_Missense_Mutation_p.R158G|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	158					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R158G(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTCTGTATAGGAATGGACA	0.453																																						uc002rtt.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(472-474)AGG>GGG		protein phosphatase 1B isoform 1							181.0	168.0	172.0					2																	44428810		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428810A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.472A>G	2.37:g.44428810A>G	ENSP00000282412:p.Arg158Gly					PPM1B_uc002rts.2_Missense_Mutation_p.R158G|PPM1B_uc002rtu.2_Missense_Mutation_p.R158G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R158G|PPM1B_uc002rtx.2_Missense_Mutation_p.R158G	p.R158G	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	900	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	158					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.472A>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340247	0.60963	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	5.86	3.36	0.38483	Protein phosphatase 2C-like (5);	0.041854	0.85682	D	0.000000	T	0.38558	0.1045	M	0.92691	3.335	0.58432	D	0.999991	D;P;D;D;P	0.61697	0.959;0.955;0.964;0.99;0.86	P;P;P;P;P	0.60682	0.878;0.662;0.87;0.878;0.728	T	0.38090	-0.9677	10	0.66056	D	0.02	-11.8645	8.3012	0.32014	0.7976:0.1336:0.0688:0.0	.	158;158;158;158;158	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	G	158	ENSP00000390087:R158G;ENSP00000387341:R158G;ENSP00000387287:R158G;ENSP00000282412:R158G;ENSP00000367813:R158G;ENSP00000386982:R158G	ENSP00000282412:R158G	R	+	1	2	PPM1B	44282314	1.000000	0.71417	0.968000	0.41197	0.910000	0.53928	4.632000	0.61311	1.040000	0.40099	0.533000	0.62120	AGG		PASS	0.453	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		35	101	35	101	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48602067	48602067	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:48602067C>T	ENST00000340553.3	+	7	1042	c.781C>T	c.(781-783)Cct>Tct	p.P261S		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	261					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P261S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGGTGAGAAGCCTCTTCCTCT	0.378																																						uc002rwh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)CCT>TCT		T-cell leukemia virus enhancer factor							48.0	47.0	47.0					2																	48602067		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602067C>T		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.781C>T	2.37:g.48602067C>T	ENSP00000343633:p.Pro261Ser						p.P261S	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1096	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	261					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.781C>T	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422748	0.62733	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.94417	-3.42	5.08	4.17	0.49024	.	0.382752	0.29908	N	0.010892	D	0.91888	0.7432	L	0.57536	1.79	0.43065	D	0.994696	P	0.39060	0.657	B	0.35182	0.197	D	0.90739	0.4648	10	0.31617	T	0.26	.	15.0408	0.71788	0.1432:0.8568:0.0:0.0	.	261	P32314	FOXN2_HUMAN	S	170;261	ENSP00000343633:P261S	ENSP00000305685:P170S	P	+	1	0	FOXN2	48455571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.393000	0.34497	1.443000	0.47586	0.655000	0.94253	CCT		PASS	0.378	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		16	38	16	38	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631438	63631438	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:63631438C>A	ENST00000272321.7	-	10	1707	c.1180G>T	c.(1180-1182)Gtt>Ttt	p.V394F	WDPCP_ENST00000409120.1_Missense_Mutation_p.V202F|WDPCP_ENST00000398544.3_Missense_Mutation_p.V235F|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.V394F|WDPCP_ENST00000409199.1_Missense_Mutation_p.V202F	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	394					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V394F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTGCTGCCAACTAGCAGAATG	0.458																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GTT>TTT		hypothetical protein LOC51057 isoform 2							76.0	74.0	75.0					2																	63631438		1875	4107	5982	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631438C>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1180G>T	2.37:g.63631438C>A	ENSP00000272321:p.Val394Phe					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.V235F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.V202F|C2orf86_uc002sci.1_Missense_Mutation_p.V370F|C2orf86_uc010fcr.1_Missense_Mutation_p.V284F	p.V394F	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1626	-			394			WD 2.		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1180G>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703865	0.68501	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.52	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);	0.231906	0.36932	N	0.002336	T	0.67692	0.2920	M	0.68317	2.08	0.45183	D	0.998195	D;P;D;P	0.63880	0.993;0.934;0.983;0.944	P;P;D;P	0.64042	0.883;0.656;0.921;0.545	T	0.71652	-0.4528	10	0.87932	D	0	-4.7591	13.2252	0.59911	0.0:0.9187:0.0:0.0813	.	202;394;394;235	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	F	394;202;202;235;394	ENSP00000272321:V394F;ENSP00000386592:V202F;ENSP00000386769:V202F;ENSP00000381552:V235F;ENSP00000387222:V394F	ENSP00000272321:V394F	V	-	1	0	WDPCP	63484942	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.405000	0.44548	1.378000	0.46305	0.591000	0.81541	GTT		PASS	0.458	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		31	93	31	93	---	---	---	---
CAPG	822	broad.mit.edu	37	2	85628714	85628714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:85628714C>A	ENST00000409921.1	-	4	355	c.289G>T	c.(289-291)Gag>Tag	p.E97*	CAPG_ENST00000263867.4_Nonsense_Mutation_p.E97*|CAPG_ENST00000409724.1_Nonsense_Mutation_p.E97*|CAPG_ENST00000409670.1_Nonsense_Mutation_p.E97*|CAPG_ENST00000483659.1_5'UTR			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E97*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCCTGCACCTCGCGGTGCTGC	0.647																																						uc002spl.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(289-291)GAG>TAG		gelsolin-like capping protein							74.0	72.0	73.0					2																	85628714		2203	4300	6503	SO:0001587	stop_gained	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628714C>A	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.289G>T	2.37:g.85628714C>A	ENSP00000387063:p.Glu97*					CAPG_uc002spm.1_Nonsense_Mutation_p.E97*|CAPG_uc010ysq.1_Nonsense_Mutation_p.E97*|CAPG_uc010fgi.1_Nonsense_Mutation_p.E97*|CAPG_uc010fgj.1_5'UTR	p.E97*	NM_001747	NP_001738	P40121	CAPG_HUMAN			4	539	-			97					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	ENST00000409921.1	37	c.289G>T	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	37	6.156287	0.97334	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	.	.	.	5.87	5.87	0.94306	.	0.095868	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	.	.	.	X	76;97;97;97;97;97;97;97;97	.	ENSP00000263867:E97X	E	-	1	0	CAPG	85482225	0.994000	0.37717	0.961000	0.40146	0.925000	0.55904	2.901000	0.48695	2.779000	0.95612	0.655000	0.94253	GAG		PASS	0.647	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		3	51	3	51	---	---	---	---
IGKV2-30	28919	broad.mit.edu	37	2	89544262	89544262	+	RNA	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:89544262G>T	ENST00000468494.1	-	0	390									immunoglobulin kappa variable 2-30																		TACCACTGTGGGAGGCCAGTG	0.557																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							50.0	48.0	48.0					2																	89544262		1863	4087	5950			0							g.chr2:89544262G>T	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544262G>T						uc002stl.2_Intron								14		-									RNA	SNP	ENST00000468494.1	37	c.1923C>A																																																																																					PASS	0.557	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		25	68	25	68	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539830	95539830	+	Silent	SNP	G	G	A	rs149873671		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:95539830G>A	ENST00000295201.4	+	3	827	c.690G>A	c.(688-690)ccG>ccA	p.P230P	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	230					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGCTCATCCGTACTCCACCA	0.662																																						uc002stw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(688-690)CCG>CCA		tektin 4		A		0,4406		0,0,2203	74.0	71.0	72.0		690	-4.5	0.0	2	dbSNP_134	72	1,8599		0,1,4299	no	coding-synonymous	TEKT4	NM_144705.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		230/436	95539830	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539830G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690G>A	2.37:g.95539830G>A						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.P230P	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			3	783	+			230						Silent	SNP	ENST00000295201.4	37	c.690G>A	CCDS2005.1																																																																																				PASS	0.662	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		15	38	15	38	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95542363	95542363	+	Missense_Mutation	SNP	C	C	A	rs112631866	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:95542363C>A	ENST00000295201.4	+	6	1294	c.1157C>A	c.(1156-1158)gCg>gAg	p.A386E	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	386					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A386G(1)|p.A386E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCTAGAAGCGGAGCAGTCC	0.597																																						uc002stw.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1156-1158)GCG>GAG		tektin 4							58.0	47.0	51.0					2																	95542363		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542363C>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1157C>A	2.37:g.95542363C>A	ENSP00000295201:p.Ala386Glu					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.A386E	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			6	1250	+			386			Potential.			Missense_Mutation	SNP	ENST00000295201.4	37	c.1157C>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	16.53	3.149371	0.57151	.	.	ENSG00000163060	ENST00000295201	T	0.03212	4.01	2.43	2.43	0.29744	.	0.125962	0.52532	D	0.000066	T	0.15565	0.0375	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.00749	-1.1582	10	0.66056	D	0.02	-13.8877	10.5484	0.45072	0.0:1.0:0.0:0.0	.	386	Q8WW24	TEKT4_HUMAN	E	386	ENSP00000295201:A386E	ENSP00000295201:A386E	A	+	2	0	TEKT4	94906090	0.200000	0.23398	1.000000	0.80357	0.487000	0.33371	4.806000	0.62569	1.049000	0.40321	0.281000	0.19383	GCG		PASS	0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		4	17	4	17	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96949340	96949340	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:96949340G>A	ENST00000323853.5	-	33	4773	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1566	Helicase C-terminal 2. {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.R1566C(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						GTCTGCTTGCGAGACGGCACA	0.592																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4696-4698)CGC>TGC		activating signal cointegrator 1 complex subunit							155.0	148.0	150.0					2																	96949340		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.chr2:96949340G>A	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.4696C>T	2.37:g.96949340G>A	ENSP00000317123:p.Arg1566Cys					SNRNP200_uc002svt.2_Missense_Mutation_p.R176C|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.R93C	p.R1566C	NM_014014	NP_054733	O75643	U520_HUMAN			33	4782	-			1566			Helicase C-terminal 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4696C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383129	0.82792	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.89939	-2.59	5.0	5.0	0.66597	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	D	0.98550	1.0636	10	0.87932	D	0	-13.0082	17.4484	0.87585	0.0:0.0:1.0:0.0	.	1317;1566	A4FU77;O75643	.;U520_HUMAN	C	1566;25;149	ENSP00000317123:R1566C	ENSP00000317123:R1566C	R	-	1	0	SNRNP200	96313067	1.000000	0.71417	0.932000	0.37286	0.993000	0.82548	7.390000	0.79816	2.488000	0.83962	0.563000	0.77884	CGC		PASS	0.592	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		9	98	9	98	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113950133	113950133	+	Missense_Mutation	SNP	G	G	T	rs377061829		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:113950133G>T	ENST00000245796.6	+	6	2000	c.1805G>T	c.(1804-1806)cGg>cTg	p.R602L	PSD4_ENST00000441564.3_Missense_Mutation_p.R574L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	602	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R602Q(1)|p.R602L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCTTCCGGAAGTCTGAA	0.602																																						uc002tjc.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1804-1806)CGG>CTG		pleckstrin and Sec7 domain containing 4							77.0	80.0	79.0					2																	113950133		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950133G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1805G>T	2.37:g.113950133G>T	ENSP00000245796:p.Arg602Leu					PSD4_uc002tjd.2_Missense_Mutation_p.R223L|PSD4_uc002tje.2_Missense_Mutation_p.R573L|PSD4_uc002tjf.2_Missense_Mutation_p.R223L	p.R602L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			6	1988	+			602			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1805G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550096	0.45383	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.30714	1.52;1.52	5.68	1.92	0.25849	SEC7-like (4);	0.137812	0.50627	D	0.000114	T	0.21267	0.0512	L	0.41710	1.295	0.80722	D	1	B;B;B	0.13594	0.008;0.002;0.001	B;B;B	0.22753	0.026;0.009;0.041	T	0.07635	-1.0762	10	0.56958	D	0.05	.	3.5807	0.07952	0.3286:0.0:0.5045:0.1669	.	260;574;602	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	602;574	ENSP00000245796:R602L;ENSP00000413997:R574L	ENSP00000245796:R602L	R	+	2	0	PSD4	113666604	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	1.581000	0.36558	0.358000	0.24211	-0.837000	0.03062	CGG		PASS	0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		18	42	18	42	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121744085	121744085	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:121744085G>A	ENST00000452319.1	+	13	2248	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	GLI2_ENST00000314490.11_Missense_Mutation_p.E402K|GLI2_ENST00000361492.4_Missense_Mutation_p.E730K					GLI family zinc finger 2									p.E730K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCGGTTCGAGCAGCTCAA	0.647																																						uc010flp.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(2188-2190)GAG>AAG		GLI-Kruppel family member GLI2							80.0	73.0	75.0					2																	121744085		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744085G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2188G>A	2.37:g.121744085G>A	ENSP00000390436:p.Glu730Lys					GLI2_uc002tmq.1_Missense_Mutation_p.E402K|GLI2_uc002tmr.1_Missense_Mutation_p.E385K|GLI2_uc002tmt.3_Missense_Mutation_p.E402K|GLI2_uc002tmu.3_Missense_Mutation_p.E385K|GLI2_uc002tmw.1_Missense_Mutation_p.E713K	p.E730K	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	2218	+	Renal(3;0.0496)	Prostate(154;0.0623)	730						Missense_Mutation	SNP	ENST00000452319.1	37	c.2188G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016059	0.93404	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.24350	2.26;2.26;1.86	4.89	4.89	0.63831	.	0.049714	0.85682	D	0.000000	T	0.57740	0.2074	M	0.87456	2.885	0.54753	D	0.999987	D;D;D;D	0.89917	0.998;0.999;1.0;0.977	P;D;D;P	0.74348	0.735;0.938;0.983;0.508	T	0.66015	-0.6028	10	0.72032	D	0.01	.	18.2372	0.89952	0.0:0.0:1.0:0.0	.	730;385;385;402	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	K	730;730;402	ENSP00000390436:E730K;ENSP00000354586:E730K;ENSP00000312694:E402K	ENSP00000312694:E402K	E	+	1	0	GLI2	121460555	1.000000	0.71417	0.989000	0.46669	0.898000	0.52572	6.331000	0.72929	2.536000	0.85505	0.650000	0.86243	GAG		PASS	0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		26	27	26	27	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132237844	132237844	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:132237844C>A	ENST00000321253.6	+	4	685	c.578C>A	c.(577-579)aCg>aAg	p.T193K	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	193					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T193K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCACCCACACGACCCTGGAA	0.542																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)ACG>AAG		tubulin, alpha 3d							106.0	122.0	116.0					2																	132237844		2202	4300	6502	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237844C>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.578C>A	2.37:g.132237844C>A	ENSP00000326042:p.Thr193Lys						p.T193K	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	685	+			193					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.578C>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.346071	0.24426	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68765	-0.35	2.24	1.34	0.21922	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47093	U	0.000244	T	0.76111	0.3942	M	0.84683	2.71	0.43222	D	0.995107	P	0.52577	0.954	P	0.57679	0.825	T	0.75004	-0.3470	10	0.87932	D	0	.	6.9627	0.24605	0.0:0.8444:0.0:0.1556	.	193	Q13748	TBA3C_HUMAN	K	193	ENSP00000326042:T193K	ENSP00000326042:T193K	T	+	2	0	TUBA3D	131954314	0.999000	0.42202	0.997000	0.53966	0.447000	0.32167	3.094000	0.50227	0.276000	0.22118	-1.031000	0.02408	ACG		PASS	0.542	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		42	151	42	151	---	---	---	---
ANKRD30BL	554226	broad.mit.edu	37	2	133014622	133014622	+	Intron	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:133014622C>A	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ACCGCAGCGACCCGCCTAGGA	0.697																																						hsa-mir-663b|MI0006336																			0					0															26.0	45.0	40.0					2																	133014622		1553	3578	5131	SO:0001627	intron_variant	100302269							g.chr2:133014622C>A			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+479G>T	2.37:g.133014622C>A						NCRNA00164_uc002ttj.3_Intron										-								B8ZZL7	RNA	SNP	ENST00000470729.1	37	c.32C>A																																																																																					PASS	0.697	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019		4	15	4	15	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135745182	135745182	+	Silent	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:135745182A>T	ENST00000375845.3	-	7	1290	c.1260T>A	c.(1258-1260)gtT>gtA	p.V420V	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.V437V|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.V307V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	420							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V420V(1)									TATGTAATGAAACTCTTTTTG	0.348																																						uc002tue.1																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1258-1260)GTT>GTA		Yeast Sps1/Ste20-related kinase 4 isoform 1							89.0	91.0	90.0					2																	135745182		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745182A>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1260T>A	2.37:g.135745182A>T						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.V307V|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.V148V|YSK4_uc002tui.3_Silent_p.V437V	p.V420V	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1291	-			420					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1260T>A	CCDS2176.2																																																																																				PASS	0.348	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		23	87	23	87	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157445	145157445	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:145157445G>T	ENST00000558170.2	-	8	2493	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K	ZEB2_ENST00000409487.3_Missense_Mutation_p.Q437K|ZEB2_ENST00000303660.4_Missense_Mutation_p.Q437K|ZEB2_ENST00000539609.3_Missense_Mutation_p.Q413K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	437	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.Q437K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTAAGTGCTGCATTGGACTC	0.468																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1309-1311)CAG>AAG		zinc finger homeobox 1b							65.0	70.0	69.0					2																	145157445		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157445G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1309C>A	2.37:g.145157445G>T	ENSP00000454157:p.Gln437Lys					ZEB2_uc002tvv.2_Missense_Mutation_p.Q431K|ZEB2_uc010zbm.1_Missense_Mutation_p.Q408K|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.Q466K	p.Q437K	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1789	-			437			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1309C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233629	0.58886	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.18502	2.24;2.21;2.21;2.49;2.29	5.53	5.53	0.82687	.	0.049328	0.85682	D	0.000000	T	0.37348	0.1000	L	0.58810	1.83	0.80722	D	1	P;P;B;P	0.48016	0.904;0.462;0.231;0.628	P;B;B;B	0.57425	0.82;0.173;0.05;0.248	T	0.04153	-1.0973	10	0.87932	D	0	-10.5025	19.4645	0.94932	0.0:0.0:1.0:0.0	.	413;302;436;437	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	413;437;437;437;437	ENSP00000443792:Q413K;ENSP00000302501:Q437K;ENSP00000386854:Q437K;ENSP00000395496:Q437K;ENSP00000376601:Q437K	ENSP00000302501:Q437K	Q	-	1	0	ZEB2	144873915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.587000	0.87381	0.655000	0.94253	CAG		PASS	0.468	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		38	61	38	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179529454	179529454	+	Intron	SNP	A	A	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:179529454A>C	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.A12043A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGGAGAGCTTCAGGCA	0.383																																						uc010zfk.1																			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.(565-567)GCT>GCG		SubName: Full=Titin; Flags: Fragment;							54.0	51.0	52.0					2																	179529454		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529454A>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.34264+5490T>G	2.37:g.179529454A>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.A189A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	1115	-			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.567T>G		.	.	.	.	.	.	.	.	.	.	A	4.579	0.107479	0.08780	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.4	1.97	0.26223	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	2.1081	0.03696	0.5193:0.138:0.0764:0.2663	.	.	.	.	R	107	.	.	L	-	2	0	TTN	179237699	0.000000	0.05858	0.000000	0.03702	0.784000	0.44337	-0.279000	0.08479	0.315000	0.23110	0.528000	0.53228	CTC		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	40	8	40	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576820	179576820	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:179576820C>T	ENST00000591111.1	-	94	27010	c.26786G>A	c.(26785-26787)aGa>aAa	p.R8929K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9246K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8002K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13074	Ig-like 72.				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)	p.R8002K(1)		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)			CGTAGTGGGTCTCAATTTTGT	0.408																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(24004-24006)AGA>AAA		titin isoform N2-A							56.0	57.0	57.0					2																	179576820		1862	4104	5966	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576820C>T	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.26786G>A	2.37:g.179576820C>T	ENSP00000465570:p.Arg8929Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4663K	p.R8002K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24229	-			8929					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.24005G>A		.	.	.	.	.	.	.	.	.	.	C	16.89	3.247345	0.59103	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73257	0.3564	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	T	0.75096	-0.3438	9	0.87932	D	0	.	19.6922	0.96007	0.0:1.0:0.0:0.0	.	8929	Q8WZ42	TITIN_HUMAN	K	8002	ENSP00000343764:R8002K	ENSP00000343764:R8002K	R	-	2	0	TTN	179285065	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.640000	0.67875	2.704000	0.92352	0.655000	0.94253	AGA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	48	23	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179628932	179628932	+	Silent	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:179628932G>T	ENST00000591111.1	-	43	10310	c.10086C>A	c.(10084-10086)gcC>gcA	p.A3362A	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Silent_p.A3316A|TTN_ENST00000589042.1_Silent_p.A3362A|TTN_ENST00000342175.6_Silent_p.A3316A|TTN_ENST00000360870.5_Silent_p.A3362A|TTN_ENST00000342992.6_Silent_p.A3362A|TTN_ENST00000460472.2_Silent_p.A3316A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13678	Ig-like 20.				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)	p.A3362A(3)|p.A3316A(3)		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)			ATTGAAAACGGGCTGGCTGCC	0.453																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	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.(10084-10086)GCC>GCA		titin isoform N2-A							96.0	98.0	98.0					2																	179628932		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179628932G>T	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.10086C>A	2.37:g.179628932G>T						TTN_uc010zfh.1_Silent_p.A3316A|TTN_uc010zfi.1_Silent_p.A3316A|TTN_uc010zfj.1_Silent_p.A3316A|TTN_uc002umz.1_Silent_p.A23A|TTN_uc002unb.2_Silent_p.A3362A	p.A3362A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		43	10310	-			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.10086C>A																																																																																					PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	77	12	77	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179635941	179635941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:179635941C>A	ENST00000591111.1	-	34	8337	c.8113G>T	c.(8113-8115)Gaa>Taa	p.E2705*	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2659*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E2705*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E2659*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2705*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2705*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2659*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13030					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)	p.E2659*(3)|p.E2705*(3)		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)			TACTTGCCTTCAACTTTGAGT	0.368																																						uc010zfg.1																			6	Substitution - Nonsense(6)		lung(6)	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.(8113-8115)GAA>TAA		titin isoform N2-A							139.0	127.0	131.0					2																	179635941		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635941C>A	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.8113G>T	2.37:g.179635941C>A	ENSP00000465570:p.Glu2705*					TTN_uc010zfh.1_Nonsense_Mutation_p.E2659*|TTN_uc010zfi.1_Nonsense_Mutation_p.E2659*|TTN_uc010zfj.1_Nonsense_Mutation_p.E2659*|TTN_uc002unb.2_Nonsense_Mutation_p.E2705*	p.E2705*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		34	8337	-			2705					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.8113G>T		.	.	.	.	.	.	.	.	.	.	C	51	17.623225	0.99890	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	2705;2659;2659;2659;2659;2705	.	ENSP00000340554:E2659X	E	-	1	0	TTN	179344186	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.085000	0.71343	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	57	20	57	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196681439	196681439	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:196681439G>T	ENST00000312428.6	-	51	9774	c.9674C>A	c.(9673-9675)cCc>cAc	p.P3225H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3225					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P3225H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGTACATGGGCTCAATGTT	0.383																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(9673-9675)CCC>CAC		dynein, axonemal, heavy chain 7							118.0	114.0	115.0					2																	196681439		1864	4102	5966	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681439G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9674C>A	2.37:g.196681439G>T	ENSP00000311273:p.Pro3225His						p.P3225H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			51	9775	-			3225					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9674C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397568	0.83120	.	.	ENSG00000118997	ENST00000312428	T	0.54071	0.59	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.80388	-0.1403	10	0.87932	D	0	.	18.3163	0.90223	0.0:0.0:1.0:0.0	.	3225	Q8WXX0	DYH7_HUMAN	H	3225	ENSP00000311273:P3225H	ENSP00000311273:P3225H	P	-	2	0	DNAH7	196389684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.652000	0.90054	0.591000	0.81541	CCC		PASS	0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	43	18	43	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202582799	202582799	+	Splice_Site	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:202582799C>A	ENST00000264276.6	-	24	4209		c.e24+1		ALS2_ENST00000457679.2_Splice_Site	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAGTTACTCACAAAACTTTAG	0.323																																						uc002uyo.2																			1	Unknown(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.e24+1		alsin isoform 1							76.0	69.0	71.0					2																	202582799		1817	4072	5889	SO:0001630	splice_region_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202582799C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3836+1G>T	2.37:g.202582799C>A						ALS2_uc010ftl.2_Splice_Site	p.F1279_splice	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			24	4192	-								Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Splice_Site	SNP	ENST00000264276.6	37	c.3836_splice	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523382	0.85600	.	.	ENSG00000003393	ENST00000264276	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8314	0.96638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2	202291044	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.060000	0.76692	2.705000	0.92388	0.555000	0.69702	.		PASS	0.323	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	Intron	8	48	8	48	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220342649	220342649	+	Missense_Mutation	SNP	C	C	A	rs201670112		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:220342649C>A	ENST00000312358.7	+	22	4981	c.4849C>A	c.(4849-4851)Cgc>Agc	p.R1617S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1617	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1617S(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACTTGCGGCGCATAGTGGA	0.647																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4849-4851)CGC>AGC		SPEG complex locus							92.0	96.0	95.0					2																	220342649		2029	4184	6213	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220342649C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4849C>A	2.37:g.220342649C>A	ENSP00000311684:p.Arg1617Ser						p.R1617S	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	22	4849	+		Renal(207;0.0183)	1617			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4849C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628698	0.46944	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.41400	1.0	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001204	T	0.46268	0.1384	N	0.13043	0.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.46703	T	0.11	.	13.1488	0.59478	0.1699:0.8301:0.0:0.0	.	1617	Q15772	SPEG_HUMAN	S	1617	ENSP00000311684:R1617S	ENSP00000265327:R1617S	R	+	1	0	SPEG	220050893	0.998000	0.40836	0.981000	0.43875	0.644000	0.38419	1.414000	0.34736	2.724000	0.93272	0.563000	0.77884	CGC		PASS	0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		22	93	22	93	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231951878	231951878	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:231951878T>C	ENST00000308696.6	+	16	2028	c.1866T>C	c.(1864-1866)ctT>ctC	p.L622L	PSMD1_ENST00000373635.4_Silent_p.L622L|PSMD1_ENST00000409643.1_Silent_p.L622L|PSMD1_ENST00000488354.1_3'UTR	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	622					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L622L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TAGAATCACTTGGGTTCATTC	0.333																																						uc002vrn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1864-1866)CTT>CTC		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						123.0	134.0	130.0					2																	231951878		2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231951878T>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1866T>C	2.37:g.231951878T>C						PSMD1_uc002vrm.1_Silent_p.L622L|PSMD1_uc010fxu.1_Silent_p.L486L	p.L622L	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	16	1997	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	622			PC 7.		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.1866T>C	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	T	8.388	0.839010	0.16891	.	.	ENSG00000173692	ENST00000447633	T	0.44881	0.91	5.82	1.93	0.25924	.	0.051131	0.85682	D	0.000000	T	0.50820	0.1638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49263	-0.8958	7	0.87932	D	0	-13.0919	9.3499	0.38131	0.0:0.0678:0.5047:0.4274	.	.	.	.	S	115	ENSP00000410061:L115S	ENSP00000410061:L115S	L	+	2	0	PSMD1	231660122	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.029000	0.30140	0.087000	0.17167	0.459000	0.35465	TTG		PASS	0.333	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			10	52	10	52	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234854669	234854669	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr2:234854669T>A	ENST00000324695.4	+	7	909	c.869T>A	c.(868-870)aTt>aAt	p.I290N	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	290					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I290N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GAGCGCACTATTCAAGGTCAG	0.473																																						uc002vvh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(868-870)ATT>AAT		transient receptor potential cation channel,	Menthol(DB00825)						71.0	62.0	65.0					2																	234854669		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234854669T>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.869T>A	2.37:g.234854669T>A	ENSP00000323926:p.Ile290Asn					TRPM8_uc010fyj.2_5'UTR	p.I290N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	7	909	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	290			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.869T>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153426	0.38021	.	.	ENSG00000144481	ENST00000324695	T	0.37235	1.21	5.75	4.65	0.58169	.	0.419814	0.24438	N	0.038539	T	0.33673	0.0871	M	0.64404	1.975	0.48830	D	0.999716	B	0.15473	0.013	B	0.16289	0.015	T	0.21621	-1.0240	10	0.66056	D	0.02	-8.8753	6.4808	0.22061	0.0:0.0859:0.2025:0.7117	.	290	Q7Z2W7	TRPM8_HUMAN	N	290	ENSP00000323926:I290N	ENSP00000323926:I290N	I	+	2	0	TRPM8	234519408	0.995000	0.38212	0.936000	0.37596	0.814000	0.46013	2.049000	0.41288	1.091000	0.41335	0.533000	0.62120	ATT		PASS	0.473	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		6	43	6	43	---	---	---	---
ZKSCAN7	55888	broad.mit.edu	37	3	44611698	44611698	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:44611698C>A	ENST00000273320.3	+	6	1525	c.1096C>A	c.(1096-1098)Ctg>Atg	p.L366M	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.L366M	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	366					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.L366M(1)									ACATCCACCTCTGTCTTCCAG	0.373																																						uc010hin.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1096-1098)CTG>ATG		zinc finger protein 167 isoform 1							85.0	90.0	88.0					3																	44611698		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44611698C>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1096C>A	3.37:g.44611698C>A	ENSP00000273320:p.Leu366Met					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.L215M|ZNF167_uc003cnj.2_Missense_Mutation_p.L366M|ZNF167_uc003cnk.2_Intron	p.L366M	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1484	+			366					A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1096C>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.485603	0.26686	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.06768	3.26;3.26;3.29	3.88	-0.167	0.13347	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P;B	0.38827	0.649;0.243	B;B	0.34779	0.189;0.032	T	0.39461	-0.9613	9	0.34782	T	0.22	-0.2376	3.4847	0.07615	0.295:0.4318:0.0:0.2732	.	236;366	A7MAY2;Q9P0L1	.;ZN167_HUMAN	M	366;366;215	ENSP00000395524:L366M;ENSP00000273320:L366M;ENSP00000405034:L215M	ENSP00000273320:L366M	L	+	1	2	ZNF167	44586702	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.060000	0.11712	0.014000	0.14944	-0.142000	0.14014	CTG		PASS	0.373	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		4	102	4	102	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689524	49689524	+	Silent	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:49689524G>T	ENST00000296452.4	+	5	2649	c.2535G>T	c.(2533-2535)cgG>cgT	p.R845R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	845					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R845R(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCATGCGACGGCAGATTCTCG	0.622																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2533-2535)CGG>CGT		bassoon protein							52.0	56.0	54.0					3																	49689524		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689524G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2535G>T	3.37:g.49689524G>T							p.R845R	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2649	+			845					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.2535G>T	CCDS2800.1																																																																																				PASS	0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	19	6	19	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52521868	52521868	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:52521868G>T	ENST00000479054.1	+	17	2432	c.2360G>T	c.(2359-2361)aGt>aTt	p.S787I	NISCH_ENST00000345716.4_Missense_Mutation_p.S787I			Q9Y2I1	NISCH_HUMAN	nischarin	787	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.S787I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GTACGGCACAGTGAGAACACG	0.592																																						uc011beg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2359-2361)AGT>ATT		nischarin							92.0	77.0	82.0					3																	52521868		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521868G>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2360G>T	3.37:g.52521868G>T	ENSP00000418232:p.Ser787Ile					NISCH_uc003ded.3_Missense_Mutation_p.S787I|NISCH_uc003dee.3_Missense_Mutation_p.S276I|NISCH_uc003deg.1_RNA	p.S787I	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	2432	+			787			Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2360G>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607534	0.66558	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.09630	2.96;2.96	5.04	5.04	0.67666	.	0.287000	0.40728	N	0.001036	T	0.20981	0.0505	L	0.27053	0.805	0.33074	D	0.535797	D	0.67145	0.996	P	0.61940	0.896	T	0.07347	-1.0777	10	0.87932	D	0	-13.3105	18.7397	0.91769	0.0:0.0:1.0:0.0	.	787	Q9Y2I1	NISCH_HUMAN	I	787;787;131	ENSP00000418232:S787I;ENSP00000339958:S787I	ENSP00000339958:S787I	S	+	2	0	NISCH	52496908	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	3.958000	0.56737	2.504000	0.84457	0.561000	0.74099	AGT		PASS	0.592	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		6	15	6	15	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52538511	52538511	+	Silent	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:52538511C>G	ENST00000321725.6	+	11	1261	c.1185C>G	c.(1183-1185)ggC>ggG	p.G395G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	395	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G395G(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACAGCGGGCCCTTTCACCG	0.622																																						uc003dej.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1183-1185)GGC>GGG		stabilin 1 precursor							102.0	98.0	99.0					3																	52538511		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538511C>G	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1185C>G	3.37:g.52538511C>G						STAB1_uc003dei.1_Silent_p.G395G	p.G395G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	11	1259	+			395			Extracellular (Potential).|FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1185C>G	CCDS33768.1																																																																																				PASS	0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		8	36	8	36	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98188464	98188464	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:98188464C>A	ENST00000332650.5	+	1	141	c.44C>A	c.(43-45)aCa>aAa	p.T15K		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTATCCTCACAGGATTTACA	0.403																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(43-45)ACA>AAA		olfactory receptor, family 5, subfamily K,							89.0	91.0	90.0					3																	98188464		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188464C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.44C>A	3.37:g.98188464C>A	ENSP00000373193:p.Thr15Lys						p.T15K	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	44	+			15			Extracellular (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.44C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	3.802	-0.041550	0.07452	.	.	ENSG00000232382	ENST00000332650	T	0.01084	5.36	5.05	-1.97	0.07503	.	0.537114	0.15366	N	0.266107	T	0.00875	0.0029	N	0.25332	0.735	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.44467	-0.9326	10	0.37606	T	0.19	-2.3693	4.988	0.14200	0.251:0.3906:0.0:0.3584	.	15	Q8NHB7	OR5K1_HUMAN	K	15	ENSP00000373193:T15K	ENSP00000373193:T15K	T	+	2	0	OR5K1	99671154	0.000000	0.05858	0.055000	0.19348	0.023000	0.10783	-0.461000	0.06712	-0.481000	0.06792	-1.320000	0.01293	ACA		PASS	0.403	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			22	164	22	164	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101474392	101474392	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:101474392C>G	ENST00000341893.3	+	7	1599	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	CEP97_ENST00000494050.1_Missense_Mutation_p.Q283E|CEP97_ENST00000327230.4_Missense_Mutation_p.Q283E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	283					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.Q283E(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTAGGTCTTCAAACTGCAGA	0.448																																						uc003dvk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(847-849)CAA>GAA		centrosomal protein 97kDa							116.0	109.0	111.0					3																	101474392		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101474392C>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.847C>G	3.37:g.101474392C>G	ENSP00000342510:p.Gln283Glu					CEP97_uc010hpm.1_Missense_Mutation_p.Q249E|CEP97_uc011bhf.1_Missense_Mutation_p.Q283E|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.Q121E	p.Q283E	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			7	874	+			283					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.847C>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569451	0.45798	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.50813	0.73;0.73;0.84	5.91	5.91	0.95273	.	0.115953	0.64402	D	0.000013	T	0.33644	0.0870	N	0.17674	0.51	0.38546	D	0.949349	P;B;B	0.36027	0.533;0.207;0.131	B;B;B	0.32928	0.083;0.155;0.074	T	0.17319	-1.0373	10	0.10636	T	0.68	-4.1665	20.2956	0.98549	0.0:1.0:0.0:0.0	.	283;283;283	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	E	283	ENSP00000342510:Q283E;ENSP00000325881:Q283E;ENSP00000418185:Q283E	ENSP00000325881:Q283E	Q	+	1	0	CEP97	102957082	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.663000	0.54518	2.805000	0.96524	0.460000	0.39030	CAA		PASS	0.448	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		15	59	15	59	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101535662	101535662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:101535662C>T	ENST00000491511.2	+	7	1902	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	NXPE3_ENST00000422132.1_Nonsense_Mutation_p.Q316*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q316*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q316*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	316						extracellular region (GO:0005576)		p.Q316*(1)									AGAACTATCTCAAGGCTCAGG	0.343																																						uc003dvn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(946-948)CAA>TAA		hypothetical protein LOC91775 precursor							60.0	62.0	61.0					3																	101535662		2203	4300	6503	SO:0001587	stop_gained	91775					extracellular region		g.chr3:101535662C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.946C>T	3.37:g.101535662C>T	ENSP00000417485:p.Gln316*					FAM55C_uc010hpn.2_Nonsense_Mutation_p.Q316*	p.Q316*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			7	1583	+			316					A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	ENST00000491511.2	37	c.946C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	41	8.799680	0.98958	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	5.86	4.98	0.66077	.	1.224140	0.05082	N	0.483646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-0.7918	11.6612	0.51347	0.1223:0.6151:0.2626:0.0	.	.	.	.	X	316	.	ENSP00000273347:Q316X	Q	+	1	0	FAM55C	103018352	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	1.569000	0.36428	1.600000	0.50102	0.650000	0.86243	CAA		PASS	0.343	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		20	91	20	91	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114070156	114070156	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:114070156C>T	ENST00000474710.1	-	4	947	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G184S|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G184S|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G184S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G184S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G184S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G184S	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	257						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 negative regulation of transcription (GO:0001078)	p.G184S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGCGCTCGCCGCTGCCATTC	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(769-771)GGC>AGC		zinc finger and BTB domain containing 20 isoform							58.0	55.0	56.0					3																	114070156		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070156C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.769G>A	3.37:g.114070156C>T	ENSP00000419153:p.Gly257Ser					ZBTB20_uc003ebj.2_Missense_Mutation_p.G184S|ZBTB20_uc010hqp.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebk.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebl.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebm.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebn.2_Missense_Mutation_p.G184S|uc003ebo.1_5'Flank	p.G257S	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	949	-			257					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.769G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154144	0.57259	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10960	2.88;2.88;2.88;2.88;2.82;2.88;2.88	5.52	5.52	0.82312	.	0.053905	0.85682	D	0.000000	T	0.10766	0.0263	N	0.24115	0.695	0.58432	D	0.999999	D	0.56968	0.978	B	0.41894	0.369	T	0.02526	-1.1146	10	0.87932	D	0	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	257	Q9HC78	ZBT20_HUMAN	S	184;184;184;184;257;184;184	ENSP00000420324:G184S;ENSP00000377375:G184S;ENSP00000418092:G184S;ENSP00000419902:G184S;ENSP00000419153:G257S;ENSP00000349803:G184S;ENSP00000417307:G184S	ENSP00000349803:G184S	G	-	1	0	ZBTB20	115552846	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.842000	0.69417	2.878000	0.98634	0.650000	0.86243	GGC		PASS	0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		10	73	10	73	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141678557	141678557	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:141678557G>A	ENST00000489671.1	-	11	1440	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TFDP2_ENST00000310282.6_Missense_Mutation_p.A277V|TFDP2_ENST00000486111.1_Missense_Mutation_p.A277V|TFDP2_ENST00000479040.1_Missense_Mutation_p.A276V|TFDP2_ENST00000317104.7_Missense_Mutation_p.A261V|TFDP2_ENST00000397991.4_Missense_Mutation_p.A309V|TFDP2_ENST00000495310.1_Missense_Mutation_p.A240V|TFDP2_ENST00000467072.1_Missense_Mutation_p.A277V|TFDP2_ENST00000499676.2_Missense_Mutation_p.A277V|TFDP2_ENST00000477292.1_Missense_Mutation_p.A201V			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	337					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A337V(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGGGATTTCGCAAGTTTCAG	0.423																																						uc003eun.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1009-1011)GCG>GTG		transcription factor Dp-2 (E2F dimerization							149.0	156.0	153.0					3																	141678557		2002	4176	6178	SO:0001583	missense	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141678557G>A	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1010C>T	3.37:g.141678557G>A	ENSP00000420616:p.Ala337Val					TFDP2_uc003euk.3_Missense_Mutation_p.A250V|TFDP2_uc010hur.2_Missense_Mutation_p.A277V|TFDP2_uc003eul.3_Missense_Mutation_p.A277V|TFDP2_uc011bnf.1_Missense_Mutation_p.A240V|TFDP2_uc011bng.1_Missense_Mutation_p.A201V|TFDP2_uc003eum.3_Missense_Mutation_p.A277V	p.A337V	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			11	1389	-			337					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	c.1010C>T	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989771	0.93106	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.52526	1.64;1.56;1.64;0.7;0.66;1.64;1.67;1.64;1.64;1.6	5.16	5.16	0.70880	Transcription factor DP, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.67692	0.2920	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	B;D;D	0.87578	0.44;0.998;0.991	T	0.64364	-0.6425	10	0.35671	T	0.21	-5.5606	18.8432	0.92192	0.0:0.0:1.0:0.0	.	240;337;277	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	V	277;337;277;201;240;277;261;277;276;309	ENSP00000439782:A277V;ENSP00000420616:A337V;ENSP00000420599:A277V;ENSP00000418971:A201V;ENSP00000419036:A240V;ENSP00000418590:A277V;ENSP00000315668:A261V;ENSP00000309622:A277V;ENSP00000417585:A276V;ENSP00000381078:A309V	ENSP00000309622:A277V	A	-	2	0	TFDP2	143161247	1.000000	0.71417	0.139000	0.22197	0.952000	0.60782	9.062000	0.93920	2.687000	0.91594	0.462000	0.41574	GCG		PASS	0.423	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		34	172	34	172	---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150301669	150301669	+	Missense_Mutation	SNP	G	G	C	rs201607640		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:150301669G>C	ENST00000460851.1	+	14	1838	c.1729G>C	c.(1729-1731)Gag>Cag	p.E577Q	EIF2A_ENST00000273435.5_Missense_Mutation_p.E572Q|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.E363Q|EIF2A_ENST00000406576.3_Missense_Mutation_p.E516Q|EIF2A_ENST00000487799.1_Missense_Mutation_p.E552Q|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	577					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.E577Q(1)|p.E552Q(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTTCTCCAGGAGCTGGAAGA	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16166	0.0		0.0	False		,,,				2504	0.0					uc003eya.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1729-1731)GAG>CAG		eukaryotic translation initiation factor 2A							55.0	54.0	54.0					3																	150301669		1804	4083	5887	SO:0001583	missense	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150301669G>C	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1729G>C	3.37:g.150301669G>C	ENSP00000417229:p.Glu577Gln					SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.E450Q|EIF2A_uc003eyc.2_Missense_Mutation_p.E450Q|EIF2A_uc011bnv.1_Missense_Mutation_p.E552Q|EIF2A_uc011bnw.1_Missense_Mutation_p.E516Q|EIF2A_uc003eyd.2_Missense_Mutation_p.E352Q|uc003eye.1_Intron	p.E577Q	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		14	1745	+		Melanoma(1037;0.0575)	577			Potential.		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	c.1729G>C	CCDS46935.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.12|18.12	3.553486|3.553486	0.65425|0.65425	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043|ENST00000465535	T;T;T;T;T|.	0.66099|.	0.43;0.35;0.25;0.33;-0.19|.	5.46|5.46	3.68|3.68	0.42216|0.42216	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62159|0.62159	0.2405|0.2405	M|M	0.62016|0.62016	1.91|1.91	0.50467|0.50467	D|D	0.999873|0.999873	D;D;D|.	0.76494|.	0.999;0.995;0.995|.	D;P;P|.	0.80764|.	0.994;0.863;0.863|.	T|T	0.58284|0.58284	-0.7663|-0.7663	10|5	0.45353|.	T|.	0.12|.	-16.2693|-16.2693	10.0609|10.0609	0.42275|0.42275	0.1572:0.0:0.8428:0.0|0.1572:0.0:0.8428:0.0	.|.	516;552;577|.	B4DF96;B4DQ14;Q9BY44|.	.;.;EIF2A_HUMAN|.	Q|S	552;577;516;572;363|307	ENSP00000420537:E552Q;ENSP00000417229:E577Q;ENSP00000385292:E516Q;ENSP00000273435:E572Q;ENSP00000372513:E363Q|.	ENSP00000273435:E572Q|.	E|R	+|+	1|3	0|2	EIF2A|EIF2A	151784359|151784359	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.983000|0.983000	0.72400|0.72400	5.593000|5.593000	0.67550|0.67550	0.679000|0.679000	0.31345|0.31345	0.591000|0.591000	0.81541|0.81541	GAG|AGG		PASS	0.338	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		5	74	5	74	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167223158	167223158	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:167223158T>C	ENST00000308378.3	-	13	2070	c.1765A>G	c.(1765-1767)Aga>Gga	p.R589G	WDR49_ENST00000453925.2_Missense_Mutation_p.R554G|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.R414G	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	589								p.R589G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGGTACTTCTTTCCTTATAT	0.269																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1765-1767)AGA>GGA		WD repeat domain 49							41.0	46.0	44.0					3																	167223158		2190	4276	6466	SO:0001583	missense	151790							g.chr3:167223158T>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1765A>G	3.37:g.167223158T>C	ENSP00000311343:p.Arg589Gly					WDR49_uc003feu.1_Missense_Mutation_p.R414G|WDR49_uc011bpd.1_Missense_Mutation_p.R554G|WDR49_uc003few.1_Intron	p.R589G	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			13	2071	-			589					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1765A>G	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527646	0.13127	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.55413	0.52;1.81;0.9	5.0	3.84	0.44239	.	0.384481	0.29040	N	0.013337	T	0.41971	0.1182	L	0.60455	1.87	0.20196	N	0.999927	B;B	0.30326	0.009;0.276	B;B	0.23275	0.007;0.045	T	0.23691	-1.0181	10	0.23302	T	0.38	.	7.6686	0.28445	0.0:0.0974:0.0:0.9026	.	554;589	E7EQK3;Q8IV35	.;WDR49_HUMAN	G	589;414;554	ENSP00000311343:R589G;ENSP00000420508:R414G;ENSP00000410863:R554G	ENSP00000311343:R589G	R	-	1	2	WDR49	168705852	0.963000	0.33076	0.386000	0.26170	0.015000	0.08874	1.358000	0.34102	0.845000	0.35118	0.533000	0.62120	AGA		PASS	0.269	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		5	65	5	65	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916806	178916806	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:178916806G>A	ENST00000263967.3	+	2	350	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	65	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E65K(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCTTCAAGATGAATCTTCTTA	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)		lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(193-195)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							96.0	92.0	93.0					3																	178916806		1816	4081	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916806G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.193G>A	3.37:g.178916806G>A	ENSP00000263967:p.Glu65Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E65K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	350	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		65			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.193G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460902	0.84317	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.71698	-0.59;-0.59	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	N	0.25647	0.755	0.80722	D	1	P	0.49447	0.924	P	0.49252	0.604	T	0.65417	-0.6173	9	.	.	.	-8.8084	19.2635	0.93977	0.0:0.0:1.0:0.0	.	65	P42336	PK3CA_HUMAN	K	65	ENSP00000263967:E65K;ENSP00000417479:E65K	.	E	+	1	0	PIK3CA	180399500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	GAA		PASS	0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			15	137	15	137	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179576902	179576902	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:179576902G>T	ENST00000467460.1	-	8	1100	c.770C>A	c.(769-771)tCt>tAt	p.S257Y	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.S65Y|PEX5L_ENST00000392649.3_Missense_Mutation_p.S149Y|PEX5L_ENST00000476138.1_Missense_Mutation_p.S214Y|PEX5L_ENST00000485199.1_Missense_Mutation_p.S222Y|PEX5L_ENST00000263962.8_Missense_Mutation_p.S255Y|PEX5L_ENST00000472994.1_Missense_Mutation_p.S198Y|PEX5L_ENST00000464614.1_Missense_Mutation_p.S149Y|PEX5L_ENST00000465751.1_Missense_Mutation_p.S233Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	257					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.S257Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GTGGTTTCTAGAAAGTAATGC	0.373																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(769-771)TCT>TAT		peroxisomal biogenesis factor 5-like							130.0	130.0	130.0					3																	179576902		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576902G>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.770C>A	3.37:g.179576902G>T	ENSP00000419975:p.Ser257Tyr					PEX5L_uc011bqd.1_Missense_Mutation_p.S214Y|PEX5L_uc011bqe.1_Missense_Mutation_p.S65Y|PEX5L_uc011bqf.1_Missense_Mutation_p.S149Y|PEX5L_uc003fkj.1_Missense_Mutation_p.S222Y|PEX5L_uc010hxd.1_Missense_Mutation_p.S255Y|PEX5L_uc011bqg.1_Missense_Mutation_p.S233Y|PEX5L_uc011bqh.1_Missense_Mutation_p.S198Y	p.S257Y	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	900	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		257					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.770C>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047042	0.93740	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.88586	-2.39;-2.4;-2.37;-2.33;-2.33;-2.38;-2.38;-2.33;-2.38	5.76	5.76	0.90799	.	0.110498	0.64402	D	0.000005	D	0.92502	0.7619	L	0.43152	1.355	0.80722	D	1	D;D;P;D;D;D	0.71674	0.995;0.989;0.93;0.998;0.987;0.996	D;P;P;P;P;P	0.72982	0.979;0.648;0.452;0.904;0.773;0.804	D	0.92786	0.6244	10	0.72032	D	0.01	-13.7132	18.8213	0.92099	0.0:0.0:1.0:0.0	.	198;233;149;255;222;257	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Y	257;255;222;255;149;65;214;145;198;149;233;65	ENSP00000419975:S257Y;ENSP00000263962:S255Y;ENSP00000418440:S222Y;ENSP00000376420:S149Y;ENSP00000418665:S65Y;ENSP00000420555:S214Y;ENSP00000418054:S198Y;ENSP00000417270:S149Y;ENSP00000419348:S233Y	ENSP00000263962:S255Y	S	-	2	0	PEX5L	181059596	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	TCT		PASS	0.373	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		12	70	12	70	---	---	---	---
B3GNT5	84002	broad.mit.edu	37	3	182988594	182988594	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr3:182988594T>C	ENST00000326505.3	+	2	1538	c.1008T>C	c.(1006-1008)gcT>gcC	p.A336A	B3GNT5_ENST00000460419.1_Silent_p.A336A|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Silent_p.A336A|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	336					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.A336A(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGAAGAATGCTACAGATCCTA	0.353																																						uc003flk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1006-1008)GCT>GCC		UDP-GlcNAc:betaGal							52.0	51.0	51.0					3																	182988594		2203	4300	6503	SO:0001819	synonymous_variant	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988594T>C	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.1008T>C	3.37:g.182988594T>C						MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Silent_p.A336A|B3GNT5_uc003flm.2_Silent_p.A336A	p.A336A	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1538	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		336			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Silent	SNP	ENST00000326505.3	37	c.1008T>C	CCDS3244.1																																																																																				PASS	0.353	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		46	42	46	42	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	951970	951970	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:951970C>G	ENST00000264771.4	+	11	1386	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	TMEM175_ENST00000508204.1_Missense_Mutation_p.Q319E|TMEM175_ENST00000515740.1_Missense_Mutation_p.Q285E	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	401						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.Q401E(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGCTGCACCAGGCGGAGAC	0.667																																						uc003gbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)CAG>GAG		transmembrane protein 175							30.0	30.0	30.0					4																	951970		2199	4297	6496	SO:0001583	missense	84286					integral to membrane		g.chr4:951970C>G	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1201C>G	4.37:g.951970C>G	ENSP00000264771:p.Gln401Glu					TMEM175_uc003gbr.2_Missense_Mutation_p.Q319E|TMEM175_uc003gbu.2_Missense_Mutation_p.Q319E|TMEM175_uc003gbs.2_Missense_Mutation_p.Q284E|TMEM175_uc003gbt.2_Missense_Mutation_p.Q284E|TMEM175_uc003gbv.2_Missense_Mutation_p.Q284E|TMEM175_uc010ibm.2_Missense_Mutation_p.Q217E	p.Q401E	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1299	+			401					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1201C>G	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0|0	-2.791520|-2.791520	0.00077|0.00077	.|.	.|.	ENSG00000127419|ENSG00000127419	ENST00000505148|ENST00000264771;ENST00000515740;ENST00000508204	.|T;T;T	.|0.40476	.|1.61;1.61;1.03	4.65|4.65	0.643|0.643	0.17770|0.17770	.|.	.|0.291300	.|0.31542	.|N	.|0.007462	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.29852|0.29852	-0.9998|-0.9998	5|10	.|0.02654	.|T	.|1	-8.086|-8.086	16.5166|16.5166	0.84302|0.84302	0.0:0.6801:0.3199:0.0|0.0:0.6801:0.3199:0.0	.|.	.|319;401	.|D3DVN5;Q9BSA9	.|.;TM175_HUMAN	R|E	237|401;285;319	.|ENSP00000264771:Q401E;ENSP00000427039:Q285E;ENSP00000423669:Q319E	.|ENSP00000264771:Q401E	P|Q	+|+	2|1	0|0	TMEM175|TMEM175	941970|941970	0.940000|0.940000	0.31905|0.31905	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	1.892000|1.892000	0.39748|0.39748	-0.234000|-0.234000	0.09782|0.09782	0.491000|0.491000	0.48974|0.48974	CCA|CAG		PASS	0.667	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		11	19	11	19	---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7820899	7820899	+	Splice_Site	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:7820899C>T	ENST00000360265.4	-	6	961		c.e6-1		AFAP1_ENST00000358461.2_Splice_Site|AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000420658.1_Splice_Site			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.?(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTTGATCACCTATAAAAAGC	0.502																																						uc003gkg.1																			2	Unknown(2)		lung(2)		0						c.e7-1		actin filament associated protein 1							88.0	82.0	84.0					4																	7820899		2203	4300	6503	SO:0001630	splice_region_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7820899C>T	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.727-1G>A	4.37:g.7820899C>T						AFAP1_uc011bwk.1_Splice_Site_p.V243_splice	p.V243_splice	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			7	1000	-								A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	ENST00000360265.4	37	c.727_splice	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184249	0.38609	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.639	0.88130	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFAP1	7871799	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	5.571000	0.67404	2.581000	0.87130	0.655000	0.94253	.		PASS	0.502	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	Intron	10	16	10	16	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39322122	39322122	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:39322122C>G	ENST00000381897.1	-	9	1109	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.E326Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	326				E -> K (in Ref. 1; AAA16121). {ECO:0000305}.	DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.E326Q(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGCTCTCTTCTTTTCTTTTC	0.368																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(976-978)GAA>CAA		replication factor C large subunit							76.0	74.0	75.0					4																	39322122		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39322122C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.976G>C	4.37:g.39322122C>G	ENSP00000371321:p.Glu326Gln					RFC1_uc003gtx.1_Missense_Mutation_p.E326Q|RFC1_uc003gtz.1_Missense_Mutation_p.E210Q	p.E326Q	NM_002913	NP_002904	P35251	RFC1_HUMAN			9	1110	-			326	E -> K (in Ref. 1; AAA16121).				A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.976G>C	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.347909	0.05208	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.55234	0.53;0.53	5.91	2.16	0.27623	.	0.542800	0.22431	N	0.060143	T	0.42698	0.1214	L	0.59436	1.845	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.30357	-0.9981	10	0.19590	T	0.45	-11.1967	7.1376	0.25537	0.0:0.6718:0.1208:0.2074	.	326;326	P35251;P35251-2	RFC1_HUMAN;.	Q	326	ENSP00000371321:E326Q;ENSP00000261424:E326Q	ENSP00000261424:E326Q	E	-	1	0	RFC1	38998517	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	3.164000	0.50770	0.086000	0.17137	-1.127000	0.01993	GAA		PASS	0.368	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		13	30	13	30	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71201337	71201337	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:71201337C>T	ENST00000273936.5	+	1	655	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	194					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.S194F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATAATTCCTCCATCAAATCC	0.478																																						uc003hff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)TCC>TTC		testis development protein NYD-SP26							59.0	64.0	62.0					4																	71201337		2199	4297	6496	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201337C>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.581C>T	4.37:g.71201337C>T	ENSP00000273936:p.Ser194Phe						p.S194F	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	667	+		all_hematologic(202;0.196)	194					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.581C>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665828	0.47677	.	.	ENSG00000145309	ENST00000273936	T	0.35605	1.3	4.49	1.82	0.25136	.	1.007310	0.08000	N	0.988653	T	0.26085	0.0636	L	0.34521	1.04	0.09310	N	1	B	0.32101	0.356	B	0.29598	0.104	T	0.28776	-1.0033	10	0.87932	D	0	-16.4962	5.5797	0.17243	0.0:0.6628:0.0:0.3372	.	194	Q96KC9	CABS1_HUMAN	F	194	ENSP00000273936:S194F	ENSP00000273936:S194F	S	+	2	0	CABS1	71235926	0.004000	0.15560	0.001000	0.08648	0.172000	0.22775	0.512000	0.22755	0.639000	0.30564	0.655000	0.94253	TCC		PASS	0.478	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		9	31	9	31	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80329328	80329328	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:80329328C>A	ENST00000358842.3	-	1	44	c.27G>T	c.(25-27)gtG>gtT	p.V9V		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.V9V(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCAACGGCCCCACAGCTGCTG	0.587																																						uc003hlu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(25-27)GTG>GTT		glycerol kinase 2							29.0	30.0	29.0					4																	80329328		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329328C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.27G>T	4.37:g.80329328C>A							p.V9V	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	45	-			9					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.27G>T	CCDS3585.1																																																																																				PASS	0.587	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		12	30	12	30	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110865192	110865192	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:110865192G>A	ENST00000265171.5	+	4	1149	c.704G>A	c.(703-705)gGa>gAa	p.G235E	EGF_ENST00000503392.1_Missense_Mutation_p.G235E|EGF_ENST00000509793.1_Missense_Mutation_p.G235E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	235					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.G235E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GATTATGATGGAGGTTCTGTC	0.343																																						uc003hzy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(703-705)GGA>GAA		epidermal growth factor precursor	Sulindac(DB00605)						112.0	114.0	113.0					4																	110865192		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110865192G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.704G>A	4.37:g.110865192G>A	ENSP00000265171:p.Gly235Glu					EGF_uc011cfu.1_Missense_Mutation_p.G235E|EGF_uc011cfv.1_Missense_Mutation_p.G235E	p.G235E	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	4	1156	+		Hepatocellular(203;0.0893)	235			LDL-receptor class B 4.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.704G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630552	0.96682	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.93426	-3.22;-3.22;-3.22	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97693	1.0180	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	235;235;235	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	E	235	ENSP00000424316:G235E;ENSP00000265171:G235E;ENSP00000421384:G235E	ENSP00000265171:G235E	G	+	2	0	EGF	111084641	1.000000	0.71417	0.498000	0.27564	0.818000	0.46254	6.922000	0.75811	2.709000	0.92574	0.655000	0.94253	GGA		PASS	0.343	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			12	33	12	33	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129867242	129867242	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:129867242G>A	ENST00000281142.5	-	16	1862	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	453					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.F453F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGAAACCAGGAATCTTTGGT	0.348																																						uc003igp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1357-1359)TTC>TTT		sodium channel associated protein 1							108.0	102.0	104.0					4																	129867242		2202	4299	6501	SO:0001819	synonymous_variant	132320					centrosome		g.chr4:129867242G>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1359C>T	4.37:g.129867242G>A						SCLT1_uc003ign.2_Silent_p.F117F|SCLT1_uc003igo.2_Silent_p.F63F|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.F453F	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			16	1865	-			453			Potential.		A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37	c.1359C>T	CCDS3740.1																																																																																				PASS	0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		9	35	9	35	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173734859	173734859	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:173734859C>A	ENST00000506823.1	+	7	1565	c.908C>A	c.(907-909)cCc>cAc	p.P303H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P286H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	303					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P303H(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGGGCAGATCCCAGCGACCCT	0.552																																						uc003isv.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(907-909)CCC>CAC		N-acetylgalactosaminyltransferase-like 6							52.0	52.0	52.0					4																	173734859		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173734859C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.908C>A	4.37:g.173734859C>A	ENSP00000423313:p.Pro303His						p.P303H	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			7	1644	+			303			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.908C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351339	0.82132	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.60424	0.19;0.19	5.97	5.97	0.96955	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.76709	0.4025	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76329	-0.2999	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	303	Q49A17	GLTL6_HUMAN	H	303;286	ENSP00000423313:P303H;ENSP00000423827:P286H	ENSP00000423313:P303H	P	+	2	0	GALNTL6	173971434	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.874000	0.69652	2.836000	0.97738	0.655000	0.94253	CCC		PASS	0.552	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		5	19	5	19	---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175565117	175565117	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr4:175565117G>A	ENST00000274093.3	-	10	1717	c.1215C>T	c.(1213-1215)caC>caT	p.H405H	GLRA3_ENST00000340217.5_Silent_p.H390H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	405					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.H405H(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CCTGGACAGGGTGGTTGGGGC	0.502																																						uc003ity.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1213-1215)CAC>CAT		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						164.0	137.0	146.0					4																	175565117		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565117G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1215C>T	4.37:g.175565117G>A						GLRA3_uc003itz.1_Silent_p.H390H	p.H405H	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1718	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	405			Cytoplasmic (Probable).		D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.1215C>T	CCDS3822.1																																																																																				PASS	0.502	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			27	52	27	52	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31299680	31299680	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:31299680C>A	ENST00000265071.2	+	5	1018	c.753C>A	c.(751-753)acC>acA	p.T251T	CDH6_ENST00000514738.1_Silent_p.T196T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	251	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T251T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TATCTGGGACCACCACCGTGA	0.478																																						uc003jhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(751-753)ACC>ACA		cadherin 6, type 2 preproprotein							149.0	135.0	140.0					5																	31299680		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31299680C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.753C>A	5.37:g.31299680C>A						CDH6_uc003jhd.1_Silent_p.T251T	p.T251T	NM_004932	NP_004923	P55285	CADH6_HUMAN			5	1079	+			251			Extracellular (Potential).|Cadherin 2.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.753C>A	CCDS3894.1																																																																																				PASS	0.478	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		17	50	17	50	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41049468	41049468	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:41049468C>A	ENST00000399564.4	-	14	1865	c.1415G>T	c.(1414-1416)aGt>aTt	p.S472I	MROH2B_ENST00000506092.2_Missense_Mutation_p.S27I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	472								p.S472I(1)									TCTGATGATACTAAACAGGGG	0.483																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1414-1416)AGT>ATT		HEAT repeat family member 7B2							73.0	70.0	71.0					5																	41049468		1921	4134	6055	SO:0001583	missense	133558						binding	g.chr5:41049468C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1415G>T	5.37:g.41049468C>A	ENSP00000382476:p.Ser472Ile					HEATR7B2_uc003jmi.3_Missense_Mutation_p.S27I	p.S472I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			14	1905	-			472					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1415G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	9.146	1.015145	0.19355	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01455	4.87;5.1	5.7	2.06	0.26882	Armadillo-type fold (1);	0.133460	0.34223	N	0.004157	T	0.01222	0.0040	N	0.08118	0	0.24195	N	0.995533	P	0.36249	0.545	B	0.38056	0.264	T	0.50259	-0.8849	10	0.56958	D	0.05	.	7.5716	0.27911	0.0:0.2182:0.0:0.7818	.	472	Q7Z745	HTRB2_HUMAN	I	27;176;472	ENSP00000441504:S27I;ENSP00000382476:S472I	ENSP00000296803:S176I	S	-	2	0	HEATR7B2	41085225	0.691000	0.27709	0.673000	0.29887	0.071000	0.16799	0.342000	0.19926	0.118000	0.18165	-0.142000	0.14014	AGT		PASS	0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	27	9	27	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45695818	45695819	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:45695818_45695819CC>AA	ENST00000303230.4	-	1	434_435	c.377_378GG>TT	c.(376-378)aGG>aTT	p.R126I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	126	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R126I(1)|p.R126S(1)|p.R126M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGTTTTAACCCTTTCCTGCTC	0.584																																						uc003jok.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(376-378)AGG>AGT|c.(376-378)AGG>ATG		hyperpolarization activated cyclic																																				SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695818C>A|g.chr5:45695819C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.377_378delinsAA	5.37:g.45695818_45695819delinsAA	ENSP00000307342:p.Arg126Ile						p.R126S|p.R126M	NM_021072	NP_066550	O60741	HCN1_HUMAN			1	403|402	-			126			Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.378G>T|c.377G>T	CCDS3952.1																																																																																				PASS	0.584	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	21|22	9	21	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56161203	56161203	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:56161203C>T	ENST00000399503.3	+	5	1072	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	358					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L195L(1)|p.L358L(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTGTATTCATCTGCTATTTGT	0.343																																						uc003jqw.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1072-1074)CTG>TTG		mitogen-activated protein kinase kinase kinase							102.0	93.0	96.0					5																	56161203		1831	4082	5913	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56161203C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1072C>T	5.37:g.56161203C>T							p.L358L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	5	1573	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	358			SWIM-type.			Silent	SNP	ENST00000399503.3	37	c.1072C>T	CCDS43318.1																																																																																				PASS	0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		18	69	18	69	---	---	---	---
F2RL1	2150	broad.mit.edu	37	5	76129000	76129000	+	Missense_Mutation	SNP	A	A	G	rs549819353		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:76129000A>G	ENST00000296677.4	+	2	774	c.568A>G	c.(568-570)Att>Gtt	p.I190V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	190					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.I190V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GAAGGCAAACATTGCCATTGG	0.502													A|||	1	0.000199681	0.0	0.0	5008	,	,		23388	0.0		0.001	False		,,,				2504	0.0					uc003keo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(568-570)ATT>GTT		coagulation factor II (thrombin) receptor-like 1							188.0	169.0	175.0					5																	76129000		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129000A>G	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.568A>G	5.37:g.76129000A>G	ENSP00000296677:p.Ile190Val						p.I190V	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	743	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	190			Cytoplasmic (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.568A>G	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	A	4.457	0.084583	0.08583	.	.	ENSG00000164251	ENST00000514165;ENST00000296677	T;T	0.35236	1.32;1.32	5.96	-3.71	0.04424	GPCR, rhodopsin-like superfamily (1);	0.904227	0.09877	N	0.744235	T	0.10337	0.0253	N	0.02202	-0.64	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.27502	-1.0072	10	0.16420	T	0.52	-3.1528	2.2103	0.03946	0.3471:0.2276:0.3152:0.11	.	190	P55085	PAR2_HUMAN	V	96;190	ENSP00000425622:I96V;ENSP00000296677:I190V	ENSP00000296677:I190V	I	+	1	0	F2RL1	76164756	0.008000	0.16893	0.000000	0.03702	0.889000	0.51656	-0.391000	0.07323	-0.648000	0.05437	-0.316000	0.08728	ATT		PASS	0.502	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			29	105	29	105	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79854374	79854374	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:79854374T>A	ENST00000338682.3	-	5	2137	c.1465A>T	c.(1465-1467)Aaa>Taa	p.K489*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	489						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K489*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTGAATTCTTTAGGGAAAATC	0.353																																						uc010jam.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1465-1467)AAA>TAA		ankyrin repeat domain 34B							96.0	99.0	98.0					5																	79854374		2203	4300	6503	SO:0001587	stop_gained	340120					cytoplasm|nucleus		g.chr5:79854374T>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1465A>T	5.37:g.79854374T>A	ENSP00000339802:p.Lys489*					ANKRD34B_uc003kgw.2_Nonsense_Mutation_p.K489*|ANKRD34B_uc010jan.2_Nonsense_Mutation_p.K489*	p.K489*	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1815	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	489					B2RPH1|Q68D79	Nonsense_Mutation	SNP	ENST00000338682.3	37	c.1465A>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	44	10.738741	0.99459	.	.	ENSG00000189127	ENST00000338682	.	.	.	6.04	6.04	0.98038	.	0.436421	0.22088	N	0.064789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.695	15.4235	0.75031	0.0:0.0:0.0:1.0	.	.	.	.	X	489	.	ENSP00000339802:K489X	K	-	1	0	ANKRD34B	79890130	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.933000	0.63484	2.317000	0.78254	0.460000	0.39030	AAA		PASS	0.353	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		23	98	23	98	---	---	---	---
ATP6AP1L	92270	broad.mit.edu	37	5	81608539	81608539	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:81608539G>T	ENST00000380167.4	+	9	1566	c.241G>T	c.(241-243)Gta>Tta	p.V81L	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.V81L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	81					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.V81L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAACTGGCGTATATGCTCC	0.532											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003khv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GTA>TTA		ATPase, H+ transporting, lysosomal accessory							180.0	173.0	175.0					5																	81608539		2203	4300	6503	SO:0001583	missense	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608539G>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.241G>T	5.37:g.81608539G>T	ENSP00000369513:p.Val81Leu		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_uc003khw.2_Missense_Mutation_p.V81L	p.V81L	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN			9	1566	+			81						Missense_Mutation	SNP	ENST00000380167.4	37	c.241G>T	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360048	0.24598	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.68	0.654	0.17833	.	0.327867	0.32258	N	0.006356	T	0.38026	0.1025	L	0.57536	1.79	0.28586	N	0.909907	B	0.06786	0.001	B	0.09377	0.004	T	0.27971	-1.0058	9	0.48119	T	0.1	.	6.2751	0.20977	0.6824:0.1231:0.1945:0.0	.	81	Q52LC2	VAS1L_HUMAN	L	81	.	ENSP00000369513:V81L	V	+	1	0	ATP6AP1L	81644295	0.993000	0.37304	0.266000	0.24541	0.002000	0.02628	2.404000	0.44539	-0.098000	0.12285	-0.979000	0.02580	GTA		PASS	0.532	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		35	129	35	129	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127729062	127729062	+	Splice_Site	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:127729062C>A	ENST00000508053.1	-	16	2206		c.e16-1		FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508989.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGATATTCCTCTAGAAGAAAA	0.463																																						uc003kuu.2																			2	Unknown(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e10-1		fibrillin 2 precursor							47.0	45.0	46.0					5																	127729062		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127729062C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1232-1G>T	5.37:g.127729062C>A						FBN2_uc003kuv.2_Splice_Site_p.E378_splice	p.E411_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1671	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.1232_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621040	0.28889	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.66	0.88189	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127756961	1.000000	0.71417	0.983000	0.44433	0.219000	0.24729	5.559000	0.67326	2.574000	0.86865	0.655000	0.94253	.		PASS	0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	4	41	4	41	---	---	---	---
PKD2L2	27039	broad.mit.edu	37	5	137257368	137257368	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:137257368G>A	ENST00000508883.1	+	9	1398	c.1372G>A	c.(1372-1374)Ggt>Agt	p.G458S	PKD2L2_ENST00000350250.4_Missense_Mutation_p.G424S|PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000502810.1_Missense_Mutation_p.G436S|PKD2L2_ENST00000290431.5_Missense_Mutation_p.G458S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	458					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.G458S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATTTTGCTGGTATTCAGCA	0.318																																						uc003lby.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)GGT>AGT		polycystic kidney disease 2-like 2							165.0	149.0	154.0					5																	137257368		1803	4069	5872	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137257368G>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1372G>A	5.37:g.137257368G>A	ENSP00000424725:p.Gly458Ser					PKD2L2_uc003lbw.1_Missense_Mutation_p.G458S|PKD2L2_uc003lbx.2_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.G66S	p.G458S	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	1428	+			458			Extracellular (Potential).		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1372G>A		.	.	.	.	.	.	.	.	.	.	G	13.84	2.356403	0.41700	.	.	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.89	4.92	0.64577	Polycystin cation channel, PKD1/PKD2 (1);	0.236571	0.36778	N	0.002412	T	0.36413	0.0966	N	0.02721	-0.515	0.33848	D	0.632243	B;B	0.24721	0.001;0.11	B;B	0.21151	0.012;0.033	T	0.45745	-0.9240	10	0.20046	T	0.44	-5.5389	7.4852	0.27427	0.1807:0.0:0.8193:0.0	.	458;458	Q9NZM6;Q9NZM6-5	PK2L2_HUMAN;.	S	424;436;458;458	ENSP00000344177:G424S;ENSP00000425513:G436S;ENSP00000424725:G458S;ENSP00000290431:G458S	ENSP00000290431:G458S	G	+	1	0	PKD2L2	137285267	0.274000	0.24191	1.000000	0.80357	0.998000	0.95712	2.048000	0.41278	2.797000	0.96272	0.563000	0.77884	GGT		PASS	0.318	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		11	53	11	53	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554381	140554381	+	Silent	SNP	C	C	T	rs17844474		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:140554381C>T	ENST00000231137.3	+	1	2139	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.711																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1963-1965)ACC>ACT		protocadherin beta 7 precursor							27.0	44.0	38.0					5																	140554381		2110	4214	6324	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554381C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1965C>T	5.37:g.140554381C>T							p.T655T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2139	+			655			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1965C>T	CCDS4249.1																																																																																				PASS	0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		18	83	18	83	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572222	140572222	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:140572222T>A	ENST00000239446.4	+	1	281	c.97T>A	c.(97-99)Tat>Aat	p.Y33N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	33					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.Y33N(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)			GTTTGGACGTTATTCGGTGAC	0.507																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(97-99)TAT>AAT		protocadherin beta 10 precursor							84.0	94.0	91.0					5																	140572222		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.chr5:140572222T>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.97T>A	5.37:g.140572222T>A	ENSP00000239446:p.Tyr33Asn						p.Y33N	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	271	+			33			Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.97T>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	31	5.089436	0.94149	.	.	ENSG00000120324	ENST00000239446	T	0.58358	0.34	3.35	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	D	0.82513	0.5053	H	0.99197	4.465	0.41508	D	0.98832	D	0.89917	1.0	D	0.97110	1.0	D	0.88606	0.3153	9	0.87932	D	0	.	12.0203	0.53340	0.0:0.0:0.0:1.0	.	33	Q9UN67	PCDBA_HUMAN	N	33	ENSP00000239446:Y33N	ENSP00000239446:Y33N	Y	+	1	0	PCDHB10	140552406	1.000000	0.71417	0.046000	0.18839	0.883000	0.51084	7.709000	0.84645	1.568000	0.49683	0.449000	0.29647	TAT		PASS	0.507	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		29	74	29	74	---	---	---	---
SPINK7	84651	broad.mit.edu	37	5	147693698	147693698	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:147693698G>A	ENST00000274565.4	+	3	184	c.123G>A	c.(121-123)gtG>gtA	p.V41V	SPINK7_ENST00000523535.1_Silent_p.V15V|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	41	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V41V(1)		large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGTGGTGGCCATCCCCT	0.473																																						uc003lpd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)GTG>GTA		serine peptidase inhibitor, Kazal type 7							248.0	207.0	221.0					5																	147693698		2203	4300	6503	SO:0001819	synonymous_variant	84651					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147693698G>A		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"""Serine peptidase inhibitors, Kazal type"""	24643	protein-coding gene	gene with protein product	"""esophagus cancer related gene 2"""					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.123G>A	5.37:g.147693698G>A						uc003lpb.1_Intron	p.V41V	NM_032566	NP_115955	P58062	ISK7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	180	+			41			Kazal-like.		Q32LY0	Silent	SNP	ENST00000274565.4	37	c.123G>A	CCDS4289.1																																																																																				PASS	0.473	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251944.5	NM_032566		22	124	22	124	---	---	---	---
RBM22	55696	broad.mit.edu	37	5	150072543	150072543	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:150072543T>A	ENST00000199814.4	-	10	1167	c.1046A>T	c.(1045-1047)tAc>tTc	p.Y349F	RBM22_ENST00000540000.1_Missense_Mutation_p.Y300F|RBM22_ENST00000447771.2_Missense_Mutation_p.Y300F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	349	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.Y349F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGTTGAAGTAGTTGGCAGA	0.547																																						uc003lst.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)TAC>TTC		RNA binding motif protein 22							56.0	62.0	60.0					5																	150072543		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150072543T>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1046A>T	5.37:g.150072543T>A	ENSP00000199814:p.Tyr349Phe						p.Y349F	NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1168	-		Medulloblastoma(196;0.167)	349			Pro-rich.		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.1046A>T	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319657	0.60524	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.91	5.91	0.95273	.	0.107631	0.64402	D	0.000003	T	0.61553	0.2356	L	0.31065	0.9	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.55224	-0.8174	9	0.12430	T	0.62	-5.6332	16.3483	0.83171	0.0:0.0:0.0:1.0	.	349	Q9NW64	RBM22_HUMAN	F	349;300;300	.	ENSP00000199814:Y349F	Y	-	2	0	RBM22	150052736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.254000	0.74563	0.533000	0.62120	TAC		PASS	0.547	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		12	39	12	39	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160886795	160886795	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr5:160886795T>C	ENST00000393959.1	-	4	292	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	GABRB2_ENST00000274547.2_Missense_Mutation_p.Y98C|GABRB2_ENST00000353437.6_Missense_Mutation_p.Y98C|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.Y98C|GABRB2_ENST00000517901.1_Missense_Mutation_p.Y35C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	98					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.Y98C(2)		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)	TATTACATTATAGGACAGCCT	0.403																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(292-294)TAT>TGT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						79.0	75.0	77.0					5																	160886795		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.chr5:160886795T>C		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.293A>G	5.37:g.160886795T>C	ENSP00000377531:p.Tyr98Cys					GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.Y98C|GABRB2_uc003lyt.1_Missense_Mutation_p.Y98C|GABRB2_uc010jiu.1_Missense_Mutation_p.Y35C|GABRB2_uc011dei.1_Missense_Mutation_p.Y98C	p.Y98C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	511	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	98			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.293A>G	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312783	0.81358	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.992;0.996	D	0.93088	0.6497	10	0.87932	D	0	.	14.9655	0.71188	0.0:0.0:0.0:1.0	.	98;35;98;98	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	98;98;98;98;35	ENSP00000377531:Y98C;ENSP00000274547:Y98C;ENSP00000274546:Y98C;ENSP00000429320:Y98C;ENSP00000430532:Y35C	ENSP00000274547:Y98C	Y	-	2	0	GABRB2	160819373	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.903000	0.87398	1.988000	0.58038	0.533000	0.62120	TAT		PASS	0.403	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			13	39	13	39	---	---	---	---
HIST1H3F	8968	broad.mit.edu	37	6	26250687	26250687	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:26250687G>A	ENST00000446824.2	-	1	148	c.147C>T	c.(145-147)ctC>ctT	p.L49L	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	49					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.L49L(1)		lung(6)|urinary_tract(1)	7						GGATTTCACGGAGGGCGACAG	0.617																																						uc003nhg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)CTC>CTT		histone cluster 1, H3f							103.0	106.0	105.0					6																	26250687		2203	4300	6503	SO:0001819	synonymous_variant	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250687G>A	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.147C>T	6.37:g.26250687G>A						HIST1H2BH_uc003nhh.2_5'Flank	p.L49L	NM_021018	NP_066298	P68431	H31_HUMAN			1	149	-			49					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000446824.2	37	c.147C>T	CCDS4600.1																																																																																				PASS	0.617	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		14	96	14	96	---	---	---	---
OR2H1	26716	broad.mit.edu	37	6	29430068	29430068	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:29430068C>G	ENST00000377136.1	+	4	987	c.522C>G	c.(520-522)gaC>gaG	p.D174E	OR2H1_ENST00000442615.1_Missense_Mutation_p.D174E|OR2H1_ENST00000377133.1_Missense_Mutation_p.D174E|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.D174E|OR2H1_ENST00000377132.1_Missense_Mutation_p.D174E			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D174E(1)		large_intestine(5)|lung(12)	17						AGATAGATGACTTTTTATGTG	0.507																																						uc003nmi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAC>GAG		olfactory receptor, family 2, subfamily H,							199.0	213.0	208.0					6																	29430068		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430068C>G	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.522C>G	6.37:g.29430068C>G	ENSP00000366340:p.Asp174Glu					OR2H1_uc003nmj.1_Missense_Mutation_p.D174E|OR2H1_uc010jri.1_Missense_Mutation_p.D96E	p.D174E	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	965	+			174			Extracellular (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.522C>G	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	6.118	0.390003	0.11581	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00063	8.78;8.78;8.78;8.78;8.78	2.81	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	0.167587	0.28290	N	0.015896	T	0.00073	0.0002	L	0.46157	1.445	0.09310	N	1	P	0.52316	0.952	P	0.51657	0.676	T	0.48917	-0.8992	10	0.87932	D	0	.	1.9021	0.03270	0.1079:0.3401:0.2142:0.3377	.	174	Q9GZK4	OR2H1_HUMAN	E	174	ENSP00000366340:D174E;ENSP00000366337:D174E;ENSP00000393254:D174E;ENSP00000366336:D174E;ENSP00000380010:D174E	ENSP00000366336:D174E	D	+	3	2	OR2H1	29538047	0.000000	0.05858	0.133000	0.22050	0.004000	0.04260	-2.925000	0.00691	-0.937000	0.03719	-2.177000	0.00319	GAC		PASS	0.507	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			75	107	75	107	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985396	34985397	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:34985396_34985397GG>CT	ENST00000360359.3	+	11	1708_1709	c.1570_1571GG>CT	c.(1570-1572)GGc>CTc	p.G524L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	524					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.G524V(1)|p.G524L(1)|p.G524R(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTACCGCTGGCCAGAGCCAT	0.693																																						uc003ojx.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1570-1572)GGC>CGC|c.(1570-1572)GGC>GTC		ankyrin repeat and sterile alpha motif domain																																				SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985396G>C|g.chr6:34985397G>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	Exception_encountered	6.37:g.34985396_34985397delinsCT	ENSP00000353518:p.Gly524Leu					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.G64R|ANKS1A_uc010jvp.1_Intron|ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.G64V|ANKS1A_uc010jvp.1_Intron	p.G524R|p.G524V	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	1712|1713	+			524					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1570G>C|c.1571G>T	CCDS4798.1																																																																																				PASS	0.693	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		11|12	14|13	11	13	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204709	66204709	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:66204709T>C	ENST00000370621.3	-	4	1121	c.595A>G	c.(595-597)Agc>Ggc	p.S199G	EYS_ENST00000393380.2_Missense_Mutation_p.S199G|EYS_ENST00000503581.1_Missense_Mutation_p.S199G|EYS_ENST00000342421.5_Missense_Mutation_p.S199G|EYS_ENST00000370618.3_Missense_Mutation_p.S199G|EYS_ENST00000370616.2_Missense_Mutation_p.S199G			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	199	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S199G(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAATGGCAGCTATATGTCTTG	0.393																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(595-597)AGC>GGC		eyes shut homolog isoform 1							46.0	44.0	45.0					6																	66204709		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204709T>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.595A>G	6.37:g.66204709T>C	ENSP00000359655:p.Ser199Gly					EYS_uc003peq.2_Missense_Mutation_p.S199G|EYS_uc003per.1_Missense_Mutation_p.S199G|EYS_uc010kaj.1_RNA	p.S199G	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	1133	-			199			EGF-like 1.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.595A>G		.	.	.	.	.	.	.	.	.	.	T	9.206	1.029750	0.19512	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.81	3.48	0.39840	.	.	.	.	.	T	0.61961	0.2389	N	0.19112	0.55	0.09310	N	1	B;P;P	0.49185	0.386;0.557;0.92	B;B;B	0.41374	0.085;0.178;0.355	T	0.51426	-0.8707	9	0.26408	T	0.33	.	6.6544	0.22979	0.0:0.1554:0.0:0.8446	.	199;199;199	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	G	199	ENSP00000424243:S199G;ENSP00000359655:S199G;ENSP00000359650:S199G;ENSP00000377042:S199G;ENSP00000341818:S199G;ENSP00000359652:S199G	ENSP00000341818:S199G	S	-	1	0	EYS	66261430	0.188000	0.23250	0.028000	0.17463	0.713000	0.41058	1.174000	0.31932	1.906000	0.55180	0.482000	0.46254	AGC		PASS	0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		15	36	15	36	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76744486	76744486	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:76744486C>A	ENST00000369950.3	-	3	509	c.320G>T	c.(319-321)tGg>tTg	p.W107L	IMPG1_ENST00000369963.3_Missense_Mutation_p.W29L	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.W107L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATATGCTTCCCATACTGCTTC	0.483																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(319-321)TGG>TTG		interphotoreceptor matrix proteoglycan 1							84.0	77.0	79.0					6																	76744486		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744486C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.320G>T	6.37:g.76744486C>A	ENSP00000358966:p.Trp107Leu						p.W107L	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			3	450	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	107						Missense_Mutation	SNP	ENST00000369950.3	37	c.320G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017717	0.93404	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;D	0.83419	-1.08;-1.72	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	D	0.91209	0.7230	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90440	0.4431	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	107	Q17R60	IMPG1_HUMAN	L	107;29	ENSP00000358966:W107L;ENSP00000358980:W29L	.	W	-	2	0	IMPG1	76801206	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.442000	0.80503	2.720000	0.93068	0.557000	0.71058	TGG		PASS	0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		11	28	11	28	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86194989	86194989	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:86194989A>T	ENST00000257770.3	+	4	837	c.788A>T	c.(787-789)tAc>tTc	p.Y263F	NT5E_ENST00000369651.3_Missense_Mutation_p.Y263F	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	263					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Y263F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GCTGGGAAGTACCCATTCATA	0.483																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(787-789)TAC>TTC		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						110.0	93.0	99.0					6																	86194989		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86194989A>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.788A>T	6.37:g.86194989A>T	ENSP00000257770:p.Tyr263Phe					NT5E_uc010kbr.2_Missense_Mutation_p.Y263F	p.Y263F	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	1344	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	263					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.788A>T	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.073387|5.073387	0.94000|0.94000	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334|ENST00000369647;ENST00000257770;ENST00000369651	.|T;T	.|0.61627	.|0.17;0.09	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79616|0.79616	0.4476|0.4476	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85125|0.85125	0.0971|0.0971	5|10	.|0.56958	.|D	.|0.05	-13.9712|-13.9712	15.833|15.833	0.78773|0.78773	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|263;263	.|B3KQI8;P21589	.|.;5NTD_HUMAN	S|F	28|39;263;263	.|ENSP00000257770:Y263F;ENSP00000358665:Y263F	.|ENSP00000257770:Y263F	T|Y	+|+	1|2	0|0	NT5E|NT5E	86251708|86251708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.803000|8.803000	0.91915|0.91915	2.138000|2.138000	0.66242|0.66242	0.379000|0.379000	0.24179|0.24179	ACC|TAC		PASS	0.483	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			10	47	10	47	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20198665	20198665	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:20198665C>A	ENST00000400331.5	-	5	1627	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	MACC1_ENST00000589011.1_Missense_Mutation_p.C440F|MACC1_ENST00000332878.4_Missense_Mutation_p.C440F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	440					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C440F(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATCAGGATCACAGGAAAAAAT	0.348																																						uc003sus.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1318-1320)TGT>TTT		putative binding protein 7a5							56.0	50.0	52.0					7																	20198665		2203	4299	6502	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198665C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1319G>T	7.37:g.20198665C>A	ENSP00000383185:p.Cys440Phe					MACC1_uc010kug.2_Missense_Mutation_p.C440F	p.C440F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1628	-			440					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1319G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180346	0.21787	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09538	2.97;2.97	5.72	4.65	0.58169	.	0.695778	0.16125	N	0.228446	T	0.12518	0.0304	M	0.65975	2.015	0.23464	N	0.997621	P	0.45283	0.855	B	0.35859	0.212	T	0.21211	-1.0252	10	0.49607	T	0.09	-13.7956	12.0247	0.53362	0.0:0.853:0.0:0.147	.	440	Q6ZN28	MACC1_HUMAN	F	440	ENSP00000383185:C440F;ENSP00000328410:C440F	ENSP00000328410:C440F	C	-	2	0	MACC1	20165190	0.796000	0.28864	0.998000	0.56505	0.786000	0.44442	0.993000	0.29680	2.689000	0.91719	0.591000	0.81541	TGT		PASS	0.348	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		7	42	7	42	---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44880514	44880514	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:44880514T>C	ENST00000308153.4	-	3	270	c.179A>G	c.(178-180)gAg>gGg	p.E60G	H2AFV_ENST00000446531.1_Missense_Mutation_p.E60G|H2AFV_ENST00000521529.1_Missense_Mutation_p.E34G|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000381124.5_Missense_Mutation_p.E60G|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.E34G|H2AFV_ENST00000222690.6_Missense_Mutation_p.E60G	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	60						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E60G(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						AGTGAGGTACTCCAGAATCGC	0.502																																						uc003tma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GAG>GGG		H2A histone family, member V isoform 1							108.0	90.0	96.0					7																	44880514		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44880514T>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.179A>G	7.37:g.44880514T>C	ENSP00000308405:p.Glu60Gly					H2AFV_uc003tlz.2_Missense_Mutation_p.E60G|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Missense_Mutation_p.E60G|H2AFV_uc003tmd.2_Missense_Mutation_p.E34G	p.E60G	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			3	334	-			60					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.179A>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583850	0.86748	.	.	ENSG00000105968	ENST00000222690;ENST00000308153;ENST00000350771;ENST00000381124;ENST00000521529;ENST00000446531	D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.31	5.31	0.75309	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.97660	0.9233	H	0.99058	4.415	0.80722	D	1	P;D;D	0.89917	0.934;0.999;1.0	P;P;D	0.74023	0.861;0.832;0.982	D	0.98735	1.0714	9	0.87932	D	0	-33.8746	13.2207	0.59885	0.0:0.0:0.0:1.0	.	34;60;60	A6NKY0;Q71UI9;A6NN01	.;H2AV_HUMAN;.	G	60;60;34;60;34;60	ENSP00000222690:E60G;ENSP00000308405:E60G;ENSP00000340708:E34G;ENSP00000370516:E60G;ENSP00000430492:E34G;ENSP00000406901:E60G	ENSP00000222690:E60G	E	-	2	0	H2AFV	44847039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.465000	0.80898	2.025000	0.59659	0.460000	0.39030	GAG		PASS	0.502	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		3	18	3	18	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48086089	48086089	+	Missense_Mutation	SNP	T	T	A	rs376223715		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:48086089T>A	ENST00000348904.3	+	5	595	c.383T>A	c.(382-384)gTt>gAt	p.V128D	C7orf57_ENST00000539619.1_Missense_Mutation_p.V128D|C7orf57_ENST00000430738.1_Missense_Mutation_p.V173D|C7orf57_ENST00000435376.1_Missense_Mutation_p.V6D|C7orf57_ENST00000420324.1_Missense_Mutation_p.V173D	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	128								p.V128D(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GATTACATGGTTCATGAAGAA	0.517																																						uc003toh.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(382-384)GTT>GAT		hypothetical protein LOC136288							63.0	61.0	62.0					7																	48086089		2049	4182	6231	SO:0001583	missense	136288							g.chr7:48086089T>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.383T>A	7.37:g.48086089T>A	ENSP00000335500:p.Val128Asp					C7orf57_uc003toi.3_Missense_Mutation_p.V2D	p.V128D	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			5	595	+			128					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.383T>A	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291315	0.80914	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.34	5.34	0.76211	.	0.096867	0.43919	D	0.000518	T	0.66645	0.2810	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.965	T	0.70626	-0.4820	10	0.87932	D	0	-25.3409	13.5496	0.61723	0.0:0.0:0.0:1.0	.	6;128	C9JBJ8;Q8NEG2	.;CG057_HUMAN	D	173;6;173;128;128	ENSP00000394648:V173D;ENSP00000391652:V6D;ENSP00000410944:V173D;ENSP00000335500:V128D;ENSP00000442474:V128D	ENSP00000335500:V128D	V	+	2	0	C7orf57	48052614	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	4.949000	0.63596	2.135000	0.66039	0.533000	0.62120	GTT		PASS	0.517	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		8	13	8	13	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187608	57187608	+	Missense_Mutation	SNP	T	T	C	rs201692022		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:57187608T>C	ENST00000331162.4	-	5	1784	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	505					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.H505R(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGACTTGAATGCCACTTAAA	0.368																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1513-1515)CAT>CGT		zinc finger protein 479		T	ARG/HIS	0,4102		0,0,2051	41.0	41.0	41.0		1514	-1.8	0.0	7		41	1,8467		0,1,4233	no	missense	ZNF479	NM_033273.1	29	0,1,6284	CC,CT,TT		0.0118,0.0,0.0080	possibly-damaging	505/525	57187608	1,12569	2051	4234	6285	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187608T>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1514A>G	7.37:g.57187608T>C	ENSP00000333776:p.His505Arg						p.H505R	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1785	-			505			C2H2-type 12.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1514A>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	-	0.704	-0.789623	0.02884	0.0	1.18E-4	ENSG00000185177	ENST00000331162	T	0.21932	1.98	0.888	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	N	0.05351	-0.065	0.09310	N	1	P	0.34462	0.454	B	0.23275	0.045	T	0.20505	-1.0273	9	0.45353	T	0.12	.	4.1002	0.10010	0.3046:0.0:0.0:0.6953	.	505	Q96JC4	ZN479_HUMAN	R	505	ENSP00000333776:H505R	ENSP00000333776:H505R	H	-	2	0	ZNF479	57191550	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-3.499000	0.00450	-0.926000	0.03770	-1.024000	0.02432	CAT		PASS	0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		3	60	3	60	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042534	90042534	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:90042534G>T	ENST00000287916.4	+	3	831	c.544G>T	c.(544-546)Gct>Tct	p.A182S	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Missense_Mutation_p.A182S|CLDN12_ENST00000394605.2_Missense_Mutation_p.A182S	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	182					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A182S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TATTGCTAGTGCTGGGGGCCT	0.413																																						uc003ukp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GCT>TCT		claudin 12							179.0	174.0	175.0					7																	90042534		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042534G>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.544G>T	7.37:g.90042534G>T	ENSP00000287916:p.Ala182Ser					CLDN12_uc003ukq.2_Missense_Mutation_p.A182S|CLDN12_uc010leq.2_Missense_Mutation_p.A182S|CLDN12_uc003ukr.2_Missense_Mutation_p.A182S|CLDN12_uc003uks.2_Missense_Mutation_p.A182S	p.A182S	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1180	+			182			Helical; (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.544G>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	G	7.432	0.638966	0.14386	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-0.85;-1.05	5.45	2.28	0.28536	.	0.350716	0.32736	N	0.005720	T	0.57784	0.2077	N	0.11560	0.145	0.34972	D	0.753249	B	0.02656	0.0	B	0.04013	0.001	T	0.55617	-0.8113	10	0.14252	T	0.57	-7.0687	14.8003	0.69909	0.0:0.0:0.5237:0.4763	.	182	P56749	CLD12_HUMAN	S	182	ENSP00000419053:A182S;ENSP00000287916:A182S;ENSP00000443476:A182S;ENSP00000378102:A182S;ENSP00000378103:A182S	ENSP00000287916:A182S	A	+	1	0	CLDN12	89880470	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.245000	0.43133	0.781000	0.33589	0.655000	0.94253	GCT		PASS	0.413	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		52	147	52	147	---	---	---	---
TAC1	6863	broad.mit.edu	37	7	97361961	97361961	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:97361961G>C	ENST00000319273.5	+	2	334	c.37G>C	c.(37-39)Gtc>Ctc	p.V13L	TAC1_ENST00000350485.4_Missense_Mutation_p.V13L|TAC1_ENST00000346867.4_Missense_Mutation_p.V13L	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	13					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V13L(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					CTTTTTTCTTGTCTCCACTCA	0.468																																						uc003uop.3																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GTC>CTC		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						159.0	150.0	153.0					7																	97361961		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97361961G>C	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.37G>C	7.37:g.97361961G>C	ENSP00000321106:p.Val13Leu					TAC1_uc003uoq.3_Missense_Mutation_p.V13L|TAC1_uc003uor.3_Missense_Mutation_p.V13L|TAC1_uc003uos.3_Missense_Mutation_p.V13L	p.V13L	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	283	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		13					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.37G>C	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513944	0.44763	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.09	-0.982	0.10266	.	0.393184	0.27811	N	0.017748	T	0.24661	0.0598	L	0.29908	0.895	0.26766	N	0.969909	B;B;B;B	0.15141	0.002;0.012;0.012;0.005	B;B;B;B	0.17098	0.009;0.011;0.017;0.004	T	0.11012	-1.0605	9	0.62326	D	0.03	-3.4822	4.3328	0.11071	0.4233:0.0:0.4259:0.1509	.	13;13;13;13	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	L	13	.	ENSP00000321106:V13L	V	+	1	0	TAC1	97199897	0.002000	0.14202	0.547000	0.28179	0.936000	0.57629	-0.076000	0.11412	-0.293000	0.08986	0.561000	0.74099	GTC		PASS	0.468	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		17	104	17	104	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551257	100551257	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:100551257C>A	ENST00000319509.7	+	1	8	c.8C>A	c.(7-9)tCc>tAc	p.S3Y				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1668					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.S3Y(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCATCTACTCCACAGTCAGC	0.512																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							198.0	187.0	190.0					7																	100551257		876	1991	2867	SO:0001583	missense	0							g.chr7:100551257C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.8C>A	7.37:g.100551257C>A	ENSP00000324834:p.Ser3Tyr					uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.508C>A		.	.	.	.	.	.	.	.	.	.	C	11.33	1.608318	0.28623	.	.	ENSG00000169894	ENST00000319509	T	0.12255	2.7	1.67	1.67	0.24075	.	.	.	.	.	T	0.08935	0.0221	N	0.08118	0	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.20371	-1.0277	6	0.56958	D	0.05	.	9.3207	0.37962	0.0:1.0:0.0:0.0	.	.	.	.	Y	3	ENSP00000324834:S3Y	ENSP00000324834:S3Y	S	+	2	0	MUC3A	100389193	0.003000	0.15002	0.323000	0.25347	0.330000	0.28571	1.702000	0.37836	1.254000	0.44035	0.289000	0.19496	TCC		PASS	0.512	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		19	79	19	79	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107434225	107434225	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:107434225A>G	ENST00000340010.5	-	3	417	c.233T>C	c.(232-234)gTt>gCt	p.V78A	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V43A	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	78					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.V78A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATACCAGAAACAATATCACT	0.388																																						uc003ver.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(232-234)GTT>GCT		solute carrier family 26, member 3							78.0	73.0	75.0					7																	107434225		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434225A>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.233T>C	7.37:g.107434225A>G	ENSP00000345873:p.Val78Ala					SLC26A3_uc003ves.2_Missense_Mutation_p.V43A	p.V78A	NM_000111	NP_000102	P40879	S26A3_HUMAN			3	444	-			78			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.233T>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088490	0.76756	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91996	-2.95;-2.95;-2.95	5.63	5.63	0.86233	.	0.054364	0.64402	D	0.000001	D	0.95392	0.8504	M	0.74467	2.265	0.53005	D	0.999964	D;D	0.67145	0.996;0.995	D;D	0.65140	0.919;0.932	D	0.95714	0.8760	10	0.66056	D	0.02	.	15.838	0.78814	1.0:0.0:0.0:0.0	.	43;78	G5E9U3;P40879	.;S26A3_HUMAN	A	43;78;78	ENSP00000415817:V43A;ENSP00000345873:V78A;ENSP00000395955:V78A	ENSP00000345873:V78A	V	-	2	0	SLC26A3	107221461	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	8.634000	0.91002	2.148000	0.66965	0.402000	0.26972	GTT		PASS	0.388	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		12	25	12	25	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122047603	122047603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:122047603G>A	ENST00000449022.2	-	20	2756	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.R911*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.R907*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.R907*|RP5-1101C3.1_ENST00000591140.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	913	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R910*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGTCATTTCGGAGGAAATTA	0.438																																						uc010lkp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2737-2739)CGA>TGA		Ca2+-dependent activator protein for secretion 2							40.0	40.0	40.0					7																	122047603		1971	4169	6140	SO:0001587	stop_gained	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122047603G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2737C>T	7.37:g.122047603G>A	ENSP00000398481:p.Arg913*					CADPS2_uc011knx.1_Nonsense_Mutation_p.R288*|CADPS2_uc003vkg.3_Nonsense_Mutation_p.R607*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.R907*	p.R913*	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			19	2900	-			913			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	c.2737C>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.220311|11.220311	0.99532|0.99532	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|.	.|.	.|.	5.14|5.14	-0.417|-0.417	0.12347|0.12347	.|.	.|0.060753	.|0.64402	.|D	.|0.000007	T|.	0.31071|.	0.0785|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40831|.	-0.9542|.	3|.	.|0.02654	.|T	.|1	-16.5097|-16.5097	14.3358|14.3358	0.66589|0.66589	0.0:0.0:0.5177:0.4822|0.0:0.0:0.5177:0.4822	.|.	.|.	.|.	.|.	L|X	555|86;907;911;918;874;907;913	.|.	.|ENSP00000325581:R907X	P|R	-|-	2|1	0|2	CADPS2|CADPS2	121834839|121834839	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	1.930000|1.930000	0.40124|0.40124	-0.229000|-0.229000	0.09854|0.09854	-0.262000|-0.262000	0.10625|0.10625	CCG|CGA		PASS	0.438	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	19	3	19	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812382	133812382	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:133812382G>C	ENST00000285928.2	+	1	331	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	88						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.E88Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGGGATCCGAGGAGTCCTC	0.617																																						uc003vrm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(262-264)GAG>CAG		leucine-rich repeats and guanylate kinase domain							89.0	85.0	87.0					7																	133812382		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812382G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.262G>C	7.37:g.133812382G>C	ENSP00000285928:p.Glu88Gln						p.E88Q	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	278	+			88					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.262G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265557	0.40095	.	.	ENSG00000155530	ENST00000285928	T	0.39229	1.09	3.95	2.04	0.26737	.	0.684834	0.13209	N	0.405352	T	0.51805	0.1696	M	0.63428	1.95	0.09310	N	1	D	0.63880	0.993	P	0.56788	0.806	T	0.36286	-0.9754	10	0.52906	T	0.07	-3.6927	8.771	0.34733	0.0:0.0:0.5891:0.4109	.	88	Q96M69	LRGUK_HUMAN	Q	88	ENSP00000285928:E88Q	ENSP00000285928:E88Q	E	+	1	0	LRGUK	133462922	0.606000	0.26949	0.154000	0.22540	0.171000	0.22731	0.581000	0.23819	0.563000	0.29222	0.655000	0.94253	GAG		PASS	0.617	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		8	29	8	29	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149493523	149493523	+	RNA	SNP	C	C	A	rs372414600		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr7:149493523C>A	ENST00000378016.2	+	0	6599							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGGTGCAGGCGAGGTTTGTC	0.627																																						uc010lpk.2																			0					0						c.(6598-6600)GCG>GAG		SCO-spondin precursor							101.0	115.0	110.0					7																	149493523		2146	4246	6392			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493523C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493523C>A							p.A2200E	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		45	6599	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2200			F5/8 type C.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6599C>A																																																																																					PASS	0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	53	3	53	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21844713	21844713	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:21844713G>A	ENST00000252512.9	+	14	1739	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	XPO7_ENST00000433566.4_Missense_Mutation_p.E548K|XPO7_ENST00000434536.1_Missense_Mutation_p.E556K	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	547					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.E547K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAGAAGCTAGAGTTGGCCAT	0.493																																						uc003xaa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1639-1641)GAG>AAG		exportin 7 isoform b							152.0	154.0	153.0					8																	21844713		1942	4124	6066	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21844713G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1639G>A	8.37:g.21844713G>A	ENSP00000252512:p.Glu547Lys					XPO7_uc010lti.2_Missense_Mutation_p.E556K|XPO7_uc010ltk.2_Missense_Mutation_p.E548K	p.E547K	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	14	1741	+			547					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1639G>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006137	0.93287	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.64085	-0.08;-0.08;-0.08	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81432	0.4821	M	0.84773	2.715	0.80722	D	1	D;D;D	0.71674	0.998;0.981;0.981	D;D;D	0.67231	0.927;0.95;0.95	T	0.81280	-0.1004	10	0.44086	T	0.13	-12.8385	19.6228	0.95665	0.0:0.0:1.0:0.0	.	548;556;547	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	K	556;547;548	ENSP00000404853:E556K;ENSP00000252512:E547K;ENSP00000410249:E548K	ENSP00000252512:E547K	E	+	1	0	XPO7	21900659	1.000000	0.71417	0.917000	0.36280	0.994000	0.84299	9.659000	0.98597	2.732000	0.93576	0.655000	0.94253	GAG		PASS	0.493	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		86	83	86	83	---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37963921	37963921	+	Missense_Mutation	SNP	G	G	A	rs369991556		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:37963921G>A	ENST00000343823.6	+	2	523	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	ASH2L_ENST00000545394.1_De_novo_Start_InFrame|ASH2L_ENST00000521652.1_De_novo_Start_OutOfFrame|ASH2L_ENST00000428278.2_De_novo_Start_OutOfFrame|ASH2L_ENST00000250635.7_De_novo_Start_OutOfFrame	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	72	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.G72S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CGATGTAAGCGGTGGCTTGGA	0.353																																						uc003xkt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(214-216)GGT>AGT		ash2-like isoform a		G	,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	169.0	171.0	170.0		,214	5.6	1.0	8		170	0,8600		0,0,4300	no	utr-5,missense	ASH2L	NM_001105214.1,NM_004674.3	,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,72/629	37963921	1,13005	2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37963921G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.214G>A	8.37:g.37963921G>A	ENSP00000340896:p.Gly72Ser					ASH2L_uc011lbk.1_5'UTR|ASH2L_uc003xku.3_5'UTR|ASH2L_uc010lwa.2_5'UTR	p.G72S	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			2	272	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	72					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.214G>A	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819411	0.71028	2.27E-4	0.0	ENSG00000129691	ENST00000343823	T	0.16597	2.33	5.62	5.62	0.85841	.	0.324526	0.34460	N	0.003955	T	0.13798	0.0334	L	0.36672	1.1	0.80722	D	1	B	0.31837	0.342	B	0.17433	0.018	T	0.06991	-1.0796	10	0.24483	T	0.36	.	16.5793	0.84710	0.0:0.0:1.0:0.0	.	72	Q9UBL3	ASH2L_HUMAN	S	72	ENSP00000340896:G72S	ENSP00000340896:G72S	G	+	1	0	ASH2L	38083078	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.718000	0.47236	2.643000	0.89663	0.655000	0.94253	GGT		PASS	0.353	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		3	86	3	86	---	---	---	---
PLAT	5327	broad.mit.edu	37	8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652																																						uc003xos.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(487-489)GGG>AGG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						45.0	44.0	44.0					8																	42044968		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42044968C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.487G>A	8.37:g.42044968C>T	ENSP00000220809:p.Gly163Arg					PLAT_uc010lxf.1_Missense_Mutation_p.G80R|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.G117R|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	p.G163R	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	696	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	163			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.487G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942903	0.73672	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.202530	0.50627	D	0.000111	T	0.74489	0.3723	L	0.56199	1.76	0.29597	N	0.848019	D;D;D	0.64830	0.994;0.98;0.985	P;P;P	0.61132	0.833;0.559;0.884	T	0.69113	-0.5231	10	0.40728	T	0.16	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	163;117;163	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	R	163;163;163;117;163	ENSP00000270189:G163R;ENSP00000392045:G163R;ENSP00000220809:G163R;ENSP00000270188:G117R;ENSP00000428797:G163R	ENSP00000220809:G163R	G	-	1	0	PLAT	42164125	0.686000	0.27661	0.017000	0.16124	0.241000	0.25554	5.412000	0.66392	2.824000	0.97209	0.655000	0.94253	GGG		PASS	0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		4	28	4	28	---	---	---	---
PENK	5179	broad.mit.edu	37	8	57354094	57354094	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:57354094C>T	ENST00000314922.3	-	2	617	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	PENK_ENST00000451791.2_Missense_Mutation_p.E181K|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	181					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.E181K(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGCTCACTTCTTCCTCATTA	0.522																																						uc003xsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(541-543)GAA>AAA		proenkephalin							136.0	140.0	138.0					8																	57354094		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354094C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.541G>A	8.37:g.57354094C>T	ENSP00000324248:p.Glu181Lys					PENK_uc003xta.3_Missense_Mutation_p.E181K	p.E181K	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	622	-		all_lung(136;0.229)	181					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.541G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593512	0.66219	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.17691	2.26;2.26	5.81	4.92	0.64577	.	0.472244	0.22308	N	0.061779	T	0.19967	0.0480	L	0.55990	1.75	0.80722	D	1	P	0.42078	0.77	B	0.38803	0.282	T	0.01630	-1.1308	10	0.41790	T	0.15	-3.0444	15.9707	0.80013	0.0:0.8651:0.1349:0.0	.	181	P01210	PENK_HUMAN	K	181	ENSP00000324248:E181K;ENSP00000400894:E181K	ENSP00000324248:E181K	E	-	1	0	PENK	57516648	0.997000	0.39634	0.064000	0.19789	0.904000	0.53231	7.035000	0.76517	1.429000	0.47314	0.655000	0.94253	GAA		PASS	0.522	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			93	102	93	102	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547539	67547539	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:67547539C>G	ENST00000310421.4	-	3	3124	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	956					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.E956Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGTCTATCTTCAGAAGCATTA	0.403																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2866-2868)GAA>CAA		valosin containing protein (p97)/p47 complex							82.0	79.0	80.0					8																	67547539		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547539C>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2866G>C	8.37:g.67547539C>G	ENSP00000309031:p.Glu956Gln						p.E956Q	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3125	-		Lung NSC(129;0.142)|all_lung(136;0.227)	956					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2866G>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105188	0.56291	.	.	ENSG00000175073	ENST00000310421	T	0.35605	1.3	6.08	6.08	0.98989	.	0.046390	0.85682	D	0.000000	T	0.39809	0.1092	N	0.24115	0.695	0.80722	D	1	P	0.51057	0.941	P	0.49597	0.616	T	0.19582	-1.0301	10	0.72032	D	0.01	-17.0306	20.6721	0.99693	0.0:1.0:0.0:0.0	.	956	Q96JH7	VCIP1_HUMAN	Q	956	ENSP00000309031:E956Q	ENSP00000309031:E956Q	E	-	1	0	VCPIP1	67710093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GAA		PASS	0.403	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			52	44	52	44	---	---	---	---
RPL7	6129	broad.mit.edu	37	8	74203803	74203803	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:74203803C>G	ENST00000352983.2	-	5	807	c.522G>C	c.(520-522)ttG>ttC	p.L174F	RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.L134F|RPL7_ENST00000396467.1_Missense_Mutation_p.L134F|RPL7_ENST00000396465.1_Missense_Mutation_p.L134F			P18124	RL7_HUMAN	ribosomal protein L7	174					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L174F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ATCGAGCAATCAAAGCGTTAT	0.393																																						uc003xzg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)TTG>TTC		ribosomal protein L7							74.0	68.0	70.0					8																	74203803		2202	4300	6502	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74203803C>G	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.522G>C	8.37:g.74203803C>G	ENSP00000339795:p.Leu174Phe					RPL7_uc003xzh.1_Missense_Mutation_p.L134F	p.L174F	NM_000971	NP_000962	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		5	544	-	Breast(64;0.0954)		174					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.522G>C	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388782	0.61956	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.47	3.52	0.40303	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.64402	U	0.000009	T	0.78039	0.4221	M	0.88181	2.935	0.58432	D	0.999992	D	0.65815	0.995	P	0.61328	0.887	T	0.81908	-0.0717	9	0.87932	D	0	.	11.3471	0.49567	0.1283:0.6579:0.2137:0.0	.	174	P18124	RL7_HUMAN	F	134;174;134;134	.	ENSP00000339795:L174F	L	-	3	2	RPL7	74366357	0.997000	0.39634	0.996000	0.52242	0.641000	0.38312	0.314000	0.19432	2.543000	0.85770	0.655000	0.94253	TTG		PASS	0.393	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		31	34	31	34	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767532	77767532	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:77767532G>T	ENST00000521891.2	+	10	8823	c.8375G>T	c.(8374-8376)gGg>gTg	p.G2792V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2747V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2747V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2766V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2747					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G2776V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTGAGGCTGGGTATGATCAA	0.443										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8239-8241)GGG>GTG		zinc finger homeodomain 4							35.0	34.0	34.0					8																	77767532		1894	4138	6032	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767532G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8375G>T	8.37:g.77767532G>T	ENSP00000430497:p.Gly2792Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G2792V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2747V	p.G2747V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8627	+			2747					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8240G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345158	0.24426	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.8;0.77;0.77	4.82	4.82	0.62117	.	0.163737	0.28635	U	0.014644	T	0.51075	0.1653	L	0.29908	0.895	0.53688	D	0.999974	P;P;P	0.51057	0.902;0.941;0.941	P;P;P	0.56042	0.621;0.79;0.79	T	0.49978	-0.8881	10	0.46703	T	0.11	.	15.286	0.73828	0.0:0.14:0.86:0.0	.	2747;2747;2792	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2792;2776;2747;2747;2766	ENSP00000430497:G2792V;ENSP00000399605:G2747V;ENSP00000050961:G2747V;ENSP00000430848:G2766V	ENSP00000050961:G2747V	G	+	2	0	ZFHX4	77930087	1.000000	0.71417	0.995000	0.50966	0.519000	0.34347	4.658000	0.61497	2.513000	0.84729	0.555000	0.69702	GGG		PASS	0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	23	18	23	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87076589	87076589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:87076589C>A	ENST00000276616.2	-	2	531	c.457G>T	c.(457-459)Gga>Tga	p.G153*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G153*(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAAAGGATCCCTGAGCAATG	0.493																																						uc011lfy.1																			1	Substitution - Nonsense(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(457-459)GGA>TGA		protein serine kinase H2							70.0	74.0	73.0					8																	87076589		2203	4300	6503	SO:0001587	stop_gained	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076589C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.457G>T	8.37:g.87076589C>A	ENSP00000276616:p.Gly153*						p.G153*	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	457	-			153			Protein kinase.		A0AV22	Nonsense_Mutation	SNP	ENST00000276616.2	37	c.457G>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087290	0.76642	.	.	ENSG00000147613	ENST00000276616	.	.	.	5.69	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.5903	0.33684	0.0:0.7186:0.0:0.2814	.	.	.	.	X	153	.	ENSP00000276616:G153X	G	-	1	0	PSKH2	87145705	1.000000	0.71417	0.038000	0.18304	0.690000	0.40134	3.580000	0.53907	0.267000	0.21916	0.655000	0.94253	GGA		PASS	0.493	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		4	68	4	68	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95850755	95850755	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:95850755G>A	ENST00000523731.1	+	8	1059	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	INTS8_ENST00000447247.1_Missense_Mutation_p.C309Y	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	309					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.C309Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TGTCAAGCATGTGATGTTCTT	0.378																																						uc003yhb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)TGT>TAT		integrator complex subunit 8							256.0	217.0	230.0					8																	95850755		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95850755G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.926G>A	8.37:g.95850755G>A	ENSP00000430338:p.Cys309Tyr					INTS8_uc003yha.1_Missense_Mutation_p.C309Y|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.C136Y	p.C309Y	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			8	1052	+	Breast(36;1.05e-06)		309					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.926G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080955|4.080955	0.76528|0.76528	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.52|5.52	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73575|0.73575	0.3604|0.3604	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.994|.	D;P|.	0.87578|.	0.998;0.878|.	T|T	0.73572|0.73572	-0.3940|-0.3940	9|5	0.87932|.	D|.	0|.	1.0632|1.0632	15.7623|15.7623	0.78096|0.78096	0.0:0.0:0.8632:0.1368|0.0:0.0:0.8632:0.1368	.|.	309;309|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	Y|M	309|131	.|.	ENSP00000343274:C309Y|.	C|V	+|+	2|1	0|0	INTS8|INTS8	95919931|95919931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.394000|6.394000	0.73223|0.73223	2.580000|2.580000	0.87095|0.87095	0.491000|0.491000	0.48974|0.48974	TGT|GTG		PASS	0.378	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		8	179	8	179	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139207519	139207519	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr8:139207519C>A	ENST00000395297.1	-	9	1025	c.855G>T	c.(853-855)caG>caT	p.Q285H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	285								p.Q285H(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGAGCACAGCTGAGAAAGTG	0.418										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(853-855)CAG>CAT		hypothetical protein LOC51059							86.0	81.0	83.0					8																	139207519		1849	4091	5940	SO:0001583	missense	51059							g.chr8:139207519C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.855G>T	8.37:g.139207519C>A	ENSP00000378710:p.Gln285His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Q186H|FAM135B_uc003yuz.2_RNA	p.Q285H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		9	1026	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		285					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.855G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998644	0.54147	.	.	ENSG00000147724	ENST00000395297	T	0.79247	-1.25	4.44	2.64	0.31445	.	0.355997	0.27076	N	0.021060	T	0.78868	0.4351	M	0.66939	2.045	0.38268	D	0.942087	P	0.48911	0.917	P	0.51487	0.671	T	0.79680	-0.1702	10	0.72032	D	0.01	-14.2803	6.9482	0.24530	0.0:0.7951:0.0:0.2049	.	285	Q49AJ0	F135B_HUMAN	H	285	ENSP00000378710:Q285H	ENSP00000276737:Q285H	Q	-	3	2	FAM135B	139276701	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	-0.110000	0.10824	0.808000	0.34231	0.557000	0.71058	CAG		PASS	0.418	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		38	56	38	56	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13110740	13110740	+	Splice_Site	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:13110740C>A	ENST00000319217.7	-	44	5972		c.e44-1		MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000541093.1_Splice_Site|MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TATCCCCAACCTGCAAGGGAG	0.473																																						uc010mhy.2																			2	Unknown(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.e42-1		multiple PDZ domain protein							61.0	60.0	61.0					9																	13110740		1970	4164	6134	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13110740C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5725-1G>T	9.37:g.13110740C>A						MPDZ_uc003zkx.3_Splice_Site_p.V104_splice|MPDZ_uc003zky.3_Splice_Site_p.V443_splice|MPDZ_uc010mib.2_Splice_Site_p.V614_splice|MPDZ_uc010mhx.2_Splice_Site_p.V731_splice|MPDZ_uc011lmm.1_Splice_Site_p.V768_splice|MPDZ_uc003zkz.3_Splice_Site_p.V602_splice|MPDZ_uc010mhz.2_Splice_Site_p.V1876_splice|MPDZ_uc011lmn.1_Splice_Site_p.V1847_splice|MPDZ_uc003zlb.3_Splice_Site_p.V1880_splice	p.V1880_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	42	5689	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Splice_Site	SNP	ENST00000319217.7	37	c.5638_splice		.	.	.	.	.	.	.	.	.	.	C	23.5	4.419831	0.83559	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8022	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPDZ	13100740	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.978000	0.70501	2.764000	0.94973	0.650000	0.86243	.		PASS	0.473	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Intron	7	26	7	26	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15777610	15777610	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:15777610G>T	ENST00000380701.3	+	19	3012	c.2684G>T	c.(2683-2685)aGa>aTa	p.R895I	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Missense_Mutation_p.R895I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	895								p.R162I(1)|p.R895I(1)									CCAAATTCCAGAATTTGTGGA	0.333																																						uc003zmd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2683-2685)AGA>ATA		hypothetical protein LOC203238							45.0	49.0	47.0					9																	15777610		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15777610G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2684G>T	9.37:g.15777610G>T	ENSP00000370077:p.Arg895Ile					C9orf93_uc003zme.2_Missense_Mutation_p.R810I|C9orf93_uc011lmu.1_Missense_Mutation_p.R903I|C9orf93_uc003zmf.1_Missense_Mutation_p.R203I	p.R895I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	19	2999	+			895					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.2684G>T	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.253913|2.253913	0.39896|0.39896	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.14022	.|2.54;2.54	5.87|5.87	3.87|3.87	0.44632|0.44632	.|.	.|0.401338	.|0.28706	.|N	.|0.014411	.|T	.|0.07683	.|0.0193	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25955	.|0.138;0.085;0.138	.|B;B;B	.|0.18561	.|0.022;0.006;0.013	.|T	.|0.29397	.|-1.0013	.|10	.|0.20519	.|T	.|0.43	-15.0863|-15.0863	11.0291|11.0291	0.47761|0.47761	0.0:0.1184:0.6592:0.2224|0.0:0.1184:0.6592:0.2224	.|.	.|903;162;895	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	X|I	135|895;162;895	.|ENSP00000297641:R895I;ENSP00000370077:R895I	.|ENSP00000297641:R895I	E|R	+|+	1|2	0|0	C9orf93|C9orf93	15767610|15767610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.936000|1.936000	0.40183|0.40183	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.333	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		4	80	4	80	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15777713	15777713	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:15777713G>C	ENST00000380701.3	+	19	3115	c.2787G>C	c.(2785-2787)agG>agC	p.R929S	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Missense_Mutation_p.R929S	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	929								p.R929S(1)|p.R196S(1)									ACAGTAGCAGGAGTATTACAT	0.413																																						uc003zmd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2785-2787)AGG>AGC		hypothetical protein LOC203238							81.0	84.0	83.0					9																	15777713		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15777713G>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2787G>C	9.37:g.15777713G>C	ENSP00000370077:p.Arg929Ser					C9orf93_uc003zme.2_Missense_Mutation_p.R844S|C9orf93_uc011lmu.1_Missense_Mutation_p.R937S|C9orf93_uc003zmf.1_Missense_Mutation_p.R237S	p.R929S	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	19	3102	+			929					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.2787G>C	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.53|10.53	1.374743|1.374743	0.24857|0.24857	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.14391	.|2.51;2.52	5.87|5.87	1.49|1.49	0.22878|0.22878	.|.	.|0.209862	.|0.48286	.|D	.|0.000189	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.003;0.001;0.003	.|B;B;B	.|0.13407	.|0.009;0.004;0.009	T|T	0.34004|0.34004	-0.9846|-0.9846	5|10	.|0.26408	.|T	.|0.33	-3.0898|-3.0898	6.3945|6.3945	0.21605|0.21605	0.3455:0.0:0.5343:0.1202|0.3455:0.0:0.5343:0.1202	.|.	.|937;196;929	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	A|S	169|929;196;929	.|ENSP00000297641:R929S;ENSP00000370077:R929S	.|ENSP00000297641:R929S	G|R	+|+	2|3	0|2	C9orf93|C9orf93	15767713|15767713	0.990000|0.990000	0.36364|0.36364	0.694000|0.694000	0.30210|0.30210	0.986000|0.986000	0.74619|0.74619	0.339000|0.339000	0.19875|0.19875	0.391000|0.391000	0.25143|0.25143	0.650000|0.650000	0.86243|0.86243	GGA|AGG		PASS	0.413	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		11	101	11	101	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15777729	15777729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:15777729G>T	ENST00000380701.3	+	19	3131	c.2803G>T	c.(2803-2805)Gaa>Taa	p.E935*	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E935*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	935								p.E202*(1)|p.E935*(1)									TACATATGTAGAAAAAGATTC	0.428																																						uc003zmd.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2803-2805)GAA>TAA		hypothetical protein LOC203238							79.0	81.0	80.0					9																	15777729		2203	4300	6503	SO:0001587	stop_gained	203238							g.chr9:15777729G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2803G>T	9.37:g.15777729G>T	ENSP00000370077:p.Glu935*					C9orf93_uc003zme.2_Nonsense_Mutation_p.E850*|C9orf93_uc011lmu.1_Nonsense_Mutation_p.E943*|C9orf93_uc003zmf.1_Nonsense_Mutation_p.E243*	p.E935*	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	19	3118	+			935					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	c.2803G>T	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.747222|12.747222	0.99693|0.99693	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.437884|.	0.26935|.	N|.	0.021758|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.36615|.	T|.	0.2|.	-6.1851|-6.1851	20.2245|20.2245	0.98337|0.98337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	935;202;935|174	.|.	ENSP00000297641:E935X|.	E|X	+|+	1|3	0|2	C9orf93|C9orf93	15767729|15767729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.015000|7.015000	0.76387|0.76387	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	GAA|TAG		PASS	0.428	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		12	105	12	105	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16419556	16419556	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:16419556C>A	ENST00000380672.4	-	7	2788	c.2731G>T	c.(2731-2733)Gac>Tac	p.D911Y	BNC2_ENST00000545497.1_Missense_Mutation_p.D816Y|BNC2_ENST00000380667.2_Missense_Mutation_p.D844Y	NM_017637.5	NP_060107.3			basonuclin 2									p.D911Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCGCGGAGGTCCTTGCTAAGG	0.532																																						uc003zml.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2731-2733)GAC>TAC		basonuclin 2							87.0	93.0	91.0					9																	16419556		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419556C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2731G>T	9.37:g.16419556C>A	ENSP00000370047:p.Asp911Tyr					BNC2_uc011lmw.1_Missense_Mutation_p.D816Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.D698Y	p.D911Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2871	-			911						Missense_Mutation	SNP	ENST00000380672.4	37	c.2731G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842656	0.51057	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.37058	1.22;1.25;1.24	5.5	5.5	0.81552	.	0.165374	0.52532	D	0.000065	T	0.45196	0.1330	L	0.34521	1.04	0.80722	D	1	D;D;D	0.61697	0.983;0.971;0.99	P;P;P	0.55824	0.785;0.615;0.737	T	0.40831	-0.9542	10	0.72032	D	0.01	-12.6261	17.5737	0.87942	0.0:1.0:0.0:0.0	.	816;911;676	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	Y	911;844;816	ENSP00000370047:D911Y;ENSP00000370042:D844Y;ENSP00000444640:D816Y	ENSP00000370042:D844Y	D	-	1	0	BNC2	16409556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.714000	0.68422	2.586000	0.87340	0.591000	0.81541	GAC		PASS	0.532	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		20	146	20	146	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633549	32633549	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:32633549C>G	ENST00000242310.4	-	1	2118	c.2029G>C	c.(2029-2031)Ggt>Cgt	p.G677R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	677					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.G677R(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCCACCACCTGAGGCTTGC	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2029-2031)GGT>CGT		TBP-associated factor RNA polymerase 1-like							169.0	154.0	159.0					9																	32633549		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633549C>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2029G>C	9.37:g.32633549C>G	ENSP00000418379:p.Gly677Arg					uc003zrh.1_RNA	p.G677R	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2119	-			677					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2029G>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641770	0.67244	.	.	ENSG00000122728	ENST00000242310	T	0.13196	2.61	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.88570	2.965	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.21245	-1.0251	10	0.87932	D	0	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	677	Q8IZX4	TAF1L_HUMAN	R	677	ENSP00000418379:G677R	ENSP00000418379:G677R	G	-	1	0	TAF1L	32623549	0.967000	0.33354	0.992000	0.48379	0.694000	0.40290	3.410000	0.52664	0.632000	0.30432	0.195000	0.17529	GGT		PASS	0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			54	53	54	53	---	---	---	---
IL11RA	3590	broad.mit.edu	37	9	34659843	34659843	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:34659843G>C	ENST00000555003.1	+	9	2254	c.898G>C	c.(898-900)Gat>Cat	p.D300H	IL11RA_ENST00000318041.9_Missense_Mutation_p.D300H|IL11RA_ENST00000441545.2_Missense_Mutation_p.D300H|IL11RA_ENST00000378817.4_Missense_Mutation_p.D300H|CCL27_ENST00000557161.1_5'Flank|RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000602473.1_Missense_Mutation_p.D300H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	300	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.D300H(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGACTTTCTAGATGCTGGCAC	0.612																																						uc003zvi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(898-900)GAT>CAT		interleukin 11 receptor, alpha isoform 1	Oprelvekin(DB00038)						64.0	67.0	66.0					9																	34659843		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34659843G>C	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.898G>C	9.37:g.34659843G>C	ENSP00000450565:p.Asp300His					IL11RA_uc011loq.1_Missense_Mutation_p.D300H|IL11RA_uc003zvj.2_Missense_Mutation_p.D300H|IL11RA_uc003zvk.2_Missense_Mutation_p.D300H|IL11RA_uc010mke.2_Missense_Mutation_p.D182H|IL11RA_uc003zvl.2_RNA	p.D300H	NM_004512	NP_004503	Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	9	2254	+	all_epithelial(49;0.102)		300			Extracellular (Potential).|Fibronectin type-III 2.		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.898G>C	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233149	0.79688	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.39997	1.22;1.22;1.05;1.22	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.156950	0.56097	D	0.000040	T	0.66137	0.2759	M	0.73962	2.25	0.51233	D	0.999919	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68853	-0.5299	10	0.87932	D	0	-13.8658	17.151	0.86778	0.0:0.0:1.0:0.0	.	300;300	Q5VZ79;Q14626	.;I11RA_HUMAN	H	300	ENSP00000450565:D300H;ENSP00000394391:D300H;ENSP00000368094:D300H;ENSP00000326500:D300H	ENSP00000326500:D300H	D	+	1	0	IL11RA	34649843	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.204000	0.72143	2.651000	0.90000	0.563000	0.77884	GAT		PASS	0.612	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		6	55	6	55	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111945036	111945036	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:111945036A>G	ENST00000374566.3	-	24	2977	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	820					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.D820D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGAAAGTATCAGGAAACG	0.418																																						uc004bdz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2458-2460)GAT>GAC		erythrocyte membrane protein band 4.1 like 4B							162.0	155.0	158.0					9																	111945036		1871	4095	5966	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111945036A>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2460T>C	9.37:g.111945036A>G							p.D820D	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			24	2755	-			820					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.2460T>C	CCDS43859.1																																																																																				PASS	0.418	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		49	78	49	78	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117099585	117099585	+	Splice_Site	SNP	A	A	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:117099585A>C	ENST00000307564.4	-	22	4230	c.4069T>G	c.(4069-4071)Tac>Gac	p.Y1357D	AKNA_ENST00000374075.5_Splice_Site_p.Y1276D|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Splice_Site_p.Y1357D|AKNA_ENST00000223791.3_Splice_Site_p.Y817D|AKNA_ENST00000374079.4_Splice_Site_p.Y302D	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1357					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Y1357D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCGCATAGTACCTGAGGAGA	0.637																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4069-4071)TAC>GAC		AT-hook transcription factor							36.0	40.0	39.0					9																	117099585		2203	4299	6502	SO:0001630	splice_region_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099585A>C	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4068-1T>G	9.37:g.117099585A>C						AKNA_uc004bin.3_Missense_Mutation_p.Y604D|AKNA_uc004bio.3_Missense_Mutation_p.Y817D|AKNA_uc004bip.3_Missense_Mutation_p.Y1276D|AKNA_uc004bir.3_Missense_Mutation_p.Y1357D|AKNA_uc004bis.3_Missense_Mutation_p.Y1357D|AKNA_uc010mve.2_Missense_Mutation_p.Y1238D	p.Y1357D	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			21	4204	-			1357					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4069T>G	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.60|14.60	2.583757|2.583757	0.46006|0.46006	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.34072	.|1.62;1.47;1.62;1.38;1.6	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|.	.|.	.|.	.|.	T|T	0.47248|0.47248	0.1435|0.1435	L|L	0.32530|0.32530	0.975|0.975	0.39353|0.39353	D|D	0.96578|0.96578	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.76071	.|0.97;0.987	T|T	0.52011|0.52011	-0.8632|-0.8632	6|9	0.87932|0.87932	D|D	0|0	.|.	11.3467|11.3467	0.49565|0.49565	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1357;1276	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	W|D	367|1357;302;1357;817;1276	.|ENSP00000303769:Y1357D;ENSP00000363192:Y302D;ENSP00000363201:Y1357D;ENSP00000223791:Y817D;ENSP00000363188:Y1276D	ENSP00000314538:C367W|ENSP00000223791:Y817D	C|Y	-|-	3|1	2|0	AKNA|AKNA	116139406|116139406	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.648000|0.648000	0.38561|0.38561	5.375000|5.375000	0.66173|0.66173	1.923000|1.923000	0.55706|0.55706	0.460000|0.460000	0.39030|0.39030	TGT|TAC		PASS	0.637	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	Missense_Mutation	3	36	3	36	---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670130	131670130	+	Silent	SNP	G	G	T	rs376295105		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr9:131670130G>T	ENST00000259324.5	+	3	1210	c.687G>T	c.(685-687)acG>acT	p.T229T	LRRC8A_ENST00000372600.4_Silent_p.T229T|LRRC8A_ENST00000372599.3_Silent_p.T229T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	229					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T229T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCTCAGAGACGGGCGTGCTGG	0.607																																						uc004bwl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)ACG>ACT		leucine rich repeat containing 8 family, member							90.0	86.0	88.0					9																	131670130		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670130G>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.687G>T	9.37:g.131670130G>T						LRRC8A_uc010myp.2_Silent_p.T229T|LRRC8A_uc010myq.2_Silent_p.T229T	p.T229T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	941	+			229					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.687G>T	CCDS35155.1																																																																																				PASS	0.607	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		11	17	11	17	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	871190	871190	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:871190T>C	ENST00000316157.3	-	12	1339	c.1299A>G	c.(1297-1299)gaA>gaG	p.E433E		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	433					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E433E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGAAGGACTTTCTAATAACC	0.403																																						uc001ifs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1297-1299)GAA>GAG		La ribonucleoprotein domain family, member 4B							126.0	134.0	131.0					10																	871190		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:871190T>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1299A>G	10.37:g.871190T>C							p.E433E	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			12	1340	-			433					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.1299A>G	CCDS31131.1																																																																																				PASS	0.403	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		37	99	37	99	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16979726	16979726	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:16979726T>C	ENST00000377833.4	-	39	5856	c.5791A>G	c.(5791-5793)Act>Gct	p.T1931A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1931	CUB 13. {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.T1931A(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)	AAAGATTCAGTCTGGGTACCA	0.413																																						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.(5791-5793)ACT>GCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						66.0	72.0	70.0					10																	16979726		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.chr10:16979726T>C	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.5791A>G	10.37:g.16979726T>C	ENSP00000367064:p.Thr1931Ala						p.T1931A	NM_001081	NP_001072	O60494	CUBN_HUMAN			39	5843	-			1931			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5791A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	7.430	0.638494	0.14386	.	.	ENSG00000107611	ENST00000377833	T	0.16743	2.32	5.14	-1.85	0.07784	CUB (5);	0.389995	0.18472	N	0.140199	T	0.06781	0.0173	N	0.14661	0.345	0.09310	N	1	B	0.27951	0.195	B	0.27500	0.08	T	0.29243	-1.0018	10	0.25751	T	0.34	.	3.2944	0.06961	0.1015:0.1413:0.4028:0.3543	.	1931	O60494	CUBN_HUMAN	A	1931	ENSP00000367064:T1931A	ENSP00000367064:T1931A	T	-	1	0	CUBN	17019732	0.047000	0.20315	0.003000	0.11579	0.838000	0.47535	1.203000	0.32284	-0.249000	0.09569	0.482000	0.46254	ACT		PASS	0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	55	9	55	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17087013	17087013	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:17087013T>C	ENST00000377833.4	-	25	3730	c.3665A>G	c.(3664-3666)tAc>tGc	p.Y1222C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1222	CUB 7. {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.Y1222C(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)	TACAGCCAGGTAATCTAAAGT	0.423																																						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.(3664-3666)TAC>TGC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						170.0	161.0	164.0					10																	17087013		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.chr10:17087013T>C	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.3665A>G	10.37:g.17087013T>C	ENSP00000367064:p.Tyr1222Cys						p.Y1222C	NM_001081	NP_001072	O60494	CUBN_HUMAN			25	3717	-			1222			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3665A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848204	0.71603	.	.	ENSG00000107611	ENST00000377833	T	0.39406	1.08	5.6	4.43	0.53597	CUB (5);	0.200965	0.24970	N	0.034154	T	0.75421	0.3847	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.83507	0.0078	10	0.87932	D	0	.	11.7284	0.51722	0.1319:0.0:0.0:0.8681	.	1222	O60494	CUBN_HUMAN	C	1222	ENSP00000367064:Y1222C	ENSP00000367064:Y1222C	Y	-	2	0	CUBN	17127019	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	5.563000	0.67352	2.143000	0.66587	0.460000	0.39030	TAC		PASS	0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	68	20	68	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21169795	21169795	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:21169795G>A	ENST00000377122.4	-	5	804	c.408C>T	c.(406-408)ttC>ttT	p.F136F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.F136F	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	136				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). {ECO:0000305}.	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.F136F(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						CATAATCTGAGAATCCTTTGG	0.403																																						uc001iqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(406-408)TTC>TTT		nebulette sarcomeric isoform							141.0	141.0	141.0					10																	21169795		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21169795G>A	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.408C>T	10.37:g.21169795G>A						NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.F136F	NM_006393	NP_006384	O76041	NEBL_HUMAN			5	805	-			136	KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858).		Nebulin 3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.408C>T	CCDS7134.1																																																																																				PASS	0.403	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		13	68	13	68	---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23319669	23319669	+	Silent	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:23319669G>T	ENST00000298032.5	+	17	2274	c.2190G>T	c.(2188-2190)gtG>gtT	p.V730V	ARMC3_ENST00000376528.4_Silent_p.V467V|ARMC3_ENST00000409983.3_Silent_p.V723V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	730						extracellular vesicular exosome (GO:0070062)		p.V730V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATGAGGTGACCAAATCAA	0.363																																						uc001irm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2188-2190)GTG>GTT		armadillo repeat containing 3							161.0	145.0	150.0					10																	23319669		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23319669G>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2190G>T	10.37:g.23319669G>T						ARMC3_uc010qcv.1_Silent_p.V723V|ARMC3_uc010qcw.1_Silent_p.V467V	p.V730V	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			17	2273	+			730					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.2190G>T	CCDS7142.1																																																																																				PASS	0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		20	65	20	65	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	47942065	47942065	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:47942065G>T	ENST00000358474.5	+	24	2528	c.2528G>T	c.(2527-2529)tGg>tTg	p.W843L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		843					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.W843L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AAAGGCATATGGAAGCCAGAA	0.378																																						uc009xni.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2527-2529)TGG>TTG		hypothetical protein LOC55747							36.0	43.0	41.0					10																	47942065		618	2553	3171	SO:0001583	missense	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47942065G>T																												ENST00000358474.5:c.2528G>T	10.37:g.47942065G>T	ENSP00000351259:p.Trp843Leu					FAM21B_uc001jep.3_Missense_Mutation_p.W738L|FAM21B_uc001jeq.3_5'Flank	p.W843L	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN			24	2528	+			843						Missense_Mutation	SNP	ENST00000358474.5	37	c.2528G>T	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.347842	0.00219	.	.	ENSG00000152726	ENST00000358474;ENST00000535219;ENST00000543972;ENST00000355876;ENST00000430074	.	.	.	2.91	1.97	0.26223	.	0.378995	0.24991	N	0.033999	T	0.26048	0.0635	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.12630	0.006;0.004	B;B	0.13407	0.009;0.004	T	0.22138	-1.0225	9	0.10902	T	0.67	-0.663	6.8902	0.24224	0.0:0.0:0.7245:0.2755	.	843;931	Q5SNT6;B7ZME8	FA21B_HUMAN;.	L	843;680;121;834;60	.	ENSP00000348138:W834L	W	+	2	0	FAM21B	47462071	0.340000	0.24792	0.036000	0.18154	0.715000	0.41141	0.420000	0.21263	0.411000	0.25702	0.377000	0.23210	TGG		PASS	0.378	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			12	40	12	40	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720808	89720808	+	Nonsense_Mutation	SNP	T	T	A	rs398123330		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:89720808T>A	ENST00000371953.3	+	8	2316	c.959T>A	c.(958-960)tTa>tAa	p.L320*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	320	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.T319fs*24(4)|p.L320*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTACTTACTTTAACAAAAAAT	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		60	Whole gene deletion(37)|Deletion - Frameshift(14)|Deletion - In frame(4)|Substitution - Nonsense(3)|Unknown(2)	p.T319fs*24(4)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L320*(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)	prostate(16)|central_nervous_system(15)|skin(7)|lung(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|large_intestine(1)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM033671|CM992427	PTEN	M		c.(958-960)TTA>TAA		phosphatase and tensin homolog							88.0	89.0	88.0					10																	89720808		2203	4299	6502	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720808T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.959T>A	10.37:g.89720808T>A	ENSP00000361021:p.Leu320*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L320*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1990	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	320			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.959T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.893326	0.99814	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.0909	15.3536	0.74409	0.0:0.0:0.0:1.0	.	.	.	.	X	320	.	.	L	+	2	0	PTEN	89710788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.614000	0.82996	2.034000	0.60081	0.482000	0.46254	TTA		PASS	0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		25	81	25	81	---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96121573	96121573	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:96121573G>A	ENST00000371361.3	-	2	166	c.66C>T	c.(64-66)gtC>gtT	p.V22V	NOC3L_ENST00000371350.1_Silent_p.V22V|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	22					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.V22V(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTTCAAGTTTGACTTTACTAG	0.323																																						uc001kjq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(64-66)GTC>GTT		nucleolar complex associated 3 homolog							157.0	137.0	144.0					10																	96121573		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96121573G>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.66C>T	10.37:g.96121573G>A						NOC3L_uc009xuk.1_5'UTR	p.V22V	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			2	154	-		Colorectal(252;0.0897)	22					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.66C>T	CCDS7433.1																																																																																				PASS	0.323	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		20	58	20	58	---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101448486	101448486	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:101448486G>C	ENST00000370489.4	+	7	866	c.688G>C	c.(688-690)Gga>Cga	p.G230R		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	230						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G230R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTTGTTTTGGGAAGATTCGA	0.383																																						uc001kqa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)GGA>CGA		ectonucleoside triphosphate diphosphohydrolase							330.0	325.0	327.0					10																	101448486		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101448486G>C	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.688G>C	10.37:g.101448486G>C	ENSP00000359520:p.Gly230Arg					ENTPD7_uc009xwl.2_Missense_Mutation_p.G232R	p.G230R	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	7	866	+		Colorectal(252;0.234)	230			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.688G>C	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670860	0.88348	.	.	ENSG00000198018	ENST00000370489	T	0.19669	2.13	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68168	-0.5480	10	0.72032	D	0.01	-15.203	16.3098	0.82864	0.0:0.0:1.0:0.0	.	230	Q9NQZ7	ENTP7_HUMAN	R	230	ENSP00000359520:G230R	ENSP00000359520:G230R	G	+	1	0	ENTPD7	101438476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.789000	0.75110	2.509000	0.84616	0.557000	0.71058	GGA		PASS	0.383	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		87	219	87	219	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108367015	108367015	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:108367015A>G	ENST00000263054.6	-	23	3081	c.3074T>C	c.(3073-3075)cTc>cCc	p.L1025P	SORCS1_ENST00000369698.1_Missense_Mutation_p.L560P|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1025P|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1025					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L1025P(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAAGCCAGGGAGCACCGCCAC	0.567																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3073-3075)CTC>CCC		SORCS receptor 1 isoform a							73.0	70.0	71.0					10																	108367015		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108367015A>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3074T>C	10.37:g.108367015A>G	ENSP00000263054:p.Leu1025Pro					SORCS1_uc001kyl.2_Missense_Mutation_p.L1025P|SORCS1_uc009xxs.2_Missense_Mutation_p.L1025P|SORCS1_uc001kyn.1_Missense_Mutation_p.L1025P|SORCS1_uc001kyo.2_Missense_Mutation_p.L1025P	p.L1025P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3082	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1025			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3074T>C	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.79|16.79	3.221019|3.221019	0.58560|0.58560	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.24723|.	1.84;2.38;2.4|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.074763|.	0.52532|.	D|.	0.000072|.	T|T	0.62024|0.62024	0.2394|0.2394	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.64830|.	0.99;0.994;0.994;0.99;0.994|.	P;D;D;P;D|.	0.70227|.	0.862;0.935;0.968;0.862;0.968|.	T|T	0.58393|0.58393	-0.7644|-0.7644	9|5	.|.	.|.	.|.	-17.343|-17.343	16.0262|16.0262	0.80548|0.80548	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1025;1025;1025;1025;1025|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	P|P	560;1025;1025|40	ENSP00000358712:L560P;ENSP00000263054:L1025P;ENSP00000345964:L1025P|.	.|.	L|S	-|-	2|1	0|0	SORCS1|SORCS1	108357005|108357005	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.589000|0.589000	0.36550|0.36550	7.999000|7.999000	0.88496|0.88496	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CTC|TCC		PASS	0.567	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		13	34	13	34	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112270038	112270038	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr10:112270038T>G	ENST00000369583.3	+	4	1293	c.1009T>G	c.(1009-1011)Tca>Gca	p.S337A	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	337	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S337A(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCAGGCTCTTCACTGATAGG	0.612																																						uc001kzd.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1009-1011)TCA>GCA		dual specificity phosphatase 5							41.0	40.0	41.0					10																	112270038		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112270038T>G	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.1009T>G	10.37:g.112270038T>G	ENSP00000358596:p.Ser337Ala						p.S337A	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	4	1264	+		Breast(234;0.0848)	337			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.1009T>G	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	T	5.190	0.220595	0.09863	.	.	ENSG00000138166	ENST00000369583	T	0.29917	1.55	5.86	-1.09	0.09904	.	0.302747	0.36854	N	0.002376	T	0.12646	0.0307	N	0.16307	0.4	0.09310	N	0.999996	B	0.25048	0.117	B	0.24701	0.055	T	0.12993	-1.0526	10	0.24483	T	0.36	.	1.938	0.03341	0.1229:0.1349:0.2419:0.5003	.	337	Q16690	DUS5_HUMAN	A	337	ENSP00000358596:S337A	ENSP00000358596:S337A	S	+	1	0	DUSP5	112260028	0.958000	0.32768	0.010000	0.14722	0.420000	0.31355	1.236000	0.32683	-0.430000	0.07318	-0.250000	0.11733	TCA		PASS	0.612	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		8	52	8	52	---	---	---	---
CARS	833	broad.mit.edu	37	11	3028114	3028114	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:3028114T>C	ENST00000397111.5	-	18	2140	c.1895A>G	c.(1894-1896)cAc>cGc	p.H632R	CARS_ENST00000397114.3_Missense_Mutation_p.H622R|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Missense_Mutation_p.H715R|CARS_ENST00000278224.9_Missense_Mutation_p.H632R|CARS_ENST00000401769.3_Missense_Mutation_p.H645R			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	632					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.H715R(1)|p.H632R(1)	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)	CCCACCTTCGTGGTCTTCAAA	0.587			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.(1894-1896)CAC>CGC		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						180.0	173.0	175.0					11																	3028114		2202	4298	6500	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.chr11:3028114T>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.1895A>G	11.37:g.3028114T>C	ENSP00000380300:p.His632Arg					CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.H622R|CARS_uc001lxf.2_Missense_Mutation_p.H715R|CARS_uc001lxg.2_Missense_Mutation_p.H632R|CARS_uc010qxo.1_Missense_Mutation_p.H715R|CARS_uc010qxp.1_Missense_Mutation_p.H645R	p.H632R	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	18	1969	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	632					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1895A>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	5.682	0.310468	0.10733	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.176583	0.49916	D	0.000124	T	0.19644	0.0472	N	0.10685	0.025	0.51482	D	0.99992	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001;0.001	T	0.10382	-1.0632	10	0.02654	T	1	-20.3723	12.3687	0.55242	0.0:0.0:0.0:1.0	.	645;715;632;632;715;622	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	R	715;632;632;622;645	ENSP00000369897:H715R;ENSP00000380300:H632R;ENSP00000278224:H632R;ENSP00000380303:H622R;ENSP00000384069:H645R	ENSP00000278224:H632R	H	-	2	0	CARS	2984690	1.000000	0.71417	0.937000	0.37676	0.917000	0.54804	4.051000	0.57412	1.848000	0.53677	0.379000	0.24179	CAC		PASS	0.587	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		8	179	8	179	---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510741	5510741	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:5510741C>G	ENST00000322641.5	+	1	827	c.805C>G	c.(805-807)Cac>Gac	p.H269D	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	269					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.H269D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCTTTGGTCACCACGAAGT	0.512																																						uc010qzg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(805-807)CAC>GAC		olfactory receptor, family 52, subfamily D,							154.0	136.0	143.0					11																	5510741		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510741C>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.805C>G	11.37:g.5510741C>G	ENSP00000326232:p.His269Asp					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.H269D	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	805	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	269			Extracellular (Potential).		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.805C>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432814	0.25813	.	.	ENSG00000181609	ENST00000322641	T	0.36878	1.23	5.44	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.538297	0.17524	N	0.171120	T	0.24736	0.0600	N	0.14661	0.345	0.21553	N	0.999648	B	0.29590	0.25	B	0.34093	0.175	T	0.20240	-1.0281	10	0.48119	T	0.1	.	11.5706	0.50832	0.5279:0.4721:0.0:0.0	.	269	Q9H346	O52D1_HUMAN	D	269	ENSP00000326232:H269D	ENSP00000326232:H269D	H	+	1	0	OR52D1	5467317	0.000000	0.05858	0.818000	0.32626	0.935000	0.57460	0.190000	0.17057	0.789000	0.33779	0.655000	0.94253	CAC		PASS	0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		15	50	15	50	---	---	---	---
OR52N1	79473	broad.mit.edu	37	11	5809149	5809149	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:5809149T>A	ENST00000317078.1	-	1	897	c.898A>T	c.(898-900)Agg>Tgg	p.R300W	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R300W(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)		CGTACCTGCCTGGTTTTCACC	0.398																																						uc010qzo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(898-900)AGG>TGG		olfactory receptor, family 52, subfamily N,							107.0	106.0	106.0					11																	5809149		2121	4092	6213	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809149T>A	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.898A>T	11.37:g.5809149T>A	ENSP00000322823:p.Arg300Trp					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.R300W	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	898	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	300			Cytoplasmic (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.898A>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741902	0.30865	.	.	ENSG00000181001	ENST00000317078	T	0.39997	1.05	4.35	4.35	0.52113	.	0.166876	0.28653	N	0.014582	T	0.40932	0.1137	L	0.50333	1.59	0.22620	N	0.998929	P	0.42556	0.783	P	0.44359	0.447	T	0.40079	-0.9582	10	0.87932	D	0	.	9.1952	0.37224	0.0:0.0:0.1831:0.8169	.	300	Q8NH53	O52N1_HUMAN	W	300	ENSP00000322823:R300W	ENSP00000322823:R300W	R	-	1	2	OR52N1	5765725	0.045000	0.20229	1.000000	0.80357	0.169000	0.22640	2.321000	0.43805	1.941000	0.56285	0.496000	0.49642	AGG		PASS	0.398	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		24	97	24	97	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048454	6048454	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:6048454G>A	ENST00000316650.5	-	1	517	c.481C>T	c.(481-483)Ctt>Ttt	p.L161F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L161F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTAAGAAGCGCATTCCGC	0.498																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(481-483)CTT>TTT		olfactory receptor, family 56, subfamily A,							148.0	129.0	135.0					11																	6048454		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048454G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.481C>T	11.37:g.6048454G>A	ENSP00000321246:p.Leu161Phe						p.L161F	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	481	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	161			Helical; Name=4; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.481C>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086186	0.01873	.	.	ENSG00000180934	ENST00000316650	T	0.00158	8.65	4.27	-4.0	0.04057	GPCR, rhodopsin-like superfamily (1);	0.222293	0.20682	N	0.087622	T	0.00109	0.0003	L	0.38953	1.18	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.33777	-0.9855	10	0.33940	T	0.23	.	9.0319	0.36264	0.5578:0.1034:0.3388:0.0	.	161	Q8NGH5	O56A1_HUMAN	F	161	ENSP00000321246:L161F	ENSP00000321246:L161F	L	-	1	0	OR56A1	6005030	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.869000	0.04232	-1.446000	0.01945	-2.048000	0.00412	CTT		PASS	0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		11	64	11	64	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048757	6048757	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:6048757C>G	ENST00000316650.5	-	1	214	c.178G>C	c.(178-180)Gcc>Ccc	p.A60P		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A60P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGAGAGGCCTCCAGCTGG	0.617																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(178-180)GCC>CCC		olfactory receptor, family 56, subfamily A,							70.0	69.0	69.0					11																	6048757		2201	4290	6491	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048757C>G	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.178G>C	11.37:g.6048757C>G	ENSP00000321246:p.Ala60Pro						p.A60P	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	178	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	60			Cytoplasmic (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.178G>C	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.441186	0.01098	.	.	ENSG00000180934	ENST00000316650	T	0.02446	4.29	4.27	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.408193	0.18030	N	0.153950	T	0.01353	0.0044	N	0.02830	-0.485	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.49273	-0.8957	10	0.22706	T	0.39	.	8.2897	0.31950	0.0:0.733:0.0:0.267	.	60	Q8NGH5	O56A1_HUMAN	P	60	ENSP00000321246:A60P	ENSP00000321246:A60P	A	-	1	0	OR56A1	6005333	0.000000	0.05858	0.021000	0.16686	0.024000	0.10985	-1.296000	0.02762	0.190000	0.20209	0.655000	0.94253	GCC		PASS	0.617	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		10	53	10	53	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6650773	6650773	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:6650773T>A	ENST00000299441.3	-	12	5482	c.5071A>T	c.(5071-5073)Agc>Tgc	p.S1691C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1691	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1691C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCTTTCGCTAGAGACGCCT	0.552																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5071-5073)AGC>TGC		dachsous 1 precursor							81.0	77.0	78.0					11																	6650773		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650773T>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5071A>T	11.37:g.6650773T>A	ENSP00000299441:p.Ser1691Cys						p.S1691C	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	12	5481	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1691			Cadherin 16.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5071A>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292752	0.40594	.	.	ENSG00000166341	ENST00000299441	T	0.62498	0.02	5.15	3.21	0.36854	Cadherin (4);Cadherin-like (1);	0.269990	0.26400	N	0.024581	T	0.51449	0.1675	L	0.49571	1.57	0.26327	N	0.977573	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.52906	T	0.07	.	6.4634	0.21968	0.1959:0.7088:0.0:0.0953	.	1691	Q96JQ0	PCD16_HUMAN	C	1691	ENSP00000299441:S1691C	ENSP00000299441:S1691C	S	-	1	0	DCHS1	6607349	0.998000	0.40836	0.695000	0.30226	0.277000	0.26821	2.004000	0.40854	0.682000	0.31407	-0.468000	0.05107	AGC		PASS	0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	17	3	17	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661603	6661603	+	Silent	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:6661603T>A	ENST00000299441.3	-	2	1653	c.1242A>T	c.(1240-1242)ctA>ctT	p.L414L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L414L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGGGTGCTTAGGGCAAAGT	0.557																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1240-1242)CTA>CTT		dachsous 1 precursor							54.0	49.0	50.0					11																	6661603		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661603T>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1242A>T	11.37:g.6661603T>A							p.L414L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1652	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	414			Cadherin 4.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.1242A>T	CCDS7771.1																																																																																				PASS	0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	10	4	10	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47330152	47330152	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:47330152A>G	ENST00000311027.5	+	25	3935	c.3770A>G	c.(3769-3771)cAc>cGc	p.H1257R	MADD_ENST00000395344.3_Missense_Mutation_p.H1172R|MADD_ENST00000405573.2_Missense_Mutation_p.H67R|MADD_ENST00000342922.4_Missense_Mutation_p.H1219R|MADD_ENST00000406482.1_Missense_Mutation_p.H1176R|MADD_ENST00000402192.2_Missense_Mutation_p.H1218R|MADD_ENST00000402799.1_Missense_Mutation_p.H1176R|MADD_ENST00000395336.3_Missense_Mutation_p.H1257R|MADD_ENST00000407859.3_Missense_Mutation_p.H1196R|MADD_ENST00000349238.3_Missense_Mutation_p.H1239R	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.H1257R(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGTAAAGCCCACAGCTTGAAG	0.507																																						uc001ner.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3769-3771)CAC>CGC		MAP-kinase activating death domain-containing							56.0	56.0	56.0					11																	47330152		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47330152A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3770A>G	11.37:g.47330152A>G	ENSP00000310933:p.His1257Arg					MADD_uc001neq.2_Missense_Mutation_p.H1219R|MADD_uc001nev.1_Missense_Mutation_p.H1176R|MADD_uc001nes.1_Missense_Mutation_p.H1196R|MADD_uc001net.1_Missense_Mutation_p.H1239R|MADD_uc009yln.1_Missense_Mutation_p.H1172R|MADD_uc001neu.1_Missense_Mutation_p.H1176R|MADD_uc001nex.2_Missense_Mutation_p.H1257R|MADD_uc001nez.2_Missense_Mutation_p.H1175R|MADD_uc001new.2_Missense_Mutation_p.H1218R|MADD_uc009ylo.2_Missense_Mutation_p.H171R	p.H1257R	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	25	3961	+			1257						Missense_Mutation	SNP	ENST00000311027.5	37	c.3770A>G	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720335	0.68959	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46819	3.48;3.33;3.33;3.49;3.5;3.34;3.34;3.5;3.48;0.86	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.29908	0.895	0.58432	D	0.999999	P;P;P;P;P;P;P;P;P;P;P	0.43826	0.721;0.536;0.594;0.721;0.716;0.818;0.666;0.58;0.716;0.599;0.58	B;B;B;P;B;B;B;P;P;B;P	0.47786	0.281;0.079;0.164;0.557;0.311;0.311;0.164;0.487;0.487;0.354;0.487	T	0.46091	-0.9216	10	0.51188	T	0.08	-15.9418	15.536	0.76004	1.0:0.0:0.0:0.0	.	67;1172;1172;1257;1176;1176;1176;1239;1196;1257;1219	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	R	1219;1176;1176;1176;1239;1257;1196;1172;1257;1218;67	ENSP00000343902:H1219R;ENSP00000385585:H1176R;ENSP00000384435:H1176R;ENSP00000304505:H1239R;ENSP00000310933:H1257R;ENSP00000384204:H1196R;ENSP00000378753:H1172R;ENSP00000378745:H1257R;ENSP00000384287:H1218R;ENSP00000384483:H67R	ENSP00000310933:H1257R	H	+	2	0	MADD	47286728	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	7.780000	0.85658	2.061000	0.61500	0.460000	0.39030	CAC		PASS	0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			11	30	11	30	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128131	56128131	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:56128131T>A	ENST00000303039.3	+	1	441	c.409T>A	c.(409-411)Tct>Act	p.S137T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S137T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GGTGGTGGTGTCTCGGCGGCT	0.468																																						uc010rjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)TCT>ACT		olfactory receptor, family 8, subfamily J,							129.0	122.0	124.0					11																	56128131		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128131T>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.409T>A	11.37:g.56128131T>A	ENSP00000304060:p.Ser137Thr						p.S137T	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	409	+	Esophageal squamous(21;0.00448)		137			Cytoplasmic (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.409T>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437849	0.25900	.	.	ENSG00000172487	ENST00000303039	T	0.35421	1.31	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.102938	0.44285	D	0.000476	T	0.44912	0.1316	L	0.48986	1.54	0.09310	N	1	P	0.51351	0.944	P	0.59595	0.86	T	0.19160	-1.0314	10	0.30854	T	0.27	.	8.7305	0.34496	0.0:0.0:0.1918:0.8082	.	137	Q8NGP2	OR8J1_HUMAN	T	137	ENSP00000304060:S137T	ENSP00000304060:S137T	S	+	1	0	OR8J1	55884707	0.000000	0.05858	0.800000	0.32199	0.040000	0.13550	1.026000	0.30103	1.828000	0.53243	0.523000	0.50628	TCT		PASS	0.468	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		19	70	19	70	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185408	56185408	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:56185408G>T	ENST00000312253.1	-	1	300	c.301C>A	c.(301-303)Ctg>Atg	p.L101M		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L101M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAACAACCCAGTTGGGTTGCA	0.453																																						uc010rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(301-303)CTG>ATG		olfactory receptor, family 5, subfamily R,							98.0	92.0	94.0					11																	56185408		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185408G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.301C>A	11.37:g.56185408G>T	ENSP00000308595:p.Leu101Met						p.L101M	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	301	-	Esophageal squamous(21;0.00448)		101			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.301C>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.009064	0.35415	.	.	ENSG00000174942	ENST00000312253	T	0.00433	7.43	5.78	0.56	0.17279	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27008	U	0.021387	T	0.00440	0.0014	L	0.41906	1.305	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.55477	-0.8135	10	0.24483	T	0.36	-7.0254	0.2571	0.00213	0.2648:0.2546:0.2455:0.235	.	101	Q8NH85	OR5R1_HUMAN	M	101	ENSP00000308595:L101M	ENSP00000308595:L101M	L	-	1	2	OR5R1	55941984	0.000000	0.05858	0.911000	0.35937	0.447000	0.32167	-0.135000	0.10420	0.774000	0.33427	0.478000	0.44815	CTG		PASS	0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		6	34	6	34	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409733	56409733	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:56409733G>A	ENST00000302981.1	-	1	182	c.183C>T	c.(181-183)ctC>ctT	p.L61L	OR5AP2_ENST00000544374.1_Silent_p.L62L	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L61L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TGGGGGTGTGGAGACAGAGAT	0.433																																						uc001njb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(181-183)CTC>CTT		olfactory receptor, family 5, subfamily AP,							87.0	81.0	83.0					11																	56409733		2201	4296	6497	SO:0001819	synonymous_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409733G>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.183C>T	11.37:g.56409733G>A							p.L61L	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	183	-			61			Helical; Name=2; (Potential).		B2RNM8	Silent	SNP	ENST00000302981.1	37	c.183C>T	CCDS31534.1																																																																																				PASS	0.433	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		6	40	6	40	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275212	58275212	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:58275212C>G	ENST00000360374.2	-	1	366	c.367G>C	c.(367-369)Gcg>Ccg	p.A123P		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A123P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTACATACCGCTGCATGGCGA	0.527																																						uc010rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(367-369)GCG>CCG		olfactory receptor, family 5, subfamily B,							127.0	95.0	106.0					11																	58275212		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275212C>G		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.367G>C	11.37:g.58275212C>G	ENSP00000353537:p.Ala123Pro						p.A123P	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	367	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	123			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.367G>C	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784904	0.49997	.	.	ENSG00000198283	ENST00000360374	T	0.00995	5.46	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002446	T	0.05181	0.0138	H	0.96633	3.855	0.42771	D	0.993838	P	0.51537	0.946	P	0.47786	0.557	T	0.03148	-1.1067	10	0.87932	D	0	-6.2997	12.1013	0.53785	0.0:0.9165:0.0:0.0835	.	123	A6NL26	OR5BL_HUMAN	P	123	ENSP00000353537:A123P	ENSP00000353537:A123P	A	-	1	0	OR5B21	58031788	0.997000	0.39634	0.555000	0.28281	0.062000	0.15995	3.116000	0.50399	1.359000	0.45940	0.655000	0.94253	GCG		PASS	0.527	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		3	27	3	27	---	---	---	---
LGALS12	85329	broad.mit.edu	37	11	63279225	63279225	+	Splice_Site	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:63279225A>T	ENST00000394618.3	+	7	917	c.626A>T	c.(625-627)gAg>gTg	p.E209V	LGALS12_ENST00000415491.2_Splice_Site_p.E148V|LGALS12_ENST00000340246.5_Splice_Site_p.E210V|LGALS12_ENST00000425950.2_Splice_Site_p.E139V|LGALS12_ENST00000255684.5_Splice_Site_p.E200V	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	209					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.E209V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TTCCTTCAGGAGGTGCCCTGC	0.612																																						uc001nxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(625-627)GAG>GTG		lectin, galactoside-binding, soluble, 12 isoform							87.0	75.0	79.0					11																	63279225		2201	4298	6499	SO:0001630	splice_region_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63279225A>T	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.625-1A>T	11.37:g.63279225A>T						LGALS12_uc001nxb.2_Missense_Mutation_p.E200V|LGALS12_uc001nxc.2_Missense_Mutation_p.E210V|LGALS12_uc001nxd.2_Missense_Mutation_p.E148V|LGALS12_uc001nxe.2_Missense_Mutation_p.E139V|LGALS12_uc009yot.2_Missense_Mutation_p.E169V	p.E209V	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			7	967	+			209					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.626A>T	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.278043	0.40294	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.89	-0.881	0.10607	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.669091	0.13692	N	0.369472	T	0.11879	0.0289	L	0.43152	1.355	0.26830	N	0.968607	P;P;B;B	0.38922	0.651;0.465;0.279;0.335	B;B;B;B	0.36766	0.084;0.232;0.124;0.116	T	0.19910	-1.0291	10	0.30854	T	0.27	-6.3962	6.7558	0.23512	0.4666:0.4438:0.0896:0.0	.	169;210;200;209	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	V	200;209;210;148;139	ENSP00000255684:E200V;ENSP00000378116:E209V;ENSP00000339374:E210V;ENSP00000394659:E148V;ENSP00000399093:E139V	ENSP00000255684:E200V	E	+	2	0	LGALS12	63035801	1.000000	0.71417	0.795000	0.32087	0.879000	0.50718	1.178000	0.31981	-0.011000	0.14247	0.379000	0.24179	GAG		PASS	0.612	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	Missense_Mutation	11	47	11	47	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66488695	66488695	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:66488695G>A	ENST00000533211.1	-	3	348	c.17C>T	c.(16-18)tCa>tTa	p.S6L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S6L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S6L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	6	Actin-binding.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.S6L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCTGTGGGTGACAGCGTGCT	0.592																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(16-18)TCA>TTA		spectrin, beta, non-erythrocytic 2							204.0	161.0	176.0					11																	66488695		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66488695G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.17C>T	11.37:g.66488695G>A	ENSP00000432568:p.Ser6Leu						p.S6L	NM_006946	NP_008877	O15020	SPTN2_HUMAN			2	89	-			6			Actin-binding.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.17C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467866	0.84533	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.78003	-0.62;-0.62;-0.63;-1.14	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000005	T	0.73946	0.3652	L	0.47716	1.5	0.58432	D	0.999994	P	0.42785	0.79	B	0.42422	0.387	T	0.76239	-0.3032	10	0.46703	T	0.11	.	14.6826	0.69028	0.0:0.0:1.0:0.0	.	6	O15020	SPTN2_HUMAN	L	6	ENSP00000432568:S6L;ENSP00000311489:S6L;ENSP00000433593:S6L;ENSP00000433631:S6L	ENSP00000311489:S6L	S	-	2	0	SPTBN2	66245271	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.403000	0.52615	2.278000	0.76064	0.561000	0.74099	TCA		PASS	0.592	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		15	69	15	69	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72424248	72424248	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:72424248C>A	ENST00000393609.3	-	5	922	c.720G>T	c.(718-720)ggG>ggT	p.G240G	ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000393605.3_5'Flank|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000455638.2_Silent_p.G240G|ARAP1_ENST00000359373.5_Silent_p.G240G|ARAP1_ENST00000334211.8_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	240					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G240G(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGCTGGGGCCCCCGGCCCCT	0.667																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(718-720)GGG>GGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							52.0	57.0	56.0					11																	72424248		1880	4099	5979	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72424248C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.720G>T	11.37:g.72424248C>A						ARAP1_uc001osv.2_Silent_p.G240G|ARAP1_uc001osr.2_5'UTR|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	p.G240G	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			5	909	-			240					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.720G>T	CCDS41687.1																																																																																				PASS	0.667	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		10	49	10	49	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445045	85445045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:85445045C>A	ENST00000528231.1	-	6	1601	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	SYTL2_ENST00000316356.4_Nonsense_Mutation_p.E443*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.E442*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.E394*|SYTL2_ENST00000389960.4_Nonsense_Mutation_p.E442*	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	442					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E443*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTTTGGGTTCATTGATGGTT	0.388																																						uc010rth.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1324-1326)GAA>TAA		synaptotagmin-like 2 isoform g							154.0	144.0	147.0					11																	85445045		2203	4299	6502	SO:0001587	stop_gained	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445045C>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1324G>T	11.37:g.85445045C>A	ENSP00000431701:p.Glu442*					SYTL2_uc010rtg.1_Nonsense_Mutation_p.E443*|SYTL2_uc010rti.1_Nonsense_Mutation_p.E442*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.E394*|SYTL2_uc001pbf.3_Nonsense_Mutation_p.E442*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.E300*	p.E442*	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1600	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	442					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	ENST00000528231.1	37	c.1324G>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773178	0.69992	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	.	.	.	6.08	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.44908	D	0.997922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4385	0.32801	0.0:0.7643:0.0:0.2357	.	.	.	.	X	442;443;442;394;442	.	.	E	-	1	0	SYTL2	85122693	0.008000	0.16893	0.287000	0.24848	0.007000	0.05969	0.507000	0.22675	0.920000	0.36970	-0.140000	0.14226	GAA		PASS	0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		20	135	20	135	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88337890	88337890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:88337890C>A	ENST00000305447.4	-	4	1539	c.1390G>T	c.(1390-1392)Gga>Tga	p.G464*	GRM5_ENST00000305432.5_Nonsense_Mutation_p.G464*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.G464*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.G464*|GRM5_ENST00000418177.2_Nonsense_Mutation_p.G464*	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	464					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G464*(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAATACCTTCCTGGAGAGTCT	0.423																																						uc001pcq.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1390-1392)GGA>TGA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						48.0	50.0	50.0					11																	88337890		2201	4299	6500	SO:0001587	stop_gained	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88337890C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1390G>T	11.37:g.88337890C>A	ENSP00000306138:p.Gly464*					GRM5_uc009yvm.2_Nonsense_Mutation_p.G464*	p.G464*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			4	1590	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	464			Extracellular (Potential).		Q6J164	Nonsense_Mutation	SNP	ENST00000305447.4	37	c.1390G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	40	8.333203	0.98764	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.984	0.97341	0.0:1.0:0.0:0.0	.	.	.	.	X	464	.	.	G	-	1	0	GRM5	87977538	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.487000	0.81328	2.734000	0.93682	0.446000	0.29264	GGA		PASS	0.423	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		7	33	7	33	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92714753	92714753	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:92714753C>A	ENST00000257068.2	+	2	370	c.364C>A	c.(364-366)Ctg>Atg	p.L122M		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	122					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.L122M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGTGATGGGCCTGAGCGTCAT	0.597																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(364-366)CTG>ATG		melatonin receptor 1B	Ramelteon(DB00980)						144.0	130.0	135.0					11																	92714753		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714753C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.364C>A	11.37:g.92714753C>A	ENSP00000257068:p.Leu122Met						p.L122M	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	467	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	122			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.364C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901633	0.52227	.	.	ENSG00000134640	ENST00000257068	T	0.72725	-0.68	3.97	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.78704	0.4325	M	0.73753	2.245	0.44447	D	0.997377	D	0.55385	0.971	D	0.64877	0.93	T	0.74919	-0.3500	10	0.38643	T	0.18	-9.695	8.2124	0.31492	0.1563:0.7603:0.0:0.0834	.	122	P49286	MTR1B_HUMAN	M	122	ENSP00000257068:L122M	ENSP00000257068:L122M	L	+	1	2	MTNR1B	92354401	0.460000	0.25776	0.999000	0.59377	0.960000	0.62799	0.466000	0.22019	0.438000	0.26450	0.491000	0.48974	CTG		PASS	0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			23	84	23	84	---	---	---	---
CCDC67	159989	broad.mit.edu	37	11	93097451	93097451	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:93097451G>C	ENST00000298050.3	+	5	523	c.423G>C	c.(421-423)caG>caC	p.Q141H		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	141					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.Q133H(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATTTGAACCAGAAATTAGAGG	0.333																																						uc001pdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)CAG>CAC		coiled-coil domain containing 67							59.0	56.0	57.0					11																	93097451		1810	4063	5873	SO:0001583	missense	159989							g.chr11:93097451G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.423G>C	11.37:g.93097451G>C	ENSP00000298050:p.Gln141His					CCDC67_uc001pdo.1_Missense_Mutation_p.Q141H|CCDC67_uc001pdp.2_Missense_Mutation_p.Q141H	p.Q141H	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			5	523	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	141			Potential.		Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.423G>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767734	0.49574	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	T;T;T	0.21932	1.98;1.98;1.98	5.25	0.728	0.18260	.	0.305904	0.28161	N	0.016380	T	0.24736	0.0600	L	0.54323	1.7	0.27776	N	0.943322	P;P;P	0.47604	0.898;0.797;0.875	P;P;P	0.50617	0.599;0.526;0.646	T	0.05068	-1.0908	10	0.52906	T	0.07	.	6.4923	0.22123	0.2459:0.1357:0.6184:0.0	.	141;141;133	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	H	141	ENSP00000432111:Q141H;ENSP00000298050:Q141H;ENSP00000434635:Q141H	ENSP00000298050:Q141H	Q	+	3	2	CCDC67	92737099	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.848000	0.39309	0.603000	0.29913	0.591000	0.81541	CAG		PASS	0.333	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		6	49	6	49	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105483132	105483132	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:105483132C>A	ENST00000530497.1	+	2	218	c.218C>A	c.(217-219)aCa>aAa	p.T73K	GRIA4_ENST00000393125.2_Missense_Mutation_p.T73K|GRIA4_ENST00000428631.2_Missense_Mutation_p.T73K|GRIA4_ENST00000282499.5_Missense_Mutation_p.T73K|GRIA4_ENST00000527669.1_Missense_Mutation_p.T73K|GRIA4_ENST00000525187.1_Missense_Mutation_p.T73K|GRIA4_ENST00000393127.2_Missense_Mutation_p.T73K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	73					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.T73K(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)		AACATTGAGACAGCCAACAGT	0.398																																						uc001pix.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(217-219)ACA>AAA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						105.0	96.0	99.0					11																	105483132		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.chr11:105483132C>A	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.218C>A	11.37:g.105483132C>A	ENSP00000435775:p.Thr73Lys					GRIA4_uc001piu.1_Missense_Mutation_p.T73K|GRIA4_uc001piw.2_Missense_Mutation_p.T73K|GRIA4_uc001piv.2_Missense_Mutation_p.T73K|GRIA4_uc009yxk.1_Missense_Mutation_p.T73K|GRIA4_uc001pit.2_Missense_Mutation_p.T73K	p.T73K	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	664	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	73			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.218C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246326	0.95305	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.167681	0.40554	N	0.001067	D	0.87641	0.6228	L	0.34521	1.04	0.80722	D	1	B;P;P;P;D	0.61080	0.372;0.837;0.866;0.624;0.989	B;P;P;B;D	0.72625	0.309;0.557;0.685;0.326;0.978	D	0.87684	0.2549	10	0.56958	D	0.05	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	73;73;103;73;73	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	K	73	ENSP00000376833:T73K;ENSP00000282499:T73K;ENSP00000376835:T73K;ENSP00000415551:T73K;ENSP00000432443:T73K;ENSP00000435775:T73K;ENSP00000432180:T73K	ENSP00000282499:T73K	T	+	2	0	GRIA4	104988342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	ACA		PASS	0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			5	67	5	67	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118971749	118971749	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:118971749A>G	ENST00000409993.2	-	4	1812	c.261T>C	c.(259-261)tgT>tgC	p.C87C	DPAGT1_ENST00000432443.2_Intron|DPAGT1_ENST00000354202.4_Silent_p.C87C|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	87					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.C87C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGAATGCCTTACACTGCTCCT	0.537											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvi.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(259-261)TGT>TGC		UDP-N-acetylglucosamine-dolichyl-phosphate							81.0	73.0	76.0					11																	118971749		2200	4295	6495	SO:0001819	synonymous_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971749A>G	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.261T>C	11.37:g.118971749A>G			OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_uc001pvj.2_Intron|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Silent_p.C87C|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_Intron	p.C87C	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	681	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	87			Lumenal (Potential).		O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	c.261T>C	CCDS8411.1																																																																																				PASS	0.537	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		17	46	17	46	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440849	124440849	+	Silent	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:124440849C>A	ENST00000284287.3	+	1	957	c.885C>A	c.(883-885)acC>acA	p.T295T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	295					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T295T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGTTCTACACCACGGTAATCC	0.478																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(883-885)ACC>ACA		olfactory receptor, family 8, subfamily A,							81.0	72.0	75.0					11																	124440849		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440849C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.885C>A	11.37:g.124440849C>A							p.T295T	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	885	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	295			Helical; Name=7; (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.885C>A	CCDS31712.1																																																																																				PASS	0.478	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		8	33	8	33	---	---	---	---
EI24	9538	broad.mit.edu	37	11	125448072	125448072	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:125448072C>A	ENST00000278903.6	+	6	602	c.360C>A	c.(358-360)ttC>ttA	p.F120L	EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.F120L|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	120					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F120L(2)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GGCTGGAATTCTTCCTCACGT	0.453																																						uc001qca.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(358-360)TTC>TTA		etoposide induced 2.4 isoform 1							204.0	186.0	192.0					11																	125448072		1918	4151	6069	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125448072C>A	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.360C>A	11.37:g.125448072C>A	ENSP00000278903:p.Phe120Leu					EI24_uc001qcb.2_Missense_Mutation_p.F120L|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Missense_Mutation_p.F120L|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Missense_Mutation_p.F106L|EI24_uc010sbf.1_RNA	p.F120L	NM_004879	NP_004870	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	6	602	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	120			Helical; (Potential).		A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.360C>A		.	.	.	.	.	.	.	.	.	.	C	12.66	2.003675	0.35320	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527131	.	.	.	5.83	2.5	0.30297	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.39633	1.23	0.58432	D	0.999993	D;D;D;D	0.69078	0.997;0.997;0.979;0.997	D;D;D;D	0.77004	0.989;0.989;0.982;0.989	T	0.55289	-0.8164	9	0.11485	T	0.65	-8.3033	10.8227	0.46614	0.0:0.7108:0.0:0.2892	.	106;120;120;120	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	120;120;163;120;120	.	ENSP00000278903:F120L	F	+	3	2	EI24	124953282	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.706000	0.25690	0.813000	0.34350	0.655000	0.94253	TTC		PASS	0.453	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		4	72	4	72	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181039	134181039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr11:134181039G>A	ENST00000431683.2	+	13	1262	c.1262G>A	c.(1261-1263)tGg>tAg	p.W421*		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	421					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.W82*(1)|p.W421*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCCCGCTGTGGGACGCCCTA	0.597																																						uc009zdf.2																			2	Substitution - Nonsense(2)		lung(2)	pancreas(1)	1						c.(1261-1263)TGG>TAG		galactosidase, beta 1 like 3							176.0	180.0	179.0					11																	134181039		2017	4167	6184	SO:0001587	stop_gained	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181039G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1262G>A	11.37:g.134181039G>A	ENSP00000396615:p.Trp421*					GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	p.W421*	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1622	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	421					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Nonsense_Mutation	SNP	ENST00000431683.2	37	c.1262G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290800	0.40494	.	.	ENSG00000166105	ENST00000431683	.	.	.	4.87	3.92	0.45320	.	0.116764	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2427	0.43321	0.0:0.0:0.7939:0.2061	.	.	.	.	X	421	.	ENSP00000396615:W421X	W	+	2	0	GLB1L3	133686249	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	3.613000	0.54152	1.338000	0.45544	0.455000	0.32223	TGG		PASS	0.597	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		29	92	29	92	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154154	5154154	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:5154154C>A	ENST00000252321.3	+	1	1070	c.841C>A	c.(841-843)Ctg>Atg	p.L281M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	281					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.L281M(1)|p.L281*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGAACGTGAGCTGCTCCGCCA	0.692																																						uc001qni.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|breast(2)	4						c.(841-843)CTG>ATG		potassium voltage-gated channel, shaker-related							61.0	64.0	63.0					12																	5154154		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154154C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.841C>A	12.37:g.5154154C>A	ENSP00000252321:p.Leu281Met						p.L281M	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1070	+			281					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.841C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317525	0.23908	.	.	ENSG00000130037	ENST00000252321	D	0.97831	-4.56	4.77	1.35	0.21983	.	.	.	.	.	D	0.93135	0.7814	L	0.28556	0.865	0.35323	D	0.784895	B	0.14012	0.009	B	0.17098	0.017	D	0.88730	0.3236	9	0.36615	T	0.2	.	4.6058	0.12376	0.1389:0.5291:0.2436:0.0883	.	281	P22460	KCNA5_HUMAN	M	281	ENSP00000252321:L281M	ENSP00000252321:L281M	L	+	1	2	KCNA5	5024415	0.037000	0.19845	1.000000	0.80357	0.972000	0.66771	-0.187000	0.09656	0.470000	0.27294	0.561000	0.74099	CTG		PASS	0.692	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		59	47	59	47	---	---	---	---
KLRF1	51348	broad.mit.edu	37	12	9997097	9997097	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:9997097G>T	ENST00000279544.3	+	6	735	c.671G>T	c.(670-672)aGt>aTt	p.S224I	KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000324214.4_Missense_Mutation_p.S174I	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	224	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.S224I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ACCTGCAGCAGTGTTTTCAAA	0.333																																						uc010sgw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(667-669)AGT>ATT		killer cell lectin-like receptor subfamily F,							72.0	69.0	70.0					12																	9997097		1813	4069	5882	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9997097G>T	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.671G>T	12.37:g.9997097G>T	ENSP00000279544:p.Ser224Ile					KLRF1_uc009zgw.2_Missense_Mutation_p.S174I|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_3'UTR|KLRF1_uc009zha.2_RNA	p.S223I	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN			7	732	+			224			C-type lectin.|Extracellular (Potential).		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	c.668G>T	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750423	0.15778	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.20463	2.07;2.07	2.79	0.925	0.19424	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18425	0.0442	L	0.56769	1.78	0.09310	N	1	P;P	0.40794	0.491;0.729	B;B	0.38803	0.258;0.282	T	0.13150	-1.0520	8	.	.	.	.	4.7921	0.13254	0.3028:0.0:0.6972:0.0	.	224;174	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	I	174;224	ENSP00000322487:S174I;ENSP00000279544:S224I	.	S	+	2	0	KLRF1	9888364	0.138000	0.22547	0.006000	0.13384	0.853000	0.48598	0.366000	0.20365	0.255000	0.21593	0.563000	0.77884	AGT		PASS	0.333	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		30	30	30	30	---	---	---	---
PLBD1	79887	broad.mit.edu	37	12	14659942	14659942	+	Silent	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:14659942G>T	ENST00000240617.5	-	9	1949	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	433					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R433R(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ATTTTGGCTCGTGGAGCTAAA	0.423																																						uc001rcc.1																			2	Substitution - coding silent(2)		prostate(1)|lung(1)		0						c.(1297-1299)CGA>AGA		phospholipase B domain containing 1							129.0	118.0	122.0					12																	14659942		2203	4300	6503	SO:0001819	synonymous_variant	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14659942G>T	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1297C>A	12.37:g.14659942G>T							p.R433R	NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN			9	1458	-			433					A8K4E9|Q9BVV3|Q9H625	Silent	SNP	ENST00000240617.5	37	c.1297C>A	CCDS31751.1																																																																																				PASS	0.423	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		72	64	72	64	---	---	---	---
ERP27	121506	broad.mit.edu	37	12	15068528	15068528	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:15068528T>C	ENST00000266397.2	-	6	1242	c.669A>G	c.(667-669)gcA>gcG	p.A223A	ERP27_ENST00000540097.1_Silent_p.A122A|ERP27_ENST00000544881.1_5'Flank	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	223						endoplasmic reticulum (GO:0005783)		p.A223A(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TCTGGTAAATTGCCAAAGCTG	0.413																																						uc001rco.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(667-669)GCA>GCG		endoplasmic reticulum protein 27 kDa precursor							110.0	105.0	107.0					12																	15068528		2203	4300	6503	SO:0001819	synonymous_variant	121506					endoplasmic reticulum lumen		g.chr12:15068528T>C	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.669A>G	12.37:g.15068528T>C							p.A223A	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			6	690	-			223						Silent	SNP	ENST00000266397.2	37	c.669A>G	CCDS8670.1																																																																																				PASS	0.413	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		10	99	10	99	---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45810620	45810620	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:45810620A>G	ENST00000320560.8	+	17	2352	c.2150A>G	c.(2149-2151)aAa>aGa	p.K717R	ANO6_ENST00000425752.2_Missense_Mutation_p.K717R|ANO6_ENST00000441606.2_Missense_Mutation_p.K699R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.K738R|ANO6_ENST00000435642.1_Missense_Mutation_p.K717R	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	717					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.K717R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTACCAGAGAAAGCCCAAGAC	0.483																																						uc001roo.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(2149-2151)AAA>AGA		anoctamin 6 isoform a							96.0	85.0	89.0					12																	45810620		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810620A>G	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2150A>G	12.37:g.45810620A>G	ENSP00000320087:p.Lys717Arg					ANO6_uc010sld.1_Missense_Mutation_p.K717R|ANO6_uc010sle.1_Missense_Mutation_p.K717R|ANO6_uc010slf.1_Missense_Mutation_p.K738R|ANO6_uc010slg.1_Missense_Mutation_p.K699R	p.K717R	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			17	2485	+			717			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2150A>G	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291281	0.40494	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	N	0.12569	0.235	0.58432	D	0.999998	D;B;D;B	0.89917	1.0;0.041;0.999;0.272	D;B;D;B	0.87578	0.994;0.086;0.998;0.311	T	0.51403	-0.8710	10	0.02654	T	1	.	16.3188	0.82938	1.0:0.0:0.0:0.0	.	699;738;717;717	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	R	717;738;717;717;699	ENSP00000391417:K717R;ENSP00000409126:K738R;ENSP00000413840:K717R;ENSP00000320087:K717R;ENSP00000413137:K699R	ENSP00000320087:K717R	K	+	2	0	ANO6	44096887	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	AAA		PASS	0.483	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		13	50	13	50	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320223	46320223	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:46320223A>G	ENST00000369367.3	-	11	3494	c.3261T>C	c.(3259-3261)ttT>ttC	p.F1087F	SCAF11_ENST00000549162.1_Silent_p.F895F|SCAF11_ENST00000465950.1_Silent_p.F772F|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Silent_p.F1087F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1087					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F1087F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTTTATAGGCAAAACTACTTC	0.428																																						uc001rox.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3259-3261)TTT>TTC		splicing factor, arginine/serine-rich 2,							67.0	71.0	70.0					12																	46320223		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320223A>G	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3261T>C	12.37:g.46320223A>G						SFRS2IP_uc001row.2_Silent_p.F772F|SFRS2IP_uc001roy.1_Silent_p.F1161F	p.F1087F	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3548	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1087					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.3261T>C	CCDS8748.2																																																																																				PASS	0.428	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		9	74	9	74	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48368475	48368475	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:48368475T>C	ENST00000380518.3	-	52	4221	c.4057A>G	c.(4057-4059)Atc>Gtc	p.I1353V	COL2A1_ENST00000337299.6_Missense_Mutation_p.I1284V|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1353	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.I1353V(1)|p.I1284V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACCATTGATGGTTTCTCCA	0.493																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4057-4059)ATC>GTC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						210.0	201.0	204.0					12																	48368475		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48368475T>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4057A>G	12.37:g.48368475T>C	ENSP00000369889:p.Ile1353Val					COL2A1_uc001rqt.2_Missense_Mutation_p.I134V|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1284V	p.I1353V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			52	4238	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1353			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.4057A>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222556	0.58668	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.72835	-0.69;-0.69	4.93	4.93	0.64822	Fibrillar collagen, C-terminal (3);	0.110607	0.64402	D	0.000012	T	0.65678	0.2714	L	0.48935	1.535	0.50813	D	0.999897	B;B	0.18968	0.026;0.032	B;B	0.20384	0.017;0.029	T	0.65158	-0.6236	10	0.62326	D	0.03	.	14.5351	0.67955	0.0:0.0:0.0:1.0	.	1284;1353	P02458-1;P02458	.;CO2A1_HUMAN	V	1353;1284;1284	ENSP00000369889:I1353V;ENSP00000338213:I1284V	ENSP00000338213:I1284V	I	-	1	0	COL2A1	46654742	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.165000	0.71891	1.979000	0.57680	0.459000	0.35465	ATC		PASS	0.493	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		48	137	48	137	---	---	---	---
DCD	117159	broad.mit.edu	37	12	55042031	55042031	+	Splice_Site	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:55042031G>A	ENST00000293371.6	-	1	246	c.57C>T	c.(55-57)gcC>gcT	p.A19A	DCD_ENST00000456047.2_Splice_Site_p.A19A	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	19					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.A19A(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CATACTCACAGGCACAGACCA	0.572																																						uc001sgj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(55-57)GCC>GCT		dermcidin preproprotein							105.0	88.0	93.0					12																	55042031		2203	4300	6503	SO:0001630	splice_region_variant	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55042031G>A	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.58+1C>T	12.37:g.55042031G>A						DCD_uc009znt.2_Silent_p.A19A|DCD_uc009znu.2_RNA	p.A19A	NM_053283	NP_444513	P81605	DCD_HUMAN			1	119	-		Myeloproliferative disorder(1001;0.0255)	19					A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	37	c.57C>T	CCDS8884.1																																																																																				PASS	0.572	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	Silent	3	29	3	29	---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69666975	69666975	+	3'UTR	SNP	A	A	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:69666975A>C	ENST00000435070.2	+	0	5453					NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa						mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTAGAAAGAAGCAATATGAA	0.294																																						hsa-mir-1279|MI0006426																			0					0															63.0	59.0	60.0					12																	69666975		1567	3573	5140	SO:0001624	3_prime_UTR_variant	100302182							g.chr12:69666975A>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.*3687A>C	12.37:g.69666975A>C						CPSF6_uc001sut.3_3'UTR|CPSF6_uc001suu.3_3'UTR|CPSF6_uc010stk.1_3'UTR										-								A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	RNA	SNP	ENST00000435070.2	37	c.24A>C	CCDS8988.1																																																																																				PASS	0.294	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		14	52	14	52	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81741394	81741394	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:81741394G>C	ENST00000549396.1	-	18	2310	c.2150C>G	c.(2149-2151)tCt>tGt	p.S717C	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S699C|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S717C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S717C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S717C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S643C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S284C|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S618C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S564C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S699C	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	717					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.S717C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGGGGGAGATGAACTGGC	0.557																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2149-2151)TCT>TGT		PTPRF interacting protein alpha 2							147.0	153.0	151.0					12																	81741394		2000	4155	6155	SO:0001583	missense	8499							g.chr12:81741394G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2150C>G	12.37:g.81741394G>C	ENSP00000450337:p.Ser717Cys					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.S717C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2311	-			643					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2150C>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799556	0.90538	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.76179	-0.3054	10	0.62326	D	0.03	-11.8463	19.7929	0.96466	0.0:0.0:1.0:0.0	.	717	O75334	LIPA2_HUMAN	C	717;699;284;643;728;699;717;618;717	ENSP00000450337:S717C;ENSP00000450298:S699C;ENSP00000438337:S284C;ENSP00000385093:S643C;ENSP00000327416:S699C;ENSP00000449338:S717C;ENSP00000388373:S618C;ENSP00000447868:S717C	ENSP00000327416:S699C	S	-	2	0	PPFIA2	80265525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.741000	0.93983	0.650000	0.86243	TCT		PASS	0.557	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			21	82	21	82	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94603390	94603390	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:94603390A>G	ENST00000258526.4	+	5	1713	c.1464A>G	c.(1462-1464)gtA>gtG	p.V488V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	488					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V488V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGATTGTGTACATTCAGAGA	0.398																																						uc001tdc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1462-1464)GTA>GTG		plexin C1 precursor							183.0	189.0	187.0					12																	94603390		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603390A>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1464A>G	12.37:g.94603390A>G							p.V488V	NM_005761	NP_005752	O60486	PLXC1_HUMAN			5	1713	+			488			Extracellular (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.1464A>G	CCDS9049.1																																																																																				PASS	0.398	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			40	153	40	153	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102161813	102161813	+	Splice_Site	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:102161813A>G	ENST00000299314.7	-	11	1671		c.e11+1		GNPTAB_ENST00000549940.1_Silent_p.G470G|RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits						carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACACATCCTTACCAGAGCAAT	0.393																																						uc001tit.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e11+1		N-acetylglucosamine-1-phosphate transferase							96.0	88.0	91.0					12																	102161813		2203	4300	6503	SO:0001630	splice_region_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102161813A>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1408+1T>C	12.37:g.102161813A>G						GNPTAB_uc001tiu.1_Silent_p.G470G	p.G470_splice	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			11	1587	-								A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Splice_Site	SNP	ENST00000299314.7	37	c.1408_splice	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	9.963	1.223220	0.22457	.	.	ENSG00000111670	ENST00000299314	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2826	0.82703	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GNPTAB	100685944	1.000000	0.71417	0.998000	0.56505	0.046000	0.14306	6.848000	0.75409	2.307000	0.77673	0.528000	0.53228	.		PASS	0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		Intron	13	34	13	34	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132561125	132561125	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr12:132561125C>G	ENST00000333577.4	+	53	9303	c.9194C>G	c.(9193-9195)tCt>tGt	p.S3065C	EP400_ENST00000332482.4_Missense_Mutation_p.S2992C|EP400_ENST00000389561.2_Missense_Mutation_p.S3029C|EP400_ENST00000389562.2_Missense_Mutation_p.S3028C|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Missense_Mutation_p.S2948C			Q96L91	EP400_HUMAN	E1A binding protein p400	3065					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S3028C(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAAGTTGCCTCTGCTTCCCAG	0.448																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(9085-9087)TCT>TGT		E1A binding protein p400							75.0	67.0	70.0					12																	132561125		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132561125C>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9194C>G	12.37:g.132561125C>G	ENSP00000333602:p.Ser3065Cys					EP400_uc001ujl.2_Missense_Mutation_p.S3028C|EP400_uc001ujm.2_Missense_Mutation_p.S2948C|EP400_uc001ujp.2_Missense_Mutation_p.S239C|EP400_uc010tbo.1_Silent_p.L95L	p.S3029C	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	51	9121	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3065					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.9086C>G		.	.	.	.	.	.	.	.	.	.	C	14.53	2.562120	0.45590	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.94184	-3.34;-3.34;-3.25;-3.35;-3.37	4.58	4.58	0.56647	.	0.212952	0.41194	D	0.000932	D	0.94295	0.8167	L	0.29908	0.895	0.40479	D	0.980424	D;D;D;D	0.76494	0.999;0.998;0.997;0.998	D;D;D;D	0.74023	0.982;0.912;0.912;0.912	D	0.95661	0.8715	10	0.72032	D	0.01	.	17.3884	0.87423	0.0:1.0:0.0:0.0	.	3065;3029;2948;3028	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	C	3065;3029;3028;2992;2948;3029	ENSP00000333602:S3065C;ENSP00000374212:S3029C;ENSP00000374213:S3028C;ENSP00000331737:S2992C;ENSP00000330620:S2948C	ENSP00000330620:S2948C	S	+	2	0	EP400	131127078	1.000000	0.71417	0.471000	0.27229	0.653000	0.38743	6.759000	0.74934	2.082000	0.62665	0.462000	0.41574	TCT		PASS	0.448	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	23	7	23	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25009391	25009391	+	Silent	SNP	T	T	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr13:25009391T>G	ENST00000381989.3	-	31	3993	c.3888A>C	c.(3886-3888)acA>acC	p.T1296T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1296					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T1296T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTCAGTTGCTGTTGGTTTAC	0.433																																						uc001upl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3886-3888)ACA>ACC		poly (ADP-ribose) polymerase family, member 4							99.0	104.0	102.0					13																	25009391		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25009391T>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3888A>C	13.37:g.25009391T>G							p.T1296T	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	3994	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1296					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.3888A>C	CCDS9307.1																																																																																				PASS	0.433	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		26	58	26	58	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33225993	33225993	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr13:33225993A>T	ENST00000315596.10	+	3	347	c.161A>T	c.(160-162)gAg>gTg	p.E54V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	54					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E54V(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GAAGAAAAGGAGCTTTATTTA	0.338																																						uc010abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(160-162)GAG>GTG		PDS5, regulator of cohesion maintenance, homolog							105.0	103.0	104.0					13																	33225993		1828	4077	5905	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33225993A>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.161A>T	13.37:g.33225993A>T	ENSP00000313851:p.Glu54Val					PDS5B_uc001uun.2_Missense_Mutation_p.E54V|PDS5B_uc001uuo.2_Missense_Mutation_p.E54V|PDS5B_uc010abg.2_RNA	p.E54V	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	3	319	+		Lung SC(185;0.0367)	54					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.161A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909668	0.92107	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69561	-0.41	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.36672	1.1	0.80722	D	1	P;P;P	0.42375	0.778;0.481;0.486	P;B;B	0.51415	0.669;0.217;0.356	T	0.69921	-0.5014	10	0.48119	T	0.1	-17.8705	16.0668	0.80887	1.0:0.0:0.0:0.0	.	54;54;54	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	V	54	ENSP00000313851:E54V	ENSP00000313851:E54V	E	+	2	0	PDS5B	32123993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.246000	0.74042	0.533000	0.62120	GAG		PASS	0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		38	81	38	81	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444720	20444720	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:20444720A>T	ENST00000305051.5	+	1	1118	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	348						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K348M(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAGAAACAAAGTAAACTTAT	0.393																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1042-1044)AAG>ATG		olfactory receptor, family 4, subfamily K,							27.0	29.0	29.0					14																	20444720		2093	4212	6305	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444720A>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.1043A>T	14.37:g.20444720A>T	ENSP00000304077:p.Lys348Met						p.K348M	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	1043	+	all_cancers(95;0.00108)		348			Cytoplasmic (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.1043A>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	4.172	0.030533	0.08101	.	.	ENSG00000169488	ENST00000305051	T	0.17528	2.27	4.03	2.65	0.31530	.	0.161534	0.28914	N	0.013728	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.36289	0.221	T	0.23976	-1.0173	10	0.87932	D	0	.	5.8119	0.18471	0.816:0.0:0.184:0.0	.	348	Q8NH41	OR4KF_HUMAN	M	348	ENSP00000304077:K348M	ENSP00000304077:K348M	K	+	2	0	OR4K15	19514560	0.054000	0.20591	0.022000	0.16811	0.015000	0.08874	1.866000	0.39489	1.590000	0.49995	0.482000	0.46254	AAG		PASS	0.393	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			4	20	4	20	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24626559	24626559	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:24626559G>T	ENST00000324103.6	+	15	2874	c.2554G>T	c.(2554-2556)Gac>Tac	p.D852Y	RNF31_ENST00000382687.3_Missense_Mutation_p.D701Y|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.D327Y|RNF31_ENST00000559275.1_Missense_Mutation_p.D701Y	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	852					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D852Y(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACGCATGAACGACCCAGAATA	0.557																																						uc001wmn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2554-2556)GAC>TAC		ring finger protein 31							74.0	81.0	79.0					14																	24626559		1980	4151	6131	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24626559G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2554G>T	14.37:g.24626559G>T	ENSP00000315112:p.Asp852Tyr					RNF31_uc001wml.1_Missense_Mutation_p.D701Y|RNF31_uc010alg.1_Missense_Mutation_p.D611Y|RNF31_uc001wmo.1_Missense_Mutation_p.D319Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.D36Y	p.D852Y	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	15	2803	+			852					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.2554G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158725	0.78226	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.77620	-1.11;-1.11	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;0.999;1.0	D	0.88851	0.3319	10	0.87932	D	0	-26.5278	18.0173	0.89245	0.0:0.0:1.0:0.0	.	852;611;852;701	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	Y	285;852;701	ENSP00000315112:D852Y;ENSP00000372134:D701Y	ENSP00000315112:D852Y	D	+	1	0	RNF31	23696399	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	8.449000	0.90337	2.788000	0.95919	0.650000	0.86243	GAC		PASS	0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		6	24	6	24	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42361008	42361008	+	Silent	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:42361008T>A	ENST00000298119.4	+	4	3130	c.1941T>A	c.(1939-1941)acT>acA	p.T647T	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	647						integral component of membrane (GO:0016021)		p.T647T(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)		AAAGAAAGACTGGCACAAAGC	0.468										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1939-1941)ACT>ACA		leucine rich repeat and fibronectin type III							99.0	81.0	87.0					14																	42361008		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42361008T>A	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.1941T>A	14.37:g.42361008T>A		HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.T647T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3139	+			647			Cytoplasmic (Potential).		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1941T>A	CCDS9678.1																																																																																				PASS	0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		6	21	6	21	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55458047	55458047	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:55458047G>C	ENST00000360586.3	-	12	1290	c.1225C>G	c.(1225-1227)Cac>Gac	p.H409D	WDHD1_ENST00000420358.2_Missense_Mutation_p.H286D|WDHD1_ENST00000359167.4_5'UTR|WDHD1_ENST00000421192.1_Missense_Mutation_p.H286D	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	409					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.H409D(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GGTAGATTGTGAATGCTGCCT	0.428																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1225-1227)CAC>GAC		WD repeat and HMG-box DNA binding protein 1							230.0	209.0	216.0					14																	55458047		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55458047G>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1225C>G	14.37:g.55458047G>C	ENSP00000353793:p.His409Asp					WDHD1_uc010aom.1_5'UTR|WDHD1_uc001xbn.1_Missense_Mutation_p.H286D	p.H409D	NM_007086	NP_009017	O75717	WDHD1_HUMAN			12	1303	-			409					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1225C>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.282229	0.01398	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.61510	0.45;0.1	5.37	4.48	0.54585	.	0.656564	0.16135	N	0.228011	T	0.51193	0.1660	L	0.60455	1.87	0.23751	N	0.996944	B	0.14805	0.011	B	0.08055	0.003	T	0.37934	-0.9684	10	0.16420	T	0.52	.	12.0626	0.53570	0.1438:0.0:0.8562:0.0	.	409	O75717	WDHD1_HUMAN	D	409;286	ENSP00000353793:H409D;ENSP00000391049:H286D	ENSP00000353793:H409D	H	-	1	0	WDHD1	54527797	0.296000	0.24398	0.065000	0.19835	0.430000	0.31655	1.265000	0.33027	1.258000	0.44101	0.655000	0.94253	CAC		PASS	0.428	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		16	65	16	65	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64990087	64990087	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:64990087G>A	ENST00000554015.1	+	4	2296	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	ZBTB1_ENST00000358738.3_Missense_Mutation_p.R622Q|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.R622Q			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	622					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R622Q(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGTCAGTTGCGACTGCACAAT	0.403																																						uc001xhh.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1864-1866)CGA>CAA		zinc finger and BTB domain containing 1 isoform							127.0	120.0	122.0					14																	64990087		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64990087G>A	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1865G>A	14.37:g.64990087G>A	ENSP00000451000:p.Arg622Gln					ZBTB1_uc010aqg.2_Missense_Mutation_p.R622Q|ZBTB1_uc001xhi.2_Missense_Mutation_p.R622Q	p.R622Q	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	2296	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	622			C2H2-type 5.		A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.1865G>A	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345853	0.61073	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.60797	0.16;0.16;0.16	5.33	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.719064	0.12762	N	0.441290	T	0.55210	0.1906	L	0.39692	1.235	0.54753	D	0.999984	D;D	0.63880	0.993;0.967	P;B	0.48654	0.585;0.276	T	0.43766	-0.9371	10	0.21540	T	0.41	-11.7326	13.8847	0.63702	0.0735:0.0:0.9265:0.0	.	622;622	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	Q	622	ENSP00000451000:R622Q;ENSP00000351587:R622Q;ENSP00000378201:R622Q	ENSP00000351587:R622Q	R	+	2	0	ZBTB1	64059840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.430000	0.97488	1.256000	0.44068	0.650000	0.86243	CGA		PASS	0.403	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			6	90	6	90	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72085580	72085580	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:72085580C>T	ENST00000555818.1	+	3	1953	c.1605C>T	c.(1603-1605)taC>taT	p.Y535Y	SIPA1L1_ENST00000358550.2_Silent_p.Y535Y|SIPA1L1_ENST00000381232.3_Silent_p.Y535Y|SIPA1L1_ENST00000537413.1_Silent_p.Y10Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	535					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.Y535Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGTACAACTACCGAATAATTT	0.403																																						uc001xms.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1603-1605)TAC>TAT		signal-induced proliferation-associated 1 like							83.0	83.0	83.0					14																	72085580		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72085580C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1605C>T	14.37:g.72085580C>T						SIPA1L1_uc001xmt.2_Silent_p.Y535Y|SIPA1L1_uc001xmu.2_Silent_p.Y535Y|SIPA1L1_uc001xmv.2_Silent_p.Y535Y|SIPA1L1_uc010ttm.1_Silent_p.Y10Y	p.Y535Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	3	1953	+			535					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.1605C>T	CCDS9807.1																																																																																				PASS	0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	44	9	44	---	---	---	---
PSEN1	5663	broad.mit.edu	37	14	73653560	73653560	+	Splice_Site	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:73653560G>C	ENST00000324501.5	+	6	752		c.e6-1		PSEN1_ENST00000394164.1_Splice_Site|PSEN1_ENST00000344094.3_Splice_Site|PSEN1_ENST00000406768.1_Splice_Site|PSEN1_ENST00000357710.4_Splice_Site|PSEN1_ENST00000557511.1_Splice_Site|PSEN1_ENST00000261970.3_Splice_Site	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1						activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTCTTTTCTAGGTCATCCATG	0.348																																						uc001xnr.2																			1	Unknown(1)		lung(1)	breast(1)|kidney(1)	2	GRCh37	CP025174	PSEN1	X		c.e6-1		presenilin 1 isoform I-467							237.0	223.0	228.0					14																	73653560		2202	4300	6502	SO:0001630	splice_region_variant	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73653560G>C	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.481-1G>C	14.37:g.73653560G>C						PSEN1_uc001xnv.2_Splice_Site_p.V157_splice|PSEN1_uc010ark.2_Splice_Site_p.V157_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site|uc010ttv.1_5'Flank	p.V161_splice	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	6	765	+								B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Splice_Site	SNP	ENST00000324501.5	37	c.481_splice	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340269	0.81911	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3157	0.94213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSEN1	72723313	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	8.992000	0.93519	2.638000	0.89438	0.313000	0.20887	.		PASS	0.348	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		Intron	28	107	28	107	---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94420705	94420705	+	Missense_Mutation	SNP	C	C	A	rs200689971		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:94420705C>A	ENST00000315988.4	-	2	780	c.292G>T	c.(292-294)Gca>Tca	p.A98S	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.A146S	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	98					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.A98S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCATAGTATGCGGCCTCGTGC	0.607																																						uc001ycc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(292-294)GCA>TCA		ankyrin repeat and SOCS box-containing protein							75.0	60.0	65.0					14																	94420705		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94420705C>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.292G>T	14.37:g.94420705C>A	ENSP00000320675:p.Ala98Ser					ASB2_uc001ycd.2_Missense_Mutation_p.A146S|ASB2_uc001yce.1_Missense_Mutation_p.A44S	p.A98S	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	2	781	-		all_cancers(154;0.13)	98			ANK 2.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.292G>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.674958	0.67928	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287;ENST00000557613	T;T;T;T;T;T	0.74526	-0.32;-0.32;-0.32;-0.85;-0.32;-0.32	5.54	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.162995	0.53938	D	0.000054	D	0.82356	0.5019	L	0.58925	1.835	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.979;0.999;0.979	T	0.79878	-0.1617	10	0.25751	T	0.34	-0.8984	14.1176	0.65164	0.0:0.928:0.0:0.072	.	114;146;98	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	S	146;114;98;44;44;44;64;111	ENSP00000451575:A146S;ENSP00000320675:A98S;ENSP00000450940:A44S;ENSP00000451694:A44S;ENSP00000451654:A64S;ENSP00000451355:A111S	ENSP00000320675:A98S	A	-	1	0	ASB2	93490458	1.000000	0.71417	0.948000	0.38648	0.269000	0.26545	4.538000	0.60650	1.344000	0.45657	0.655000	0.94253	GCA		PASS	0.607	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			10	35	10	35	---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96707244	96707245	+	Missense_Mutation	DNP	GG	GG	TT	rs546829915		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:96707244_96707245GG>TT	ENST00000306005.3	+	3	775_776	c.579_580GG>TT	c.(577-582)ctGGtg>ctTTtg	p.V194L	BDKRB2_ENST00000539359.1_Missense_Mutation_p.V167L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.V194L|BDKRB2_ENST00000542454.2_Missense_Mutation_p.V167L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	194					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.V194L(2)|p.L193L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CACCCATGCTGGTGTTCCGGAC	0.584																																						uc010avm.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(1)|kidney(1)	5						c.(577-579)CTG>CTT|c.(580-582)GTG>TTG		bradykinin receptor B2																																				SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707244G>T|g.chr14:96707245G>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		Exception_encountered	14.37:g.96707244_96707245delinsTT	ENSP00000307713:p.Val194Leu					BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.L166L|BDKRB2_uc001yfg.2_Silent_p.L193L|BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.V167L|BDKRB2_uc001yfg.2_Missense_Mutation_p.V194L	p.L193L|p.V194L	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	775|776	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	193|194			Helical; Name=4; (Potential).			Silent|Missense_Mutation	SNP	ENST00000306005.3	37	c.579G>T|c.580G>T	CCDS9942.1																																																																																				PASS	0.584	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			14	62|60	14	60	---	---	---	---
IGHV5-51	28388	broad.mit.edu	37	14	107034795	107034795	+	RNA	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr14:107034795G>A	ENST00000390626.2	-	0	343									immunoglobulin heavy variable 5-51																		AGGCGGTGCTGATGGACTTGT	0.582																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							142.0	158.0	152.0					14																	107034795		2137	4260	6397			8755							g.chr14:107034795G>A	M99686		14q32.33	2012-02-08			ENSG00000211966	ENSG00000211966		"""Immunoglobulins / IGH locus"""	5659	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151960		14.37:g.107034795G>A						uc001ysz.2_Silent_p.I95I								154		-									RNA	SNP	ENST00000390626.2	37	c.7438C>T																																																																																					PASS	0.582	IGHV5-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324606.1	NG_001019		18	59	18	59	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22861915	22861915	+	Silent	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:22861915G>C	ENST00000283645.4	+	14	2065	c.1935G>C	c.(1933-1935)ctG>ctC	p.L645L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L645L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	645					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.L645L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGATCCACTGCTTGCCATTA	0.433																																						uc001yur.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1933-1935)CTG>CTC		tubulin, gamma complex associated protein 5							143.0	119.0	127.0					15																	22861915		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22861915G>C	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1935G>C	15.37:g.22861915G>C						TUBGCP5_uc001yuq.2_Silent_p.L645L|TUBGCP5_uc010axz.1_Silent_p.L232L	p.L645L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	14	2065	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	645					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.1935G>C	CCDS10008.1																																																																																				PASS	0.433	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		25	76	25	76	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34130138	34130138	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:34130138C>A	ENST00000389232.4	+	89	12027	c.11957C>A	c.(11956-11958)cCa>cAa	p.P3986Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P3981Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3986					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P3985Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCATGAGCCAGCCAAGGAC	0.453																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(11956-11958)CCA>CAA		ryanodine receptor 3							127.0	128.0	128.0					15																	34130138		1963	4156	6119	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130138C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11957C>A	15.37:g.34130138C>A	ENSP00000373884:p.Pro3986Gln					RYR3_uc010bar.2_Missense_Mutation_p.P3981Q	p.P3986Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12027	+		all_lung(180;7.18e-09)	3986					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11957C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947906	0.73787	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97688	-4.49	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.99640	1.0988	10	0.87932	D	0	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	3981;3986	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3986;3982	ENSP00000373884:P3986Q	ENSP00000354735:P3982Q	P	+	2	0	RYR3	31917430	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	7.554000	0.82212	2.817000	0.96982	0.551000	0.68910	CCA		PASS	0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	87	19	87	---	---	---	---
PGBD4	161779	broad.mit.edu	37	15	34396022	34396022	+	Silent	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:34396022A>T	ENST00000397766.2	+	1	1749	c.1290A>T	c.(1288-1290)gcA>gcT	p.A430A	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	430								p.A430A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATATGGGAGCAGTGGACTCGG	0.378																																						uc001zho.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1288-1290)GCA>GCT		piggyBac transposable element derived 4							77.0	68.0	71.0					15																	34396022		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34396022A>T	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1290A>T	15.37:g.34396022A>T						C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.A430A	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1749	+		all_lung(180;1.76e-08)	430					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.1290A>T	CCDS10033.1																																																																																				PASS	0.378	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			9	54	9	54	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35275459	35275459	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:35275459C>T	ENST00000356321.4	-	3	521	c.177G>A	c.(175-177)gtG>gtA	p.V59V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	59					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.V59V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTTTATGACACACATCACATT	0.343																																						uc001ziw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)GTG>GTA		zinc finger protein 770							78.0	75.0	76.0					15																	35275459		2201	4296	6497	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275459C>T	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.177G>A	15.37:g.35275459C>T							p.V59V	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	488	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	59			C2H2-type 2.		Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.177G>A	CCDS10042.1																																																																																				PASS	0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		9	70	9	70	---	---	---	---
CASC4	113201	broad.mit.edu	37	15	44673094	44673094	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:44673094A>G	ENST00000345795.2	+	8	1262	c.992A>G	c.(991-993)gAc>gGc	p.D331G	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.D331G	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	331						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D331G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAACTTGGACAGTGAACCC	0.398																																						uc001zto.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)GAC>GGC		cancer susceptibility candidate 4 isoform a							76.0	70.0	72.0					15																	44673094		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44673094A>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.992A>G	15.37:g.44673094A>G	ENSP00000335063:p.Asp331Gly					CASC4_uc001ztp.2_Missense_Mutation_p.D331G|CASC4_uc001ztq.2_Missense_Mutation_p.D331G	p.D331G	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	8	1291	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	331			Lumenal (Potential).		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.992A>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812180	0.50527	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	5.24	4.07	0.47477	.	0.324883	0.36740	N	0.002428	T	0.40815	0.1132	L	0.43152	1.355	0.80722	D	1	B;B;P	0.37663	0.066;0.449;0.604	B;B;B	0.34873	0.05;0.133;0.191	T	0.22243	-1.0222	9	0.44086	T	0.13	.	8.0671	0.30667	0.8194:0.0:0.0:0.1806	.	331;331;331	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	G	331;331;310	.	ENSP00000299957:D331G	D	+	2	0	CASC4	42460386	0.999000	0.42202	0.900000	0.35374	0.916000	0.54674	2.544000	0.45761	0.775000	0.33450	0.397000	0.26171	GAC		PASS	0.398	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		16	41	16	41	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50904864	50904864	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:50904864C>A	ENST00000313478.7	-	16	2214	c.1933G>T	c.(1933-1935)Ggt>Tgt	p.G645C	TRPM7_ENST00000560955.1_Missense_Mutation_p.G645C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	645					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G645C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATTCTTCACCATGTTGCCAT	0.413																																						uc001zyt.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1933-1935)GGT>TGT		transient receptor potential cation channel,							163.0	152.0	156.0					15																	50904864		1884	4115	5999	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50904864C>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1933G>T	15.37:g.50904864C>A	ENSP00000320239:p.Gly645Cys					TRPM7_uc010bew.1_Missense_Mutation_p.G645C|TRPM7_uc001zyu.2_Missense_Mutation_p.G203C	p.G645C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	16	2197	-			645			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1933G>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878977	0.91740	.	.	ENSG00000092439	ENST00000313478	T	0.73681	-0.77	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.87406	0.6169	M	0.87381	2.88	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	D	0.89507	0.3768	10	0.87932	D	0	-7.094	19.1653	0.93555	0.0:1.0:0.0:0.0	.	645	Q96QT4	TRPM7_HUMAN	C	645	ENSP00000320239:G645C	ENSP00000320239:G645C	G	-	1	0	TRPM7	48692156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.603000	0.88011	0.585000	0.79938	GGT		PASS	0.413	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		24	86	24	86	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	52005588	52005588	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:52005588T>C	ENST00000220478.3	+	11	1669	c.1266T>C	c.(1264-1266)caT>caC	p.H422H	SCG3_ENST00000542355.2_Silent_p.H190H|RP11-313P18.1_ENST00000557891.1_RNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	422					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.H422H(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TGAAGAAACATGACAAAAAGG	0.368																																						uc002abh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1264-1266)CAT>CAC		secretogranin III isoform 1 precursor							112.0	118.0	116.0					15																	52005588		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:52005588T>C	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.1266T>C	15.37:g.52005588T>C						SCG3_uc010ufz.1_Silent_p.H190H	p.H422H	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	11	1674	+			422					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.1266T>C	CCDS10142.1																																																																																				PASS	0.368	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		13	63	13	63	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62315669	62315669	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:62315669G>C	ENST00000261517.5	-	8	638	c.565C>G	c.(565-567)Caa>Gaa	p.Q189E	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q189E|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q146E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q146E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.Q189E(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTATTACTTGAGTTGCCAAT	0.239																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(565-567)CAA>GAA		vacuolar protein sorting 13C protein isoform 2A							31.0	32.0	32.0					15																	62315669		2169	4247	6416	SO:0001583	missense	54832				protein localization			g.chr15:62315669G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.565C>G	15.37:g.62315669G>C	ENSP00000261517:p.Gln189Glu					VPS13C_uc002aha.2_Missense_Mutation_p.Q146E|VPS13C_uc002ahb.1_Missense_Mutation_p.Q189E|VPS13C_uc002ahc.1_Missense_Mutation_p.Q146E	p.Q189E	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			8	639	-			189						Missense_Mutation	SNP	ENST00000261517.5	37	c.565C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072682	0.76415	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45668	0.91;0.89;1.06	5.08	5.08	0.68730	.	0.149521	0.45867	D	0.000339	T	0.69904	0.3163	M	0.87456	2.885	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.79784	0.993;0.98;0.978;0.93	T	0.76176	-0.3055	10	0.87932	D	0	.	17.5985	0.88018	0.0:0.0:1.0:0.0	.	146;189;146;189	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	E	146;189;189;189	ENSP00000249837:Q146E;ENSP00000261517:Q189E;ENSP00000379233:Q189E	ENSP00000249837:Q146E	Q	-	1	0	VPS13C	60102961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.815000	0.91973	2.527000	0.85204	0.585000	0.79938	CAA		PASS	0.239	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	17	4	17	---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67786640	67786640	+	Missense_Mutation	SNP	G	G	A	rs573462466		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:67786640G>A	ENST00000335894.4	+	20	2972	c.2906G>A	c.(2905-2907)cGc>cAc	p.R969H	IQCH_ENST00000546225.1_Missense_Mutation_p.R626H|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Silent_p.S609S|IQCH_ENST00000358767.3_Silent_p.S684S	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	969								p.R969H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACCTTTGCTCGCCATCTCTTC	0.403																																						uc002aqo.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2905-2907)CGC>CAC		IQ motif containing H isoform 1							102.0	89.0	93.0					15																	67786640		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67786640G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2906G>A	15.37:g.67786640G>A	ENSP00000336861:p.Arg969His					IQCH_uc002aqq.1_Missense_Mutation_p.R626H|IQCH_uc002aqp.1_Silent_p.S609S|uc002aqr.1_Intron	p.R969H	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	20	2953	+			969					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2906G>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.820024	0.32145	.	.	ENSG00000103599	ENST00000546225;ENST00000335894	T;T	0.16897	2.31;2.31	5.62	2.39	0.29439	.	0.292698	0.38897	N	0.001529	T	0.12305	0.0299	L	0.39633	1.23	0.44668	D	0.997658	B;B	0.33755	0.305;0.424	B;B	0.26614	0.048;0.071	T	0.09079	-1.0691	10	0.52906	T	0.07	-20.9927	9.7524	0.40483	0.3306:0.0:0.6694:0.0	.	626;969	Q86VS3-2;Q86VS3	.;IQCH_HUMAN	H	626;969	ENSP00000444118:R626H;ENSP00000336861:R969H	ENSP00000336861:R969H	R	+	2	0	IQCH	65573694	0.996000	0.38824	1.000000	0.80357	0.953000	0.61014	0.579000	0.23788	0.760000	0.33108	-0.781000	0.03364	CGC		PASS	0.403	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		5	22	5	22	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73581536	73581536	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:73581536G>A	ENST00000339362.5	+	26	4146	c.3699G>A	c.(3697-3699)atG>atA	p.M1233I	NEO1_ENST00000261908.6_Missense_Mutation_p.M1233I|NEO1_ENST00000558964.1_Missense_Mutation_p.M1222I|NEO1_ENST00000560262.1_Missense_Mutation_p.M1233I			Q92859	NEO1_HUMAN	neogenin 1	1233					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M1233I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGCGAGGAATGAGACCAAAAA	0.498																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3697-3699)ATG>ATA		neogenin homolog 1 precursor							179.0	119.0	139.0					15																	73581536		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73581536G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3699G>A	15.37:g.73581536G>A	ENSP00000341198:p.Met1233Ile					NEO1_uc010ukx.1_Missense_Mutation_p.M1222I|NEO1_uc010uky.1_Missense_Mutation_p.M1233I|NEO1_uc010ukz.1_Missense_Mutation_p.M646I|NEO1_uc002avn.3_Missense_Mutation_p.M871I	p.M1233I	NM_002499	NP_002490	Q92859	NEO1_HUMAN			25	3841	+			1233			Cytoplasmic (Potential).		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3699G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150493	0.57151	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.43688	0.94;0.94	5.48	5.48	0.80851	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.60455	1.87	0.80722	D	1	P;P;B;P	0.41498	0.752;0.629;0.242;0.629	B;B;B;B	0.41691	0.364;0.222;0.101;0.316	T	0.28332	-1.0047	10	0.22706	T	0.39	-18.2685	19.387	0.94560	0.0:0.0:1.0:0.0	.	1233;1222;944;1233	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1233;944;1233	ENSP00000341198:M1233I;ENSP00000261908:M1233I	ENSP00000261908:M1233I	M	+	3	0	NEO1	71368589	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.444000	0.97578	2.572000	0.86782	0.655000	0.94253	ATG		PASS	0.498	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	24	4	24	---	---	---	---
SNX33	257364	broad.mit.edu	37	15	75942733	75942733	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:75942733G>T	ENST00000308527.5	+	1	2487	c.1290G>T	c.(1288-1290)atG>atT	p.M430I	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	430	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.M430I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CCTTCCAGATGGACCCCCCCT	0.567																																						uc002bau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1288-1290)ATG>ATT		sorting nexin 33							121.0	108.0	113.0					15																	75942733		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942733G>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1290G>T	15.37:g.75942733G>T	ENSP00000311427:p.Met430Ile					IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_Intron	p.M430I	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	1386	+			430			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1290G>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525850	0.44969	.	.	ENSG00000173548	ENST00000308527	T	0.28454	1.61	5.48	4.53	0.55603	Sorting nexin protein, WASP-binding domain (1);	0.244586	0.41938	D	0.000793	T	0.17152	0.0412	N	0.11927	0.2	0.40659	D	0.982116	B	0.17268	0.021	B	0.22386	0.039	T	0.08411	-1.0723	10	0.25751	T	0.34	-6.9025	10.5026	0.44815	0.0:0.1439:0.7069:0.1492	.	430	Q8WV41	SNX33_HUMAN	I	430	ENSP00000311427:M430I	ENSP00000311427:M430I	M	+	3	0	SNX33	73729788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.897000	0.56273	2.586000	0.87340	0.561000	0.74099	ATG		PASS	0.567	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		28	65	28	65	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78921980	78921980	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:78921980T>A	ENST00000261751.3	-	5	778	c.667A>T	c.(667-669)Act>Tct	p.T223S	CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	223					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.T223S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AAGTCGTAAGTCACGTCCACG	0.552																																						uc002bed.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)ACT>TCT		cholinergic receptor, nicotinic, beta 4							374.0	286.0	316.0					15																	78921980		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921980T>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.667A>T	15.37:g.78921980T>A	ENSP00000261751:p.Thr223Ser					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.T41S	p.T223S	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	779	-			223			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.667A>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044963	0.75846	.	.	ENSG00000117971	ENST00000261751	T	0.79749	-1.3	5.05	3.88	0.44766	Neurotransmitter-gated ion-channel ligand-binding (3);	0.054797	0.64402	N	0.000001	D	0.86083	0.5848	M	0.78344	2.41	0.80722	D	1	P	0.40066	0.701	P	0.52481	0.7	D	0.85884	0.1424	10	0.87932	D	0	.	10.8532	0.46782	0.1416:0.0:0.0:0.8584	.	223	P30926	ACHB4_HUMAN	S	223	ENSP00000261751:T223S	ENSP00000261751:T223S	T	-	1	0	CHRNB4	76709035	1.000000	0.71417	0.967000	0.41034	0.925000	0.55904	6.183000	0.72002	0.723000	0.32274	0.496000	0.49642	ACT		PASS	0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			15	65	15	65	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79298629	79298629	+	Silent	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr15:79298629G>C	ENST00000419573.3	-	15	2287	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L	RASGRF1_ENST00000558480.2_Silent_p.L658L|RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	671	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L671L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAAGGTGTTGAGGAAGTCGA	0.567																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2011-2013)CTC>CTG		Ras protein-specific guanine							180.0	145.0	157.0					15																	79298629		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79298629G>C	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2013C>G	15.37:g.79298629G>C						RASGRF1_uc002bep.2_Silent_p.L658L|RASGRF1_uc010blm.1_Silent_p.L580L|RASGRF1_uc002ber.3_Silent_p.L658L|RASGRF1_uc010unh.1_Silent_p.L66L	p.L671L	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			15	2388	-			671			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2013C>G	CCDS10309.1																																																																																				PASS	0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		10	62	10	62	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813737	2813737	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:2813737G>C	ENST00000301740.8	+	11	3757	c.3208G>C	c.(3208-3210)Gat>Cat	p.D1070H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1070	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.D1070H(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCACAGATCTGATACTTCAAG	0.463																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3208-3210)GAT>CAT		splicing coactivator subunit SRm300							110.0	112.0	111.0					16																	2813737		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813737G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3208G>C	16.37:g.2813737G>C	ENSP00000301740:p.Asp1070His					SRRM2_uc002crj.1_Missense_Mutation_p.D974H|SRRM2_uc002crl.1_Missense_Mutation_p.D1070H|SRRM2_uc010bsu.1_Missense_Mutation_p.D974H	p.D1070H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3757	+			1070			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3208G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749387	0.15778	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.93076	-3.16	5.78	5.78	0.91487	.	0.498928	0.20021	N	0.100910	D	0.89563	0.6751	N	0.22421	0.69	0.09310	N	1	B	0.32693	0.38	B	0.40329	0.326	T	0.83339	-0.0009	10	0.51188	T	0.08	0.0479	10.8616	0.46829	0.0851:0.0:0.9149:0.0	.	1070	Q9UQ35	SRRM2_HUMAN	H	1070;1070;322	ENSP00000301740:D1070H	ENSP00000301740:D1070H	D	+	1	0	SRRM2	2753738	0.060000	0.20803	0.027000	0.17364	0.233000	0.25261	2.668000	0.46816	2.738000	0.93877	0.655000	0.94253	GAT		PASS	0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			18	81	18	81	---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11933713	11933713	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:11933713T>C	ENST00000571133.1	-	8	1057	c.985A>G	c.(985-987)Aca>Gca	p.T329A	RSL1D1_ENST00000542106.1_Missense_Mutation_p.T109A	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	329					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T329A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCTTCACTGTAGTATCACCA	0.428																																						uc002dbp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(985-987)ACA>GCA		ribosomal L1 domain containing 1							228.0	200.0	210.0					16																	11933713		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933713T>C	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.985A>G	16.37:g.11933713T>C	ENSP00000460871:p.Thr329Ala					RSL1D1_uc010buv.1_Missense_Mutation_p.T328A|RSL1D1_uc010uyw.1_Missense_Mutation_p.T109A|RSL1D1_uc010buw.2_RNA	p.T329A	NM_015659	NP_056474	O76021	RL1D1_HUMAN			8	1058	-			329					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.985A>G	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135755	0.21123	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.40476	1.03	4.17	-3.24	0.05094	.	1.611530	0.03880	N	0.277024	T	0.20047	0.0482	N	0.16368	0.405	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.10636	-1.0621	10	0.08179	T	0.78	0.1217	2.2436	0.04025	0.189:0.4137:0.2451:0.1522	.	329;329	Q32Q62;O76021	.;RL1D1_HUMAN	A	328;329;109	ENSP00000347897:T328A	ENSP00000347897:T328A	T	-	1	0	RSL1D1	11841214	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.313000	0.08103	-0.417000	0.07461	-0.648000	0.03929	ACA		PASS	0.428	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		34	163	34	163	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15841519	15841519	+	Silent	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:15841519G>C	ENST00000300036.5	-	19	2428	c.2319C>G	c.(2317-2319)ggC>ggG	p.G773G	MYH11_ENST00000452625.2_Silent_p.G780G|MYH11_ENST00000576790.2_Silent_p.G773G|MYH11_ENST00000396324.3_Silent_p.G780G	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	773	Actin-binding. {ECO:0000250}.|Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.G780G(1)|p.G773G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGCCAGGACGCCAGTTCGGA	0.502			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2317-2319)GGC>GGG		smooth muscle myosin heavy chain 11 isoform							101.0	96.0	97.0					16																	15841519		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841519G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2319C>G	16.37:g.15841519G>C						MYH11_uc002ddv.2_Silent_p.G780G|MYH11_uc002ddw.2_Silent_p.G773G|MYH11_uc002ddx.2_Silent_p.G780G|MYH11_uc010bvg.2_Silent_p.G605G	p.G773G	NM_002474	NP_002465	P35749	MYH11_HUMAN			19	2426	-			773			Actin-binding (By similarity).|Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.2319C>G	CCDS10565.1																																																																																				PASS	0.502	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		15	57	15	57	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24582460	24582460	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:24582460A>G	ENST00000319715.4	+	18	4505	c.4073A>G	c.(4072-4074)aAt>aGt	p.N1358S	RBBP6_ENST00000348022.2_Missense_Mutation_p.N1324S|RBBP6_ENST00000381039.3_Missense_Mutation_p.N518S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1358					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1358S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGCCATCAAATATAGTCAAG	0.358																																						uc002dmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4072-4074)AAT>AGT		retinoblastoma-binding protein 6 isoform 1							42.0	43.0	43.0					16																	24582460		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582460A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4073A>G	16.37:g.24582460A>G	ENSP00000317872:p.Asn1358Ser					RBBP6_uc002dmi.2_Missense_Mutation_p.N1324S|RBBP6_uc010bxr.2_Missense_Mutation_p.N518S|RBBP6_uc002dmk.2_Missense_Mutation_p.N1191S	p.N1358S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5113	+			1358					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4073A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	2.546	-0.305083	0.05495	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.18016	2.24;2.51;2.52	5.6	3.19	0.36642	.	0.380755	0.26231	N	0.025578	T	0.06735	0.0172	N	0.11560	0.145	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.18561	0.022;0.022;0.01	T	0.39881	-0.9592	10	0.10377	T	0.69	-8.8391	3.7472	0.08552	0.4962:0.3176:0.0699:0.1164	.	518;1324;1358	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	S	518;1358;1324	ENSP00000370427:N518S;ENSP00000317872:N1358S;ENSP00000316291:N1324S	ENSP00000317872:N1358S	N	+	2	0	RBBP6	24489961	0.138000	0.22547	0.004000	0.12327	0.854000	0.48673	0.857000	0.27831	0.395000	0.25257	0.460000	0.39030	AAT		PASS	0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		16	33	16	33	---	---	---	---
NSMCE1	197370	broad.mit.edu	37	16	27238086	27238086	+	Silent	SNP	G	G	A	rs375663140		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:27238086G>A	ENST00000361439.4	-	6	654	c.555C>T	c.(553-555)ccC>ccT	p.P185P	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	185					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P185P(1)		endometrium(2)|large_intestine(2)|lung(3)	7						TCACCGCGTCGGGGTACGTCT	0.647																																						uc002doi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(553-555)CCC>CCT		non-SMC element 1 homolog		G		1,4151		0,1,2075	120.0	129.0	126.0		555	-10.8	0.0	16		126	0,8394		0,0,4197	no	coding-synonymous	NSMCE1	NM_145080.3		0,1,6272	AA,AG,GG		0.0,0.0241,0.0080		185/267	27238086	1,12545	2076	4197	6273	SO:0001819	synonymous_variant	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27238086G>A	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.555C>T	16.37:g.27238086G>A						NSMCE1_uc002doj.1_RNA	p.P185P	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			6	653	-			185					D3DWF6|Q9P045|Q9P049	Silent	SNP	ENST00000361439.4	37	c.555C>T	CCDS10628.2																																																																																				PASS	0.647	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		13	67	13	67	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998067	29998067	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:29998067G>T	ENST00000308893.4	+	16	3517	c.2474G>T	c.(2473-2475)aGt>aTt	p.S825I	TAOK2_ENST00000416441.2_Missense_Mutation_p.S652I|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	825	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.S825I(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGAGCCCCTAGTCCCAGTCCA	0.562																																						uc002dva.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2473-2475)AGT>ATT		TAO kinase 2 isoform 2							94.0	106.0	102.0					16																	29998067		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998067G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2474G>T	16.37:g.29998067G>T	ENSP00000310094:p.Ser825Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.S832I|TAOK2_uc002dvd.1_Missense_Mutation_p.S652I	p.S825I	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3257	+			825			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2474G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023823	0.19433	.	.	ENSG00000149930	ENST00000308893	T	0.71698	-0.59	5.1	1.85	0.25348	.	0.536026	0.19193	N	0.120394	T	0.44644	0.1303	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.22941	-1.0202	9	.	.	.	.	8.2082	0.31467	0.0:0.1834:0.5582:0.2584	.	1016;652;825	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	I	825	ENSP00000310094:S825I	.	S	+	2	0	TAOK2	29905568	.	.	0.999000	0.59377	0.852000	0.48524	.	.	0.528000	0.28580	0.563000	0.77884	AGT		PASS	0.562	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		11	55	11	55	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30006746	30006746	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:30006746G>C	ENST00000279392.3	-	2	934	c.104C>G	c.(103-105)gCt>gGt	p.A35G	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.A35G|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	35					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.A35G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCCCGAGTGAGCTAAGTACCT	0.662																																						uc002dve.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(103-105)GCT>GGT		HIRA interacting protein 3							38.0	42.0	40.0					16																	30006746		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006746G>C	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.104C>G	16.37:g.30006746G>C	ENSP00000279392:p.Ala35Gly					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.A35G	p.A35G	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			2	565	-			35					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.104C>G	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578581	0.65878	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.38560	1.13	5.45	3.4	0.38934	.	0.332924	0.26820	N	0.022338	T	0.53578	0.1805	M	0.61703	1.905	0.80722	D	1	P;D	0.71674	0.939;0.998	P;P	0.61940	0.596;0.896	T	0.56032	-0.8046	10	0.72032	D	0.01	-1.7121	8.0042	0.30315	0.0864:0.0:0.7553:0.1583	.	35;35	B2R6A9;Q9BW71	.;HIRP3_HUMAN	G	35	ENSP00000279392:A35G	ENSP00000279392:A35G	A	-	2	0	HIRIP3	29914247	1.000000	0.71417	0.873000	0.34254	0.142000	0.21351	2.870000	0.48451	1.507000	0.48752	0.650000	0.86243	GCT		PASS	0.662	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		12	36	12	36	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30970167	30970167	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:30970167G>A	ENST00000262519.8	+	2	801	c.115G>A	c.(115-117)Gtg>Atg	p.V39M		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	39					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V39M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCTCAGAAGGTGTACCGCTA	0.607																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(115-117)GTG>ATG		SET domain containing 1A							106.0	99.0	101.0					16																	30970167		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970167G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.115G>A	16.37:g.30970167G>A	ENSP00000262519:p.Val39Met					SETD1A_uc002eae.1_Missense_Mutation_p.V39M	p.V39M	NM_014712	NP_055527	O15047	SET1A_HUMAN			2	801	+			39					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.115G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035723	0.54896	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.94897	-3.55	5.2	5.2	0.72013	.	0.071589	0.56097	D	0.000031	D	0.95124	0.8420	L	0.52573	1.65	0.38873	D	0.956749	D	0.64830	0.994	P	0.60886	0.88	D	0.95467	0.8548	10	0.62326	D	0.03	.	11.7468	0.51825	0.0851:0.0:0.9149:0.0	.	39	O15047	SET1A_HUMAN	M	39	ENSP00000262519:V39M	ENSP00000262519:V39M	V	+	1	0	SETD1A	30877668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.730000	0.38125	2.426000	0.82243	0.655000	0.94253	GTG		PASS	0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	85	8	85	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56902279	56902279	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:56902279G>T	ENST00000563236.1	+	3	525	c.500G>T	c.(499-501)gGc>gTc	p.G167V	SLC12A3_ENST00000262502.5_Missense_Mutation_p.G166V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G166V|SLC12A3_ENST00000438926.2_Missense_Mutation_p.G167V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	167					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.G167V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCAGGCAGGCATCGGTGAG	0.607																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(499-501)GGC>GTC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						51.0	36.0	41.0					16																	56902279		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56902279G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.500G>T	16.37:g.56902279G>T	ENSP00000456149:p.Gly167Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.G167V|SLC12A3_uc010ccn.2_Missense_Mutation_p.G166V	p.G167V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			3	529	+			167			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.500G>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807842	0.90623	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.4	5.4	0.78164	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	H	0.97587	4.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93625	0.6951	9	0.87932	D	0	.	19.1934	0.93677	0.0:0.0:1.0:0.0	.	166;167;167	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	166;167	.	ENSP00000262502:G167V	G	+	2	0	SLC12A3	55459780	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.751000	0.98889	2.536000	0.85505	0.561000	0.74099	GGC		PASS	0.607	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			5	5	5	5	---	---	---	---
KIAA0513	9764	broad.mit.edu	37	16	85100812	85100812	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr16:85100812T>G	ENST00000566428.1	+	2	766	c.135T>G	c.(133-135)agT>agG	p.S45R	KIAA0513_ENST00000258180.3_Missense_Mutation_p.S45R|KIAA0513_ENST00000538274.1_Missense_Mutation_p.S45R|KIAA0513_ENST00000567328.1_Missense_Mutation_p.S45R			O60268	K0513_HUMAN	KIAA0513	45						cytoplasm (GO:0005737)		p.S45R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CATCAGAGAGTGAGACCACTG	0.642																																						uc002fiu.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(133-135)AGT>AGG		hypothetical protein LOC9764							69.0	55.0	60.0					16																	85100812		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100812T>G	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.135T>G	16.37:g.85100812T>G	ENSP00000457408:p.Ser45Arg					KIAA0513_uc002fis.3_Missense_Mutation_p.S45R|KIAA0513_uc010voj.1_Missense_Mutation_p.S45R|KIAA0513_uc002fit.2_Missense_Mutation_p.S45R	p.S45R	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	355	+			45					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.135T>G	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459073	0.63401	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37411	1.2;1.2	4.54	-5.76	0.02376	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.67953	2.075	0.49687	D	0.999814	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.59873	-0.7372	10	0.87932	D	0	-17.4074	15.7951	0.78404	0.0:0.6687:0.0:0.3313	.	45;45	B4DSS5;O60268	.;K0513_HUMAN	R	45	ENSP00000446439:S45R;ENSP00000258180:S45R	ENSP00000258180:S45R	S	+	3	2	KIAA0513	83658313	0.001000	0.12720	0.949000	0.38748	0.620000	0.37586	-1.524000	0.02233	-1.203000	0.02652	-0.379000	0.06801	AGT		PASS	0.642	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		9	14	9	14	---	---	---	---
YWHAE	7531	broad.mit.edu	37	17	1265201	1265201	+	Silent	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:1265201A>G	ENST00000264335.8	-	3	633	c.366T>C	c.(364-366)taT>taC	p.Y122Y	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Silent_p.Y100Y	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	122					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.Y122Y(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCTACATTTTATAATAGAAAA	0.353			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.2				Dom	yes		17	17p13.3	7531		"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes		M					2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)	3						c.(364-366)TAT>TAC		tyrosine 3/tryptophan 5 -monooxygenase							25.0	24.0	24.0					17																	1265201		2201	4284	6485	SO:0001819	synonymous_variant	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1265201A>G	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.366T>C	17.37:g.1265201A>G						YWHAE_uc002fsk.2_Silent_p.Y100Y|YWHAE_uc010vqh.1_Intron|YWHAE_uc010vqi.1_Intron	p.Y122Y	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	3	518	-			122					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Silent	SNP	ENST00000264335.8	37	c.366T>C	CCDS11001.1																																																																																				PASS	0.353	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		9	23	9	23	---	---	---	---
DHX33	56919	broad.mit.edu	37	17	5357289	5357289	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:5357289C>G	ENST00000225296.3	-	7	1359	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	DHX33_ENST00000433302.3_Missense_Mutation_p.E163Q	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	387	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.E387Q(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTAACACCTCAAGACCACTG	0.532																																						uc002gca.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1159-1161)GAG>CAG		DEAH (Asp-Glu-Ala-His) box polypeptide 33							71.0	59.0	63.0					17																	5357289		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5357289C>G	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1159G>C	17.37:g.5357289C>G	ENSP00000225296:p.Glu387Gln					DHX33_uc002gbz.2_Missense_Mutation_p.E158Q|DHX33_uc002gcb.2_Missense_Mutation_p.E214Q|DHX33_uc010clf.2_Missense_Mutation_p.E163Q	p.E387Q	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			7	1161	-			387			Helicase C-terminal.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.1159G>C	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029389	0.93518	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.02606	4.23;4.23	5.65	5.65	0.86999	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	L	0.42744	1.35	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.65684	0.937;0.897	T	0.00308	-1.1829	10	0.87932	D	0	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	163;387	Q05BE5;Q9H6R0	.;DHX33_HUMAN	Q	387;163	ENSP00000225296:E387Q;ENSP00000413779:E163Q	ENSP00000225296:E387Q	E	-	1	0	DHX33	5298013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.004000	0.76317	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.532	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		6	23	6	23	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_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		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	51	14	51	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10318686	10318686	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:10318686G>T	ENST00000403437.2	-	8	758	c.664C>A	c.(664-666)Caa>Aaa	p.Q222K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	222	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q222E(1)|p.Q222K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGATGATTTGATCTTCCAGA	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			2	Substitution - Missense(2)		lung(2)	skin(6)|ovary(3)|breast(2)	11						c.(664-666)CAA>AAA		myosin, heavy chain 8, skeletal muscle,							122.0	121.0	121.0					17																	10318686		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318686G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.664C>A	17.37:g.10318686G>T	ENSP00000384330:p.Gln222Lys					uc002gml.1_Intron	p.Q222K	NM_002472	NP_002463	P13535	MYH8_HUMAN			8	759	-			222			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.664C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398836	0.83120	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86865	-2.18	4.53	4.53	0.55603	Myosin head, motor domain (2);	0.000000	0.39985	U	0.001202	D	0.91707	0.7378	M	0.75447	2.3	0.58432	D	0.999998	P	0.34934	0.476	P	0.49665	0.618	D	0.92635	0.6119	10	0.72032	D	0.01	.	17.4462	0.87579	0.0:0.0:1.0:0.0	.	222	P13535	MYH8_HUMAN	K	222	ENSP00000384330:Q222K	ENSP00000252173:Q222K	Q	-	1	0	MYH8	10259411	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.488000	0.97947	2.356000	0.79943	0.655000	0.94253	CAA		PASS	0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		17	66	17	66	---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27934886	27934886	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:27934886G>A	ENST00000394859.3	+	2	395	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	81						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.G81S(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GAATCGCAGCGGCTGGACAGG	0.692																																						uc002hei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GGC>AGC		ankyrin repeat domain 13B							21.0	26.0	24.0					17																	27934886		2189	4285	6474	SO:0001583	missense	124930							g.chr17:27934886G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.241G>A	17.37:g.27934886G>A	ENSP00000378328:p.Gly81Ser					ANKRD13B_uc002heh.2_5'UTR|ANKRD13B_uc002hej.2_RNA	p.G81S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			2	354	+			81			ANK 2.		Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.241G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	36	5.934008	0.97122	.	.	ENSG00000198720	ENST00000394859	T	0.79940	-1.32	5.8	5.8	0.92144	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.82193	2.58	0.80722	D	1	D	0.57571	0.98	P	0.50659	0.647	D	0.88625	0.3165	10	0.62326	D	0.03	-31.4716	19.6609	0.95871	0.0:0.0:1.0:0.0	.	81	Q86YJ7	AN13B_HUMAN	S	81	ENSP00000378328:G81S	ENSP00000378328:G81S	G	+	1	0	ANKRD13B	24959012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.759000	0.74934	2.739000	0.93911	0.561000	0.74099	GGC		PASS	0.692	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		7	29	7	29	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45368430	45368430	+	Silent	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:45368430T>C	ENST00000559488.1	+	9	1252	c.1236T>C	c.(1234-1236)tgT>tgC	p.C412C	ITGB3_ENST00000560629.1_Missense_Mutation_p.Y401H|ITGB3_ENST00000435993.2_Silent_p.C365C|ITGB3_ENST00000571680.1_Silent_p.C412C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	412					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.C365C(1)|p.C412C(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TCAAGTCTTGTATGGGACTCA	0.537																																						uc002ilj.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(1234-1236)TGT>TGC		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						110.0	94.0	99.0					17																	45368430		2203	4300	6503	SO:0001819	synonymous_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368430T>C		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1236T>C	17.37:g.45368430T>C						ITGB3_uc002ili.1_Silent_p.C412C|ITGB3_uc010wkr.1_RNA	p.C412C	NM_000212	NP_000203	P05106	ITB3_HUMAN			9	1256	+			412			Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	c.1236T>C	CCDS11511.1																																																																																				PASS	0.537	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		11	81	11	81	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901477	51901477	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:51901477G>A	ENST00000268919.4	+	1	1239	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	361	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G361G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATTTATGGGGGCAAGGTGT	0.463																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(1081-1083)GGG>GGA		kinesin family member 2B							102.0	103.0	103.0					17																	51901477		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901477G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1083G>A	17.37:g.51901477G>A						uc010wna.1_RNA	p.G361G	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1239	+			361			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1083G>A	CCDS32685.1																																																																																				PASS	0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		9	72	9	72	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58262956	58262956	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:58262956G>C	ENST00000300896.4	-	30	3893	c.3699C>G	c.(3697-3699)atC>atG	p.I1233M	USP32_ENST00000592339.1_Missense_Mutation_p.I903M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1233	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I1233M(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTCCAGGTTGATGGGCTCGG	0.542																																						uc002iyo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(3697-3699)ATC>ATG		ubiquitin specific protease 32							71.0	67.0	69.0					17																	58262956		2203	4298	6501	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58262956G>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3699C>G	17.37:g.58262956G>C	ENSP00000300896:p.Ile1233Met					USP32_uc002iyn.1_Missense_Mutation_p.I903M	p.I1233M	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		30	3985	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1233					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3699C>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407526	0.83340	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.48958	-0.8988	10	0.72032	D	0.01	.	14.4494	0.67374	0.0:0.0:0.8528:0.1472	.	1233	Q8NFA0	UBP32_HUMAN	M	1233	ENSP00000300896:I1233M	ENSP00000300896:I1233M	I	-	3	3	USP32	55617738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.588000	0.74076	2.637000	0.89404	0.650000	0.86243	ATC		PASS	0.542	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		14	42	14	42	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72218788	72218788	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr17:72218788C>T	ENST00000269346.4	+	2	368	c.294C>T	c.(292-294)ctC>ctT	p.L98L	TTYH2_ENST00000529107.1_Silent_p.L77L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	98						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L98L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGCCGGGCTCATCTGCTGGT	0.632																																						uc002jkc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(292-294)CTC>CTT		tweety 2 isoform 1							54.0	45.0	48.0					17																	72218788		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72218788C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.294C>T	17.37:g.72218788C>T						TTYH2_uc010wqw.1_Silent_p.L77L	p.L98L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			2	325	+			98			Helical; Name=2; (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.294C>T	CCDS32717.1																																																																																				PASS	0.632	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			9	29	9	29	---	---	---	---
MEX3C	51320	broad.mit.edu	37	18	48702952	48702952	+	5'Flank	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:48702952A>G	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G583G(1)|p.G388G(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AACTATTGGTACCATTAGAAA	0.463																																						uc002lfc.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1747-1749)GGT>GGC		ring finger and KH domain containing 2							128.0	120.0	123.0					18																	48702952		2203	4300	6503	SO:0001631	upstream_gene_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48702952A>G	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48702952A>G	Exception_encountered						p.G583G	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	1749	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	583					A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	37	c.1749T>C																																																																																					PASS	0.463	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		7	55	7	55	---	---	---	---
DCC	1630	broad.mit.edu	37	18	49867237	49867237	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:49867237T>G	ENST00000442544.2	+	1	696	c.80T>G	c.(79-81)cTt>cGt	p.L27R	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	27	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.L27R(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCGCGCATCTTCAAGTAACC	0.493																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(79-81)CTT>CGT		netrin receptor DCC precursor							189.0	168.0	175.0					18																	49867237		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:49867237T>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.80T>G	18.37:g.49867237T>G	ENSP00000389140:p.Leu27Arg						p.L27R	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	667	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	27			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.80T>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444703	0.43429	.	.	ENSG00000187323	ENST00000442544	T	0.52754	0.65	5.73	5.73	0.89815	Immunoglobulin-like (1);	0.167338	0.28895	N	0.013797	T	0.35098	0.0920	L	0.27053	0.805	0.80722	D	1	B	0.27971	0.196	B	0.21708	0.036	T	0.12528	-1.0544	10	0.26408	T	0.33	.	14.9989	0.71455	0.0:0.0:0.0:1.0	.	27	P43146	DCC_HUMAN	R	27	ENSP00000389140:L27R	ENSP00000389140:L27R	L	+	2	0	DCC	48121235	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.271000	0.51608	2.187000	0.69744	0.459000	0.35465	CTT		PASS	0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		18	77	18	77	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50985708	50985708	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:50985708A>G	ENST00000442544.2	+	24	4115	c.3499A>G	c.(3499-3501)Aag>Gag	p.K1167E	DCC_ENST00000581580.1_Missense_Mutation_p.K802E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1167					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.K1167E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAATATTGAAAAGCCATCTGG	0.532																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3499-3501)AAG>GAG		netrin receptor DCC precursor							111.0	112.0	112.0					18																	50985708		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50985708A>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3499A>G	18.37:g.50985708A>G	ENSP00000389140:p.Lys1167Glu					DCC_uc010dpf.1_Missense_Mutation_p.K802E	p.K1167E	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	24	4086	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1167			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3499A>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318748	0.41096	.	.	ENSG00000187323	ENST00000442544	T	0.66815	-0.23	5.93	5.93	0.95920	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.68593	2.085	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	T	0.80906	-0.1173	10	0.52906	T	0.07	-10.3546	15.3769	0.74615	1.0:0.0:0.0:0.0	.	1167	P43146	DCC_HUMAN	E	1167	ENSP00000389140:K1167E	ENSP00000389140:K1167E	K	+	1	0	DCC	49239706	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.818000	0.91991	2.281000	0.76405	0.533000	0.62120	AAG		PASS	0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		25	72	25	72	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56247322	56247322	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:56247322C>A	ENST00000361673.3	-	4	899	c.686G>T	c.(685-687)aGa>aTa	p.R229I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	229						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R229I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTGGCAACATCTGTCTTGTTT	0.413																																						uc002lhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(685-687)AGA>ATA		heart alpha-kinase							163.0	164.0	164.0					18																	56247322		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247322C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.686G>T	18.37:g.56247322C>A	ENSP00000354991:p.Arg229Ile						p.R229I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	900	-			229					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.686G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623483	0.28889	.	.	ENSG00000198796	ENST00000361673	T	0.43294	0.95	5.53	-10.5	0.00291	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	9	0.52906	T	0.07	0.6677	2.9265	0.05786	0.116:0.3324:0.1308:0.4208	.	229	Q86TB3	ALPK2_HUMAN	I	229	ENSP00000354991:R229I	ENSP00000354991:R229I	R	-	2	0	ALPK2	54398302	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.341000	0.02647	-1.832000	0.01196	-2.737000	0.00128	AGA		PASS	0.413	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		49	158	49	158	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64178906	64178906	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:64178906C>G	ENST00000262150.2	-	10	1767	c.1475G>C	c.(1474-1476)aGt>aCt	p.S492T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	601	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S492T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATCCACTGCACTGATAGTCTG	0.313																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1474-1476)AGT>ACT		cadherin 19, type 2 preproprotein							82.0	83.0	83.0					18																	64178906		2203	4298	6501	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178906C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1475G>C	18.37:g.64178906C>G	ENSP00000262150:p.Ser492Thr					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.S492T	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1613	-		Esophageal squamous(42;0.0132)	492			Cadherin 5.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1475G>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329310	0.24167	.	.	ENSG00000071991	ENST00000262150	T	0.47177	0.85	5.03	5.03	0.67393	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.64404	1.975	0.80722	D	1	P	0.42518	0.782	P	0.51999	0.687	T	0.54761	-0.8245	10	0.40728	T	0.16	.	14.1773	0.65549	0.0:0.85:0.1499:0.0	.	492	Q9H159	CAD19_HUMAN	T	492	ENSP00000262150:S492T	ENSP00000262150:S492T	S	-	2	0	CDH19	62329886	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	1.937000	0.40193	2.774000	0.95407	0.585000	0.79938	AGT		PASS	0.313	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		14	95	14	95	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74980688	74980688	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr18:74980688A>T	ENST00000299727.3	+	3	880	c.880A>T	c.(880-882)Agc>Tgc	p.S294C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.S294C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTGGCGTACAGCAATTCCTC	0.488																																						uc002lms.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(880-882)AGC>TGC		galanin receptor 1							83.0	82.0	83.0					18																	74980688		2203	4300	6503	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980688A>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.880A>T	18.37:g.74980688A>T	ENSP00000299727:p.Ser294Cys						p.S294C	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1377	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	294			Cytoplasmic (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.880A>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093659	0.76870	.	.	ENSG00000166573	ENST00000299727	T	0.38240	1.15	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.53617	1.68	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.57946	-0.7723	10	0.87932	D	0	.	14.1123	0.65129	1.0:0.0:0.0:0.0	.	294	P47211	GALR1_HUMAN	C	294	ENSP00000299727:S294C	ENSP00000299727:S294C	S	+	1	0	GALR1	73109676	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.247000	0.78257	1.825000	0.53177	0.460000	0.39030	AGC		PASS	0.488	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			22	75	22	75	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5778655	5778655	+	Missense_Mutation	SNP	C	C	A	rs17852929		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:5778655C>A	ENST00000381624.3	+	22	2426	c.2365C>A	c.(2365-2367)Cgc>Agc	p.R789S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	789					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.R789S(1)									GGGACGCCACCGCACTCCTCA	0.582																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2365-2367)CGC>AGC		transmembrane protein 146 precursor							41.0	48.0	46.0					19																	5778655		2105	4222	6327	SO:0001583	missense	257062					integral to membrane		g.chr19:5778655C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2365C>A	19.37:g.5778655C>A	ENSP00000371037:p.Arg789Ser						p.R789S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			22	2426	+			789			Cytoplasmic (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2365C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	4.486	0.090031	0.08632	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.25085	1.82	1.35	0.26	0.15588	.	.	.	.	.	T	0.14356	0.0347	N	0.22421	0.69	0.09310	N	1	B	0.21688	0.059	B	0.13407	0.009	T	0.25745	-1.0123	9	0.87932	D	0	.	3.5837	0.07963	0.0:0.7308:0.0:0.2692	.	789	Q86XM0	TM146_HUMAN	S	789;458	ENSP00000371037:R789S	ENSP00000371026:R458S	R	+	1	0	TMEM146	5729655	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.710000	0.05024	0.120000	0.18254	0.555000	0.69702	CGC		PASS	0.582	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		16	36	16	36	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8130934	8130934	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:8130934G>A	ENST00000600128.1	-	64	8713	c.8299C>T	c.(8299-8301)Cgg>Tgg	p.R2767W	FBN3_ENST00000270509.2_Missense_Mutation_p.R2767W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2767W			Q75N90	FBN3_HUMAN	fibrillin 3	2767						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2767W(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCCGGCCGCCTCCGCCCC	0.682																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8299-8301)CGG>TGG		fibrillin 3 precursor							48.0	51.0	50.0					19																	8130934		2202	4298	6500	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130934G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8299C>T	19.37:g.8130934G>A	ENSP00000470498:p.Arg2767Trp					FBN3_uc002mje.2_Missense_Mutation_p.R563W	p.R2767W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8320	-			2767					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8299C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015520	0.35511	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87491	-2.26	4.75	2.57	0.30868	.	0.522305	0.18787	U	0.131175	T	0.81513	0.4838	L	0.44542	1.39	0.18873	N	0.999987	D;D	0.65815	0.991;0.995	B;B	0.44315	0.446;0.446	T	0.72833	-0.4173	10	0.66056	D	0.02	.	6.6343	0.22874	0.0:0.0859:0.183:0.7311	.	2767;830	Q75N90;Q6ZNB8	FBN3_HUMAN;.	W	2767;830	ENSP00000270509:R2767W	ENSP00000270509:R2767W	R	-	1	2	FBN3	8036934	0.014000	0.17966	0.022000	0.16811	0.011000	0.07611	0.299000	0.19138	0.253000	0.21552	-0.274000	0.10170	CGG		PASS	0.682	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	80	5	80	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8203327	8203327	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:8203327C>T	ENST00000600128.1	-	9	1401	c.987G>A	c.(985-987)ccG>ccA	p.P329P	FBN3_ENST00000270509.2_Silent_p.P329P|FBN3_ENST00000601739.1_Silent_p.P329P			Q75N90	FBN3_HUMAN	fibrillin 3	329	TB 2.		P -> L (in dbSNP:rs7246376).			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P329P(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCAGGGACCGGGCCAGCTG	0.682																																						uc002mjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(985-987)CCG>CCA		fibrillin 3 precursor							28.0	31.0	30.0					19																	8203327		2203	4298	6501	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203327C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.987G>A	19.37:g.8203327C>T							p.P329P	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			8	1008	-			329			TB 2.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.987G>A	CCDS12196.1																																																																																				PASS	0.682	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	24	4	24	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074309	9074309	+	Missense_Mutation	SNP	C	C	A	rs373857300		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:9074309C>A	ENST00000397910.4	-	3	13340	c.13137G>T	c.(13135-13137)atG>atT	p.M4379I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4381	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M4379I(2)|p.M12I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGATTCTGTCATTATCAGAG	0.468																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13135-13137)ATG>ATT		mucin 16		C	ILE/MET	1,4063		0,1,2031	130.0	127.0	128.0		13137	0.5	0.0	19		128	0,8324		0,0,4162	no	missense	MUC16	NM_024690.2	10	0,1,6193	AA,AC,CC		0.0,0.0246,0.0081	benign	4379/14508	9074309	1,12387	2032	4162	6194	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074309C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13137G>T	19.37:g.9074309C>A	ENSP00000381008:p.Met4379Ile						p.M4379I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13341	-			4381			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13137G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.007	-0.204666	0.06180	2.46E-4	0.0	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.65	0.504	0.16946	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	.	.	.	B	0.24426	0.103	B	0.14023	0.01	T	0.32640	-0.9899	8	0.87932	D	0	.	5.6571	0.17648	0.0:0.6522:0.3478:0.0	.	4379	B5ME49	.	I	4379	ENSP00000381008:M4379I	ENSP00000381008:M4379I	M	-	3	0	MUC16	8935309	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.112000	0.10791	0.215000	0.20761	0.305000	0.20034	ATG		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	79	4	79	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476301	17476301	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:17476301C>T	ENST00000252590.4	-	3	1034	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	325					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.V325M(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTTCTCCACCTTCTGTTTC	0.657																																						uc002ngk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)GTG>ATG		plasmalemma vesicle associated protein							50.0	43.0	45.0					19																	17476301		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476301C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.973G>A	19.37:g.17476301C>T	ENSP00000252590:p.Val325Met						p.V325M	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1023	-			325			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.973G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688194	0.14973	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.42	-0.608	0.11611	.	1.514080	0.03316	N	0.191136	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.22880	0.042	T	0.14980	-1.0453	9	0.33141	T	0.24	-15.0112	3.3922	0.07293	0.3067:0.4408:0.0:0.2525	.	325	Q9BX97	PLVAP_HUMAN	M	325	.	ENSP00000252590:V325M	V	-	1	0	PLVAP	17337301	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.053000	0.11846	0.001000	0.14605	-0.355000	0.07637	GTG		PASS	0.657	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		9	45	9	45	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17918984	17918984	+	Missense_Mutation	SNP	G	G	A	rs577972524	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:17918984G>A	ENST00000318683.6	+	2	515	c.368G>A	c.(367-369)cGc>cAc	p.R123H	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R123H	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	123					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.R123H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TATGTGCGCCGCGAGCTGCTG	0.682																																						uc002nhk.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(367-369)CGC>CAC		UDP-GlcNAc:betaGal							20.0	21.0	20.0					19																	17918984		2200	4296	6496	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918984G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.368G>A	19.37:g.17918984G>A	ENSP00000321874:p.Arg123His					B3GNT3_uc002nhl.1_Missense_Mutation_p.R123H|B3GNT3_uc010ebd.1_Missense_Mutation_p.R123H|B3GNT3_uc010ebe.1_Missense_Mutation_p.R123H	p.R123H	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	453	+			123			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.368G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253038	0.59212	.	.	ENSG00000179913	ENST00000318683	T	0.76316	-1.01	3.6	3.6	0.41247	.	0.000000	0.85682	U	0.000000	D	0.91540	0.7328	H	0.97564	4.03	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.93799	0.7099	10	0.87932	D	0	.	12.7372	0.57232	0.0:0.0:1.0:0.0	.	123	Q9Y2A9	B3GN3_HUMAN	H	123	ENSP00000321874:R123H	ENSP00000321874:R123H	R	+	2	0	B3GNT3	17779984	1.000000	0.71417	0.509000	0.27700	0.064000	0.16182	9.470000	0.97683	1.557000	0.49525	0.297000	0.19635	CGC		PASS	0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		6	20	6	20	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19746283	19746283	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:19746283C>A	ENST00000203556.4	-	15	1638	c.1501G>T	c.(1501-1503)Ggc>Tgc	p.G501C	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.G475C|GMIP_ENST00000445806.2_Missense_Mutation_p.G472C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	501					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.G501C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTGGCTGGGCCCCGCAGTCGC	0.647																																						uc002nnd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1501-1503)GGC>TGC		GEM interacting protein							70.0	66.0	67.0					19																	19746283		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746283C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1501G>T	19.37:g.19746283C>A	ENSP00000203556:p.Gly501Cys					GMIP_uc010xrb.1_Missense_Mutation_p.G475C|GMIP_uc010xrc.1_Missense_Mutation_p.G472C	p.G501C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			15	1618	-			501			Phorbol-ester/DAG-type.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1501G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212881	0.58452	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.84800	-1.9;-1.9	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.45361	D	0.000364	D	0.88470	0.6445	L	0.36672	1.1	0.37626	D	0.921507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.98;0.968;0.985	D	0.90967	0.4817	10	0.66056	D	0.02	-25.1349	15.5963	0.76583	0.0:1.0:0.0:0.0	.	472;475;501	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	C	501;472	ENSP00000203556:G501C;ENSP00000397075:G472C	ENSP00000203556:G501C	G	-	1	0	GMIP	19607283	0.406000	0.25344	1.000000	0.80357	0.956000	0.61745	2.286000	0.43496	2.267000	0.75376	0.561000	0.74099	GGC		PASS	0.647	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		10	40	10	40	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363818	22363818	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:22363818A>T	ENST00000397121.2	-	3	1018	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	234					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.F234Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGATCGATTAAAAGCTTTGCC	0.368																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)TTT>TAT		zinc finger protein 676							75.0	82.0	80.0					19																	22363818		2176	4287	6463	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363818A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.701T>A	19.37:g.22363818A>T	ENSP00000380310:p.Phe234Tyr						p.F234Y	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1019	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	234			C2H2-type 3.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.701T>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.396847	0.42512	.	.	ENSG00000196109	ENST00000397121	T	0.40756	1.02	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48768	0.1518	L	0.38531	1.155	0.24745	N	0.993012	D	0.76494	0.999	D	0.77557	0.99	T	0.32295	-0.9912	9	0.87932	D	0	.	6.592	0.22651	1.0:0.0:0.0:0.0	.	234	Q8N7Q3	ZN676_HUMAN	Y	234	ENSP00000380310:F234Y	ENSP00000380310:F234Y	F	-	2	0	ZNF676	22155658	0.988000	0.35896	0.002000	0.10522	0.002000	0.02628	4.520000	0.60524	0.166000	0.19597	0.164000	0.16699	TTT		PASS	0.368	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		20	118	20	118	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792469	44792469	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:44792469C>G	ENST00000291182.4	-	5	1221	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	373					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.K373N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATCTATAGGGCTTCTCTCCTG	0.448																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1117-1119)AAG>AAC		zinc finger protein 93 homolog							83.0	74.0	77.0					19																	44792469		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792469C>G	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1119G>C	19.37:g.44792469C>G	ENSP00000291182:p.Lys373Asn					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.K369N|ZNF235_uc010xwx.1_Missense_Mutation_p.K287N	p.K373N	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	1222	-		Prostate(69;0.0352)|all_neural(266;0.116)	373					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1119G>C	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	c	16.01	3.002283	0.54254	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.26067	1.76	3.9	-0.72	0.11195	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000728	T	0.46132	0.1377	M	0.83223	2.63	0.38622	D	0.951166	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.48293	-0.9048	10	0.72032	D	0.01	.	7.1216	0.25448	0.0:0.3806:0.0:0.6194	.	369;373	Q14590-2;Q14590	.;ZN235_HUMAN	N	373;373;295	ENSP00000291182:K373N	ENSP00000291182:K373N	K	-	3	2	ZNF235	49484309	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	-1.768000	0.01794	0.076000	0.16826	0.457000	0.33378	AAG		PASS	0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			13	48	13	48	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422517	47422517	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:47422517A>G	ENST00000404338.3	+	1	585	c.585A>G	c.(583-585)atA>atG	p.I195M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	195					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.I195M(2)									AAAAGCCCATAGTGGTGGTCC	0.433																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(583-585)ATA>ATG		glucocorticoid receptor DNA binding factor 1							93.0	88.0	89.0					19																	47422517		1886	4105	5991	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422517A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.585A>G	19.37:g.47422517A>G	ENSP00000385720:p.Ile195Met						p.I195M	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	585	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	195					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.585A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421569	0.25639	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	D	0.82526	-1.62	5.57	-7.2	0.01495	.	0.095984	0.64402	D	0.000001	T	0.73644	0.3613	L	0.46157	1.445	0.40910	D	0.984221	B	0.27229	0.172	B	0.33339	0.162	T	0.56080	-0.8038	10	0.66056	D	0.02	-23.2886	11.1251	0.48312	0.1881:0.6582:0.0614:0.0923	.	195	Q9NRY4-2	.	M	195	ENSP00000385720:I195M	ENSP00000324820:I195M	I	+	3	3	ARHGAP35	52114357	0.007000	0.16637	0.957000	0.39632	0.984000	0.73092	-1.135000	0.03225	-1.086000	0.03084	0.533000	0.62120	ATA		PASS	0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		15	41	15	41	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49813646	49813646	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:49813646G>A	ENST00000335875.4	-	3	778	c.537C>T	c.(535-537)gcC>gcT	p.A179A	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Silent_p.A179A	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	179					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A179A(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAATCCAGGGGGCAATGATCT	0.577																																						uc002pmz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|kidney(1)	4						c.(535-537)GCC>GCT		solute carrier family 6, member 16							69.0	69.0	69.0					19																	49813646		2080	4219	6299	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49813646G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.537C>T	19.37:g.49813646G>A						SLC6A16_uc002pna.2_Silent_p.A179A|hsa-mir-4324|MI0015854_5'Flank	p.A179A	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	3	771	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	179			Helical; Name=2; (Potential).		Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.537C>T	CCDS42590.1																																																																																				PASS	0.577	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		4	21	4	21	---	---	---	---
KLK2	3817	broad.mit.edu	37	19	51379830	51379830	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:51379830G>C	ENST00000325321.3	+	3	534	c.309G>C	c.(307-309)atG>atC	p.M103I	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_Start_Codon_SNP_p.M1I|KLK2_ENST00000358049.4_Missense_Mutation_p.M103I			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.M103I(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TCTACAATATGAGCCTTCTGA	0.552			T	ETV4	prostate																																	uc002ptv.2				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate		2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(307-309)ATG>ATC		kallikrein 2, prostatic isoform 1							68.0	59.0	62.0					19																	51379830		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379830G>C	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.309G>C	19.37:g.51379830G>C	ENSP00000313581:p.Met103Ile					KLK2_uc010eog.2_Missense_Mutation_p.M1I|KLK2_uc010yck.1_Missense_Mutation_p.M103I|KLK2_uc002ptu.2_Missense_Mutation_p.M103I|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.M86I|KLK2_uc010ycm.1_Missense_Mutation_p.M1I|KLK2_uc010eoh.2_Missense_Mutation_p.M1I	p.M103I	NM_005551	NP_005542	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	350	+		all_neural(266;0.026)	103			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.309G>C	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018298	0.35606	.	.	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	D;D;D	0.88431	-2.35;-2.35;-2.38	1.92	1.92	0.25849	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.323420	0.05635	N	0.582335	T	0.78117	0.4233	N	0.05487	-0.04	0.80722	D	1	B;B;B	0.19935	0.04;0.008;0.014	B;B;B	0.23419	0.046;0.005;0.015	T	0.67090	-0.5758	10	0.29301	T	0.29	.	7.3567	0.26723	0.0:0.0:1.0:0.0	.	86;103;103	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	I	103;103;1	ENSP00000313581:M103I;ENSP00000350748:M103I;ENSP00000375686:M1I	ENSP00000313581:M103I	M	+	3	0	KLK2	56071642	.	.	0.443000	0.26883	0.260000	0.26232	.	.	1.397000	0.46682	0.305000	0.20034	ATG		PASS	0.552	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		14	34	14	34	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51920564	51920564	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:51920564T>A	ENST00000339313.5	-	2	309	c.193A>T	c.(193-195)Act>Tct	p.T65S	CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T65S|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T65S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T65S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T65S|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T65S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T65S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T65S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T65S			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	65	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T65S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTTGTCTCAGTCACTGCTTTG	0.602																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(193-195)ACT>TCT		sialic acid binding Ig-like lectin 10 precursor							64.0	55.0	58.0					19																	51920564		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920564T>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.193A>T	19.37:g.51920564T>A	ENSP00000345243:p.Thr65Ser					SIGLEC10_uc002pwp.2_Missense_Mutation_p.T65S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T65S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T65S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T65S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T65S|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.T49S	p.T65S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	809	-		all_neural(266;0.0199)	65			Extracellular (Potential).|Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.193A>T	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.536	1.112224	0.20795	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.06	-3.58	0.04597	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.351580	0.04654	N	0.407581	T	0.16257	0.0391	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B	0.33583	0.242;0.418;0.046;0.343;0.235;0.027;0.026	B;B;B;B;B;B;B	0.39617	0.223;0.224;0.056;0.305;0.172;0.015;0.038	T	0.26121	-1.0112	10	0.13470	T	0.59	.	2.3597	0.04304	0.131:0.1791:0.4416:0.2483	.	65;65;65;65;65;65;65	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	S	65;65;65;65;65;65;65;65;65;32	ENSP00000342389:T65S;ENSP00000396742:T65S;ENSP00000395475:T65S;ENSP00000348646:T65S;ENSP00000408387:T65S;ENSP00000431444:T65S;ENSP00000389132:T65S;ENSP00000414324:T65S;ENSP00000345243:T65S;ENSP00000433838:T32S	ENSP00000345243:T65S	T	-	1	0	SIGLEC10	56612376	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.658000	0.00852	-0.361000	0.08125	-0.736000	0.03550	ACT		PASS	0.602	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		12	43	12	43	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51958760	51958760	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:51958760C>T	ENST00000321424.3	-	4	1029	c.963G>A	c.(961-963)agG>agA	p.R321R	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Silent_p.R228R|SIGLEC8_ENST00000430817.1_Silent_p.R212R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	321	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R321R(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTTCATCCCTCACGTGCA	0.642																																						uc002pwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(961-963)AGG>AGA		sialic acid binding Ig-like lectin 8 precursor							55.0	52.0	53.0					19																	51958760		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958760C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.963G>A	19.37:g.51958760C>T						SIGLEC8_uc010yda.1_Silent_p.R212R|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.R228R	p.R321R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1030	-		all_neural(266;0.0199)	321			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Silent	SNP	ENST00000321424.3	37	c.963G>A	CCDS33086.1																																																																																				PASS	0.642	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		9	44	9	44	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941413	52941413	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:52941413C>G	ENST00000332323.6	+	4	800	c.739C>G	c.(739-741)Cga>Gga	p.R247G	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R234G	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	247					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.R247G(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACAACATCAACGAATCCATAC	0.373																																						uc002pzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)CGA>GGA		zinc finger protein 534 isoform 2							62.0	56.0	57.0					19																	52941413		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941413C>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.739C>G	19.37:g.52941413C>G	ENSP00000327538:p.Arg247Gly					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.R234G	p.R247G	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	800	+			247			C2H2-type 2.		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.739C>G	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356302	0.11239	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.02421	4.3;4.3	1.81	-3.63	0.04529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	M	0.79011	2.435	0.09310	N	1	B;B	0.19073	0.009;0.033	B;B	0.14023	0.001;0.01	T	0.28618	-1.0038	9	0.66056	D	0.02	.	5.628	0.17492	0.2744:0.5788:0.1468:0.0	.	234;247	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	G	247;234;246	ENSP00000327538:R247G;ENSP00000391358:R234G	ENSP00000327538:R247G	R	+	1	2	ZNF534	57633225	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.431000	0.01982	-1.842000	0.00583	CGA		PASS	0.373	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		13	49	13	49	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612105	53612105	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:53612105C>A	ENST00000500065.4	-	4	1526	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I	ZNF415_ENST00000243643.4_Missense_Mutation_p.S398I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.S446I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.S168I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.S410I|ZNF415_ENST00000440291.1_Missense_Mutation_p.S385I|ZNF415_ENST00000448501.1_Missense_Mutation_p.S446I	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S398I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCTTGCAAGGCTTGAAGTCTG	0.418																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1336-1338)AGC>ATC		RecName: Full=Zinc finger protein 415;							61.0	60.0	60.0					19																	53612105		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612105C>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1193G>T	19.37:g.53612105C>A	ENSP00000439435:p.Ser398Ile					ZNF415_uc002qat.2_Missense_Mutation_p.S410I|ZNF415_uc002qaw.2_Missense_Mutation_p.S398I|ZNF415_uc010yds.1_Missense_Mutation_p.S398I|ZNF415_uc010ydt.1_Missense_Mutation_p.S398I|ZNF415_uc002qau.2_Missense_Mutation_p.S385I|ZNF415_uc002qav.2_Missense_Mutation_p.S410I|ZNF415_uc002qba.2_Missense_Mutation_p.S168I|ZNF415_uc002qay.2_Missense_Mutation_p.S385I|ZNF415_uc002qaz.2_Missense_Mutation_p.S446I	p.S446I	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1686	-			446			C2H2-type 7.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1337G>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390559	0.25118	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	2.77	-5.53	0.02552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19846	0.0477	L	0.35854	1.095	0.09310	N	1	B;D;B;B;B;D	0.61080	0.047;0.983;0.031;0.058;0.047;0.989	B;D;B;B;B;P	0.65684	0.013;0.937;0.049;0.015;0.024;0.888	T	0.05649	-1.0872	9	0.42905	T	0.14	.	2.4223	0.04451	0.1313:0.4199:0.1324:0.3164	.	398;446;446;398;385;410	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	I	398;398;446;410;446;385	ENSP00000243643:S398I;ENSP00000439435:S398I;ENSP00000396492:S446I;ENSP00000395055:S410I;ENSP00000388787:S446I;ENSP00000414601:S385I	ENSP00000243643:S398I	S	-	2	0	ZNF415	58303917	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.617000	0.00033	-1.491000	0.01840	0.484000	0.47621	AGC		PASS	0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		16	53	16	53	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086951	55086951	+	Missense_Mutation	SNP	G	G	T	rs563039559		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:55086951G>T	ENST00000251377.3	+	6	1017	c.884G>T	c.(883-885)tGc>tTc	p.C295F	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.C295F|LILRA2_ENST00000251376.3_Missense_Mutation_p.C295F|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.C283F|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	295	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.C295F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGTACAGATGCTACAGTGCA	0.667																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)TGC>TTC		leukocyte immunoglobulin-like receptor,							50.0	52.0	52.0					19																	55086951		2203	4299	6502	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086951G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.884G>T	19.37:g.55086951G>T	ENSP00000251377:p.Cys295Phe					LILRA2_uc010ern.2_Missense_Mutation_p.C295F|LILRA2_uc002qgf.2_Missense_Mutation_p.C295F|LILRA2_uc010yfe.1_Missense_Mutation_p.C295F|LILRA2_uc010yff.1_Missense_Mutation_p.C283F|LILRA2_uc010ero.2_Missense_Mutation_p.C283F|LILRA2_uc010yfg.1_Intron	p.C295F	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	973	+			295			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.884G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321037	0.41096	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	2.68	2.68	0.31781	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	D	0.84946	0.5585	H	0.99877	4.88	0.50171	D	0.999857	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.993;0.993;0.996;1.0	D	0.87410	0.2375	10	0.87932	D	0	.	8.9712	0.35908	0.0:0.0:1.0:0.0	.	295;283;295;295	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	F	295;295;295;295;283	ENSP00000388131:C295F;ENSP00000251377:C295F;ENSP00000375618:C295F;ENSP00000251376:C295F;ENSP00000375617:C283F	ENSP00000251376:C295F	C	+	2	0	LILRA2	59778763	0.007000	0.16637	0.293000	0.24932	0.099000	0.18886	0.486000	0.22340	1.504000	0.48704	0.393000	0.25936	TGC		PASS	0.667	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			26	49	26	49	---	---	---	---
RPL28	6158	broad.mit.edu	37	19	55899328	55899328	+	Missense_Mutation	SNP	G	G	T	rs34259396		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:55899328G>T	ENST00000344063.2	+	4	865	c.236G>T	c.(235-237)cGg>cTg	p.R79L	RPL28_ENST00000560055.1_Missense_Mutation_p.R79L|RPL28_ENST00000559463.1_Missense_Mutation_p.R79L|RPL28_ENST00000560583.1_Missense_Mutation_p.R79L|RPL28_ENST00000558815.1_Missense_Mutation_p.R79L|RPL28_ENST00000558131.1_Nonsense_Mutation_p.G73*|RPL28_ENST00000458349.2_Missense_Mutation_p.R79L			P46779	RL28_HUMAN	ribosomal protein L28	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R79L(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TCCTATGTGCGGACCACCATC	0.612																																						uc002qkv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)CGG>CTG		ribosomal protein L28 isoform 2							87.0	85.0	86.0					19																	55899328		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899328G>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.236G>T	19.37:g.55899328G>T	ENSP00000342787:p.Arg79Leu					RPL28_uc010yga.1_Missense_Mutation_p.R79L|RPL28_uc010ygb.1_Missense_Mutation_p.R79L|RPL28_uc002qkw.1_3'UTR	p.R79L	NM_000991	NP_000982	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	278	+	Breast(117;0.191)	Renal(1328;0.245)	79					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.236G>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101424	0.76983	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.46451	0.87;0.87	3.44	3.44	0.39384	.	0.209809	0.38005	N	0.001845	T	0.58680	0.2139	M	0.83483	2.645	0.32545	N	0.533118	P;P;P	0.52463	0.953;0.953;0.488	P;P;B	0.60345	0.704;0.873;0.332	T	0.69416	-0.5151	10	0.72032	D	0.01	.	7.3219	0.26531	0.129:0.0:0.871:0.0	.	79;79;79	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	L	79	ENSP00000342787:R79L;ENSP00000401450:R79L	ENSP00000342787:R79L	R	+	2	0	RPL28	60591140	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.627000	0.67784	1.864000	0.54056	0.462000	0.41574	CGG		PASS	0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		51	83	51	83	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57642610	57642610	+	Missense_Mutation	SNP	A	A	G	rs117302403	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr19:57642610A>G	ENST00000254181.4	+	4	3021	c.2567A>G	c.(2566-2568)tAc>tGc	p.Y856C	USP29_ENST00000598197.1_Missense_Mutation_p.Y856C|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	856	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Y856C(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCACATACAACGATCTA	0.448													A|||	3	0.000599042	0.0	0.0	5008	,	,		21057	0.0		0.003	False		,,,				2504	0.0					uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2566-2568)TAC>TGC		ubiquitin specific peptidase 29		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	76.0	71.0	73.0		2567	2.3	0.0	19	dbSNP_132	73	38,8562	25.1+/-72.6	0,38,4262	yes	missense	USP29	NM_020903.2	194	0,39,6464	GG,GA,AA		0.4419,0.0227,0.2999	probably-damaging	856/923	57642610	39,12967	2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642610A>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2567A>G	19.37:g.57642610A>G	ENSP00000254181:p.Tyr856Cys						p.Y856C	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2923	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	856						Missense_Mutation	SNP	ENST00000254181.4	37	c.2567A>G	CCDS33124.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	15.22	2.768667	0.49680	2.27E-4	0.004419	ENSG00000131864	ENST00000254181	T	0.74737	-0.87	2.32	2.32	0.28847	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.29348	U	0.012409	T	0.81293	0.4792	M	0.62723	1.935	0.37840	D	0.92902	D	0.89917	1.0	D	0.85130	0.997	T	0.83015	-0.0170	10	0.87932	D	0	-13.7522	8.5242	0.33296	1.0:0.0:0.0:0.0	.	856	Q9HBJ7	UBP29_HUMAN	C	856	ENSP00000254181:Y856C	ENSP00000254181:Y856C	Y	+	2	0	USP29	62334422	1.000000	0.71417	0.014000	0.15608	0.167000	0.22549	3.896000	0.56266	1.300000	0.44818	0.377000	0.23210	TAC		PASS	0.448	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			5	41	5	41	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161626	1161626	+	Missense_Mutation	SNP	C	C	T	rs375435487		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:1161626C>T	ENST00000381894.3	-	2	1308	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	213						integral component of membrane (GO:0016021)		p.G213S(1)									GAGCCCTTGCCGGGGACGAAG	0.637																																						uc010gaa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GGC>AGC		hypothetical protein LOC55321		C	SER/GLY	1,4405	4.2+/-10.8	0,1,2202	57.0	56.0	57.0		637	2.2	1.0	20		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	C20orf46	NM_018354.1	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	213/257	1161626	2,13004	2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161626C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.637G>A	20.37:g.1161626C>T	ENSP00000371318:p.Gly213Ser					C20orf46_uc002weq.1_Missense_Mutation_p.G213S	p.G213S	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	856	-			213					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.637G>A	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	3.027	-0.200402	0.06219	2.27E-4	1.16E-4	ENSG00000125895	ENST00000381894	T	0.35236	1.32	4.26	2.22	0.28083	.	0.351137	0.20720	N	0.086927	T	0.13457	0.0326	N	0.05383	-0.06	0.28219	N	0.926617	B	0.22346	0.068	B	0.15484	0.013	T	0.29027	-1.0025	10	0.02654	T	1	-14.0911	8.2746	0.31864	0.2474:0.6106:0.142:0.0	.	213	Q9NUR3	CT046_HUMAN	S	213	ENSP00000371318:G213S	ENSP00000371318:G213S	G	-	1	0	C20orf46	1109626	0.042000	0.20092	0.968000	0.41197	0.947000	0.59692	0.410000	0.21098	2.186000	0.69663	0.655000	0.94253	GGC		PASS	0.637	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		12	53	12	53	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3515969	3515969	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:3515969G>T	ENST00000262919.5	+	2	548	c.480G>T	c.(478-480)tgG>tgT	p.W160C	ATRN_ENST00000446916.2_Missense_Mutation_p.W160C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	160	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.W160C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AGTGCACGTGGCTCATTGAAG	0.333																																						uc002wim.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(478-480)TGG>TGT		attractin isoform 1							68.0	71.0	70.0					20																	3515969		2203	4299	6502	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3515969G>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.480G>T	20.37:g.3515969G>T	ENSP00000262919:p.Trp160Cys					ATRN_uc002wil.2_Missense_Mutation_p.W160C	p.W160C	NM_139321	NP_647537	O75882	ATRN_HUMAN			2	570	+			160			Extracellular (Potential).|CUB.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.480G>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964831	0.74131	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.73897	-0.79;-0.79	5.38	5.38	0.77491	EGF-like, laminin (1);CUB (5);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94985	0.8129	10	0.87932	D	0	-10.3749	18.0736	0.89421	0.0:0.0:1.0:0.0	.	160;160	O75882;O75882-2	ATRN_HUMAN;.	C	160;160;86	ENSP00000262919:W160C;ENSP00000416587:W160C	ENSP00000262919:W160C	W	+	3	0	ATRN	3463969	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.191000	0.94940	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.333	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		7	26	7	26	---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680300	4680300	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:4680300A>G	ENST00000379440.4	+	2	721	c.434A>G	c.(433-435)tAt>tGt	p.Y145C	PRNP_ENST00000430350.2_Missense_Mutation_p.Y145C	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.Y145C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GGCAGTGACTATGAGGACCGT	0.552																																						uc002wku.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(433-435)TAT>TGT		prion protein preproprotein	Tetracycline(DB00759)						109.0	82.0	91.0					20																	4680300		2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680300A>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.434A>G	20.37:g.4680300A>G	ENSP00000368752:p.Tyr145Cys					PRNP_uc002wkv.2_Missense_Mutation_p.Y145C|PRNP_uc002wkw.2_Missense_Mutation_p.Y145C|PRNP_uc002wkx.2_Missense_Mutation_p.Y145C|PRNP_uc002wkt.1_Missense_Mutation_p.Y115C|PRNP_uc002wky.2_Missense_Mutation_p.Y145C|PRNP_uc010gbe.1_Missense_Mutation_p.Y145C	p.Y145C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN			2	797	+			145			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.434A>G	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041946	0.55003	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.88818	-2.43;-2.43;-2.43;-1.49	5.3	2.91	0.33838	Prion/Doppel protein, beta-ribbon domain (3);	0.692940	0.14051	N	0.344737	D	0.91549	0.7331	M	0.72479	2.2	0.29887	N	0.825555	D;B;P	0.67145	0.996;0.094;0.666	D;B;B	0.67382	0.951;0.113;0.381	D	0.85144	0.0982	10	0.72032	D	0.01	0.3333	3.6015	0.08026	0.7014:0.0:0.1053:0.1932	.	145;145;177	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	C	145;145;145;84;145	ENSP00000368752:Y145C;ENSP00000399376:Y145C;ENSP00000411599:Y145C;ENSP00000415284:Y145C	ENSP00000368752:Y145C	Y	+	2	0	PRNP	4628300	0.954000	0.32549	0.999000	0.59377	0.998000	0.95712	2.859000	0.48364	0.873000	0.35799	0.533000	0.62120	TAT		PASS	0.552	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		7	27	7	27	---	---	---	---
TMX4	56255	broad.mit.edu	37	20	7963097	7963097	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:7963097T>A	ENST00000246024.2	-	8	1066	c.851A>T	c.(850-852)aAc>aTc	p.N284I		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	284	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.N284I(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						AGCAGCCAAGTTGtcctcctc	0.517																																						uc002wmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)AAC>ATC		thioredoxin-related transmembrane protein 4							170.0	132.0	145.0					20																	7963097		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963097T>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.851A>T	20.37:g.7963097T>A	ENSP00000246024:p.Asn284Ile						p.N284I	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			8	984	-			284			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.851A>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.057249	0.55325	.	.	ENSG00000125827	ENST00000246024	T	0.10763	2.84	5.84	1.05	0.20165	.	0.478231	0.21173	N	0.078955	T	0.07324	0.0185	N	0.22421	0.69	0.09310	N	1	P	0.41041	0.736	B	0.39465	0.3	T	0.21724	-1.0237	10	0.87932	D	0	-2.3722	8.1447	0.31104	0.0:0.2958:0.0:0.7042	.	284	Q9H1E5	TMX4_HUMAN	I	284	ENSP00000246024:N284I	ENSP00000246024:N284I	N	-	2	0	TMX4	7911097	0.000000	0.05858	0.082000	0.20525	0.426000	0.31534	-0.693000	0.05121	-0.070000	0.12908	0.455000	0.32223	AAC		PASS	0.517	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		16	64	16	64	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20232288	20232288	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:20232288G>A	ENST00000245957.5	+	20	2285	c.2209G>A	c.(2209-2211)Gtt>Att	p.V737I	C20orf26_ENST00000389656.3_Missense_Mutation_p.V93I|C20orf26_ENST00000377309.2_Missense_Mutation_p.V93I|C20orf26_ENST00000377293.1_Missense_Mutation_p.V93I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		737								p.V737I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTGCTCCTGGGTTAATGTCGT	0.522																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2209-2211)GTT>ATT		hypothetical protein LOC26074							201.0	171.0	181.0					20																	20232288		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20232288G>A																												ENST00000245957.5:c.2209G>A	20.37:g.20232288G>A	ENSP00000245957:p.Val737Ile					C20orf26_uc010zse.1_Missense_Mutation_p.V717I|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.V93I	p.V737I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2285	+			737					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2209G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160997	0.78226	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	6.05	6.05	0.98169	.	0.062811	0.64402	D	0.000006	T	0.59432	0.2193	L	0.53561	1.675	0.43195	D	0.995039	D;P;P	0.53312	0.959;0.91;0.859	P;P;P	0.52758	0.505;0.505;0.708	T	0.53599	-0.8416	10	0.31617	T	0.26	.	14.7216	0.69311	0.0686:0.0:0.9314:0.0	.	717;93;737	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	I	677;93;93;717;737;93	ENSP00000366524:V93I;ENSP00000374307:V93I;ENSP00000245957:V737I;ENSP00000366508:V93I	ENSP00000245957:V737I	V	+	1	0	C20orf26	20180288	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.458000	0.60095	2.866000	0.98385	0.650000	0.86243	GTT		PASS	0.522	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	109	25	109	---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:23966372C>T	ENST00000335694.4	-	5	667	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.V155M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612																																						uc002wts.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(463-465)GTG>ATG		gamma-glutamyltransferase light chain 1							78.0	81.0	80.0					20																	23966372		2203	4295	6498	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966372C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.463G>A	20.37:g.23966372C>T	ENSP00000337587:p.Val155Met					GGTLC1_uc002wtu.2_Missense_Mutation_p.V155M	p.V155M	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			5	596	-			155					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.463G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.889480	0.33348	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.10477	2.87;2.87;2.87	0.844	0.844	0.18943	.	0.070075	0.56097	D	0.000030	T	0.17408	0.0418	M	0.85542	2.76	0.35280	D	0.781245	P	0.52692	0.955	P	0.46076	0.503	T	0.22661	-1.0210	10	0.42905	T	0.14	-18.564	7.477	0.27382	0.0:0.9999:0.0:1.0E-4	.	155	Q9BX51	GGTL1_HUMAN	M	155	ENSP00000286890:V155M;ENSP00000278765:V155M;ENSP00000337587:V155M	ENSP00000278765:V155M	V	-	1	0	GGTLC1	23914372	0.994000	0.37717	0.183000	0.23137	0.185000	0.23345	3.462000	0.53042	0.088000	0.17205	0.089000	0.15464	GTG		PASS	0.612	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		14	84	14	84	---	---	---	---
STK4	6789	broad.mit.edu	37	20	43623803	43623803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:43623803G>T	ENST00000372806.3	+	6	693	c.598G>T	c.(598-600)Gga>Tga	p.G200*	STK4_ENST00000396731.4_Nonsense_Mutation_p.G200*|STK4_ENST00000499879.2_Nonsense_Mutation_p.G145*|STK4_ENST00000372801.1_Nonsense_Mutation_p.G200*	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.G200*(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TCAGGAAATTGGATACAACTG	0.453																																					GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(598-600)GGA>TGA		serine/threonine kinase 4							146.0	139.0	142.0					20																	43623803		2203	4300	6503	SO:0001587	stop_gained	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623803G>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.598G>T	20.37:g.43623803G>T	ENSP00000361892:p.Gly200*					STK4_uc010ggx.2_Nonsense_Mutation_p.G200*|STK4_uc010ggy.2_Nonsense_Mutation_p.G145*|STK4_uc010ggw.1_Nonsense_Mutation_p.G200*	p.G200*	NM_006282	NP_006273	Q13043	STK4_HUMAN			6	688	+		Myeloproliferative disorder(115;0.0122)	200			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Nonsense_Mutation	SNP	ENST00000372806.3	37	c.598G>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255196	0.95336	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	X	200;200;200;145	.	ENSP00000361887:G200X	G	+	1	0	STK4	43057217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.806000	0.96561	0.655000	0.94253	GGA		PASS	0.453	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		14	68	14	68	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57042222	57042222	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:57042222G>T	ENST00000371149.3	-	3	911	c.681C>A	c.(679-681)gaC>gaA	p.D227E	APCDD1L_ENST00000439429.1_Missense_Mutation_p.D238E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	227						integral component of membrane (GO:0016021)		p.D227E(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TCTCCGCCGGGTCGGTGTGGA	0.731																																						uc002xze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)GAC>GAA		adenomatosis polyposis coli down-regulated							20.0	25.0	23.0					20																	57042222		2200	4297	6497	SO:0001583	missense	164284					integral to membrane		g.chr20:57042222G>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.681C>A	20.37:g.57042222G>T	ENSP00000360191:p.Asp227Glu					APCDD1L_uc010zzp.1_Missense_Mutation_p.D238E	p.D227E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		3	867	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		227						Missense_Mutation	SNP	ENST00000371149.3	37	c.681C>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684036	0.14907	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.16897	2.31;2.31	5.27	0.392	0.16288	.	0.718085	0.13981	N	0.349483	T	0.10852	0.0265	N	0.21373	0.66	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.15484	0.009;0.013	T	0.30851	-0.9964	10	0.29301	T	0.29	-12.2611	10.6647	0.45723	0.0:0.2778:0.4783:0.244	.	238;227	F5H6V6;Q8NCL9	.;APCDL_HUMAN	E	227;238	ENSP00000360191:D227E;ENSP00000413261:D238E	ENSP00000360191:D227E	D	-	3	2	APCDD1L	56475628	0.001000	0.12720	0.000000	0.03702	0.385000	0.30292	-0.111000	0.10807	0.187000	0.20147	0.555000	0.69702	GAC		PASS	0.731	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		3	22	3	22	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57828032	57828032	+	Splice_Site	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:57828032G>T	ENST00000371030.2	+	4	4027		c.e4-1			NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCCTTGCAGGTCTGAATCT	0.463																																						uc002yan.2																			1	Unknown(1)		lung(1)	skin(13)|ovary(1)	14						c.e4-1		zinc finger protein 831							58.0	57.0	57.0					20																	57828032		1872	4113	5985	SO:0001630	splice_region_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57828032G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4028-1G>T	20.37:g.57828032G>T							p.G1343_splice	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			4	4028	+	all_lung(29;0.0085)							Q5TDR4|Q8TCP0	Splice_Site	SNP	ENST00000371030.2	37	c.4028_splice	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064733	0.20067	.	.	ENSG00000124203	ENST00000371030	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8065	0.63236	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF831	57261427	1.000000	0.71417	0.674000	0.29902	0.022000	0.10575	4.489000	0.60309	2.314000	0.78098	0.563000	0.77884	.		PASS	0.463	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	Intron	11	23	11	23	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58342370	58342370	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:58342370C>T	ENST00000371015.1	+	5	1138	c.671C>T	c.(670-672)tCc>tTc	p.S224F	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S183F|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S221F|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S183F|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S183F	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	224	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.S224F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGGAGAGATCCGTGGGCCAG	0.622																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(670-672)TCC>TTC		phosphatase and actin regulator 3 isoform 1							36.0	35.0	35.0					20																	58342370		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342370C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.671C>T	20.37:g.58342370C>T	ENSP00000360054:p.Ser224Phe					PHACTR3_uc002yat.2_Missense_Mutation_p.S221F|PHACTR3_uc010zzw.1_Missense_Mutation_p.S183F|PHACTR3_uc002yav.2_Missense_Mutation_p.S183F|PHACTR3_uc002yaw.2_Missense_Mutation_p.S183F|PHACTR3_uc002yax.2_Intron	p.S224F	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1138	+	all_lung(29;0.00344)		224			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.671C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	5.382	0.255724	0.10185	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.24538	1.86;1.86;1.85;1.85;1.85	4.7	2.51	0.30379	.	1.653510	0.03043	N	0.153538	T	0.21062	0.0507	L	0.36672	1.1	0.30364	N	0.783543	P;P	0.41748	0.641;0.761	B;B	0.35413	0.133;0.202	T	0.28138	-1.0053	10	0.56958	D	0.05	-7.6358	6.3582	0.21412	0.4292:0.439:0.1318:0.0	.	224;221	Q96KR7;B1AKX0	PHAR3_HUMAN;.	F	221;224;183;183;183	ENSP00000353002:S221F;ENSP00000360054:S224F;ENSP00000442483:S183F;ENSP00000347866:S183F;ENSP00000378998:S183F	ENSP00000347866:S183F	S	+	2	0	PHACTR3	57775765	0.224000	0.23674	0.453000	0.27007	0.924000	0.55760	2.462000	0.45049	0.936000	0.37367	0.460000	0.39030	TCC		PASS	0.622	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	30	9	30	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61340778	61340778	+	Silent	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:61340778C>T	ENST00000370501.3	+	1	590	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	73					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.L73L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACCTGGCGCTCTTCGTGGTGG	0.662																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(217-219)CTC>CTT		neurotensin receptor 1							100.0	69.0	79.0					20																	61340778		2203	4300	6503	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340778C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.219C>T	20.37:g.61340778C>T							p.L73L	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	590	+	Breast(26;3.65e-08)		73			Helical; Name=1; (Potential).		Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.219C>T	CCDS13502.1																																																																																				PASS	0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			4	20	4	20	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62851172	62851172	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr20:62851172C>G	ENST00000328439.1	+	13	2442	c.2078C>G	c.(2077-2079)cCc>cGc	p.P693R	MYT1_ENST00000360149.4_Missense_Mutation_p.P395R|MYT1_ENST00000536311.1_Missense_Mutation_p.P720R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P693R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agcagcagcCCCGGTGTGAAG	0.622																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2077-2079)CCC>CGC		myelin transcription factor 1							46.0	47.0	47.0					20																	62851172		2201	4300	6501	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62851172C>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2078C>G	20.37:g.62851172C>G	ENSP00000327465:p.Pro693Arg					MYT1_uc002yih.2_Missense_Mutation_p.P395R|MYT1_uc002yij.2_Missense_Mutation_p.P352R	p.P693R	NM_004535	NP_004526	Q01538	MYT1_HUMAN			13	2442	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		693			Ser-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2078C>G	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182170	0.38511	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.43688	0.94;4.35;4.35	5.75	5.75	0.90469	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.968;0.985	T	0.60647	-0.7222	10	0.52906	T	0.07	-17.4567	19.949	0.97192	0.0:1.0:0.0:0.0	.	720;693;395	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	395;693;720	ENSP00000353269:P395R;ENSP00000327465:P693R;ENSP00000442412:P720R	ENSP00000327465:P693R	P	+	2	0	MYT1	62321616	1.000000	0.71417	0.964000	0.40570	0.208000	0.24298	5.181000	0.65054	2.706000	0.92434	0.655000	0.94253	CCC		PASS	0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		4	22	4	22	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22652925	22652925	+	Missense_Mutation	SNP	G	G	C	rs373572347		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr21:22652925G>C	ENST00000400546.1	+	2	332	c.83G>C	c.(82-84)aGc>aCc	p.S28T	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.S53T|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	28	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S28T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATTTCACTTAGCAAAGTAGAG	0.308																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(82-84)AGC>ACC		neural cell adhesion molecule 2 precursor							64.0	61.0	62.0					21																	22652925		1798	4074	5872	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22652925G>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.83G>C	21.37:g.22652925G>C	ENSP00000383392:p.Ser28Thr					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.S53T	p.S28T	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	2	332	+		Lung NSC(9;0.195)	28			Ig-like C2-type 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.83G>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633678	0.47049	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.67865	-0.29;-0.29	5.73	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.082436	0.85682	D	0.000000	T	0.55657	0.1934	N	0.25890	0.77	0.42611	D	0.993312	B;P	0.39862	0.303;0.692	B;B	0.39971	0.25;0.315	T	0.58086	-0.7698	10	0.42905	T	0.14	-17.6213	13.4576	0.61208	0.0757:0.0:0.9243:0.0	.	53;28	B7Z841;O15394	.;NCAM2_HUMAN	T	28;53	ENSP00000383392:S28T;ENSP00000441887:S53T	ENSP00000383392:S28T	S	+	2	0	NCAM2	21574796	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.732000	0.62029	1.444000	0.47605	-0.237000	0.12165	AGC		PASS	0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	22	7	22	---	---	---	---
KRTAP6-3	337968	broad.mit.edu	37	21	31964914	31964914	+	Silent	SNP	C	C	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr21:31964914C>G	ENST00000391624.1	+	1	156	c.129C>G	c.(127-129)ggC>ggG	p.G43G	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	43						intermediate filament (GO:0005882)		p.G43G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						tgggctttggctatggaggcc	0.627																																						uc002yom.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)GGC>GGG		keratin associated protein 6-3							84.0	94.0	91.0					21																	31964914		2203	4300	6503	SO:0001819	synonymous_variant	337968							g.chr21:31964914C>G	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.129C>G	21.37:g.31964914C>G							p.G50G	NM_181605	NP_853636					1	156	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.150C>G																																																																																					PASS	0.627	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		6	18	6	18	---	---	---	---
SH3BGR	6450	broad.mit.edu	37	21	40824044	40824044	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr21:40824044G>T	ENST00000333634.4	+	1	289	c.211G>T	c.(211-213)Gct>Tct	p.A71S	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	71					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.A71S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGTGTTTGTTGCTACATCTTC	0.483																																						uc002yya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GCT>TCT		SH3-binding domain and glutamic acid-rich							224.0	207.0	213.0					21																	40824044		2203	4300	6503	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40824044G>T		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.211G>T	21.37:g.40824044G>T	ENSP00000332513:p.Ala71Ser					SH3BGR_uc002yxz.2_Intron	p.A71S	NM_007341	NP_031367	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	1	265	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	71					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.211G>T	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298568	0.40694	.	.	ENSG00000185437	ENST00000333634	T	0.76060	-0.99	5.75	4.86	0.63082	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	L	0.28608	0.87	0.48571	D	0.999678	B	0.14012	0.009	B	0.39419	0.299	T	0.58803	-0.7572	10	0.10111	T	0.7	.	13.1225	0.59336	0.0754:0.0:0.9246:0.0	.	71	P55822	SH3BG_HUMAN	S	71	ENSP00000332513:A71S	ENSP00000332513:A71S	A	+	1	0	SH3BGR	39745914	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.668000	0.68074	1.420000	0.47138	0.655000	0.94253	GCT		PASS	0.483	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		41	146	41	146	---	---	---	---
KRTAP10-8	386681	broad.mit.edu	37	21	46032517	46032517	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr21:46032517T>C	ENST00000334662.2	+	1	522	c.500T>C	c.(499-501)gTg>gCg	p.V167A	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	167	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.V167A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCCTGCTGTGTGCCCATCTGC	0.617																																						uc002zfo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|breast(1)	2						c.(499-501)GTG>GCG		keratin associated protein 10-8							218.0	198.0	205.0					21																	46032517		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032517T>C	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.500T>C	21.37:g.46032517T>C	ENSP00000335565:p.Val167Ala					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V167A	NM_198695	NP_941968	P60410	KR108_HUMAN			1	522	+			167			19 X 5 AA repeats of C-C-X(3).|11.		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.500T>C	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	t	2.303	-0.359814	0.05138	.	.	ENSG00000187766	ENST00000334662	T	0.01369	4.97	3.27	0.657	0.17850	.	.	.	.	.	T	0.02418	0.0074	M	0.90082	3.085	0.09310	N	1	P	0.38827	0.649	B	0.36335	0.222	T	0.41466	-0.9507	9	0.09590	T	0.72	.	3.6328	0.08138	0.1928:0.1185:0.0:0.6886	.	167	P60410	KR108_HUMAN	A	167	ENSP00000335565:V167A	ENSP00000335565:V167A	V	+	2	0	KRTAP10-8	44856945	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.697000	0.05098	-0.097000	0.12307	0.383000	0.25322	GTG		PASS	0.617	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		44	183	44	183	---	---	---	---
KRTAP10-8	386681	broad.mit.edu	37	21	46032668	46032668	+	Missense_Mutation	SNP	C	C	G	rs139387695	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr21:46032668C>G	ENST00000334662.2	+	1	673	c.651C>G	c.(649-651)tgC>tgG	p.C217W	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	217	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C217W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						gccctgtgtgccggcctgcct	0.682																																						uc002zfo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|breast(1)	2						c.(649-651)TGC>TGG		keratin associated protein 10-8							92.0	101.0	98.0					21																	46032668		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032668C>G	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.651C>G	21.37:g.46032668C>G	ENSP00000335565:p.Cys217Trp					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C217W	NM_198695	NP_941968	P60410	KR108_HUMAN			1	673	+			217			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.651C>G	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	3.812	-0.039442	0.07497	.	.	ENSG00000187766	ENST00000334662	T	0.02552	4.25	3.43	1.47	0.22746	.	.	.	.	.	T	0.06872	0.0175	M	0.90650	3.135	0.41141	D	0.985953	B	0.22414	0.069	B	0.26310	0.068	T	0.02546	-1.1143	9	0.87932	D	0	.	6.0079	0.19557	0.0:0.6833:0.1977:0.119	.	217	P60410	KR108_HUMAN	W	217	ENSP00000335565:C217W	ENSP00000335565:C217W	C	+	3	2	KRTAP10-8	44857096	0.430000	0.25538	0.353000	0.25747	0.012000	0.07955	0.706000	0.25690	0.528000	0.28580	0.467000	0.42956	TGC		PASS	0.682	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		15	56	15	56	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17468980	17468980	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:17468980G>T	ENST00000400588.1	-	3	663	c.556C>A	c.(556-558)Ctc>Atc	p.L186I	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	186								p.L186I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTTGGGGGAGGTGCTGATGG	0.612																																						uc002zlw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(556-558)CTC>ATC		GRB2-associated binding protein family, member							46.0	59.0	54.0					22																	17468980		2112	4255	6367	SO:0001583	missense	128954							g.chr22:17468980G>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.556C>A	22.37:g.17468980G>T	ENSP00000383431:p.Leu186Ile					GAB4_uc010gqs.1_Missense_Mutation_p.L169I	p.L186I	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			3	664	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	186						Missense_Mutation	SNP	ENST00000400588.1	37	c.556C>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	5.396	0.258287	0.10239	.	.	ENSG00000215568	ENST00000400588	T	0.32988	1.43	1.9	1.9	0.25705	.	0.243530	0.34725	N	0.003733	T	0.26048	0.0635	N	0.08118	0	0.24817	N	0.992609	D	0.57571	0.98	D	0.67548	0.952	T	0.07790	-1.0754	10	0.25106	T	0.35	.	7.3004	0.26418	0.0:0.0:1.0:0.0	.	186	Q2WGN9	GAB4_HUMAN	I	186	ENSP00000383431:L186I	ENSP00000383431:L186I	L	-	1	0	GAB4	15848980	1.000000	0.71417	0.986000	0.45419	0.045000	0.14185	3.420000	0.52735	1.360000	0.45960	0.313000	0.20887	CTC		PASS	0.612	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		7	17	7	17	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619472	17619472	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:17619472C>A	ENST00000336737.4	-	7	928	c.903G>T	c.(901-903)tgG>tgT	p.W301C	CECR5_ENST00000155674.5_Missense_Mutation_p.W271C|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	301						mitochondrion (GO:0005739)		p.W301C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TGGGGGCGGCCCAGCCCCGCC	0.602																																						uc002zmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)TGG>TGT		cat eye syndrome chromosome region, candidate 5							104.0	111.0	108.0					22																	17619472		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619472C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.903G>T	22.37:g.17619472C>A	ENSP00000337358:p.Trp301Cys					CECR5_uc002zmd.2_Missense_Mutation_p.W112C|CECR5_uc002zme.2_Missense_Mutation_p.W93C|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.W271C	p.W301C	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			7	931	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	301					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.903G>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797500	0.50208	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.22539	1.95;1.95	4.43	4.43	0.53597	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.76574	2.34	0.80722	D	1	B;D;D	0.71674	0.402;0.997;0.998	B;P;D	0.64595	0.086;0.894;0.927	T	0.36986	-0.9725	10	0.36615	T	0.2	-11.3565	17.5919	0.87999	0.0:1.0:0.0:0.0	.	271;301;165	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	C	271;301	ENSP00000155674:W271C;ENSP00000337358:W301C	ENSP00000155674:W271C	W	-	3	0	CECR5	15999472	1.000000	0.71417	0.948000	0.38648	0.024000	0.10985	7.068000	0.76748	2.451000	0.82905	0.549000	0.68633	TGG		PASS	0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		28	121	28	121	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19865642	19865642	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:19865642T>G	ENST00000400521.1	-	16	1422	c.1416A>C	c.(1414-1416)gaA>gaC	p.E472D	TXNRD2_ENST00000400519.1_Missense_Mutation_p.E471D|TXNRD2_ENST00000400518.1_Missense_Mutation_p.E442D|TXNRD2_ENST00000535882.1_Missense_Mutation_p.E471D|TXNRD2_ENST00000542719.1_Missense_Mutation_p.E442D	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	472					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E472D(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CTTGAGTAACTTCGCCTGCGT	0.602																																						uc011ahc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1414-1416)GAA>GAC		thioredoxin reductase 2 precursor							42.0	48.0	46.0					22																	19865642		2071	4210	6281	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19865642T>G	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1416A>C	22.37:g.19865642T>G	ENSP00000383365:p.Glu472Asp					TXNRD2_uc002zql.1_Missense_Mutation_p.E226D|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.E471D|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.E122D	p.E472D	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			16	1449	-	Colorectal(54;0.0993)		472					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1416A>C	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419582	0.62622	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.07	5.07	0.68467	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.80422	2.495	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	D	0.96997	0.9726	10	0.87932	D	0	-2.153	14.1204	0.65184	0.0:0.0:0.0:1.0	.	472;471;449	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	D	442;472;472;449;376;471;471;442	ENSP00000383362:E442D;ENSP00000383365:E472D;ENSP00000383369:E449D;ENSP00000383363:E471D;ENSP00000439314:E471D;ENSP00000439570:E442D	ENSP00000383362:E442D	E	-	3	2	TXNRD2	18245642	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	2.373000	0.44266	2.046000	0.60703	0.379000	0.24179	GAA		PASS	0.602	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		8	20	8	20	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869016	22869016	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:22869016C>A	ENST00000302097.3	-	2	1191	c.939G>T	c.(937-939)atG>atT	p.M313I		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	313					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.M313I(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCATGTGATTCATAAACTTAA	0.473																																						uc002zwe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)ATG>ATT		zinc finger protein 280A							117.0	111.0	113.0					22																	22869016		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869016C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.939G>T	22.37:g.22869016C>A	ENSP00000302855:p.Met313Ile					LOC96610_uc011aim.1_Intron	p.M313I	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1192	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	313						Missense_Mutation	SNP	ENST00000302097.3	37	c.939G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259977	0.80246	.	.	ENSG00000169548	ENST00000302097	T	0.01304	5.03	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.03263	0.0095	N	0.21194	0.64	0.38278	D	0.942348	D	0.69078	0.997	D	0.62955	0.909	T	0.65631	-0.6121	9	0.44086	T	0.13	-7.1669	14.2037	0.65721	0.0:1.0:0.0:0.0	.	313	P59817	Z280A_HUMAN	I	313	ENSP00000302855:M313I	ENSP00000302855:M313I	M	-	3	0	ZNF280A	21199016	1.000000	0.71417	0.985000	0.45067	0.873000	0.50193	5.001000	0.63946	2.456000	0.83038	0.655000	0.94253	ATG		PASS	0.473	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		20	89	20	89	---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26860679	26860679	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:26860679C>A	ENST00000398145.2	-	11	1533	c.917G>T	c.(916-918)tGg>tTg	p.W306L	HPS4_ENST00000398141.1_Missense_Mutation_p.W319L|HPS4_ENST00000336873.5_Missense_Mutation_p.W306L|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.W301L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	306					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.W319L(1)|p.W306L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGGGTGGTCCAGGCCATGGA	0.587									Hermansky-Pudlak syndrome																													uc003acl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(916-918)TGG>TTG		light ear protein isoform a							106.0	93.0	97.0					22																	26860679		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860679C>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.917G>T	22.37:g.26860679C>A	ENSP00000381213:p.Trp306Leu					HPS4_uc003aci.2_Missense_Mutation_p.W301L|HPS4_uc003acj.2_Missense_Mutation_p.W170L|HPS4_uc003ack.2_Missense_Mutation_p.W97L|HPS4_uc003acn.2_Missense_Mutation_p.W152L|HPS4_uc010gvd.1_Missense_Mutation_p.W324L|HPS4_uc003ach.2_Missense_Mutation_p.W41L	p.W306L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	1576	-			306					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.917G>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	6.562	0.472038	0.12461	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.56444	1.54;1.52;1.54;1.54;0.46	4.42	2.33	0.28932	.	1.087150	0.07007	N	0.824533	T	0.49047	0.1534	L	0.59436	1.845	0.09310	N	1	B;B;B;B;B;B	0.22414	0.0;0.069;0.02;0.0;0.001;0.02	B;B;B;B;B;B	0.21360	0.0;0.034;0.034;0.0;0.003;0.034	T	0.36866	-0.9730	10	0.33940	T	0.23	3.3973	8.5282	0.33317	0.0:0.7501:0.1572:0.0926	.	306;306;306;306;319;301	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	L	306;319;301;306;324;324	ENSP00000381213:W306L;ENSP00000381210:W319L;ENSP00000384185:W301L;ENSP00000338457:W306L;ENSP00000415081:W324L	ENSP00000325840:W324L	W	-	2	0	HPS4	25190679	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.159000	0.10056	0.165000	0.19558	-0.795000	0.03280	TGG		PASS	0.587	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		3	43	3	43	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28196401	28196401	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:28196401G>C	ENST00000302326.4	-	1	1085	c.131C>G	c.(130-132)cCc>cGc	p.P44R		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	44					intramembranous ossification (GO:0001957)			p.P44R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGGCCAGGGGGCCCCCCAGT	0.642			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(130-132)CCC>CGC		meningioma  1							58.0	66.0	63.0					22																	28196401		1901	4106	6007	SO:0001583	missense	4330						binding	g.chr22:28196401G>C	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.131C>G	22.37:g.28196401G>C	ENSP00000304956:p.Pro44Arg						p.P44R	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	1086	-			44					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.131C>G	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216853	0.22373	.	.	ENSG00000169184	ENST00000302326	T	0.64085	-0.08	4.32	2.12	0.27331	.	0.437004	0.21390	N	0.075334	T	0.44705	0.1306	N	0.19112	0.55	0.27603	N	0.948892	B	0.25441	0.126	B	0.26864	0.074	T	0.42649	-0.9439	10	0.62326	D	0.03	-1.8168	9.2403	0.37493	0.0:0.1594:0.6755:0.1651	.	44	Q10571	MN1_HUMAN	R	44	ENSP00000304956:P44R	ENSP00000304956:P44R	P	-	2	0	MN1	26526401	1.000000	0.71417	0.348000	0.25681	0.286000	0.27126	3.898000	0.56281	0.502000	0.28037	-0.360000	0.07572	CCC		PASS	0.642	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		8	71	8	71	---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32625228	32625228	+	Silent	SNP	G	G	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:32625228G>A	ENST00000266086.4	-	11	1244	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	411					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.T411T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCGCATCTTGGTGTAGAGGT	0.552																																						uc003ami.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)ACC>ACT		solute carrier family 5 (low affinity glucose							164.0	156.0	159.0					22																	32625228		2203	4300	6503	SO:0001819	synonymous_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32625228G>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1233C>T	22.37:g.32625228G>A							p.T411T	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			11	1235	-			411			Extracellular (Potential).		O15279	Silent	SNP	ENST00000266086.4	37	c.1233C>T	CCDS13903.1																																																																																				PASS	0.552	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		25	68	25	68	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262852	42262852	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr22:42262852A>G	ENST00000361204.4	+	2	272	c.106A>G	c.(106-108)Agt>Ggt	p.S36G		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	36	Transcriptional activation (acidic).				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S36G(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCAATTTGTCAGTAATCAAGT	0.428																																						uc003bbi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(106-108)AGT>GGT		sterol regulatory element-binding transcription							132.0	123.0	126.0					22																	42262852		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262852A>G	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.106A>G	22.37:g.42262852A>G	ENSP00000354476:p.Ser36Gly					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	p.S36G	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			2	275	+			36			Transcriptional activation (acidic).|Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.106A>G	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447332	0.84101	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.57436	0.4	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	N	0.19112	0.55	0.58432	D	0.99999	D	0.60575	0.988	P	0.51615	0.675	T	0.49051	-0.8979	10	0.41790	T	0.15	-19.9219	14.1681	0.65490	1.0:0.0:0.0:0.0	.	36	Q12772	SRBP2_HUMAN	G	36	ENSP00000354476:S36G	ENSP00000354476:S36G	S	+	1	0	SREBF2	40592798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.953000	0.93041	1.736000	0.51660	0.459000	0.35465	AGT		PASS	0.428	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		29	137	29	137	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12905134	12905134	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:12905134A>T	ENST00000380659.3	+	3	1646	c.1507A>T	c.(1507-1509)Aat>Tat	p.N503Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	503					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|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 NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.N503Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCTAAGTAAAAATAGTATATT	0.368																																						uc004cvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1507-1509)AAT>TAT		toll-like receptor 7 precursor	Imiquimod(DB00724)						85.0	92.0	89.0					X																	12905134		2202	4297	6499	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905134A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1507A>T	X.37:g.12905134A>T	ENSP00000370034:p.Asn503Tyr						p.N503Y	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1646	+			503			Extracellular (Potential).|LRR 16.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1507A>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038682	0.35989	.	.	ENSG00000196664	ENST00000380659	T	0.74526	-0.85	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93400	0.6759	10	0.87932	D	0	.	15.1934	0.73063	1.0:0.0:0.0:0.0	.	503	Q9NYK1	TLR7_HUMAN	Y	503	ENSP00000370034:N503Y	ENSP00000370034:N503Y	N	+	1	0	TLR7	12815055	1.000000	0.71417	0.705000	0.30386	0.154000	0.21943	9.283000	0.95860	1.971000	0.57363	0.486000	0.48141	AAT		PASS	0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		38	74	38	74	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148709	34148709	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:34148709C>T	ENST00000346193.3	-	1	1738	c.1687G>A	c.(1687-1689)Gct>Act	p.A563T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	563								p.A563T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACTCTGGAGCTTTGGGAGGC	0.562													c|||	1	0.000264901	0.0	0.0014	3775	,	,		11058	0.0		0.0	False		,,,				2504	0.0					uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1687-1689)GCT>ACT		hypothetical protein LOC158724							65.0	63.0	63.0					X																	34148709		2168	4271	6439	SO:0001583	missense	158724							g.chrX:34148709C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1687G>A	X.37:g.34148709C>T	ENSP00000345029:p.Ala563Thr						p.A563T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1720	-			563					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1687G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.306764	0.00240	.	.	ENSG00000185448	ENST00000346193	T	0.10099	2.91	0.527	-0.637	0.11504	.	.	.	.	.	T	0.03220	0.0094	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	8	0.06757	T	0.87	.	.	.	.	.	563	Q5JRC9	FA47A_HUMAN	T	563	ENSP00000345029:A563T	ENSP00000345029:A563T	A	-	1	0	FAM47A	34058630	0.002000	0.14202	0.004000	0.12327	0.024000	0.10985	0.272000	0.18644	-0.335000	0.08451	-0.796000	0.03273	GCT		PASS	0.562	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		3	27	3	27	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78011260	78011260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:78011260C>A	ENST00000435339.3	+	2	1280	c.894C>A	c.(892-894)tgC>tgA	p.C298*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	298					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)|lipid binding (GO:0008289)	p.C298*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TCACCTTGTGCCTTGCAACTC	0.423																																						uc010nme.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(892-894)TGC>TGA		lysophosphatidic acid receptor 4							201.0	159.0	173.0					X																	78011260		2203	4300	6503	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011260C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.894C>A	X.37:g.78011260C>A	ENSP00000408205:p.Cys298*						p.C298*	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1299	+			298			Helical; Name=7; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.894C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.418575	0.97550	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	3.99	2.19	0.27852	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1847	0.48648	0.0:0.8169:0.0:0.1831	.	.	.	.	X	298	.	ENSP00000362398:C298X	C	+	3	2	LPAR4	77897916	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	2.869000	0.48444	-0.042000	0.13535	-1.712000	0.00714	TGC		PASS	0.423	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		20	29	20	29	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662244	99662244	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:99662244G>T	ENST00000373034.4	-	1	3027	c.1352C>A	c.(1351-1353)cCg>cAg	p.P451Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.P451Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.P451Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	451	Cadherin 4. {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.P451Q(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGAAAAGTGCGGGTGGTTGTC	0.572																																						uc010nmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1351-1353)CCG>CAG		protocadherin 19 isoform b							133.0	130.0	131.0					X																	99662244		2119	4224	6343	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662244G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1352C>A	X.37:g.99662244G>T	ENSP00000362125:p.Pro451Gln					PCDH19_uc004efw.3_Missense_Mutation_p.P451Q|PCDH19_uc004efx.3_Missense_Mutation_p.P451Q	p.P451Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3028	-			451			Cadherin 4.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1352C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702376	0.68501	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	D;D;D	0.84944	-1.92;-1.92;-1.92	5.95	5.95	0.96441	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97976	1.0346	10	0.87932	D	0	.	19.254	0.93938	0.0:0.0:1.0:0.0	.	451;451;451	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	451	ENSP00000400327:P451Q;ENSP00000362125:P451Q;ENSP00000255531:P451Q	ENSP00000255531:P451Q	P	-	2	0	PCDH19	99548900	1.000000	0.71417	0.962000	0.40283	0.983000	0.72400	9.869000	0.99810	2.498000	0.84270	0.513000	0.50165	CCG		PASS	0.572	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		22	27	22	27	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110653548	110653548	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:110653548G>T	ENST00000338081.3	-	2	493	c.322C>A	c.(322-324)Cct>Act	p.P108T	DCX_ENST00000371993.2_Missense_Mutation_p.P27T|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.P27T|DCX_ENST00000356915.2_Missense_Mutation_p.P27T|DCX_ENST00000488120.1_Missense_Mutation_p.P27T	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	108					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.P27T(1)|p.P108T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTGGGGCTAGGCAACCCATTC	0.493																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(322-324)CCT>ACT		doublecortin isoform a							178.0	151.0	160.0					X																	110653548		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653548G>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.322C>A	X.37:g.110653548G>T	ENSP00000337697:p.Pro108Thr					DCX_uc011msv.1_Missense_Mutation_p.P108T|DCX_uc004epe.2_Missense_Mutation_p.P27T|DCX_uc004epf.2_Missense_Mutation_p.P27T|DCX_uc004epg.2_Missense_Mutation_p.P27T	p.P108T	NM_000555	NP_000546	O43602	DCX_HUMAN			2	494	-			108					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.322C>A	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436349|4.436349	0.83885|0.83885	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|T;T;T;T;T;T	.|0.52526	.|1.38;1.39;1.25;1.38;1.39;0.66	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.61261	.|0.2333	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.996;0.999	.|D;D	.|0.75484	.|0.969;0.986	.|T	.|0.64236	.|-0.6455	.|10	.|0.87932	.|D	.|0	.|.	18.1845|18.1845	0.89789|0.89789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|96;108	.|B4DM53;O43602	.|.;DCX_HUMAN	X|T	99|27;27;108;27;27;27	.|ENSP00000349385:P27T;ENSP00000361061:P27T;ENSP00000337697:P108T;ENSP00000348553:P27T;ENSP00000419861:P27T;ENSP00000418811:P27T	.|ENSP00000337697:P108T	C|P	-|-	3|1	2|0	DCX|DCX	110540204|110540204	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.990000|0.990000	0.78478|0.78478	9.657000|9.657000	0.98554|0.98554	2.487000|2.487000	0.83934|0.83934	0.513000|0.513000	0.50165|0.50165	TGC|CCT		PASS	0.493	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		28	38	28	38	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111155954	111155954	+	Nonsense_Mutation	SNP	G	G	T	rs141725174		TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:111155954G>T	ENST00000262839.2	-	3	1383	c.465C>A	c.(463-465)taC>taA	p.Y155*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	155					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.Y155*(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGATGATTTCGTAGTTGTTGG	0.507																																						uc004epl.1																			1	Substitution - Nonsense(1)		lung(1)	urinary_tract(1)	1						c.(463-465)TAC>TAA		transient receptor potential cation channel,							122.0	103.0	109.0					X																	111155954		2203	4300	6503	SO:0001587	stop_gained	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155954G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.465C>A	X.37:g.111155954G>T	ENSP00000262839:p.Tyr155*					TRPC5_uc004epm.1_Nonsense_Mutation_p.Y155*	p.Y155*	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			3	1384	-			155			Cytoplasmic (Potential).|ANK 4.		B2RP53|O75233|Q5JXY8|Q9Y514	Nonsense_Mutation	SNP	ENST00000262839.2	37	c.465C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	44	11.000282	0.99501	.	.	ENSG00000072315	ENST00000262839	.	.	.	5.43	-1.42	0.08913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5153	12.1548	0.54070	0.6119:0.0:0.3881:0.0	.	.	.	.	X	155	.	ENSP00000262839:Y155X	Y	-	3	2	TRPC5	111042610	0.318000	0.24598	0.998000	0.56505	0.977000	0.68977	-0.156000	0.10100	-0.129000	0.11620	-0.395000	0.06472	TAC		PASS	0.507	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		11	19	11	19	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150844595	150844595	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chrX:150844595G>T	ENST00000370357.4	+	16	2547	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	768						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.D768Y(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCAACGTGACTCAAATAA	0.567																																						uc004fev.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2302-2304)GAC>TAC		PAS domain containing 1							114.0	101.0	105.0					X																	150844595		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150844595G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2302G>T	X.37:g.150844595G>T	ENSP00000359382:p.Asp768Tyr						p.D768Y	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			16	2634	+	Acute lymphoblastic leukemia(192;6.56e-05)		768					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.2302G>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817905	0.32145	.	.	ENSG00000166049	ENST00000370357	T	0.39592	1.07	2.93	-4.68	0.03309	.	.	.	.	.	T	0.32164	0.0820	N	0.24115	0.695	0.09310	N	1	D	0.53151	0.958	P	0.54026	0.74	T	0.20472	-1.0274	9	0.87932	D	0	.	2.0511	0.03571	0.1829:0.168:0.4794:0.1697	.	768	Q8IV76	PASD1_HUMAN	Y	768	ENSP00000359382:D768Y	ENSP00000359382:D768Y	D	+	1	0	PASD1	150595251	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.391000	0.00487	-1.391000	0.02085	0.436000	0.28706	GAC		PASS	0.567	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		15	20	15	20	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs201732168|rs113202486|rs574714675|rs71010672	byFrequency	TCGA-22-5489-01A-01D-1632-08	TCGA-22-5489-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c4eb6681-7ec3-4688-b06a-c47a0043f3fb	f5eb9711-2dc9-4a87-b27b-784ffccaa8fd	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.55																																						uc003qxt.2																			2	Insertion - In frame(1)|Substitution - coding silent(1)		prostate(1)|breast(1)	ovary(1)	1						c.(187-192)insCAG		TATA box binding protein																																				SO:0001652	inframe_insertion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871013_170871014insCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.211_213dupCAG	6.37:g.170871020_170871022dupCAG	ENSP00000375942:p.Gln95dup					TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	p.95_96insQ	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	421_422	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95_96					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Ins	INS	ENST00000392092.2	37	c.189_190insCAG	CCDS5315.1																																																																																					0.550	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		32	24	32	24	---	---	---	---
