#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1221528G>A	ENST00000338555.2	+	4	1433	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	SCNN1D_ENST00000325425.8_Missense_Mutation_p.V163I|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V97I|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V261I			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	97					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)	p.V261I(2)|p.V97I(2)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGGAGCCCTGGTCGCGCTCTG	0.692																																							uc001adu.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(289-291)GTC>ATC		sodium channel, nonvoltage-gated 1, delta							24.0	26.0	25.0					1																	1221528		2177	4280	6457	SO:0001583	missense	6339							g.chr1:1221528G>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.289G>A	1.37:g.1221528G>A	ENSP00000339504:p.Val97Ile					SCNN1D_uc001adt.1_Missense_Mutation_p.V261I|SCNN1D_uc001adw.2_Missense_Mutation_p.V163I|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.V97I	p.V97I	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	6	913	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.289G>A		.	.	.	.	.	.	.	.	.	.	g	15.13	2.741191	0.49151	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000470022;ENST00000325425;ENST00000400928	T;T;D;T;T	0.83837	-0.0;-0.0;-1.77;-0.0;-0.0	4.53	3.6	0.41247	.	0.431796	0.21202	N	0.078446	T	0.80088	0.4559	L	0.34521	1.04	0.09310	N	1	B;P	0.47545	0.073;0.897	B;P	0.48488	0.105;0.579	T	0.72456	-0.4288	10	0.62326	D	0.03	.	13.0992	0.59210	0.0:0.0:0.839:0.161	.	97;261	P51172;A6NNF7	SCNND_HUMAN;.	I	128;261;97;133;163;97	ENSP00000368411:V261I;ENSP00000339504:V97I;ENSP00000420548:V133I;ENSP00000321594:V163I;ENSP00000383717:V97I	ENSP00000321594:V163I	V	+	1	0	SCNN1D	1211391	0.079000	0.21365	0.011000	0.14972	0.005000	0.04900	2.544000	0.45761	0.871000	0.35750	0.486000	0.48141	GTC		0.692	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		9	9	0	0	0	0.006214	0	9	9				
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1403796G>C	ENST00000378785.2	+	12	2117	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding (GO:0005524)	p.L374L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGGGTCCTGACCGAGGCCA	0.672																																							uc001aft.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1120-1122)CTG>CTC		ATPase family, AAA domain containing 3C							35.0	38.0	37.0					1																	1403796		2201	4295	6496	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1403796G>C	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1122G>C	1.37:g.1403796G>C							p.L374L	NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	12	2117	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	374					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.1122G>C	CCDS44039.1																																																																																				0.672	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		8	31	0	0	0	0.004482	0	8	31				
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:10238755A>T	ENST00000253251.8	+	25	4031	c.3192A>T	c.(3190-3192)gcA>gcT	p.A1064A	UBE4B_ENST00000343090.6_Silent_p.A1193A|UBE4B_ENST00000377157.3_Silent_p.A948A					ubiquitination factor E4B									p.A1064A(2)|p.A1193A(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCGGAAGGCAGGGATCAAAT	0.453																																							uc001aqs.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)	4						c.(3577-3579)GCA>GCT		ubiquitination factor E4B isoform 1							73.0	70.0	71.0					1																	10238755		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10238755A>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3192A>T	1.37:g.10238755A>T						UBE4B_uc001aqr.3_Silent_p.A1064A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.A648A|UBE4B_uc001aqu.2_Silent_p.A74A	p.A1193A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	26	4292	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1193						Silent	SNP	ENST00000253251.8	37	c.3579A>T	CCDS110.1																																																																																				0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		17	53	0	0	0	0.004007	0	17	53				
NBPF1	55672	broad.mit.edu	37	1	16892902	16892902	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:16892902C>A	ENST00000430580.2	-	26	3779		c.e26+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTCAAAGTTACCTGGGGCATG	0.413																																							uc009vos.1		NA																	0					0						c.e27+1		hypothetical protein LOC55672							207.0	189.0	196.0					1																	16892902		1362	2369	3731	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16892902C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2891+1G>T	1.37:g.16892902C>A						uc001ayw.2_5'Flank	p.R1039_splice	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	4004	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.3116_splice																																																																																					0.413	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	7	494	1	0	3.07112e-06	0.000978	3.64235e-06	7	494				
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:20416375C>A	ENST00000375108.3	+	4	547	c.279C>A	c.(277-279)ggC>ggA	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582																																							uc001bcy.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(277-279)GGC>GGA		phospholipase A2, group V precursor							95.0	78.0	84.0					1																	20416375		2203	4300	6503	SO:0001819	synonymous_variant	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20416375C>A	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.279C>A	1.37:g.20416375C>A						PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Silent_p.G124G	p.G93G	NM_000929	NP_000920	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	4	547	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	93					Q8N435	Silent	SNP	ENST00000375108.3	37	c.279C>A	CCDS202.1																																																																																				0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		5	40	1	0	0.000602214	0.000602	0.000662548	5	40				
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:21044096G>C	ENST00000247986.2	-	1	414	c.104C>G	c.(103-105)gCc>gGc	p.A35G	SH2D5_ENST00000460804.1_5'Flank|KIF17_ENST00000375044.1_5'Flank|KIF17_ENST00000400463.3_Missense_Mutation_p.A35G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	35	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.A35G(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCAGCACTGGGCGCGCGCGCA	0.692																																							uc001bdr.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(103-105)GCC>GGC		kinesin family member 17 isoform a							19.0	22.0	21.0					1																	21044096		2196	4293	6489	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21044096G>C	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.104C>G	1.37:g.21044096G>C	ENSP00000247986:p.Ala35Gly					KIF17_uc001bds.3_Missense_Mutation_p.A35G	p.A35G	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	1	222	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	35			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.104C>G	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203167	0.22121	.	.	ENSG00000117245	ENST00000400463;ENST00000247986	T;T	0.75367	-0.93;-0.93	4.26	4.26	0.50523	Kinesin, motor domain (4);	.	.	.	.	T	0.41534	0.1163	N	0.00890	-1.11	0.23657	N	0.997184	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14090	-1.0485	9	0.02654	T	1	.	13.071	0.59061	0.0:0.8368:0.1632:0.0	.	35;35	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	G	35	ENSP00000383311:A35G;ENSP00000247986:A35G	ENSP00000247986:A35G	A	-	2	0	KIF17	20916683	1.000000	0.71417	0.999000	0.59377	0.675000	0.39556	3.361000	0.52306	1.014000	0.39417	-0.332000	0.08345	GCC		0.692	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		18	39	0	0	0	0.007413	0	18	39				
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:25291042G>A	ENST00000338888.3	-	2	266	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RP11-84D1.1_ENST00000456316.1_RNA|RUNX3_ENST00000399916.1_Silent_p.F7F			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	0					axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F7F(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGAAGGAGTCGAAGATGCTGT	0.587																																							uc009vrj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(19-21)TTC>TTT		runt-related transcription factor 3 isoform 1							66.0	52.0	57.0					1																	25291042		2202	4300	6502	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25291042G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.21C>T	1.37:g.25291042G>A						RUNX3_uc001bjr.2_Silent_p.F7F|RUNX3_uc009vrk.2_Silent_p.F7F|RUNX3_uc009vrl.1_Silent_p.F7F	p.F7F	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	2	267	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	252			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000338888.3	37	c.21C>T	CCDS30633.1																																																																																				0.587	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009285.1	NM_004350		5	16	0	0	0	0.000602	0	5	16				
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:40148339G>T	ENST00000372844.3	-	4	836	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)	p.Q149K(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCACACGCTGCTGGGGCGTG	0.547																																							uc001cdr.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(445-447)CAG>AAG		hippocalcin-like protein 4							139.0	119.0	126.0					1																	40148339		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40148339G>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.445C>A	1.37:g.40148339G>T	ENSP00000361935:p.Gln149Lys					HPCAL4_uc010oix.1_Missense_Mutation_p.Q77K	p.Q149K	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	565	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	149			EF-hand 4.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.445C>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105472	0.20632	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.66995	-0.24	4.77	4.77	0.60923	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	N	0.25144	0.715	0.54753	D	0.999981	D;B	0.62365	0.991;0.001	D;B	0.78314	0.991;0.009	T	0.59354	-0.7470	10	0.02654	T	1	.	13.6434	0.62265	0.0:0.0:0.8448:0.1551	.	77;149	B4DGW9;Q9UM19	.;HPCL4_HUMAN	K	149;141	ENSP00000361935:Q149K	ENSP00000361935:Q149K	Q	-	1	0	HPCAL4	39920926	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.457000	0.66672	2.595000	0.87683	0.462000	0.41574	CAG		0.547	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		52	129	1	0	6.3008e-33	0.00361	1.11534e-32	52	129				
CTPS1	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:41453091G>T	ENST00000372621.4	+	4	893	c.385G>T	c.(385-387)Gcg>Tcg	p.A129S	CTPS1_ENST00000372616.1_Missense_Mutation_p.A129S|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000543104.1_Missense_Mutation_p.A136S	NM_001905.2	NP_001896.2			CTP synthase 1									p.A129S(4)		endometrium(3)|lung(10)	13						GATGAGACAGGCGTTAATACC	0.433																																							uc001cgk.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(385-387)GCG>TCG		CTP synthase	L-Glutamine(DB00130)						261.0	236.0	244.0					1																	41453091		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41453091G>T	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.385G>T	1.37:g.41453091G>T	ENSP00000361704:p.Ala129Ser					CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.A136S|CTPS_uc001cgl.3_Missense_Mutation_p.A129S|CTPS_uc010ojq.1_5'Flank	p.A129S	NM_001905	NP_001896	P17812	PYRG1_HUMAN			4	893	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	129						Missense_Mutation	SNP	ENST00000372621.4	37	c.385G>T	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634558	0.87660	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.48201	0.82;0.82	6.03	6.03	0.97812	CTP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.49256	1.55	0.80722	D	1	B;P	0.48589	0.174;0.912	P;P	0.51297	0.584;0.665	T	0.53129	-0.8482	10	0.49607	T	0.09	.	19.1206	0.93362	0.0:0.0:1.0:0.0	.	136;129	B7Z9C4;P17812	.;PYRG1_HUMAN	S	129;136;129	ENSP00000361704:A129S;ENSP00000361699:A129S	ENSP00000361699:A129S	A	+	1	0	CTPS	41225678	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	9.444000	0.97578	2.861000	0.98227	0.655000	0.94253	GCG		0.433	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		22	55	1	0	7.07758e-08	0.004656	8.94884e-08	22	55				
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53073948G>A	ENST00000361314.4	+	3	453	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	139					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.E139K(2)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTCTGGGAAGGAGCCCACCTG	0.552																																							uc001cue.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(415-417)GAG>AAG		glutathione peroxidase 7 precursor	Glutathione(DB00143)						71.0	74.0	73.0					1																	53073948		2203	4300	6503	SO:0001583	missense	2882				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr1:53073948G>A	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.415G>A	1.37:g.53073948G>A	ENSP00000354677:p.Glu139Lys						p.E139K	NM_015696	NP_056511	Q96SL4	GPX7_HUMAN			3	454	+			139					O95337|Q5T501	Missense_Mutation	SNP	ENST00000361314.4	37	c.415G>A	CCDS569.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113950	0.56398	.	.	ENSG00000116157	ENST00000361314	T	0.22134	1.97	5.59	5.59	0.84812	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.45744	1.44	0.80722	D	1	P	0.36483	0.555	B	0.35278	0.199	T	0.02238	-1.1190	10	0.21014	T	0.42	-34.896	19.5934	0.95525	0.0:0.0:1.0:0.0	.	139	Q96SL4	GPX7_HUMAN	K	139	ENSP00000354677:E139K	ENSP00000354677:E139K	E	+	1	0	GPX7	52846536	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	9.308000	0.96247	2.635000	0.89317	0.467000	0.42956	GAG		0.552	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696		42	107	0	0	0	0.002522	0	42	107				
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53676835G>T	ENST00000371486.3	+	4	2004	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	497					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G497C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTCAAGCACGGCCGCACTGA	0.617																																							uc001cvb.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1489-1491)GGC>TGC		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						37.0	34.0	35.0					1																	53676835		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676835G>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1489G>T	1.37:g.53676835G>T	ENSP00000360541:p.Gly497Cys						p.G497C	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	2004	+			497			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1489G>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665620	0.88251	.	.	ENSG00000157184	ENST00000371486	D	0.99571	-6.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96998	0.9727	10	0.87932	D	0	-25.7272	20.0203	0.97492	0.0:0.0:1.0:0.0	.	497	P23786	CPT2_HUMAN	C	497	ENSP00000360541:G497C	ENSP00000360541:G497C	G	+	1	0	CPT2	53449423	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.730000	0.93505	0.655000	0.94253	GGC		0.617	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		9	33	1	0	3.07112e-06	0.000978	3.64235e-06	9	33				
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	T	A	rs535166958		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:62675610T>A	ENST00000498273.1	+	4	1459	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.							p.D388E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGCTGGATGAAGAGGCCT	0.488																																							uc001dae.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1162-1164)GAT>GAA		LINE-1 type transposase domain containing 1							65.0	72.0	70.0					1																	62675610		2203	4299	6502	SO:0001583	missense	54596							g.chr1:62675610T>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1164T>A	1.37:g.62675610T>A	ENSP00000419901:p.Asp388Glu						p.D388E	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			4	1466	+			388			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1164T>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	4.331	0.060774	0.08339	.	.	ENSG00000240563	ENST00000498273	T	0.10668	2.85	3.08	-6.16	0.02098	.	.	.	.	.	T	0.02267	0.0070	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36286	-0.9754	9	0.02654	T	1	.	2.0107	0.03487	0.2962:0.1434:0.4075:0.1528	.	388	Q5T7N2	LITD1_HUMAN	E	388	ENSP00000419901:D388E	ENSP00000419901:D388E	D	+	3	2	L1TD1	62448198	0.004000	0.15560	0.000000	0.03702	0.217000	0.24651	0.148000	0.16224	-1.596000	0.01611	-0.464000	0.05259	GAT		0.488	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		31	79	0	0	0	0.009535	0	31	79				
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:67155929A>T	ENST00000371037.4	+	17	1577	c.1500A>T	c.(1498-1500)ttA>ttT	p.L500F	SGIP1_ENST00000371036.3_Missense_Mutation_p.L300F|SGIP1_ENST00000371035.3_Missense_Mutation_p.L290F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L301F|SGIP1_ENST00000237247.6_Missense_Mutation_p.L531F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	500					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.L301F(2)|p.L500F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGCACCCTTAGCGCGGGCTG	0.463																																							uc001dcr.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(1498-1500)TTA>TTT		SH3-domain GRB2-like (endophilin) interacting							164.0	158.0	160.0					1																	67155929		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155929A>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1500A>T	1.37:g.67155929A>T	ENSP00000360076:p.Leu500Phe					SGIP1_uc010opd.1_Missense_Mutation_p.L100F|SGIP1_uc001dcs.2_Missense_Mutation_p.L100F|SGIP1_uc001dct.2_Missense_Mutation_p.L100F|SGIP1_uc009wat.2_Missense_Mutation_p.L294F	p.L500F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			17	1717	+			500					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1500A>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441931	0.83993	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75	6.04	-3.37	0.04898	.	0.000000	0.85682	D	0.000000	T	0.05731	0.0150	M	0.75777	2.31	0.41040	D	0.98522	D;D;D;D	0.76494	0.999;0.995;0.995;0.999	D;D;D;D	0.80764	0.994;0.979;0.979;0.994	T	0.44003	-0.9356	10	0.39692	T	0.17	-13.6411	1.109	0.01700	0.4128:0.1922:0.1151:0.2799	.	530;100;290;500	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	F	531;301;290;530;503;300;500	ENSP00000237247:L531F;ENSP00000360078:L301F;ENSP00000360074:L290F;ENSP00000360075:L300F;ENSP00000360076:L500F	ENSP00000237247:L531F	L	+	3	2	SGIP1	66928517	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.280000	0.33202	-0.059000	0.13154	0.459000	0.35465	TTA		0.463	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		69	170	0	0	0	0.00361	0	69	170				
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:77987585G>T	ENST00000354567.2	+	12	1648	c.1385G>T	c.(1384-1386)gGc>gTc	p.G462V	AK5_ENST00000344720.5_Missense_Mutation_p.G436V	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	462	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.G462V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGATTGACGGCTATCCTCGG	0.577																																							uc001dhn.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1384-1386)GGC>GTC		adenylate kinase 5 isoform 1							51.0	52.0	52.0					1																	77987585		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77987585G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1385G>T	1.37:g.77987585G>T	ENSP00000346577:p.Gly462Val					AK5_uc001dho.2_Missense_Mutation_p.G436V	p.G462V	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			12	1642	+			462			AMP (By similarity).		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1385G>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809909	0.90707	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	D;D	0.84944	-1.92;-1.92	4.76	4.76	0.60689	.	0.080797	0.47852	D	0.000214	D	0.94909	0.8354	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96701	0.9518	10	0.87932	D	0	-18.129	16.9143	0.86147	0.0:0.0:1.0:0.0	.	462	Q9Y6K8	KAD5_HUMAN	V	462;436	ENSP00000346577:G462V;ENSP00000341430:G436V	ENSP00000341430:G436V	G	+	2	0	AK5	77760173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.085000	0.76875	2.343000	0.79666	0.650000	0.86243	GGC		0.577	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		10	30	1	0	1.08611e-07	0.000978	1.36454e-07	10	30				
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:78047770C>A	ENST00000370801.3	-	7	2161	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	ZZZ3_ENST00000370798.1_Missense_Mutation_p.L68F|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L562F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CGATCTCAGGCAATTGAACAA	0.343																																							uc001dhq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1684-1686)TTG>TTT		zinc finger, ZZ-type containing 3							96.0	109.0	105.0					1																	78047770		2187	4299	6486	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78047770C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1686G>T	1.37:g.78047770C>A	ENSP00000359837:p.Leu562Phe					ZZZ3_uc001dhr.2_Missense_Mutation_p.L68F|ZZZ3_uc001dhp.2_Missense_Mutation_p.L562F	p.L562F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			7	2162	-			562					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1686G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412692	0.62511	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.33	0.993	0.19825	.	0.000000	0.64402	D	0.000004	T	0.56529	0.1991	M	0.62723	1.935	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.58640	-0.7601	9	0.72032	D	0.01	.	5.981	0.19407	0.0:0.5198:0.1335:0.3468	.	68;562;562	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	F	562;68	.	ENSP00000359834:L68F	L	-	3	2	ZZZ3	77820358	0.997000	0.39634	0.997000	0.53966	0.974000	0.67602	0.415000	0.21181	-0.015000	0.14150	-0.345000	0.07892	TTG		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		33	123	1	0	4.32679e-17	0.006999	6.8058e-17	33	123				
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:87012868C>A	ENST00000370563.3	+	1	108	c.66C>A	c.(64-66)tcC>tcA	p.S22S	CLCA4_ENST00000263723.5_5'Flank	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.S22S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATACTTCCTTCATTAAGC	0.363																																							uc009wcs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(64-66)TCC>TCA		chloride channel accessory 4							178.0	167.0	171.0					1																	87012868		1833	4090	5923	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87012868C>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.66C>A	1.37:g.87012868C>A						CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	p.S22S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	1	110	+		Lung NSC(277;0.238)	22					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.66C>A	CCDS41355.1																																																																																				0.363	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		29	74	1	0	1.75199e-13	0.007291	2.55893e-13	29	74				
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:97278637A>T	ENST00000426398.2	+	13	1484	c.1441A>T	c.(1441-1443)Act>Tct	p.T481S	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.T486S|PTBP2_ENST00000394184.3_Missense_Mutation_p.T497S|PTBP2_ENST00000370197.1_Missense_Mutation_p.T486S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Missense_Mutation_p.T481S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACTGGGGGCACTGTGAAAGC	0.333																																							uc001drq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1441-1443)ACT>TCT		polypyrimidine tract binding protein 2							85.0	91.0	89.0					1																	97278637		2203	4299	6502	SO:0001583	missense	58155						nucleotide binding	g.chr1:97278637A>T	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1441A>T	1.37:g.97278637A>T	ENSP00000412788:p.Thr481Ser					PTBP2_uc001drn.2_Missense_Mutation_p.T486S|PTBP2_uc001dro.2_Missense_Mutation_p.T481S|PTBP2_uc010otz.1_Missense_Mutation_p.T497S|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.T429S|PTBP2_uc001drr.2_Missense_Mutation_p.T486S|PTBP2_uc010oua.1_Missense_Mutation_p.T489S|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.T100S|PTBP2_uc001drt.2_Missense_Mutation_p.T100S	p.T481S	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	13	1687	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	481			RRM 4.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1441A>T	CCDS754.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452392	0.43531	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043983	0.85682	D	0.000000	T	0.04907	0.0132	L	0.46670	1.46	0.80722	D	1	B;B;B;B;B;B;B	0.27264	0.002;0.173;0.037;0.143;0.002;0.002;0.002	B;B;B;B;B;B;B	0.31547	0.014;0.132;0.025;0.051;0.014;0.008;0.005	T	0.33523	-0.9865	10	0.24483	T	0.36	-7.4743	15.8942	0.79323	1.0:0.0:0.0:0.0	.	489;497;153;486;481;481;486	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	S	481;153;486;486;481;497	ENSP00000236228:T481S;ENSP00000359217:T486S;ENSP00000359216:T486S;ENSP00000412788:T481S;ENSP00000377738:T497S	ENSP00000236228:T481S	T	+	1	0	PTBP2	97051225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.107000	0.77047	2.206000	0.71126	0.528000	0.53228	ACT		0.333	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			19	58	0	0	0	0.010504	0	19	58				
PLPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:99771388A>G	ENST00000370185.3	+	7	1611	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	LPPR4_ENST00000457765.1_Missense_Mutation_p.T314A|LPPR4_ENST00000370184.1_Missense_Mutation_p.T214A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		372					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.T372A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATTGCTCATACAGAAGGCAT	0.468																																							uc001dse.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1114-1116)ACA>GCA		plasticity related gene 1							112.0	108.0	109.0					1																	99771388		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771388A>G																												ENST00000370185.3:c.1114A>G	1.37:g.99771388A>G	ENSP00000359204:p.Thr372Ala					LPPR4_uc010oue.1_Missense_Mutation_p.T314A	p.T372A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1220	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	372					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1114A>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.592227	0.00864	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.21191	2.59;2.62;2.02	5.71	3.21	0.36854	.	0.986990	0.08290	N	0.968660	T	0.02848	0.0085	N	0.08118	0	0.19575	N	0.999968	B;B	0.22146	0.065;0.005	B;B	0.24541	0.054;0.009	T	0.45600	-0.9250	9	.	.	.	-11.8429	3.9392	0.09319	0.4602:0.352:0.0705:0.1173	.	314;372	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	A	372;314;372;214	ENSP00000359204:T372A;ENSP00000394913:T314A;ENSP00000359203:T214A	.	T	+	1	0	RP4-788L13.1	99543976	0.997000	0.39634	0.918000	0.36340	0.338000	0.28826	1.333000	0.33816	0.951000	0.37770	0.528000	0.53228	ACA		0.468	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			40	91	0	0	0	0.002522	0	40	91				
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:101190255G>T	ENST00000294728.2	+	4	838	c.737G>T	c.(736-738)tGt>tTt	p.C246F	VCAM1_ENST00000370115.1_Missense_Mutation_p.C246F|VCAM1_ENST00000370119.4_Missense_Mutation_p.C184F|VCAM1_ENST00000347652.2_Missense_Mutation_p.C246F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	246	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCATGACCTGTTCCAGCGAG	0.413																																							uc001dti.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(736-738)TGT>TTT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						97.0	90.0	92.0					1																	101190255		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190255G>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.737G>T	1.37:g.101190255G>T	ENSP00000294728:p.Cys246Phe					VCAM1_uc001dtj.2_Missense_Mutation_p.C246F|VCAM1_uc010ouj.1_Missense_Mutation_p.C184F	p.C246F	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	857	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	246			Ig-like C2-type 3.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.737G>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.348585	0.41599	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.38	5.38	0.77491	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98248	0.9420	H	0.97214	3.96	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.965	D;D;P	0.97110	1.0;0.999;0.819	D	0.99078	1.0836	10	0.87932	D	0	-14.6455	14.9889	0.71371	0.0:0.0:1.0:0.0	.	184;246;246	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	F	184;246;246;246	ENSP00000359137:C184F;ENSP00000304611:C246F;ENSP00000294728:C246F;ENSP00000359133:C246F	ENSP00000294728:C246F	C	+	2	0	VCAM1	100962843	0.998000	0.40836	0.123000	0.21794	0.269000	0.26545	5.344000	0.65981	2.692000	0.91855	0.651000	0.88453	TGT		0.413	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		11	35	1	0	3.86212e-05	0.008291	4.4043e-05	11	35				
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:103488398T>C	ENST00000370096.3	-	8	1457	c.1145A>G	c.(1144-1146)gAt>gGt	p.D382G	COL11A1_ENST00000353414.4_Missense_Mutation_p.D343G|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.D394G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				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.D382G(2)|p.D394G(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)		TTCATAAAAATCATATTCGCC	0.368																																							uc001dul.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1144-1146)GAT>GGT		alpha 1 type XI collagen isoform A							74.0	75.0	75.0					1																	103488398		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.chr1:103488398T>C	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.1145A>G	1.37:g.103488398T>C	ENSP00000359114:p.Asp382Gly					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D394G|COL11A1_uc001dun.2_Missense_Mutation_p.D343G|COL11A1_uc009weh.2_Intron	p.D382G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1463	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	382			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1145A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247424	0.39697	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.89485	-2.49;-0.55;-2.52;-0.57	5.26	5.26	0.73747	.	0.168371	0.51477	D	0.000095	T	0.79534	0.4462	L	0.56199	1.76	0.42323	D	0.992264	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.76542	-0.2921	10	0.28530	T	0.3	.	13.7507	0.62906	0.0:0.0:0.0:1.0	.	343;394;382	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	G	382;394;343;394	ENSP00000359114:D382G;ENSP00000351163:D394G;ENSP00000302551:D343G;ENSP00000408640:D394G	ENSP00000302551:D343G	D	-	2	0	COL11A1	103260986	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	5.257000	0.65473	1.974000	0.57490	0.523000	0.50628	GAT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	81	0	0	0	0.00278	0	24	81				
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	G	A	rs371789370		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:118539080G>A	ENST00000336338.5	-	34	5031	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R1656*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACTGTCTCGAAGAAGTTCC	0.358																																							uc001ehk.2		NA																	2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4966-4968)CGA>TGA		sperm associated antigen 17							79.0	80.0	79.0					1																	118539080		2203	4300	6503	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539080G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4966C>T	1.37:g.118539080G>A	ENSP00000337804:p.Arg1656*						p.R1656*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	34	5034	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1656					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.4966C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159248	0.94686	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	.	.	.	5.2	4.28	0.50868	.	0.114970	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.235	0.65919	0.0:0.0:0.8497:0.1503	.	.	.	.	X	1656;136	.	ENSP00000337804:R1656X	R	-	1	2	SPAG17	118340603	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	4.165000	0.58196	1.401000	0.46761	0.655000	0.94253	CGA		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	43	0	0	0	0.004482	0	8	43				
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:150470105G>A	ENST00000369064.3	+	10	1154	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TARS2_ENST00000606933.1_Missense_Mutation_p.D292N|TARS2_ENST00000369054.2_Missense_Mutation_p.D244N|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	374					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.D374N(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTATCAGGAAGACATGTTTGC	0.547																																							uc001euq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1120-1122)GAC>AAC		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						79.0	70.0	73.0					1																	150470105		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150470105G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1120G>A	1.37:g.150470105G>A	ENSP00000358060:p.Asp374Asn					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.D292N|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.D244N	p.D374N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1127	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		374					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1120G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	3.545	-0.092947	0.07053	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	T;T;T	0.68025	-0.3;-0.3;-0.3	5.53	4.61	0.57282	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.110757	0.64402	D	0.000010	T	0.17323	0.0416	N	0.10629	0.01	0.80722	D	1	B;B;B	0.30068	0.267;0.015;0.004	B;B;B	0.27608	0.081;0.022;0.01	T	0.33650	-0.9860	10	0.02654	T	1	-10.1796	6.2395	0.20783	0.1418:0.3104:0.5478:0.0	.	244;99;374	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	N	244;374;99;99	ENSP00000358050:D244N;ENSP00000358060:D374N;ENSP00000358047:D99N	ENSP00000358047:D99N	D	+	1	0	TARS2	148736729	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	1.836000	0.39191	1.550000	0.49438	0.655000	0.94253	GAC		0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		11	121	0	0	0	0.008291	0	11	121				
TCHH	7062	broad.mit.edu	37	1	152082789	152082789	+	Missense_Mutation	SNP	C	C	G	rs367837898		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152082789C>G	ENST00000368804.1	-	2	2903	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	968	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.Q968H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttccttctgctgcagct	0.567																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2902-2904)CAG>CAC		trichohyalin							174.0	176.0	175.0					1																	152082789		1896	4126	6022	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082789C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2904G>C	1.37:g.152082789C>G	ENSP00000357794:p.Gln968His					TCHH_uc009wne.1_Missense_Mutation_p.Q968H	p.Q968H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		968			10 X 30 AA tandem repeats.|4-3.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2904G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.212	0.800583	0.16397	.	.	ENSG00000159450	ENST00000368804	T	0.05199	3.48	2.94	0.898	0.19264	.	.	.	.	.	T	0.02342	0.0072	N	0.24115	0.695	0.20489	N	0.999892	D	0.61080	0.989	P	0.50708	0.648	T	0.44877	-0.9299	9	0.44086	T	0.13	.	6.362	0.21433	0.0:0.7209:0.0:0.2791	.	968	Q07283	TRHY_HUMAN	H	968	ENSP00000357794:Q968H	ENSP00000357794:Q968H	Q	-	3	2	TCHH	150349413	0.000000	0.05858	0.007000	0.13788	0.176000	0.22953	-2.010000	0.01454	0.175000	0.19841	0.462000	0.41574	CAG		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		29	868	0	0	0	0.008361	0	29	868				
FLG	2312	broad.mit.edu	37	1	152276900	152276900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152276900G>T	ENST00000368799.1	-	3	10497	c.10462C>A	c.(10462-10464)Caa>Aaa	p.Q3488K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3488	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q3488K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTGGCA	0.557									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10462-10464)CAA>AAA		filaggrin							307.0	296.0	299.0					1																	152276900		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276900G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10462C>A	1.37:g.152276900G>T	ENSP00000357789:p.Gln3488Lys						p.Q3488K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10498	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3488			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10462C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540720	0.27563	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	3.05	2.08	0.27032	.	.	.	.	.	T	0.01156	0.0038	M	0.64997	1.995	0.09310	N	1	P	0.50443	0.935	P	0.52066	0.689	T	0.28681	-1.0036	9	0.07175	T	0.84	.	8.0877	0.30782	0.0:0.2527:0.7473:0.0	.	3488	P20930	FILA_HUMAN	K	3488	ENSP00000357789:Q3488K	ENSP00000357789:Q3488K	Q	-	1	0	FLG	150543524	0.007000	0.16637	0.001000	0.08648	0.070000	0.16714	0.302000	0.19192	0.361000	0.24292	0.398000	0.26397	CAA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	913	1	0	3.41278e-10	0.00499	4.5995e-10	17	913				
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882470C>T	ENST00000368764.3	+	2	261	c.197C>T	c.(196-198)gCt>gTt	p.A66V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.A66V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATGACTGCTGTAAAGGGA	0.542																																							uc001fau.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(196-198)GCT>GTT		involucrin							76.0	71.0	73.0					1																	152882470		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882470C>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.197C>T	1.37:g.152882470C>T	ENSP00000357753:p.Ala66Val						p.A66V	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	243	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.197C>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	1.963	-0.438420	0.04636	.	.	ENSG00000163207	ENST00000368764	T	0.08807	3.05	5.19	-2.14	0.07123	Involucrin, N-terminal (1);	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.16722	0.016	T	0.46119	-0.9214	9	0.19590	T	0.45	3.4028	10.1948	0.43047	0.0:0.5476:0.0:0.4524	.	66	P07476	INVO_HUMAN	V	66	ENSP00000357753:A66V	ENSP00000357753:A66V	A	+	2	0	IVL	151149094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.658000	0.05366	-1.149000	0.01842	GCT		0.542	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		66	89	0	0	0	0.00361	0	66	89				
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882785G>T	ENST00000368764.3	+	2	576	c.512G>T	c.(511-513)gGa>gTa	p.G171V	IVL_ENST00000392667.2_Missense_Mutation_p.G25V			P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.G171V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggagggacagctgaag	0.622																																							uc001fau.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(511-513)GGA>GTA		involucrin							26.0	28.0	28.0					1																	152882785		2203	4299	6502	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882785G>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.512G>T	1.37:g.152882785G>T	ENSP00000357753:p.Gly171Val						p.G171V	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	558	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		171			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|2.		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.512G>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	4.248	0.044966	0.08196	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.14266	2.85;2.52	2.98	-5.96	0.02234	.	.	.	.	.	T	0.02848	0.0085	L	0.58101	1.795	0.09310	N	0.999999	B	0.25850	0.136	B	0.27170	0.077	T	0.34030	-0.9845	9	0.30854	T	0.27	.	1.4671	0.02408	0.1666:0.1204:0.2547:0.4583	.	171	P07476	INVO_HUMAN	V	171;25	ENSP00000357753:G171V;ENSP00000376435:G25V	ENSP00000357753:G171V	G	+	2	0	IVL	151149409	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.172000	0.09868	-2.141000	0.00805	0.205000	0.17691	GGA		0.622	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		20	19	1	0	8.00594e-06	0.007413	9.43841e-06	20	19				
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:153303330C>A	ENST00000359650.5	-	9	1099	c.1035G>T	c.(1033-1035)ctG>ctT	p.L345L	PGLYRP4_ENST00000368739.3_Silent_p.L341L|RNU6-160P_ENST00000384591.1_RNA	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	345					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L345L(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGCCCACCAGCAGGTAGT	0.552																																							uc001fbo.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(1033-1035)CTG>CTT		peptidoglycan recognition protein-I-beta							122.0	113.0	116.0					1																	153303330		2203	4300	6503	SO:0001819	synonymous_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153303330C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.1035G>T	1.37:g.153303330C>A						PGLYRP4_uc001fbp.2_Silent_p.L341L	p.L345L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		9	1100	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		345					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	c.1035G>T	CCDS30871.1																																																																																				0.552	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		63	152	1	0	2.50483e-33	0.00361	4.46055e-33	63	152				
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	G	A	rs540504685		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:155851156G>A	ENST00000368324.4	+	4	1406	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SYT11_ENST00000539162.1_Missense_Mutation_p.D78N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.D385N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TATCGACTTCGATCGCACCAC	0.542																																							uc001fmg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1153-1155)GAT>AAT		synaptotagmin XI							219.0	227.0	224.0					1																	155851156		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851156G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1153G>A	1.37:g.155851156G>A	ENSP00000357307:p.Asp385Asn					SYT11_uc010pgq.1_Missense_Mutation_p.D78N	p.D385N	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1416	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		385			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1153G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483746	0.96307	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.76709	-1.04;-1.04	5.27	5.27	0.74061	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89471	0.3743	10	0.87932	D	0	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	385	Q9BT88	SYT11_HUMAN	N	385;78	ENSP00000357307:D385N;ENSP00000441657:D78N	ENSP00000357307:D385N	D	+	1	0	SYT11	154117780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.657000	0.98554	2.748000	0.94277	0.655000	0.94253	GAT		0.542	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		38	776	0	0	0	0.00361	0	38	776				
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:157514076G>T	ENST00000361835.3	-	5	977	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	FCRL5_ENST00000368191.3_Missense_Mutation_p.P189T|FCRL5_ENST00000368189.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368190.3_Missense_Mutation_p.P274T|FCRL5_ENST00000356953.4_Missense_Mutation_p.P274T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274					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.P274T(2)		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)				CAGGATCTCGGGCTGTCAGAT	0.507																																							uc001fqu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(820-822)CCG>ACG		Fc receptor-like 5							146.0	143.0	144.0					1																	157514076		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514076G>T	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.820C>A	1.37:g.157514076G>T	ENSP00000354691:p.Pro274Thr					FCRL5_uc009wsm.2_Missense_Mutation_p.P274T|FCRL5_uc010phv.1_Missense_Mutation_p.P274T|FCRL5_uc010phw.1_Missense_Mutation_p.P189T|FCRL5_uc001fqv.1_Missense_Mutation_p.P274T|FCRL5_uc010phx.1_Missense_Mutation_p.P25T	p.P274T	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	978	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	274			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.820C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078393	0.07184	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.49139	0.79;0.8;0.8;1.07;1.15	3.89	-4.68	0.03309	.	.	.	.	.	T	0.11836	0.0288	L	0.33189	0.99	0.09310	N	1	B;B;B;B;B;B	0.23185	0.077;0.071;0.027;0.034;0.002;0.081	B;B;B;B;B;B	0.30646	0.118;0.05;0.059;0.083;0.013;0.072	T	0.33111	-0.9881	9	0.18276	T	0.48	.	5.668	0.17707	0.1726:0.0:0.363:0.4644	.	305;189;274;274;274;274	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	T	274;274;274;189;274	ENSP00000354691:P274T;ENSP00000349434:P274T;ENSP00000357173:P274T;ENSP00000357174:P189T;ENSP00000357172:P274T	ENSP00000349434:P274T	P	-	1	0	FCRL5	155780700	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	-1.594000	0.01615	-1.119000	0.02030	CCG		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		168	111	1	0	1.52288e-82	0.00361	2.90376e-82	168	111				
SPTA1	6708	broad.mit.edu	37	1	158585087	158585087	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:158585087A>T	ENST00000368147.4	-	48	6887	c.6707T>A	c.(6706-6708)aTt>aAt	p.I2236N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2236					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAATCCAATGGTGCTGTA	0.532																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6706-6708)ATT>AAT		spectrin, alpha, erythrocytic 1							179.0	183.0	182.0					1																	158585087		2082	4229	6311	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585087A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6707T>A	1.37:g.158585087A>T	ENSP00000357129:p.Ile2236Asn						p.I2236N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6906	-	all_hematologic(112;0.0378)		2236			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6707T>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576873	0.86645	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.47528	0.84;0.84	5.54	5.54	0.83059	.	0.000000	0.32578	N	0.005913	T	0.51822	0.1697	L	0.57536	1.79	0.46521	D	0.999082	D	0.69078	0.997	D	0.72982	0.979	T	0.46843	-0.9162	10	0.17832	T	0.49	.	14.6598	0.68861	1.0:0.0:0.0:0.0	.	2236	P02549	SPTA1_HUMAN	N	2236;2233	ENSP00000357130:I2236N;ENSP00000357129:I2233N	ENSP00000357129:I2233N	I	-	2	0	SPTA1	156851711	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.504000	0.90512	2.326000	0.78906	0.533000	0.62120	ATT		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	293	0	0	0	0.001984	0	6	293				
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160104960G>A	ENST00000361216.3	+	15	2079	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	664					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.G664S(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGTGGTGCACGGCTCTGACCT	0.597																																							uc001fvc.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1990-1992)GGC>AGC		Na+/K+ -ATPase alpha 2 subunit proprotein							109.0	79.0	89.0					1																	160104960		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160104960G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1990G>A	1.37:g.160104960G>A	ENSP00000354490:p.Gly664Ser					ATP1A2_uc001fvb.2_Missense_Mutation_p.G664S|ATP1A2_uc001fvd.2_Missense_Mutation_p.G400S	p.G664S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		15	2122	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		664			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1990G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289086	0.95517	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.99292	-5.7;-5.7	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.054309	0.64402	D	0.000001	D	0.99423	0.9796	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3466	0.83134	0.0:0.0:1.0:0.0	.	564;664	F5GXJ7;P50993	.;AT1A2_HUMAN	S	664;664;367	ENSP00000354490:G664S;ENSP00000376066:G664S	ENSP00000354490:G664S	G	+	1	0	ATP1A2	158371584	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.576000	0.98192	2.440000	0.82611	0.511000	0.50034	GGC		0.597	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		22	104	0	0	0	0.002299	0	22	104				
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160604515G>T	ENST00000302035.6	-	3	937	c.588C>A	c.(586-588)ctC>ctA	p.L196L	SLAMF1_ENST00000235739.5_Silent_p.L196L|SLAMF1_ENST00000355199.3_Silent_p.L196L|SLAMF1_ENST00000538290.1_Silent_p.L196L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	196	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L196L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCCGAGGGTGAGGGACAGGA	0.602																																							uc001fwl.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(586-588)CTC>CTA		signaling lymphocytic activation molecule family							137.0	127.0	130.0					1																	160604515		2203	4300	6503	SO:0001819	synonymous_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604515G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.588C>A	1.37:g.160604515G>T						SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA	p.L196L	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	934	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		196			Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	37	c.588C>A	CCDS1207.1																																																																																				0.602	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			118	59	1	0	1.39881e-40	0.00361	2.56809e-40	118	59				
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:163317609G>C	ENST00000271452.3	+	12	1284	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	NUF2_ENST00000367900.3_Missense_Mutation_p.K335N|NUF2_ENST00000524800.1_Missense_Mutation_p.K288N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.K335N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAAATTGAAGACTGAAGAAA	0.333																																							uc001gcq.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(1)	4						c.(1003-1005)AAG>AAC		NUF2, NDC80 kinetochore complex component							76.0	79.0	78.0					1																	163317609		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317609G>C	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1005G>C	1.37:g.163317609G>C	ENSP00000271452:p.Lys335Asn					NUF2_uc001gcr.1_Missense_Mutation_p.K335N|NUF2_uc009wvc.1_Missense_Mutation_p.K288N	p.K335N	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			12	1305	+	all_hematologic(923;0.101)		335			Interaction with the N-terminus of NDC80.|Potential.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1005G>C	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012775	0.35511	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.36157	1.27;1.48;1.48	6.03	4.06	0.47325	.	0.235967	0.49305	D	0.000144	T	0.13586	0.0329	L	0.51422	1.61	0.37680	D	0.923447	B;B	0.29188	0.236;0.236	B;B	0.25884	0.064;0.064	T	0.07635	-1.0762	9	0.21014	T	0.42	-30.0105	9.0665	0.36467	0.079:0.1482:0.7728:0.0	.	288;335	E9PQC4;Q9BZD4	.;NUF2_HUMAN	N	288;335;335	ENSP00000436888:K288N;ENSP00000356875:K335N;ENSP00000271452:K335N	ENSP00000271452:K335N	K	+	3	2	NUF2	161584233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.541000	0.49316	0.655000	0.94253	AAG		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		6	47	0	0	0	0.001984	0	6	47				
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:169519136T>A	ENST00000367797.3	-	10	1715	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Missense_Mutation_p.Y505F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	505	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Y505F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCACTGTAGTATGGTCTTGT	0.443																																							uc001ggg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1513-1515)TAC>TTC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						230.0	202.0	212.0					1																	169519136		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519136T>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1514A>T	1.37:g.169519136T>A	ENSP00000356771:p.Tyr505Phe					F5_uc010plr.1_RNA	p.Y505F	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1659	-	all_hematologic(923;0.208)		505			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1514A>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124589	0.94429	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98296	-4.85;-4.85	5.71	5.71	0.89125	Cupredoxin (2);	0.124850	0.56097	D	0.000028	D	0.99230	0.9732	H	0.94345	3.525	0.39778	D	0.972257	D	0.76494	0.999	D	0.80764	0.994	D	0.99078	1.0836	9	0.87932	D	0	-7.0711	15.9668	0.79979	0.0:0.0:0.0:1.0	.	505	P12259	FA5_HUMAN	F	505	ENSP00000356771:Y505F;ENSP00000356770:Y505F	ENSP00000356770:Y505F	Y	-	2	0	F5	167785760	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.661000	0.83786	2.177000	0.69029	0.533000	0.62120	TAC		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		29	136	0	0	0	0.007291	0	29	136				
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:175365895A>T	ENST00000367674.2	-	5	1733	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	TNR_ENST00000263525.2_Missense_Mutation_p.I342N			Q92752	TENR_HUMAN	tenascin R	342	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.I342N(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCAGCTCAATGGACCTGTC	0.607																																							uc001gkp.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1024-1026)ATT>AAT		tenascin R precursor							75.0	79.0	78.0					1																	175365895		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365895A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1025T>A	1.37:g.175365895A>T	ENSP00000356646:p.Ile342Asn					TNR_uc009wwu.1_Missense_Mutation_p.I342N|TNR_uc010pmz.1_Intron	p.I342N	NM_003285	NP_003276	Q92752	TENR_HUMAN			3	1106	-	Renal(580;0.146)		342			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1025T>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.926520|4.926520	0.92319|0.92319	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.60171	.|0.21;0.21	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.200346	.|0.42821	.|D	.|0.000648	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.76727|0.76727	2.345|2.345	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.43788	.|0.817	.|P	.|0.56514	.|0.8	T|T	0.76189|0.76189	-0.3050|-0.3050	5|10	.|0.87932	.|D	.|0	.|.	16.0684|16.0684	0.80907|0.80907	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|342	.|Q92752	.|TENR_HUMAN	Q|N	66|342	.|ENSP00000356646:I342N;ENSP00000263525:I342N	.|ENSP00000263525:I342N	H|I	-|-	3|2	2|0	TNR|TNR	173632518|173632518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.822000|8.822000	0.92013|0.92013	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	CAT|ATT		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		20	145	0	0	0	0.010504	0	20	145				
PAPPA2	60676	broad.mit.edu	37	1	176563917	176563917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176563917G>T	ENST00000367662.3	+	3	2341	c.1177G>T	c.(1177-1179)Ggt>Tgt	p.G393C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G393C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	393					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.G393C(2)		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						AGACCAGTCTGGTCCCCTGAA	0.592																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1177-1179)GGT>TGT		pappalysin 2 isoform 1							90.0	90.0	90.0					1																	176563917		2061	4198	6259	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563917G>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.1177G>T	1.37:g.176563917G>T	ENSP00000356634:p.Gly393Cys					PAPPA2_uc001gky.1_Missense_Mutation_p.G393C|PAPPA2_uc009www.2_RNA	p.G393C	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2341	+			393					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1177G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158420	0.57368	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.76186	-1.0;-1.0	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.111523	0.64402	D	0.000009	D	0.88194	0.6371	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89713	0.3913	10	0.87932	D	0	-19.1401	18.8948	0.92419	0.0:0.0:1.0:0.0	.	393;393	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	393	ENSP00000356634:G393C;ENSP00000356633:G393C	ENSP00000356633:G393C	G	+	1	0	PAPPA2	174830540	1.000000	0.71417	0.872000	0.34217	0.125000	0.20455	6.616000	0.74205	2.555000	0.86185	0.650000	0.86243	GGT		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	243	1	0	1.6384e-10	0.001984	2.2182e-10	7	243				
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176659372A>T	ENST00000367662.3	+	5	3401	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K746I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	746	Metalloprotease.				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.K746I(4)		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						CATGTCTTTAAAGGAGTCAGT	0.547																																							uc001gkz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2236-2238)AAA>ATA		pappalysin 2 isoform 1							118.0	118.0	118.0					1																	176659372		2068	4235	6303	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659372A>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.2237A>T	1.37:g.176659372A>T	ENSP00000356634:p.Lys746Ile					PAPPA2_uc001gky.1_Missense_Mutation_p.K746I|PAPPA2_uc009www.2_RNA	p.K746I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3401	+			746			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2237A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101194	0.56183	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34275	4.64;1.37	5.19	5.19	0.71726	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.68952	2.095	0.42316	D	0.992235	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.63673	-0.6584	10	0.87932	D	0	-10.7837	14.7144	0.69257	1.0:0.0:0.0:0.0	.	746;746	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	I	746	ENSP00000356634:K746I;ENSP00000356633:K746I	ENSP00000356633:K746I	K	+	2	0	PAPPA2	174925995	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	6.249000	0.72427	1.939000	0.56221	0.460000	0.39030	AAA		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			48	267	0	0	0	0.00361	0	48	267				
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176709330G>T	ENST00000367662.3	+	14	5313	c.4149G>T	c.(4147-4149)caG>caT	p.Q1383H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1383					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.Q1383H(2)		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						ATCAGGGACAGAGGTACAAAC	0.458																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4147-4149)CAG>CAT		pappalysin 2 isoform 1							66.0	64.0	65.0					1																	176709330		1960	4156	6116	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709330G>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.4149G>T	1.37:g.176709330G>T	ENSP00000356634:p.Gln1383His					PAPPA2_uc009www.2_RNA	p.Q1383H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5313	+			1383					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4149G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148122	0.37923	.	.	ENSG00000116183	ENST00000367662	T	0.01838	4.61	5.91	2.6	0.31112	.	0.942175	0.08975	N	0.866673	T	0.04363	0.0120	M	0.74647	2.275	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.13019	-1.0525	10	0.51188	T	0.08	-12.5206	7.3469	0.26668	0.1628:0.3188:0.5185:0.0	.	1383	Q9BXP8	PAPP2_HUMAN	H	1383	ENSP00000356634:Q1383H	ENSP00000356634:Q1383H	Q	+	3	2	PAPPA2	174975953	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	1.934000	0.40163	0.836000	0.34901	-0.165000	0.13383	CAG		0.458	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	46	1	0	1.02788e-11	0.00499	1.4342e-11	17	46				
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176734888G>T	ENST00000367662.3	+	15	5402	c.4238G>T	c.(4237-4239)gGc>gTc	p.G1413V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1. {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.G1413V(2)		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						ACCTCTATAGGCCCAGGTCTC	0.522																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4237-4239)GGC>GTC		pappalysin 2 isoform 1							171.0	166.0	168.0					1																	176734888		2064	4211	6275	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734888G>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.4238G>T	1.37:g.176734888G>T	ENSP00000356634:p.Gly1413Val					PAPPA2_uc009www.2_RNA	p.G1413V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			15	5402	+			1413			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4238G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223826	0.22457	.	.	ENSG00000116183	ENST00000367662	T	0.01685	4.69	5.69	3.82	0.43975	Sushi/SCR/CCP (1);	0.436372	0.25875	N	0.027740	T	0.02533	0.0077	M	0.71581	2.175	0.80722	D	1	B	0.33549	0.417	B	0.29598	0.104	T	0.52946	-0.8507	10	0.29301	T	0.29	-10.8608	8.2001	0.31419	0.2386:0.0:0.7614:0.0	.	1413	Q9BXP8	PAPP2_HUMAN	V	1413	ENSP00000356634:G1413V	ENSP00000356634:G1413V	G	+	2	0	PAPPA2	175001511	0.922000	0.31269	0.927000	0.36925	0.518000	0.34316	1.693000	0.37742	1.413000	0.46997	0.655000	0.94253	GGC		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			83	267	1	0	1.20873e-29	0.00361	2.11439e-29	83	267				
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181686252A>T	ENST00000367573.2	+	11	1339	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I447F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I54F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I447F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I447F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	447					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.I447F(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCCAGTATCAAAAGTGC	0.512																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1339-1341)ATC>TTC		calcium channel, voltage-dependent, R type,							88.0	86.0	87.0					1																	181686252		1887	4115	6002	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181686252A>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1339A>T	1.37:g.181686252A>T	ENSP00000356545:p.Ile447Phe					CACNA1E_uc009wxs.2_Missense_Mutation_p.I354F	p.I447F	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			11	1504	+			447			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1339A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.549842	0.65311	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96774	-3.96;-3.96;-3.96;-3.94;-4.12;-3.96;-3.96	5.32	5.32	0.75619	.	0.587980	0.18719	N	0.133063	D	0.92446	0.7602	L	0.27053	0.805	0.58432	D	0.99999	P;P	0.44429	0.587;0.835	B;B	0.40066	0.318;0.318	D	0.92565	0.6061	10	0.59425	D	0.04	.	12.0632	0.53574	0.8565:0.1435:0.0:0.0	.	447;447	Q15878-2;Q15878-3	.;.	F	447;447;398;398;54;447;447	ENSP00000356542:I447F;ENSP00000434814:I447F;ENSP00000350183:I398F;ENSP00000351101:I398F;ENSP00000356539:I54F;ENSP00000353222:I447F;ENSP00000356545:I447F	ENSP00000350183:I398F	I	+	1	0	CACNA1E	179952875	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.091000	0.57700	2.129000	0.65627	0.533000	0.62120	ATC		0.512	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		27	139	0	0	0	0.002096	0	27	139				
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181708286A>T	ENST00000367573.2	+	25	3616	c.3616A>T	c.(3616-3618)Ata>Tta	p.I1206L	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1206L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1157L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I813L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1187L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1138L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1187L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1206					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.I1206L(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCAGATGATAGACCAAGG	0.532																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3616-3618)ATA>TTA		calcium channel, voltage-dependent, R type,							228.0	232.0	231.0					1																	181708286		2101	4228	6329	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708286A>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3616A>T	1.37:g.181708286A>T	ENSP00000356545:p.Ile1206Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.I1094L|CACNA1E_uc001gox.1_Missense_Mutation_p.I432L|CACNA1E_uc009wxt.2_Missense_Mutation_p.I432L	p.I1206L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			25	3781	+			1206			III.|Helical; Name=S2 of repeat III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3616A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616414	0.87359	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.01	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.62088	1.915	0.80722	D	1	P;P;B	0.45634	0.863;0.752;0.028	P;P;B	0.55455	0.776;0.499;0.035	D	0.97365	0.9972	10	0.59425	D	0.04	.	10.6097	0.45415	0.9227:0.0:0.0773:0.0	.	1187;1206;1206	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1206;1187;1157;1138;813;1187;1206	ENSP00000356542:I1206L;ENSP00000434814:I1187L;ENSP00000350183:I1157L;ENSP00000351101:I1138L;ENSP00000356539:I813L;ENSP00000353222:I1187L;ENSP00000356545:I1206L	ENSP00000350183:I1157L	I	+	1	0	CACNA1E	179974909	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.348000	0.79366	0.849000	0.35215	0.459000	0.35465	ATA		0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		51	233	0	0	0	0.00361	0	51	233				
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197074309A>C	ENST00000367409.4	-	18	4328	c.4072T>G	c.(4072-4074)Tgg>Ggg	p.W1358G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1358	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.W1358G(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCTTCTCCAATATCCCTGG	0.284																																							uc001gtu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(4072-4074)TGG>GGG		asp (abnormal spindle)-like, microcephaly							34.0	36.0	35.0					1																	197074309		1981	4163	6144	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074309A>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4072T>G	1.37:g.197074309A>C	ENSP00000356379:p.Trp1358Gly					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.W1358G	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4329	-			1358			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4072T>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776902	0.49786	.	.	ENSG00000066279	ENST00000367409	T	0.71222	-0.55	5.43	4.28	0.50868	.	0.084262	0.52532	N	0.000066	D	0.83626	0.5295	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84179	0.0438	10	0.51188	T	0.08	.	11.9814	0.53121	0.8548:0.1452:0.0:0.0	.	1358	Q8IZT6	ASPM_HUMAN	G	1358	ENSP00000356379:W1358G	ENSP00000356379:W1358G	W	-	1	0	ASPM	195340932	1.000000	0.71417	0.959000	0.39883	0.842000	0.47809	7.694000	0.84235	0.978000	0.38470	0.528000	0.53228	TGG		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	16	0	0	0	0.000602	0	5	16				
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	G	A	rs369775002		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197390141G>A	ENST00000367400.3	+	6	1318	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.E326K|CRB1_ENST00000543483.1_Missense_Mutation_p.E94K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.E395K|CRB1_ENST00000367399.2_Missense_Mutation_p.E283K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	395	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E395K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCCACTGCGAAGAAGACGT	0.343																																							uc001gtz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1183-1185)GAA>AAA		crumbs homolog 1 precursor							106.0	97.0	100.0					1																	197390141		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390141G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1183G>A	1.37:g.197390141G>A	ENSP00000356370:p.Glu395Lys					CRB1_uc010poz.1_Missense_Mutation_p.E326K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E283K|CRB1_uc010ppb.1_Missense_Mutation_p.E395K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.E44K	p.E395K	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1318	+			395			Extracellular (Potential).|EGF-like 9.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1183G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398169	0.83120	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.47	5.47	0.80525	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89781	0.6814	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.994;1.0;0.998;1.0	P;P;D;P;D	0.83275	0.886;0.895;0.996;0.831;0.994	D	0.90907	0.4773	9	0.72032	D	0.01	.	19.3228	0.94248	0.0:0.0:1.0:0.0	.	395;326;283;44;395	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	K	326;395;395;283;94;44	ENSP00000438786:E326K;ENSP00000438091:E395K;ENSP00000356370:E395K;ENSP00000356369:E283K;ENSP00000439579:E94K	ENSP00000356369:E283K	E	+	1	0	CRB1	195656764	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	3.749000	0.55150	2.550000	0.86006	0.585000	0.79938	GAA		0.343	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		39	182	0	0	0	0.006999	0	39	182				
GPR25	2848	broad.mit.edu	37	1	200842857	200842857	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:200842857G>A	ENST00000304244.2	+	1	775	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	231					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R231Q(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGCCTGCGACGGCCGCCGCAC	0.687																																							uc001gvn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)CGG>CAG		G protein-coupled receptor 25							25.0	29.0	28.0					1																	200842857		2181	4268	6449	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842857G>A	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.692G>A	1.37:g.200842857G>A	ENSP00000301917:p.Arg231Gln						p.R231Q	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	692	+			231			Cytoplasmic (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.692G>A	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260244	0.23051	.	.	ENSG00000170128	ENST00000304244	T	0.41400	1.0	4.12	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.286767	0.18002	U	0.154875	T	0.24851	0.0603	L	0.31371	0.925	0.09310	N	1	P	0.36683	0.565	B	0.33042	0.157	T	0.11275	-1.0594	10	0.23302	T	0.38	-2.1904	8.5825	0.33637	0.2751:0.0:0.7249:0.0	.	231	O00155	GPR25_HUMAN	Q	231	ENSP00000301917:R231Q	ENSP00000301917:R231Q	R	+	2	0	GPR25	199109480	0.000000	0.05858	0.583000	0.28640	0.941000	0.58515	0.100000	0.15231	0.693000	0.31634	0.462000	0.41574	CGG		0.687	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		4	92	0	0	0	0.000602	0	4	92				
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202406948G>T	ENST00000608999.1	+	10	1407		c.e10-1		RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000480184.1_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTCATAGTTCTCTTCTG	0.408																																							uc001gya.1		NA																	2	Unknown(2)		lung(2)	ovary(3)	3						c.e10-1		protein phosphatase 1, regulatory (inhibitor)							35.0	37.0	37.0					1																	202406948		2203	4300	6503	SO:0001630	splice_region_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202406948G>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1255-1G>T	1.37:g.202406948G>T						PPP1R12B_uc001gxy.2_Splice_Site_p.F419_splice|PPP1R12B_uc009xad.1_Splice_Site_p.F225_splice|PPP1R12B_uc009xae.1_Splice_Site_p.V381_splice|PPP1R12B_uc001gxz.1_Splice_Site_p.F419_splice	p.F419_splice	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1399	+								A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	ENST00000608999.1	37	c.1255_splice	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659873	0.29515	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6065	0.95583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200673571	1.000000	0.71417	0.984000	0.44739	0.367000	0.29736	6.270000	0.72563	2.625000	0.88918	0.650000	0.86243	.		0.408	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	Intron	22	77	1	0	1.87028e-06	0.001882	2.24965e-06	22	77				
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202699059C>G	ENST00000367265.3	-	26	5437	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1461Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1425					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1425Q(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTAACTCGTTCCCACCGCTCA	0.478																																							uc001gyf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(4273-4275)GAA>CAA		jumonji, AT rich interactive domain 1B							140.0	133.0	136.0					1																	202699059		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202699059C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4273G>C	1.37:g.202699059C>G	ENSP00000356234:p.Glu1425Gln					KDM5B_uc009xag.2_Missense_Mutation_p.E1461Q|KDM5B_uc001gyg.1_Missense_Mutation_p.E1267Q	p.E1425Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			26	4389	-			1425					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4273G>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802636	0.16397	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86230	-1.91;-1.71;-2.09	5.23	5.23	0.72850	.	0.571103	0.18206	N	0.148359	T	0.78824	0.4344	N	0.22421	0.69	0.21897	N	0.999489	B;B	0.26258	0.145;0.007	B;B	0.25884	0.064;0.006	T	0.66023	-0.6026	10	0.27082	T	0.32	-6.2065	12.8889	0.58058	0.1621:0.8378:0.0:0.0	.	1461;1425	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	1425;1267;1461;1267	ENSP00000356234:E1425Q;ENSP00000356233:E1461Q;ENSP00000235790:E1267Q	ENSP00000235790:E1267Q	E	-	1	0	KDM5B	200965682	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.635000	0.54309	2.427000	0.82271	0.650000	0.86243	GAA		0.478	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		160	145	0	0	0	0.00361	0	160	145				
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:203134620C>T	ENST00000367236.4	+	3	1494	c.573C>T	c.(571-573)ccC>ccT	p.P191P	ADORA1_ENST00000337894.4_Silent_p.P191P|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.P191P	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	191					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.P191P(2)		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)	GGGTGCTGCCCCCGCTTCTCC	0.567																																							uc001gze.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(571-573)CCC>CCT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						157.0	161.0	159.0					1																	203134620		2203	4300	6503	SO:0001819	synonymous_variant	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134620C>T	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.573C>T	1.37:g.203134620C>T						FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.P191P|ADORA1_uc010pqg.1_Silent_p.P123P|ADORA1_uc009xak.1_Missense_Mutation_p.P117S|ADORA1_uc010pqh.1_Silent_p.P224P	p.P191P	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1006	+			191			Helical; Name=5; (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	37	c.573C>T	CCDS1434.1																																																																																				0.567	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		46	152	0	0	0	0.00361	0	46	152				
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:204970313C>A	ENST00000401399.1	+	25	3234	c.3035C>A	c.(3034-3036)tCc>tAc	p.S1012Y	NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.S1104Y|NFASC_ENST00000367170.4_Missense_Mutation_p.S1040Y|NFASC_ENST00000367172.4_Missense_Mutation_p.S1119Y|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.S1012Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron			O94856	NFASC_HUMAN	neurofascin	1119	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.S1012Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATGAGCAGTCCATATGGAAC	0.527																																							uc001hbj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3034-3036)TCC>TAC		neurofascin isoform 1 precursor							76.0	66.0	69.0					1																	204970313		1566	3582	5148	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204970313C>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3035C>A	1.37:g.204970313C>A	ENSP00000385637:p.Ser1012Tyr					NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc009xbh.1_Intron	p.S1012Y	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		26	3363	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1119			Extracellular (Potential).|Fibronectin type-III 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3035C>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387408	0.42308	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399	T;T;T;T;T	0.66638	-0.15;-0.22;-0.21;-0.15;-0.15	5.39	4.48	0.54585	.	0.126156	0.36200	N	0.002730	T	0.55924	0.1951	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.27608	0.081	T	0.53906	-0.8372	10	0.42905	T	0.14	.	10.7615	0.46268	0.0:0.8471:0.0:0.1529	.	1012	O94856-9	.	Y	1119;1104;1040;1012;1012	ENSP00000356140:S1119Y;ENSP00000356139:S1104Y;ENSP00000356138:S1040Y;ENSP00000344786:S1012Y;ENSP00000385637:S1012Y	ENSP00000344786:S1012Y	S	+	2	0	NFASC	203236936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.042000	0.30303	1.288000	0.44600	0.655000	0.94253	TCC		0.527	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		10	32	1	0	1.33987e-11	0.008291	1.86512e-11	10	32				
CCDC185	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	G	T	rs200878723		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:223567913G>T	ENST00000366875.3	+	1	1199	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		366								p.A366S(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAGGCGCGCGCCCAGGCAGA	0.672																																							uc001hoa.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1096-1098)GCC>TCC		hypothetical protein LOC164127							13.0	18.0	16.0					1																	223567913		2196	4293	6489	SO:0001583	missense	164127							g.chr1:223567913G>T																												ENST00000366875.3:c.1096G>T	1.37:g.223567913G>T	ENSP00000355840:p.Ala366Ser						p.A366S	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1199	+			366			Potential.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1096G>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443618	0.01089	.	.	ENSG00000178395	ENST00000366875	T	0.23147	1.92	4.51	-2.65	0.06095	.	.	.	.	.	T	0.13798	0.0334	L	0.40543	1.245	0.09310	N	1	B	0.21147	0.052	B	0.20184	0.028	T	0.39231	-0.9624	9	0.10636	T	0.68	.	1.769	0.03008	0.2467:0.3569:0.2621:0.1343	.	366	Q8N715	CA065_HUMAN	S	366	ENSP00000355840:A366S	ENSP00000355840:A366S	A	+	1	0	C1orf65	221634536	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.316000	0.08071	-1.080000	0.03109	-0.145000	0.13849	GCC		0.672	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			23	17	1	0	1.28384e-07	0.001882	1.60277e-07	23	17				
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:226016497A>C	ENST00000366837.4	+	2	263	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.K23Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	23					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.K23Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCGGGACAAAGAGGAAAC	0.562																																							uc001hpk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(67-69)AAA>CAA		epoxide hydrolase 1							53.0	50.0	51.0					1																	226016497		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016497A>C	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.67A>C	1.37:g.226016497A>C	ENSP00000355802:p.Lys23Gln					EPHX1_uc001hpl.2_Missense_Mutation_p.K23Q	p.K23Q	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			2	147	+	Breast(184;0.197)		23					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.67A>C	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791795	0.31685	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.18657	2.48;3.58;2.2;3.58	4.9	3.75	0.43078	.	0.388740	0.27567	N	0.018794	T	0.22666	0.0547	M	0.77616	2.38	0.38010	D	0.934504	B	0.26602	0.154	B	0.23852	0.049	T	0.07809	-1.0753	10	0.13853	T	0.58	-9.2926	9.535	0.39218	0.8487:0.0:0.1513:0.0	.	23	P07099	HYEP_HUMAN	Q	23	ENSP00000398491:K23Q;ENSP00000272167:K23Q;ENSP00000408469:K23Q;ENSP00000355802:K23Q	ENSP00000272167:K23Q	K	+	1	0	EPHX1	224083120	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.656000	0.54467	0.691000	0.31592	0.379000	0.24179	AAA		0.562	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		25	33	0	0	0	0.003954	0	25	33				
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	G	T	rs112882610		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:236902645G>T	ENST00000366578.4	+	10	1086	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R307L|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	307					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R307L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGGAGAACCGGACTCCCGAG	0.567																																							uc001hyf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(919-921)CGG>CTG		actinin, alpha 2							111.0	113.0	112.0					1																	236902645		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902645G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.920G>T	1.37:g.236902645G>T	ENSP00000355537:p.Arg307Leu					ACTN2_uc001hyg.2_Missense_Mutation_p.R99L|ACTN2_uc009xgi.1_Missense_Mutation_p.R307L|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	p.R307L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1124	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	307			Spectrin 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.920G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517930	0.96416	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.51071	0.72;0.72	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.91663	3.23	0.80722	D	1	D;D;D	0.76494	0.999;0.979;0.978	D;D;D	0.73380	0.98;0.929;0.977	T	0.81665	-0.0830	10	0.87932	D	0	.	19.7954	0.96478	0.0:0.0:1.0:0.0	.	307;77;307	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	L	307;307;76	ENSP00000443495:R307L;ENSP00000355537:R307L	ENSP00000355537:R307L	R	+	2	0	ACTN2	234969268	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.011000	0.88624	2.677000	0.91161	0.555000	0.69702	CGG		0.567	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		98	94	1	0	2.608e-42	0.00361	4.80293e-42	98	94				
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247607348C>A	ENST00000336119.3	+	7	3490	c.2744C>A	c.(2743-2745)aCg>aAg	p.T915K	NLRP3_ENST00000391827.2_Missense_Mutation_p.T858K|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858K|NLRP3_ENST00000391828.3_Missense_Mutation_p.T915K|NLRP3_ENST00000348069.2_Missense_Mutation_p.T801K|NLRP3_ENST00000366497.2_Missense_Mutation_p.T858K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512																																							uc001icr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2743-2745)ACG>AAG		NLR family, pyrin domain containing 3 isoform a							198.0	158.0	172.0					1																	247607348		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607348C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2744C>A	1.37:g.247607348C>A	ENSP00000337383:p.Thr915Lys					NLRP3_uc001ics.2_Missense_Mutation_p.T858K|NLRP3_uc001icu.2_Missense_Mutation_p.T915K|NLRP3_uc001icw.2_Missense_Mutation_p.T858K|NLRP3_uc001icv.2_Missense_Mutation_p.T801K|NLRP3_uc010pyw.1_Missense_Mutation_p.T893K	p.T915K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	2882	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	915			LRR 7.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2744C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	7.132	0.580092	0.13686	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.06	2.18	0.27775	.	0.288524	0.25244	N	0.032074	T	0.39118	0.1066	N	0.26042	0.785	0.09310	N	0.999996	B;B;B;B;B	0.20671	0.005;0.002;0.02;0.047;0.011	B;B;B;B;B	0.27076	0.02;0.005;0.076;0.067;0.023	T	0.29488	-1.0010	10	0.02654	T	1	.	4.9262	0.13894	0.2096:0.6825:0.0:0.1078	.	895;858;801;858;915	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	915;858;915;801;858;858	ENSP00000375704:T915K;ENSP00000355453:T858K;ENSP00000337383:T915K;ENSP00000294752:T801K;ENSP00000355452:T858K;ENSP00000375703:T858K	ENSP00000337383:T915K	T	+	2	0	NLRP3	245673971	0.003000	0.15002	0.130000	0.21974	0.583000	0.36354	-0.426000	0.07008	0.664000	0.31047	0.549000	0.68633	ACG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		43	75	1	0	4.17593e-13	0.007835	6.05459e-13	43	75				
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247614966C>A	ENST00000318749.6	-	1	342	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGTGGAAGACTGCATATTGC	0.592																																							uc010pyx.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(319-321)GTC>TTC		olfactory receptor, family 2, subfamily B,							96.0	88.0	91.0					1																	247614966		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614966C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.319G>T	1.37:g.247614966C>A	ENSP00000325682:p.Val107Phe						p.V107F	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	319	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	107			Helical; Name=3; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.319G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	1.209	-0.630204	0.03610	.	.	ENSG00000177535	ENST00000318749	T	0.00902	5.56	4.96	-4.84	0.03151	GPCR, rhodopsin-like superfamily (1);	0.677477	0.13290	N	0.399067	T	0.00440	0.0014	N	0.03029	-0.43	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.41840	-0.9486	10	0.30078	T	0.28	.	4.778	0.13189	0.1263:0.4918:0.1293:0.2526	.	107	Q5JQS5	OR2BB_HUMAN	F	107	ENSP00000325682:V107F	ENSP00000325682:V107F	V	-	1	0	OR2B11	245681589	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.537000	0.06128	-1.068000	0.03156	-0.499000	0.04595	GTC		0.592	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		70	74	1	0	1.48072e-28	0.00361	2.56744e-28	70	74				
GCSAML	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247737611T>C	ENST00000366488.4	+	5	439	c.335T>C	c.(334-336)cTt>cCt	p.L112P	GCSAML_ENST00000366489.1_Missense_Mutation_p.L92P|GCSAML_ENST00000366491.2_Missense_Mutation_p.L92P|GCSAML_ENST00000527084.1_Missense_Mutation_p.L80P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92P|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.L80P|GCSAML_ENST00000527541.1_Missense_Mutation_p.L80P	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	112								p.L112P(2)									GAATATGCCCTTCTTAGGACT	0.443																																							uc001idf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(334-336)CTT>CCT		hypothetical protein LOC148823							153.0	128.0	137.0					1																	247737611		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737611T>C	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.335T>C	1.37:g.247737611T>C	ENSP00000355444:p.Leu112Pro					C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	p.L112P	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		5	380	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		112					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.335T>C	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582891	0.46006	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	2.75	0.32379	.	0.239908	0.21726	N	0.070046	T	0.68091	0.2963	M	0.68952	2.095	0.36030	D	0.839331	D	0.76494	0.999	D	0.65773	0.938	T	0.73030	-0.4111	9	0.87932	D	0	-1.6574	7.4258	0.27098	0.0:0.0:0.2217:0.7783	.	112	Q5JQS6	CA150_HUMAN	P	80;80;92;92;80;112;92	.	ENSP00000355444:L112P	L	+	2	0	C1orf150	245804234	0.448000	0.25681	0.553000	0.28255	0.780000	0.44128	0.818000	0.27295	0.651000	0.30788	0.482000	0.46254	CTT		0.443	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		35	107	0	0	0	0.002836	0	35	107				
PROSER2	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:11908754G>A	ENST00000277570.5	+	3	517	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PROSER2_ENST00000474155.1_3'UTR|PROSER2_ENST00000379200.1_5'Flank|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	121								p.E121E(2)									GGGAAGCCGAGGGCCTTCCAG	0.622																																							uc001ikx.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(361-363)GAG>GAA		hypothetical protein LOC254427							29.0	30.0	29.0					10																	11908754		2200	4297	6497	SO:0001819	synonymous_variant	254427							g.chr10:11908754G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.363G>A	10.37:g.11908754G>A						uc001iky.1_Intron	p.E121E	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			3	517	+			121					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	c.363G>A	CCDS7085.1																																																																																				0.622	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		29	62	0	0	0	0.00874	0	29	62				
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:23409753A>C	ENST00000376510.3	+	5	614	c.511A>C	c.(511-513)Aac>Cac	p.N171H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N171H(2)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTTTTGCATCAACAGTGTGGC	0.493																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	Esophageal Squamous(89;1240 1363 4973 30188 42299)	uc001iro.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(511-513)AAC>CAC		methionine sulfoxide reductase B2 precursor	L-Methionine(DB00134)						122.0	116.0	118.0					10																	23409753		1994	4164	6158	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23409753A>C	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.511A>C	10.37:g.23409753A>C	ENSP00000365693:p.Asn171His						p.N171H	NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN			5	622	+			171					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.511A>C	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156208	0.78114	.	.	ENSG00000148450	ENST00000376510	D	0.84516	-1.86	5.3	4.15	0.48705	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.000000	0.85682	D	0.000000	D	0.94765	0.8310	H	0.98178	4.165	0.48185	D	0.9996	D	0.89917	1.0	D	0.91635	0.999	D	0.94717	0.7897	10	0.87932	D	0	-12.9052	10.724	0.46057	0.8571:0.0:0.0:0.1429	.	171	Q9Y3D2	MSRB2_HUMAN	H	171	ENSP00000365693:N171H	ENSP00000365693:N171H	N	+	1	0	MSRB2	23449759	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.532000	0.81985	0.842000	0.35045	0.533000	0.62120	AAC		0.493	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		17	39	0	0	0	0.006122	0	17	39				
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:30317504G>A	ENST00000375377.1	-	3	1674	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	525					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.Q525*(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGCCACTGTCCCCTTGCC	0.632																																							uc001iux.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(1573-1575)CAG>TAG		hypothetical protein LOC57608							85.0	89.0	88.0					10																	30317504		2025	4181	6206	SO:0001587	stop_gained	57608							g.chr10:30317504G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1573C>T	10.37:g.30317504G>A	ENSP00000364526:p.Gln525*					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.Q387*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.Q525*	p.Q525*	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1632	-			525					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	c.1573C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536624	0.96460	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.32	-0.413	0.12363	.	1.034970	0.07612	N	0.925583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-1.3388	5.3443	0.16000	0.0678:0.3088:0.4091:0.2143	.	.	.	.	X	525	.	ENSP00000364526:Q525X	Q	-	1	0	KIAA1462	30357510	0.010000	0.17322	0.000000	0.03702	0.164000	0.22412	0.852000	0.27764	-0.347000	0.08299	0.561000	0.74099	CAG		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		81	186	0	0	0	0.00361	0	81	186				
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:32573907G>A	ENST00000263062.8	-	10	1732	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	EPC1_ENST00000319778.6_Missense_Mutation_p.S488L|EPC1_ENST00000375110.2_Missense_Mutation_p.S438L|RP11-166N17.3_ENST00000419441.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	488					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.S488L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGTTGTGGTGAGGAAAGCAT	0.388																																							uc001iwg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1462-1464)TCA>TTA		enhancer of polycomb 1							122.0	118.0	119.0					10																	32573907		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32573907G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1463C>T	10.37:g.32573907G>A	ENSP00000263062:p.Ser488Leu					EPC1_uc001iwi.3_Missense_Mutation_p.S438L|EPC1_uc009xlt.2_Missense_Mutation_p.S438L|EPC1_uc001iwh.1_Missense_Mutation_p.S488L	p.S488L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			10	1733	-		Prostate(175;0.0199)	488					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1463C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772483	0.69992	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.14893	2.47;2.47;2.47	5.98	5.07	0.68467	.	0.350072	0.32918	N	0.005483	T	0.17746	0.0426	L	0.42245	1.32	0.51767	D	0.999933	B;B;B	0.21753	0.005;0.02;0.06	B;B;B	0.16289	0.003;0.013;0.015	T	0.01839	-1.1263	10	0.72032	D	0.01	-5.027	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	438;488;488	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	L	438;488;488	ENSP00000364251:S438L;ENSP00000318559:S488L;ENSP00000263062:S488L	ENSP00000263062:S488L	S	-	2	0	EPC1	32613913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.120000	0.71596	1.531000	0.49152	0.655000	0.94253	TCA		0.388	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			30	108	0	0	0	0.007291	0	30	108				
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	236					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562																																							uc001jix.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(775-777)GGG>TGG		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768660G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.706G>T	10.37:g.51768660G>T	ENSP00000363168:p.Gly236Trp						p.G259W	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	1173	+			259						Missense_Mutation	SNP	ENST00000374056.4	37	c.775G>T		.	.	.	.	.	.	.	.	.	.	.	14.80	2.642559	0.47153	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.062808	0.64402	D	0.000009	T	0.67590	0.2909	M	0.72894	2.215	0.38579	D	0.950147	D	0.76494	0.999	D	0.77004	0.989	T	0.67078	-0.5761	9	0.87932	D	0	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	259	C9IYN2	.	W	259;236	.	ENSP00000363168:G259W	G	+	1	0	AGAP6	51438666	1.000000	0.71417	0.271000	0.24616	0.273000	0.26683	2.433000	0.44793	0.132000	0.18615	0.134000	0.15878	GGG		0.562	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		87	233	1	0	7.79638e-53	0.00361	1.4677e-52	87	233				
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:61833765C>A	ENST00000280772.2	-	37	7065	c.6874G>T	c.(6874-6876)Ggt>Tgt	p.G2292C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2292					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G2292C(2)|p.G2292S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAACAGACCTGCCAGTTCT	0.493																																							uc001jky.2		NA																	3	Substitution - Missense(3)		lung(2)|skin(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(6874-6876)GGT>TGT		ankyrin 3 isoform 1							121.0	118.0	119.0					10																	61833765		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833765C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6874G>T	10.37:g.61833765C>A	ENSP00000280772:p.Gly2292Cys					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.G2292C	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	7066	-			2292					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6874G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801506	0.70682	.	.	ENSG00000151150	ENST00000280772	D	0.84298	-1.83	5.94	5.94	0.96194	.	0.000000	0.42964	D	0.000623	D	0.91938	0.7447	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91774	0.5430	10	0.87932	D	0	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	2292	Q12955	ANK3_HUMAN	C	2292	ENSP00000280772:G2292C	ENSP00000280772:G2292C	G	-	1	0	ANK3	61503771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.816000	0.96949	0.563000	0.77884	GGT		0.493	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		44	127	1	0	2.56175e-15	0.00361	3.90518e-15	44	127				
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:68857483G>T	ENST00000361320.4	+	3	2253	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.E559*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACACACCTAGAGACTGAGCT	0.483																																							uc001jmz.1		NA																	4	Substitution - Nonsense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1675-1677)GAG>TAG		leucine rich repeat transmembrane neuronal 3							163.0	140.0	148.0					10																	68857483		2203	4300	6503	SO:0001587	stop_gained	347731					integral to membrane		g.chr10:68857483G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1675G>T	10.37:g.68857483G>T	ENSP00000355187:p.Glu559*					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron	p.E559*	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			3	2225	+			559			Cytoplasmic (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	c.1675G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	41	8.675133	0.98910	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.92	5.92	0.95590	.	0.000000	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.2511	0.87042	0.0:0.0:1.0:0.0	.	.	.	.	X	559	.	ENSP00000355187:E559X	E	+	1	0	LRRTM3	68527489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.780000	0.75063	2.822000	0.97130	0.650000	0.86243	GAG		0.483	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		13	33	1	0	2.27111e-07	0.001368	2.82341e-07	13	33				
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:82036276C>A	ENST00000372213.3	-	6	884	c.624G>T	c.(622-624)caG>caT	p.Q208H	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.Q208H(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCGTTGTGCTGCACAGAGA	0.582																																							uc001kbw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(622-624)CAG>CAT		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						195.0	156.0	170.0					10																	82036276		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036276C>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.624G>T	10.37:g.82036276C>A	ENSP00000361287:p.Gln208His						p.Q208H	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	879	-			208					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.624G>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809303	0.70797	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.86230	-2.09;-2.09	4.84	-1.45	0.08828	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.051690	0.85682	D	0.000000	D	0.89420	0.6710	M	0.89658	3.05	0.80722	D	1	P	0.51791	0.948	P	0.49252	0.604	D	0.87610	0.2503	10	0.87932	D	0	-22.3094	9.2453	0.37523	0.0:0.4839:0.0:0.5161	.	208	Q00266	METK1_HUMAN	H	208;208;145	ENSP00000361287:Q208H;ENSP00000414961:Q145H	ENSP00000361280:Q208H	Q	-	3	2	MAT1A	82026256	0.877000	0.30153	0.938000	0.37757	0.990000	0.78478	0.020000	0.13466	-0.380000	0.07894	0.655000	0.94253	CAG		0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		43	173	1	0	9.84934e-19	0.002522	1.59146e-18	43	173				
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:88769369C>G	ENST00000444431.1	+	0	3969				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CCTGGGCCAGCACCTGCTGCG	0.607																																							uc001kee.2		NA																	0					0						c.(1360-1362)CAC>GAC		ankyrin repeat and GTPase domain Arf GTPase							76.0	95.0	88.0					10																	88769369		2199	4300	6499			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769369C>G			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769369C>G						AGAP11_uc001kef.2_Intron	p.H454D	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN			12	2564	+			454					B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37	c.1360C>G																																																																																					0.607	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		43	126	0	0	0	0.002522	0	43	126				
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:104638636G>C	ENST00000369880.3	+	9	850	c.773G>C	c.(772-774)cGc>cCc	p.R258P	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	258					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)	p.R258P(2)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCAACATTTCGCCTCTTCAAA	0.413																																							uc001kwk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(772-774)CGC>CCC		arsenic (+3 oxidation state) methyltransferase							155.0	140.0	145.0					10																	104638636		1883	4120	6003	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638636G>C	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.773G>C	10.37:g.104638636G>C	ENSP00000358896:p.Arg258Pro					AS3MT_uc001kwj.2_Missense_Mutation_p.R260P|AS3MT_uc009xxh.2_Missense_Mutation_p.R258P	p.R258P	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	9	913	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	258					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.773G>C	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283264	0.80803	.	.	ENSG00000214435	ENST00000369880	T	0.38077	1.16	5.48	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.86268	2.805	0.37438	D	0.914316	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.993	T	0.72792	-0.4186	9	0.72032	D	0.01	-4.7106	10.9861	0.47523	0.0767:0.133:0.7903:0.0	.	258;258;258	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	P	258	ENSP00000358896:R258P	ENSP00000358896:R258P	R	+	2	0	AS3MT	104628626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.765000	0.68834	2.569000	0.86673	0.561000	0.74099	CGC		0.413	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		25	95	0	0	0	0.00333	0	25	95				
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:114169302G>T	ENST00000393081.1	+	7	877	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ACSL5_ENST00000354655.4_Missense_Mutation_p.K190N|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.K190N|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.K246N|ACSL5_ENST00000369410.3_5'Flank|ACSL5_ENST00000433418.1_Missense_Mutation_p.K190N|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCCAAAAGGCATTGGTGC	0.498																																							uc001kzs.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|skin(1)	3						c.(568-570)AAG>AAT		acyl-CoA synthetase long-chain family member 5							164.0	148.0	154.0					10																	114169302		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114169302G>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.570G>T	10.37:g.114169302G>T	ENSP00000376796:p.Lys190Asn					ACSL5_uc001kzt.2_Missense_Mutation_p.K190N|ACSL5_uc001kzu.2_Missense_Mutation_p.K246N|ACSL5_uc009xxz.2_Missense_Mutation_p.K190N|ACSL5_uc010qrj.1_Translation_Start_Site	p.K190N	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	7	711	+		Colorectal(252;0.117)|Breast(234;0.222)	190			Cytoplasmic (Potential).		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.570G>T	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674631	0.67928	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	5.9	3.04	0.35103	AMP-dependent synthetase/ligase (1);	0.092835	0.64402	D	0.000001	T	0.34019	0.0883	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	T	0.05338	-1.0891	10	0.39692	T	0.17	-19.2907	12.1841	0.54227	0.1272:0.0:0.8728:0.0	.	190;246;190	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	N	190;190;246;190;190	ENSP00000346680:K190N;ENSP00000376796:K190N;ENSP00000348429:K246N;ENSP00000403647:K190N;ENSP00000346223:K190N	ENSP00000346223:K190N	K	+	3	2	ACSL5	114159292	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	1.170000	0.31883	0.390000	0.25115	0.655000	0.94253	AAG		0.498	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		46	118	1	0	5.73435e-26	0.00361	9.88508e-26	46	118				
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:121140407C>A	ENST00000392870.2	+	3	558	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	MIR4681_ENST00000580598.1_RNA|GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.L77M(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCCTGGGCTGGAGTGTTA	0.498																																							uc001led.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)	3						c.(229-231)CTG>ATG		G protein-coupled receptor kinase 5							131.0	126.0	128.0					10																	121140407		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121140407C>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.229C>A	10.37:g.121140407C>A	ENSP00000376609:p.Leu77Met					GRK5_uc009xzh.2_Translation_Start_Site|GRK5_uc010qta.1_Translation_Start_Site	p.L77M	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	3	462	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	77			N-terminal.|RGS.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.229C>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235330	0.79800	.	.	ENSG00000198873	ENST00000392870	T	0.01933	4.55	4.86	4.86	0.63082	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.39544	N	0.001329	T	0.11196	0.0273	M	0.83384	2.64	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.00035	-1.2263	10	0.66056	D	0.02	-3.6844	10.4987	0.44794	0.0:0.9105:0.0:0.0895	.	77	P34947	GRK5_HUMAN	M	77	ENSP00000376609:L77M	ENSP00000376609:L77M	L	+	1	2	GRK5	121130397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.291000	0.59025	2.512000	0.84698	0.563000	0.77884	CTG		0.498	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		45	128	1	0	7.88023e-25	0.00361	1.34668e-24	45	128				
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:125521438T>A	ENST00000241305.3	-	11	1881	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q576L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCCTCCTTCTGGAAGTCCTC	0.667																																							uc001lhk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1726-1728)CAG>CTG		carboxypeptidase X (M14 family), member 2							36.0	35.0	35.0					10																	125521438		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125521438T>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1727A>T	10.37:g.125521438T>A	ENSP00000241305:p.Gln576Leu					CPXM2_uc001lhj.2_RNA	p.Q576L	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	11	2052	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	576					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1727A>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657966	0.47467	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.03272	3.99	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (2);	0.254062	0.41194	D	0.000928	T	0.03783	0.0107	N	0.17800	0.525	0.40803	D	0.983357	B	0.26002	0.139	B	0.32090	0.14	T	0.55373	-0.8151	10	0.16896	T	0.51	-19.0709	15.5188	0.75846	0.0:0.0:0.0:1.0	.	576	Q8N436	CPXM2_HUMAN	L	72;576;409;551	ENSP00000241305:Q576L	ENSP00000241305:Q576L	Q	-	2	0	CPXM2	125511428	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.122000	0.64697	2.251000	0.74343	0.496000	0.49642	CAG		0.667	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		19	38	0	0	0	0.006122	0	19	38				
DOCK1	1793	broad.mit.edu	37	10	128830475	128830475	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:128830475G>C	ENST00000280333.6	+	18	1849	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	580	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.K580N(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGGAAGAAAAGGGCCACTCGG	0.557																																							uc001ljt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(1738-1740)AAG>AAC		dedicator of cytokinesis 1							27.0	28.0	27.0					10																	128830475		2118	4237	6355	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128830475G>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1740G>C	10.37:g.128830475G>C	ENSP00000280333:p.Lys580Asn					DOCK1_uc010qun.1_Missense_Mutation_p.K601N	p.K580N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	18	1804	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	580			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1740G>C		.	.	.	.	.	.	.	.	.	.	G	11.79	1.743353	0.30865	.	.	ENSG00000150760	ENST00000280333	T	0.04049	3.72	3.85	1.04	0.20106	.	0.054229	0.64402	D	0.000001	T	0.05318	0.0141	L	0.48642	1.525	0.44117	D	0.996897	B;B	0.26318	0.046;0.146	B;B	0.32583	0.148;0.148	T	0.40664	-0.9551	10	0.28530	T	0.3	.	7.6989	0.28611	0.4347:0.0:0.5653:0.0	.	580;580	B2RUU3;Q14185	.;DOCK1_HUMAN	N	580	ENSP00000280333:K580N	ENSP00000280333:K580N	K	+	3	2	DOCK1	128720465	0.999000	0.42202	0.994000	0.49952	0.927000	0.56198	0.508000	0.22692	0.224000	0.20940	0.655000	0.94253	AAG		0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		3	9	0	0	0	0.004672	0	3	9				
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:1904695C>A	ENST00000311604.3	+	4	578	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	LSP1_ENST00000381775.1_Missense_Mutation_p.L263M|LSP1_ENST00000405957.2_Missense_Mutation_p.L73M|LSP1_ENST00000406638.2_Missense_Mutation_p.L73M|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	135					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.L135M(2)|p.L73M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGAAGTCCACCTGGAGGAGTT	0.607																																							uc001lui.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(1)	1						c.(403-405)CTG>ATG		lymphocyte-specific protein 1 isoform 1							79.0	81.0	80.0					11																	1904695		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1904695C>A	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.403C>A	11.37:g.1904695C>A	ENSP00000308383:p.Leu135Met					LSP1_uc001luj.2_Missense_Mutation_p.L263M|LSP1_uc001luk.2_Missense_Mutation_p.L73M|LSP1_uc001lul.2_Missense_Mutation_p.L73M|LSP1_uc001lum.2_Missense_Mutation_p.L73M	p.L135M	NM_002339	NP_002330	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	4	578	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	135					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.403C>A	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.071117	0.55646	.	.	ENSG00000130592	ENST00000311604;ENST00000446808;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000429923;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T;T;T	0.53640	1.78;0.61;1.73;1.78;1.79;0.73;1.78;1.8;1.8	3.02	2.07	0.26955	.	0.409736	0.14823	N	0.296316	T	0.56761	0.2007	L	0.54323	1.7	0.25618	N	0.986436	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.946	T	0.39313	-0.9620	10	0.41790	T	0.15	-7.1082	7.0798	0.25225	0.0:0.8582:0.0:0.1418	.	263;135	E9PFP3;P33241	.;LSP1_HUMAN	M	135;73;263;73;126;118;73;73;73	ENSP00000308383:L135M;ENSP00000402543:L73M;ENSP00000371194:L263M;ENSP00000383932:L73M;ENSP00000400346:L126M;ENSP00000400999:L118M;ENSP00000384022:L73M;ENSP00000416363:L73M;ENSP00000412405:L73M	ENSP00000308383:L135M	L	+	1	2	LSP1	1861271	0.872000	0.30054	0.319000	0.25293	0.067000	0.16453	1.596000	0.36718	0.823000	0.34589	0.450000	0.29827	CTG		0.607	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		13	84	1	0	7.93312e-07	0.00245	9.76004e-07	13	84				
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:2337896C>A	ENST00000182290.4	+	8	855	c.718C>A	c.(718-720)Cga>Aga	p.R240R	TSPAN32_ENST00000451520.2_Splice_Site_p.R229R|TSPAN32_ENST00000381121.3_Splice_Site_p.R240S	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	240					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)		p.R240R(2)|p.R240*(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGACCCCACGGTAGGGCCC	0.657																																							uc001lvy.1		NA																	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	p.R240*(1)	lung(2)|central_nervous_system(1)	central_nervous_system(1)	1						c.(718-720)CGA>AGA		tumor-suppressing subtransferable candidate 6							78.0	66.0	70.0					11																	2337896		2202	4299	6501	SO:0001630	splice_region_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2337896C>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.719+1C>A	11.37:g.2337896C>A						TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Silent_p.R210R|TSPAN32_uc001lwb.1_Missense_Mutation_p.R210S|TSPAN32_uc001lwc.1_Silent_p.R185R|TSPAN32_uc001lwd.1_Silent_p.R172R	p.R240R	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	855	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	240					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.718C>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.731642	0.30684	.	.	ENSG00000064201	ENST00000381121	T	0.57436	0.4	3.75	0.32	0.15878	.	0.576874	0.12978	U	0.423551	T	0.51058	0.1652	.	.	.	0.42735	D	0.993722	P	0.52170	0.951	P	0.48524	0.58	T	0.53578	-0.8419	9	0.87932	D	0	-2.1651	6.2533	0.20859	0.2136:0.4182:0.3682:0.0	.	240	Q96QS1-3	.	S	240	ENSP00000370513:R240S	ENSP00000370513:R240S	R	+	1	0	TSPAN32	2294472	0.034000	0.19679	0.238000	0.24106	0.364000	0.29643	0.165000	0.16564	0.185000	0.20105	0.313000	0.20887	CGC		0.657	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024	Silent	15	49	1	0	0.000566183	0.00499	0.000627564	15	49				
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4389468G>A	ENST00000408920.2	-	1	148	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	20					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P20S(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTAGGCCAGGGATGCCCAGC	0.512																																							uc010qye.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(58-60)CCT>TCT		olfactory receptor, family 52, subfamily B,							54.0	56.0	55.0					11																	4389468		2029	4190	6219	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389468G>A	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.58C>T	11.37:g.4389468G>A	ENSP00000386160:p.Pro20Ser						p.P20S	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	58	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	20			Extracellular (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.58C>T	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132171	0.37630	.	.	ENSG00000221996	ENST00000408920	T	0.00495	6.99	4.64	2.74	0.32292	.	0.000000	0.56097	D	0.000030	T	0.01061	0.0035	L	0.52573	1.65	0.34110	D	0.662926	D	0.89917	1.0	D	0.97110	1.0	T	0.60214	-0.7307	10	0.87932	D	0	.	8.0786	0.30731	0.0846:0.0:0.7577:0.1578	.	20	Q8NGK2	O52B4_HUMAN	S	20	ENSP00000386160:P20S	ENSP00000386160:P20S	P	-	1	0	OR52B4	4346044	1.000000	0.71417	0.618000	0.29105	0.061000	0.15899	6.072000	0.71238	0.566000	0.29273	0.655000	0.94253	CCT		0.512	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		13	26	0	0	0	0.004007	0	13	26				
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4842710C>A	ENST00000322110.5	+	1	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473																																							uc010qyn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(94-96)CCA>CAA		olfactory receptor, family 51, subfamily F,							261.0	256.0	258.0					11																	4842710		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842710C>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.95C>A	11.37:g.4842710C>A	ENSP00000323952:p.Pro32Gln						p.P32Q	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	95	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	32			Extracellular (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.95C>A	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207799	0.58343	.	.	ENSG00000176925	ENST00000322110	T	0.00502	6.95	4.6	4.6	0.57074	.	0.000000	0.40554	U	0.001065	T	0.02267	0.0070	M	0.88775	2.98	0.41018	D	0.98505	D	0.89917	1.0	D	0.97110	1.0	T	0.44406	-0.9330	10	0.66056	D	0.02	.	14.6018	0.68445	0.0:1.0:0.0:0.0	.	32	Q8NH61	O51F2_HUMAN	Q	32	ENSP00000323952:P32Q	ENSP00000323952:P32Q	P	+	2	0	OR51F2	4799286	0.987000	0.35691	1.000000	0.80357	0.468000	0.32798	2.703000	0.47110	2.544000	0.85801	0.561000	0.74099	CCA		0.473	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		69	183	1	0	1.42676e-28	0.00361	2.48114e-28	69	183				
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:5011855G>A	ENST00000380390.1	+	4	564	c.348G>A	c.(346-348)aaG>aaA	p.K116K	MMP26_ENST00000300762.1_Silent_p.K116K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	116					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K116K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ATGATATGAAGCCATCCGCAG	0.388																																							uc001lzv.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(346-348)AAG>AAA		matrix metalloproteinase 26 preproprotein							104.0	98.0	100.0					11																	5011855		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5011855G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.348G>A	11.37:g.5011855G>A							p.K116K	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	366	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	116					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.348G>A	CCDS7752.1																																																																																				0.388	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		20	68	0	0	0	0.010504	0	20	68				
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	C	A	rs146813493		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:6816036C>A	ENST00000332601.3	-	1	1092	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V302F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTCTCTTGACCTCTTGATTG	0.473																																							uc001mes.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(904-906)GTC>TTC		olfactory receptor, family 6, subfamily A,							135.0	129.0	131.0					11																	6816036		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816036C>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.904G>T	11.37:g.6816036C>A	ENSP00000330384:p.Val302Phe						p.V302F	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1104	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	302			Cytoplasmic (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.904G>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944935	0.18356	.	.	ENSG00000184933	ENST00000332601	T	0.29917	1.55	5.04	5.04	0.67666	.	0.130174	0.34200	N	0.004175	T	0.18964	0.0455	N	0.16368	0.405	0.31426	N	0.673767	B	0.30281	0.275	B	0.30646	0.118	T	0.10222	-1.0639	10	0.45353	T	0.12	.	9.6172	0.39698	0.0:0.907:0.0:0.093	.	302	O95222	OR6A2_HUMAN	F	302	ENSP00000330384:V302F	ENSP00000330384:V302F	V	-	1	0	OR6A2	6772612	0.844000	0.29557	0.995000	0.50966	0.508000	0.34012	1.744000	0.38268	2.794000	0.96219	0.655000	0.94253	GTC		0.473	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		27	93	1	0	8.24728e-16	0.004656	1.2736e-15	27	93				
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:7716867C>A	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.D406Y(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGTGGCATCAGAGACGAAT	0.448																																							uc010rbf.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1216-1218)GAT>TAT		ovochymase 2 precursor							63.0	58.0	60.0					11																	7716867		1822	4070	5892			341277							g.chr11:7716867C>A	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7716867C>A							p.D406Y	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	12	1216	-									Missense_Mutation	SNP	ENST00000533663.1	37	c.1216G>T		.	.	.	.	.	.	.	.	.	.	C	12.67	2.007914	0.35415	.	.	ENSG00000183378	ENST00000454689	T	0.32023	1.47	5.04	4.12	0.48240	CUB (5);	0.362259	0.20339	N	0.094263	T	0.65196	0.2668	H	0.95850	3.73	0.25819	N	0.984305	D	0.89917	1.0	D	0.97110	1.0	T	0.63184	-0.6694	10	0.87932	D	0	-2.172	9.2969	0.37822	0.0:0.8981:0.0:0.1019	.	406	Q7RTZ1	OVCH2_HUMAN	Y	406	ENSP00000407158:D406Y	ENSP00000407158:D406Y	D	-	1	0	OVCH2	7673443	1.000000	0.71417	0.995000	0.50966	0.158000	0.22134	1.997000	0.40786	1.106000	0.41623	0.467000	0.42956	GAT		0.448	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185		11	48	1	0	0.00829132	0.008291	0.00889105	11	48				
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:15260554G>T	ENST00000379554.3	+	11	1514	c.1468G>T	c.(1468-1470)Gct>Tct	p.A490S	INSC_ENST00000424273.1_Missense_Mutation_p.A401S|INSC_ENST00000528567.1_Missense_Mutation_p.A443S|INSC_ENST00000530161.1_Missense_Mutation_p.A443S|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.A443S|INSC_ENST00000525218.1_Missense_Mutation_p.A401S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	490					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.A490S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGCAGAAAGCTGCAGTGAC	0.602																																							uc001mly.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1468-1470)GCT>TCT		inscuteable isoform a							56.0	57.0	57.0					11																	15260554		2061	4196	6257	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260554G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1468G>T	11.37:g.15260554G>T	ENSP00000368872:p.Ala490Ser					INSC_uc001mlz.2_Missense_Mutation_p.A443S|INSC_uc001mma.2_Missense_Mutation_p.A443S|INSC_uc010rcs.1_Missense_Mutation_p.A478S|INSC_uc001mmb.2_Missense_Mutation_p.A443S|INSC_uc001mmc.2_Missense_Mutation_p.A401S	p.A490S	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			11	1514	+			490					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1468G>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585128	0.46110	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.057979	0.64402	D	0.000002	T	0.41166	0.1147	N	0.14661	0.345	0.48830	D	0.999713	P;B;P;P	0.41313	0.745;0.291;0.513;0.513	B;B;B;B	0.38296	0.27;0.104;0.147;0.241	T	0.30387	-0.9980	10	0.21014	T	0.42	-8.3198	9.4342	0.38628	0.0752:0.0:0.7708:0.154	.	478;401;443;490	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	S	490;443;401;443;443;401	ENSP00000368872:A490S;ENSP00000368874:A443S;ENSP00000389161:A401S;ENSP00000435022:A443S;ENSP00000436194:A443S;ENSP00000436113:A401S	ENSP00000368872:A490S	A	+	1	0	INSC	15217130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.630000	0.61297	2.672000	0.90937	0.655000	0.94253	GCT		0.602	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		15	45	1	0	8.28177e-16	0.007413	1.27561e-15	15	45				
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:18301447G>C	ENST00000349215.3	-	23	3649	c.3372C>G	c.(3370-3372)ctC>ctG	p.L1124L	HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Silent_p.L1010L|HPS5_ENST00000396253.3_Silent_p.L1010L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1124					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.L1124L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGGGACCAGAGAAACCGAT	0.403									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(3370-3372)CTC>CTG		Hermansky-Pudlak syndrome 5 isoform a							95.0	91.0	92.0					11																	18301447		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18301447G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3372C>G	11.37:g.18301447G>C						HPS5_uc001moe.1_Silent_p.L1010L|HPS5_uc001mof.1_Silent_p.L1010L	p.L1124L	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			23	3650	-			1124					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.3372C>G	CCDS7836.1																																																																																				0.403	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		14	47	0	0	0	0.003163	0	14	47				
LDHA	3939	broad.mit.edu	37	11	18425271	18425271	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:18425271G>C	ENST00000422447.3	+	6	896	c.623G>C	c.(622-624)gGt>gCt	p.G208A	LDHA_ENST00000430553.2_Missense_Mutation_p.G150A|LDHA_ENST00000542179.1_Missense_Mutation_p.G208A|LDHA_ENST00000540430.1_Missense_Mutation_p.G237A|LDHA_ENST00000379412.5_Missense_Mutation_p.G208A|LDHA_ENST00000396222.2_Missense_Mutation_p.G208A|LDHA_ENST00000227157.4_Missense_Mutation_p.G208A|AC084117.3_ENST00000496975.2_RNA	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	208					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						AATGTTGCTGGTGTCTCTCTG	0.378																																							uc001mok.3		NA																	0				central_nervous_system(3)	3						c.(622-624)GGT>GCT		lactate dehydrogenase A isoform 1	NADH(DB00157)						160.0	152.0	155.0					11																	18425271		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18425271G>C	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.623G>C	11.37:g.18425271G>C	ENSP00000395337:p.Gly208Ala					LDHA_uc010rdc.1_Missense_Mutation_p.G150A|LDHA_uc009yhn.2_Missense_Mutation_p.G207A|LDHA_uc009yho.2_Missense_Mutation_p.G35A|LDHA_uc001mol.3_Missense_Mutation_p.G208A|LDHA_uc010rdd.1_Missense_Mutation_p.G237A	p.G208A	NM_005566	NP_005557	P00338	LDHA_HUMAN			6	895	+			208					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.623G>C	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041994	0.93685	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.34	5.34	0.76211	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	H	0.95365	3.66	0.80722	D	1	D;P;P;D;D	0.71674	0.998;0.905;0.718;0.998;0.997	D;P;P;P;D	0.64595	0.925;0.843;0.562;0.711;0.927	D	0.91600	0.5294	10	0.66056	D	0.02	-2.4579	19.4115	0.94675	0.0:0.0:1.0:0.0	.	237;150;181;208;208	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	A	208;150;208;180;181;208;237;208;208	ENSP00000395337:G208A;ENSP00000406172:G150A;ENSP00000379524:G208A;ENSP00000227157:G208A;ENSP00000445175:G237A;ENSP00000368722:G208A;ENSP00000445331:G208A	ENSP00000227157:G208A	G	+	2	0	LDHA	18381847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.661000	0.98601	2.651000	0.90000	0.585000	0.79938	GGT		0.378	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		3	201	0	0	0	0.009096	0	3	201				
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:21592424G>T	ENST00000357134.5	+	18	2247	c.2095G>T	c.(2095-2097)Ggt>Tgt	p.G699C	NELL1_ENST00000325319.5_Missense_Mutation_p.G642C|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.G652C|NELL1_ENST00000298925.5_Missense_Mutation_p.G727C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473																																							uc001mqe.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)	3						c.(2095-2097)GGT>TGT		nel-like 1 isoform 1 precursor							194.0	178.0	183.0					11																	21592424		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592424G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2095G>T	11.37:g.21592424G>T	ENSP00000349654:p.Gly699Cys					NELL1_uc001mqf.2_Missense_Mutation_p.G652C|NELL1_uc009yid.2_Missense_Mutation_p.G727C|NELL1_uc010rdo.1_Missense_Mutation_p.G642C|NELL1_uc010rdp.1_Missense_Mutation_p.G412C|NELL1_uc001mqh.2_Missense_Mutation_p.G244C	p.G699C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2248	+			699			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2095G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999806	0.93227	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.964;0.979;0.979;1.0;0.965	D	0.87693	0.2555	10	0.54805	T	0.06	-9.952	20.8598	0.99761	0.0:0.0:1.0:0.0	.	642;727;244;652;699	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	C	727;699;642;652	ENSP00000298925:G727C;ENSP00000349654:G699C;ENSP00000317837:G642C;ENSP00000437170:G652C	ENSP00000298925:G727C	G	+	1	0	NELL1	21549000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.447000	0.97595	2.937000	0.99478	0.650000	0.86243	GGT		0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		32	59	1	0	9.65021e-13	0.002096	1.38561e-12	32	59				
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30033978C>T	ENST00000328224.6	-	2	1481	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R83Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCTCCTCCTCCGACTACCCCG	0.637																																							uc001msk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(247-249)CGG>CAG		potassium voltage-gated channel, shaker-related							43.0	46.0	45.0					11																	30033978		2043	4194	6237	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033978C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.248G>A	11.37:g.30033978C>T	ENSP00000328511:p.Arg83Gln						p.R83Q	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1400	-			83						Missense_Mutation	SNP	ENST00000328224.6	37	c.248G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107216	0.20714	.	.	ENSG00000182255	ENST00000328224	D	0.96856	-4.15	4.84	3.93	0.45458	.	1.696340	0.04460	U	0.374257	D	0.88533	0.6462	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.22601	0.04	T	0.82129	-0.0610	10	0.27082	T	0.32	.	10.0778	0.42370	0.0:0.8235:0.0:0.1765	.	83	P22459	KCNA4_HUMAN	Q	83	ENSP00000328511:R83Q	ENSP00000328511:R83Q	R	-	2	0	KCNA4	29990554	0.918000	0.31147	0.057000	0.19452	0.076000	0.17211	3.054000	0.49908	1.036000	0.39998	0.561000	0.74099	CGG		0.637	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		28	80	0	0	0	0.005443	0	28	80				
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30034116C>A	ENST00000328224.6	-	2	1343	c.110G>T	c.(109-111)aGg>aTg	p.R37M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	37					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R37M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TGCAGCTGCCCTGGAGTGAGC	0.667																																							uc001msk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(109-111)AGG>ATG		potassium voltage-gated channel, shaker-related							38.0	41.0	40.0					11																	30034116		1877	4087	5964	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034116C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.110G>T	11.37:g.30034116C>A	ENSP00000328511:p.Arg37Met						p.R37M	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1262	-			37						Missense_Mutation	SNP	ENST00000328224.6	37	c.110G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334792	0.81801	.	.	ENSG00000182255	ENST00000328224	D	0.97209	-4.29	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	1.800160	0.02905	N	0.135885	D	0.97626	0.9222	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90392	0.4396	10	0.87932	D	0	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	37	P22459	KCNA4_HUMAN	M	37	ENSP00000328511:R37M	ENSP00000328511:R37M	R	-	2	0	KCNA4	29990692	1.000000	0.71417	0.978000	0.43139	0.818000	0.46254	4.614000	0.61183	2.239000	0.73571	0.561000	0.74099	AGG		0.667	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		14	45	1	0	1.40151e-16	0.010504	2.18135e-16	14	45				
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30433103G>A	ENST00000358117.5	-	6	919	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T266M(3)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTGATGTACGTTGTGTAACC	0.463																																							uc001msr.2		NA																	3	Substitution - Missense(3)		lung(2)|NS(1)	skin(1)	1						c.(796-798)ACG>ATG		metallophosphoesterase domain containing 2							126.0	100.0	109.0					11																	30433103		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30433103G>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.797C>T	11.37:g.30433103G>A	ENSP00000350833:p.Thr266Met					MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.T140M	p.T266M	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			6	917	-			266					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.797C>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043266	0.75732	.	.	ENSG00000066382	ENST00000358117	T	0.40476	1.03	5.74	5.74	0.90152	.	0.096213	0.64402	D	0.000001	T	0.63768	0.2539	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	P	0.59424	0.857	T	0.59440	-0.7454	10	0.33940	T	0.23	-8.2602	20.2825	0.98528	0.0:0.0:1.0:0.0	.	266	Q15777	MPPD2_HUMAN	M	266	ENSP00000350833:T266M	ENSP00000350833:T266M	T	-	2	0	MPPED2	30389679	1.000000	0.71417	0.845000	0.33349	0.984000	0.73092	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	ACG		0.463	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		19	41	0	0	0	0.010504	0	19	41				
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30435814C>A	ENST00000358117.5	-	5	849	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Missense_Mutation_p.V243F	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V243F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTGGGCCGGACTCGCCTCTGA	0.473																																							uc001msr.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(727-729)GTC>TTC		metallophosphoesterase domain containing 2							127.0	112.0	117.0					11																	30435814		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30435814C>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.727G>T	11.37:g.30435814C>A	ENSP00000350833:p.Val243Phe					MPPED2_uc001msq.3_Missense_Mutation_p.V243F|MPPED2_uc009yji.2_Missense_Mutation_p.V117F	p.V243F	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			5	847	-			243					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.727G>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796833	0.90453	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.48522	0.81;0.81	5.92	5.0	0.66597	Metallophosphoesterase domain (1);	0.056240	0.64402	D	0.000001	T	0.76751	0.4031	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.97;0.979	D	0.83790	0.0230	10	0.59425	D	0.04	-8.9482	15.5439	0.76077	0.0:0.9331:0.0:0.0669	.	243;243	Q15777;E9PB10	MPPD2_HUMAN;.	F	243	ENSP00000388258:V243F;ENSP00000350833:V243F	ENSP00000350833:V243F	V	-	1	0	MPPED2	30392390	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.690000	0.61731	1.486000	0.48398	0.561000	0.74099	GTC		0.473	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		8	53	1	0	1.12685e-05	0.004482	1.31281e-05	8	53				
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:51515976A>T	ENST00000328188.1	+	1	695	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H232L(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGGCAAGGCACAAAGCCCTC	0.483																																							uc010ric.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(694-696)CAC>CTC		olfactory receptor, family 4, subfamily C,							128.0	106.0	114.0					11																	51515976		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515976A>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.695A>T	11.37:g.51515976A>T	ENSP00000329056:p.His232Leu						p.H232L	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	695	+			232			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.695A>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.163	-1.078854	0.01903	.	.	ENSG00000185926	ENST00000328188	T	0.00188	8.59	2.33	0.242	0.15498	GPCR, rhodopsin-like superfamily (1);	0.149099	0.31507	N	0.007525	T	0.00144	0.0004	L	0.37507	1.11	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41431	-0.9509	10	0.59425	D	0.04	.	5.4586	0.16604	0.4438:0.0:0.5562:0.0	.	232	A6NHA9	O4C46_HUMAN	L	232	ENSP00000329056:H232L	ENSP00000329056:H232L	H	+	2	0	OR4C46	51372552	0.000000	0.05858	0.050000	0.19076	0.012000	0.07955	-1.511000	0.02260	-0.066000	0.12998	-1.550000	0.00899	CAC		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		30	56	0	0	0	0.002096	0	30	56				
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55761670C>A	ENST00000278409.1	-	1	431	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	144					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.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCGGCTGCCATTTTTAGGT	0.498																																							uc010riv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(430-432)ATG>ATT		olfactory receptor, family 5, subfamily F,							43.0	45.0	44.0					11																	55761670		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761670C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.432G>T	11.37:g.55761670C>A	ENSP00000278409:p.Met144Ile						p.M144I	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	432	-	Esophageal squamous(21;0.00448)		144			Helical; Name=4; (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.432G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623796	0.28889	.	.	ENSG00000149133	ENST00000278409	T	0.35605	1.3	3.03	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51007	0.1649	L	0.53617	1.68	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.23297	-1.0192	9	0.87932	D	0	.	8.3668	0.32391	0.0:0.8726:0.0:0.1273	.	144	O95221	OR5F1_HUMAN	I	144	ENSP00000278409:M144I	ENSP00000278409:M144I	M	-	3	0	OR5F1	55518246	0.000000	0.05858	0.929000	0.37066	0.107000	0.19398	-1.020000	0.03618	1.422000	0.47177	0.297000	0.19635	ATG		0.498	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		18	31	1	0	6.49762e-13	0.006122	9.37491e-13	18	31				
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56128508C>A	ENST00000303039.3	+	1	818	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262P(2)		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)					ATGTGCAGCCCCGAAGTAACC	0.408																																							uc010rjh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(784-786)CCC>CCA		olfactory receptor, family 8, subfamily J,							129.0	113.0	118.0					11																	56128508		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128508C>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.786C>A	11.37:g.56128508C>A							p.P262P	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	786	+	Esophageal squamous(21;0.00448)		262			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.786C>A	CCDS31529.1																																																																																				0.408	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		24	84	1	0	1.13719e-10	0.008361	1.54668e-10	24	84				
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56258462G>T	ENST00000327216.2	-	1	409	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L129M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCATAAAGCAGAGGGTTGCAG	0.517																																							uc001nix.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(385-387)CTG>ATG		olfactory receptor, family 5, subfamily M,							95.0	81.0	86.0					11																	56258462		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258462G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.385C>A	11.37:g.56258462G>T	ENSP00000323354:p.Leu129Met						p.L129M	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	385	-	Esophageal squamous(21;0.00352)		129			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.385C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805308	0.50315	.	.	ENSG00000181371	ENST00000327216	T	0.01359	4.98	4.41	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31734	N	0.007141	T	0.10723	0.0262	H	0.94542	3.55	0.32285	N	0.567126	D	0.89917	1.0	D	0.91635	0.999	T	0.05289	-1.0894	10	0.87932	D	0	-13.0747	8.5953	0.33712	0.1932:0.0:0.8068:0.0	.	129	Q8NGP6	OR5M8_HUMAN	M	129	ENSP00000323354:L129M	ENSP00000323354:L129M	L	-	1	2	OR5M8	56015038	0.026000	0.19158	0.978000	0.43139	0.550000	0.35303	0.272000	0.18644	0.422000	0.26005	0.638000	0.83543	CTG		0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		18	51	1	0	1.85244e-09	0.00333	2.43569e-09	18	51				
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56344907G>T	ENST00000526812.2	-	1	356	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTGTGTGAAGCATCCAGCGT	0.443																																							uc001niz.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(289-291)TGC>TGA		olfactory receptor, family 5, subfamily M,							147.0	138.0	141.0					11																	56344907		1959	4149	6108	SO:0001587	stop_gained	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344907G>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.291C>A	11.37:g.56344907G>T	ENSP00000436004:p.Cys97*						p.C97*	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	291	-			97			Extracellular (Potential).		B9EIL9	Nonsense_Mutation	SNP	ENST00000526812.2	37	c.291C>A	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249614	0.22880	.	.	ENSG00000254834	ENST00000526812	.	.	.	4.04	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9119	0.19033	0.3065:0.0:0.6935:0.0	.	.	.	.	X	97	.	ENSP00000436004:C97X	C	-	3	2	OR5M10	56101483	0.000000	0.05858	0.136000	0.22124	0.017000	0.09413	-0.225000	0.09151	1.039000	0.40074	-0.164000	0.13417	TGC		0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		24	69	1	0	1.64293e-13	0.00333	2.40558e-13	24	69				
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:57947485G>T	ENST00000335397.3	+	3	885	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGACCTGTGGGGAGAGCTAC	0.463																																							uc001nmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(568-570)GGG>GTG		olfactory receptor, family 9, subfamily Q,							136.0	112.0	120.0					11																	57947485		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947485G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.569G>T	11.37:g.57947485G>T	ENSP00000334934:p.Gly190Val						p.G190V	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	885	+		Breast(21;0.222)	190			Extracellular (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.569G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154254	0.38021	.	.	ENSG00000186509	ENST00000335397	T	0.00084	8.75	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.00241	0.0007	N	0.17345	0.48	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	10	0.87932	D	0	-20.4891	13.8367	0.63413	0.0:0.1658:0.8342:0.0	.	190	Q8NGQ5	OR9Q1_HUMAN	V	190	ENSP00000334934:G190V	ENSP00000334934:G190V	G	+	2	0	OR9Q1	57704061	0.000000	0.05858	1.000000	0.80357	0.455000	0.32408	0.440000	0.21592	2.669000	0.90835	0.484000	0.47621	GGG		0.463	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		32	116	1	0	1.08312e-15	0.009535	1.65966e-15	32	116				
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58034677C>G	ENST00000395079.2	-	1	1055	c.654G>C	c.(652-654)aaG>aaC	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572																																							uc001nmq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(652-654)AAG>AAC		olfactory receptor, family 10, subfamily W,							85.0	81.0	82.0					11																	58034677		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034677C>G	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.654G>C	11.37:g.58034677C>G	ENSP00000378516:p.Lys218Asn						p.K218N	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1056	-		Breast(21;0.0589)	218			Cytoplasmic (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.654G>C	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	C	9.266	1.044377	0.19748	.	.	ENSG00000172772	ENST00000395079	T	0.00183	8.6	5.65	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.615343	0.14839	N	0.295401	T	0.00241	0.0007	M	0.72576	2.205	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34329	-0.9833	10	0.66056	D	0.02	.	8.3552	0.32327	0.0:0.566:0.2812:0.1528	.	218	Q8NGF6	O10W1_HUMAN	N	218	ENSP00000378516:K218N	ENSP00000378516:K218N	K	-	3	2	OR10W1	57791253	0.000000	0.05858	0.050000	0.19076	0.409000	0.31022	-0.740000	0.04861	0.685000	0.31468	0.655000	0.94253	AAG		0.572	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		13	27	0	0	0	0.003163	0	13	27				
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58949495A>T	ENST00000227451.3	+	2	599	c.495A>T	c.(493-495)acA>acT	p.T165T	DTX4_ENST00000532982.1_Silent_p.T59T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	165					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T165T(2)|p.T59T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCATGGTCACAGGGACCTTGC	0.637																																							uc001nns.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(2)|central_nervous_system(1)	3						c.(493-495)ACA>ACT		deltex 4 homolog							50.0	57.0	54.0					11																	58949495		2113	4231	6344	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949495A>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.495A>T	11.37:g.58949495A>T						DTX4_uc001nnr.2_Silent_p.T59T	p.T165T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			2	752	+		all_epithelial(135;0.125)	165					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.495A>T	CCDS44612.1																																																																																				0.637	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		21	68	0	0	0	0.002299	0	21	68				
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:76371973C>A	ENST00000407242.2	-	3	906	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	LRRC32_ENST00000404995.1_Missense_Mutation_p.V222L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.V222L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	222					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTCTAGCACCCGCAGCTGC	0.622																																							uc001oxq.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(664-666)GTG>TTG		leucine rich repeat containing 32 precursor							48.0	49.0	49.0					11																	76371973		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371973C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.664G>T	11.37:g.76371973C>A	ENSP00000384126:p.Val222Leu					LRRC32_uc001oxr.3_Missense_Mutation_p.V222L|LRRC32_uc010rsf.1_Missense_Mutation_p.V222L	p.V222L	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	907	-			222			LRR 8.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.664G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.121990	0.20877	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.79940	-1.32;-1.32;-1.32	4.43	3.47	0.39725	.	0.227176	0.36854	N	0.002365	T	0.63498	0.2516	L	0.28344	0.845	0.20196	N	0.99992	B	0.18741	0.03	B	0.15870	0.014	T	0.40627	-0.9553	10	0.20519	T	0.43	.	5.7724	0.18261	0.1913:0.6799:0.0:0.1288	.	222	Q14392	LRC32_HUMAN	L	222	ENSP00000260061:V222L;ENSP00000384126:V222L;ENSP00000385766:V222L	ENSP00000260061:V222L	V	-	1	0	LRRC32	76049621	0.222000	0.23652	0.616000	0.29078	0.780000	0.44128	0.979000	0.29500	2.306000	0.77630	0.462000	0.41574	GTG		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		28	60	1	0	3.62531e-18	0.004289	5.79463e-18	28	60				
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:82879556G>C	ENST00000298281.4	+	8	2631	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	727	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.D826H(2)|p.D727H(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCATTTGTAGATAGTCCAGC	0.428																																							uc001ozx.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2179-2181)GAT>CAT		pre-mRNA cleavage complex II protein Pcf11							84.0	82.0	83.0					11																	82879556		1870	4099	5969	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879556G>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2179G>C	11.37:g.82879556G>C	ENSP00000298281:p.Asp727His					PCF11_uc010rsu.1_Missense_Mutation_p.D858H	p.D727H	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	2524	+			727			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2179G>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734304	0.30774	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.53423	1.7;0.67;0.62	6.16	6.16	0.99307	.	0.095764	0.46145	D	0.000315	T	0.51278	0.1665	N	0.19112	0.55	0.44834	D	0.997844	D;D	0.61697	0.99;0.987	P;P	0.56865	0.808;0.753	T	0.37337	-0.9710	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	858;727	E9PQ01;O94913	.;PCF11_HUMAN	H	727;858;727	ENSP00000298281:D727H;ENSP00000434540:D858H;ENSP00000431567:D727H	.	D	+	1	0	PCF11	82557204	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.159000	0.77483	2.937000	0.99478	0.650000	0.86243	GAT		0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	43	0	0	0	0.00278	0	24	43				
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:102713485G>A	ENST00000299855.5	-	2	524	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	90					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P90S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CCACACCTGGGCTTGCGCATC	0.512																																							uc001phj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)	2						c.(268-270)CCC>TCC		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						74.0	65.0	68.0					11																	102713485		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713485G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.268C>T	11.37:g.102713485G>A	ENSP00000299855:p.Pro90Ser						p.P90S	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	2	333	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	90			Cysteine switch (By similarity).		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.268C>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150210	0.37923	.	.	ENSG00000149968	ENST00000299855	T	0.65549	-0.16	6.16	5.26	0.73747	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.213804	0.23604	N	0.046419	T	0.61324	0.2338	M	0.75085	2.285	0.47407	D	0.99941	P	0.48640	0.913	B	0.36464	0.225	T	0.69412	-0.5152	10	0.66056	D	0.02	.	15.6088	0.76696	0.0653:0.0:0.9346:0.0	.	90	P08254	MMP3_HUMAN	S	90	ENSP00000299855:P90S	ENSP00000299855:P90S	P	-	1	0	MMP3	102218695	1.000000	0.71417	0.997000	0.53966	0.058000	0.15608	1.648000	0.37271	1.633000	0.50488	0.650000	0.86243	CCC		0.512	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		9	8	0	0	0	0.004482	0	9	8				
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:111896296G>A	ENST00000280346.6	+	1	759	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DLAT_ENST00000537636.1_5'Flank|DLAT_ENST00000393051.1_Missense_Mutation_p.V34M	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	34					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.V34M(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		AACTCCACGAGTGACCTCGCG	0.682																																							uc001pmo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(100-102)GTG>ATG		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						38.0	39.0	39.0					11																	111896296		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111896296G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.100G>A	11.37:g.111896296G>A	ENSP00000280346:p.Val34Met					DLAT_uc009yyk.1_Missense_Mutation_p.V34M|DLAT_uc010rwr.1_Missense_Mutation_p.V34M	p.V34M	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	1	759	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	34					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.100G>A	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	7.510	0.654385	0.14580	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.17528	2.27;2.39	4.36	0.954	0.19595	.	1.819550	0.02401	N	0.080693	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999995	D;B	0.56521	0.976;0.119	P;B	0.50659	0.647;0.055	T	0.24548	-1.0157	10	0.56958	D	0.05	2.5204	7.2501	0.26144	0.1105:0.3401:0.5494:0.0	.	34;34	E9PEJ4;P10515	.;ODP2_HUMAN	M	34	ENSP00000280346:V34M;ENSP00000376771:V34M	ENSP00000280346:V34M	V	+	1	0	DLAT	111401506	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.954000	0.29175	0.373000	0.24621	0.561000	0.74099	GTG		0.682	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		9	35	0	0	0	0.006214	0	9	35				
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:113699991A>T	ENST00000003302.4	-	10	1055	c.987T>A	c.(985-987)tgT>tgA	p.C329*	USP28_ENST00000542033.1_5'Flank|USP28_ENST00000537706.1_Nonsense_Mutation_p.C329*|USP28_ENST00000545540.1_Nonsense_Mutation_p.C204*|USP28_ENST00000260188.5_Nonsense_Mutation_p.C329*|USP28_ENST00000544967.1_Nonsense_Mutation_p.C37*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	329	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C329*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCCTTCCAAACACTCGTCTA	0.468																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(985-987)TGT>TGA		ubiquitin specific protease 28							193.0	157.0	169.0					11																	113699991		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113699991A>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.987T>A	11.37:g.113699991A>T	ENSP00000003302:p.Cys329*					USP28_uc001pog.2_Nonsense_Mutation_p.C37*|USP28_uc010rwy.1_Nonsense_Mutation_p.C204*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.C329*	p.C329*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	10	1020	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	329					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.987T>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	37	6.613232	0.97705	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	.	.	.	5.36	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5224	8.6352	0.33943	0.8551:0.0:0.1449:0.0	.	.	.	.	X	329;329;37;204;93;329;228	.	ENSP00000003302:C329X	C	-	3	2	USP28	113205201	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.151000	0.50670	2.020000	0.59435	0.379000	0.24179	TGT		0.468	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			18	41	0	0	0	0.006122	0	18	41				
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:117058369T>A	ENST00000324225.4	+	12	1644	c.1113T>A	c.(1111-1113)ggT>ggA	p.G371G	SIDT2_ENST00000431081.2_Silent_p.G375G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	371					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.G371G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTACCGATGGTCTGGTTGACA	0.612																																							uc001pqh.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1111-1113)GGT>GGA		SID1 transmembrane family, member 2 precursor							130.0	109.0	116.0					11																	117058369		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117058369T>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1113T>A	11.37:g.117058369T>A						SIDT2_uc010rxe.1_Silent_p.G371G|SIDT2_uc001pqg.2_Silent_p.G371G|SIDT2_uc001pqi.1_Silent_p.G375G	p.G371G	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	12	1154	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	371			Cytoplasmic (Potential).		Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1113T>A	CCDS31682.1																																																																																				0.612	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		31	72	0	0	0	0.00623	0	31	72				
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:123624331A>G	ENST00000327930.2	-	1	922	c.896T>C	c.(895-897)tTa>tCa	p.L299S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L299S(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCTTTCTTAAGGCTCCCTT	0.378																																							uc010rzy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(895-897)TTA>TCA		olfactory receptor, family 6, subfamily X,							126.0	136.0	133.0					11																	123624331		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624331A>G	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.896T>C	11.37:g.123624331A>G	ENSP00000333724:p.Leu299Ser						p.L299S	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	896	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	299			Cytoplasmic (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.896T>C	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691879	0.30052	.	.	ENSG00000221931	ENST00000327930	T	0.47869	0.83	3.96	2.81	0.32909	.	.	.	.	.	T	0.47078	0.1426	M	0.77712	2.385	0.09310	N	1	B	0.33694	0.421	B	0.32289	0.143	T	0.45745	-0.9240	9	0.87932	D	0	-5.9693	7.8115	0.29234	0.8139:0.0:0.0:0.1861	.	299	Q8NH79	OR6X1_HUMAN	S	299	ENSP00000333724:L299S	ENSP00000333724:L299S	L	-	2	0	OR6X1	123129541	.	.	0.019000	0.16419	0.631000	0.37964	.	.	0.571000	0.29365	0.528000	0.53228	TTA		0.378	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		58	117	0	0	0	0.00361	0	58	117				
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:124294273C>A	ENST00000356130.3	-	1	516	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		CACAGAAGGTCAGTCGCAGCA	0.532																																							uc010sak.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(493-495)CTG>CTT		olfactory receptor, family 8, subfamily B,							94.0	65.0	75.0					11																	124294273		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294273C>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.495G>T	11.37:g.124294273C>A							p.L165L	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	495	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	165			Extracellular (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.495G>T	CCDS31710.1																																																																																				0.532	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		14	19	1	0	2.31682e-05	0.003163	2.67291e-05	14	19				
KIRREL3	84623	broad.mit.edu	37	11	126316711	126316711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:126316711G>T	ENST00000525144.2	-	9	1317	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.C356*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.C356*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	356	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGTCCAGGCGCAGCTGAAGA	0.627																																							uc001qea.2		NA																	0				ovary(3)	3						c.(1066-1068)TGC>TGA		kin of IRRE like 3 isoform 1							37.0	40.0	39.0					11																	126316711		2059	4185	6244	SO:0001587	stop_gained	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126316711G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1068C>A	11.37:g.126316711G>T	ENSP00000435466:p.Cys356*					KIRREL3_uc001qeb.2_Nonsense_Mutation_p.C356*|KIRREL3_uc001qec.1_Nonsense_Mutation_p.C356*	p.C356*	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	9	1429	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	356			Extracellular (Potential).|Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	ENST00000525144.2	37	c.1068C>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630817	0.87660	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	.	.	.	4.55	-3.66	0.04489	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3496	0.55141	0.75:0.0:0.25:0.0	.	.	.	.	X	356	.	ENSP00000435466:C356X	C	-	3	2	KIRREL3	125821921	0.014000	0.17966	0.992000	0.48379	0.916000	0.54674	-0.610000	0.05629	-0.550000	0.06183	0.297000	0.19635	TGC		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		3	5	1	0	0.004672	0.004672	0.00501901	3	5				
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:128842434G>A	ENST00000310343.9	-	21	3924	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P960S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P960S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1309	Poly-Pro.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.P1309S(2)|p.P960S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGGAAGGCGGAGGGGGAAGG	0.537																																							uc009zcp.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(3)|ovary(2)	5						c.(3925-3927)CCG>TCG		Rho GTPase-activating protein isoform 1							109.0	108.0	108.0					11																	128842434		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128842434G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3925C>T	11.37:g.128842434G>A	ENSP00000310561:p.Pro1309Ser					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P268S|ARHGAP32_uc001qez.2_Missense_Mutation_p.P960S	p.P1309S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			21	3925	-			1309			Poly-Pro.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3925C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685688	0.68157	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.07688	3.17;3.17;3.17	5.56	4.64	0.57946	.	0.245292	0.39759	N	0.001262	T	0.11665	0.0284	M	0.67953	2.075	0.25838	N	0.984097	B	0.34103	0.437	B	0.30401	0.115	T	0.07309	-1.0779	10	0.46703	T	0.11	.	14.0838	0.64942	0.0:0.0:0.8492:0.1508	.	1309	A7KAX9	RHG32_HUMAN	S	1309;960;960	ENSP00000310561:P1309S;ENSP00000376425:P960S;ENSP00000432862:P960S	ENSP00000310561:P1309S	P	-	1	0	ARHGAP32	128347644	0.993000	0.37304	0.824000	0.32777	0.917000	0.54804	2.899000	0.48679	1.338000	0.45544	0.655000	0.94253	CCG		0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		35	80	0	0	0	0.004289	0	35	80				
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:5021590C>A	ENST00000382545.3	+	2	2153	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	349					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A349E(2)|p.A349V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TTTGCCGAGGCGGAAGAAGCT	0.532																																							uc001qnh.2		NA																	3	Substitution - Missense(3)		lung(2)|breast(1)	ovary(1)|skin(1)	2						c.(1045-1047)GCG>GAG		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						150.0	148.0	149.0					12																	5021590		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021590C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1046C>A	12.37:g.5021590C>A	ENSP00000371985:p.Ala349Glu						p.A349E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2151	+			349					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1046C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016097	0.54468	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97352	-4.35	5.08	5.08	0.68730	Ion transport (1);	0.054087	0.64402	D	0.000001	D	0.95692	0.8599	L	0.52011	1.625	0.80722	D	1	B	0.21821	0.061	B	0.28784	0.094	D	0.93119	0.6523	10	0.46703	T	0.11	.	18.0083	0.89216	0.0:1.0:0.0:0.0	.	349	Q09470	KCNA1_HUMAN	E	349	ENSP00000371985:A349E	ENSP00000228858:A349E	A	+	2	0	KCNA1	4891851	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.597000	0.82733	2.793000	0.96121	0.655000	0.94253	GCG		0.532	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		80	238	1	0	6.00396e-56	0.00361	1.13749e-55	80	238				
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:6709107C>A	ENST00000357008.2	-	10	1477	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	CHD4_ENST00000309577.6_Silent_p.G438G|CHD4_ENST00000544484.1_Silent_p.G435G|CHD4_ENST00000544040.1_Silent_p.G431G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.G438G(4)		central_nervous_system(2)	2						CGAGGTCTCCCCCAACCTCTT	0.522																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(2)	2						c.(1312-1314)GGG>GGT		chromodomain helicase DNA binding protein 4							235.0	230.0	232.0					12																	6709107		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6709107C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1314G>T	12.37:g.6709107C>A						CHD4_uc001qpn.2_Silent_p.G431G|CHD4_uc001qpp.2_Silent_p.G435G	p.G438G	NM_001273	NP_001264	Q14839	CHD4_HUMAN			10	1478	-			438					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.1314G>T	CCDS8552.1																																																																																				0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		137	379	1	0	1.35588e-38	0.00361	2.48159e-38	137	379				
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:7647772C>A	ENST00000359156.4	-	6	1527	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F	CD163_ENST00000432237.2_Missense_Mutation_p.C442F|CD163_ENST00000541972.1_Missense_Mutation_p.C430F|CD163_ENST00000396620.3_Missense_Mutation_p.C442F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	442	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.C442F(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTTCCGTTACAGCTACTTAG	0.448																																							uc001qsz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(1324-1326)TGT>TTT		CD163 antigen isoform a							209.0	186.0	194.0					12																	7647772		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647772C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1325G>T	12.37:g.7647772C>A	ENSP00000352071:p.Cys442Phe					CD163_uc001qta.3_Missense_Mutation_p.C442F|CD163_uc009zfw.2_Missense_Mutation_p.C442F	p.C442F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1453	-			442			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1325G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681773	0.29872	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.01	4.13	0.48395	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.245457	0.35772	N	0.002992	D	0.84902	0.5575	H	0.96398	3.815	0.49915	D	0.999838	P;P;P	0.47677	0.833;0.876;0.899	P;P;P	0.53266	0.722;0.479;0.607	D	0.88709	0.3221	10	0.87932	D	0	.	11.7288	0.51724	0.0:0.9139:0.0:0.0861	.	442;442;442	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	442;430;442;442	ENSP00000352071:C442F;ENSP00000444071:C430F;ENSP00000379863:C442F;ENSP00000403885:C442F	ENSP00000352071:C442F	C	-	2	0	CD163	7539039	1.000000	0.71417	0.179000	0.23059	0.019000	0.09904	5.414000	0.66405	1.490000	0.48466	-0.143000	0.13931	TGT		0.448	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		68	170	1	0	2.18329e-32	0.00361	3.84181e-32	68	170				
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:9333633A>T	ENST00000261336.2	-	15	1813	c.1785T>A	c.(1783-1785)gcT>gcA	p.A595A	PZP_ENST00000381997.2_Silent_p.A464A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	595					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A595A(2)|p.A464A(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTGGTCCACAGCACGAAGGG	0.592																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1783-1785)GCT>GCA		pregnancy-zone protein precursor							76.0	60.0	65.0					12																	9333633		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9333633A>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1785T>A	12.37:g.9333633A>T						PZP_uc009zgl.2_Silent_p.A464A	p.A595A	NM_002864	NP_002855					15	1814	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1785T>A	CCDS8600.1																																																																																				0.592	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		13	26	0	0	0	0.001855	0	13	26				
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:18491482G>T	ENST00000266497.5	+	8	1433	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	PIK3C2G_ENST00000538779.1_Splice_Site_p.E465D|PIK3C2G_ENST00000535651.1_Splice_Site_p.E465D|PIK3C2G_ENST00000433979.1_Splice_Site_p.E465D			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	465	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E465D(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAAGGAGAGGTAAGTACAT	0.313																																							uc001rdt.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(1393-1395)GAG>GAT		phosphoinositide-3-kinase, class 2 gamma							125.0	124.0	124.0					12																	18491482		1847	4084	5931	SO:0001630	splice_region_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18491482G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1395+1G>T	12.37:g.18491482G>T						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E465D|PIK3C2G_uc010sic.1_Missense_Mutation_p.E243D	p.E465D	NM_004570	NP_004561	O75747	P3C2G_HUMAN			9	1511	+		Hepatocellular(102;0.194)	465					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1395G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241662	0.22711	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.61040	1.5;0.16;0.16;0.14	4.48	4.48	0.54585	Phosphoinositide 3-kinase, C2 (1);	2.374780	0.01376	N	0.012757	T	0.56396	0.1982	L	0.44542	1.39	0.27119	N	0.962194	B;B;B	0.24368	0.062;0.102;0.049	B;B;B	0.30401	0.053;0.115;0.039	T	0.43491	-0.9388	10	0.14656	T	0.56	-3.7758	12.9495	0.58391	0.0:0.0:1.0:0.0	.	464;465;465	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	D	465	ENSP00000443850:E465D;ENSP00000404845:E465D;ENSP00000266497:E465D;ENSP00000445381:E465D	ENSP00000266497:E465D	E	+	3	2	PIK3C2G	18382749	1.000000	0.71417	0.998000	0.56505	0.223000	0.24884	4.756000	0.62205	2.772000	0.95346	0.650000	0.86243	GAG		0.313	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	Missense_Mutation	16	44	1	0	1.56452e-12	0.007413	2.22485e-12	16	44				
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:22208545G>T	ENST00000229329.2	+	3	689		c.e3+1			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.?(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGAGGTAATCTCTTT	0.343																																							uc001rfm.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.e3+1		cytidine monophospho-N-acetylneuraminic acid							99.0	95.0	96.0					12																	22208545		2203	4300	6503	SO:0001630	splice_region_variant	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208545G>T	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.559+1G>T	12.37:g.22208545G>T						CMAS_uc001rfn.2_Splice_Site	p.V187_splice	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN			3	638	+								Q96AX5|Q9NQZ0	Splice_Site	SNP	ENST00000229329.2	37	c.559_splice	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451026	0.63290	.	.	ENSG00000111726	ENST00000229329;ENST00000538498	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9738	0.92725	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CMAS	22099812	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.511000	0.90535	2.545000	0.85829	0.591000	0.81541	.		0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	Intron	18	34	1	0	3.51602e-12	0.008871	4.95249e-12	18	34				
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:29597135A>T	ENST00000318184.5	-	24	2959	c.2960T>A	c.(2959-2961)cTg>cAg	p.L987Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	987						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L987Q(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGCTTGGTCAGAAGAACATC	0.418																																							uc001rix.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2959-2961)CTG>CAG		ovochymase 1 precursor							169.0	168.0	168.0					12																	29597135		1833	4093	5926	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29597135A>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2960T>A	12.37:g.29597135A>T	ENSP00000326708:p.Leu987Gln						p.L987Q	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			24	2960	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		987						Missense_Mutation	SNP	ENST00000318184.5	37	c.2960T>A		.	.	.	.	.	.	.	.	.	.	A	12.42	1.933084	0.34096	.	.	ENSG00000187950	ENST00000318184;ENST00000537054	T	0.52983	0.64	2.49	2.49	0.30216	CUB (2);	.	.	.	.	T	0.50309	0.1608	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.26916	-1.0089	9	0.72032	D	0.01	.	6.9	0.24277	1.0:0.0:0.0:0.0	.	987	Q7RTY7	OVCH1_HUMAN	Q	987;12	ENSP00000326708:L987Q	ENSP00000326708:L987Q	L	-	2	0	OVCH1	29488402	0.026000	0.19158	0.074000	0.20217	0.038000	0.13279	1.994000	0.40757	1.399000	0.46721	0.460000	0.39030	CTG		0.418	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		24	66	0	0	0	0.002299	0	24	66				
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:30882156C>T	ENST00000395805.2	-	8	1755	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403H|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R403H|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403H|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70H	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R403H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATATCCCAACGTTTTGGGAG	0.443																																							uc001rji.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1207-1209)CGT>CAT		C1q domain containing 1 isoform 1							135.0	125.0	128.0					12																	30882156		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30882156C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1208G>A	12.37:g.30882156C>T	ENSP00000379150:p.Arg403His					CAPRIN2_uc001rjf.1_Missense_Mutation_p.R200H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R403H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R70H	p.R403H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			8	1959	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		403						Missense_Mutation	SNP	ENST00000395805.2	37	c.1208G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615395	0.66672	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.74002	2.52;-0.52;2.94;-0.51;-0.8;2.94;2.55	5.06	4.1	0.47936	.	0.224065	0.32028	N	0.006698	T	0.53546	0.1803	N	0.08118	0	0.24962	N	0.99173	D;P;P;P;P;P;P	0.54964	0.969;0.924;0.947;0.948;0.876;0.85;0.876	B;B;B;B;B;B;B	0.41571	0.36;0.34;0.197;0.322;0.13;0.255;0.082	T	0.53380	-0.8447	10	0.41790	T	0.15	-4.3984	12.1635	0.54117	0.0:0.7135:0.2865:0.0	.	403;129;403;403;403;403;403	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	H	149;403;403;403;70;403;129;322	ENSP00000415407:R149H;ENSP00000298892:R403H;ENSP00000379150:R403H;ENSP00000251071:R403H;ENSP00000309785:R70H;ENSP00000391479:R403H;ENSP00000438010:R322H	ENSP00000251071:R403H	R	-	2	0	CAPRIN2	30773423	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.155000	0.50700	2.495000	0.84180	0.650000	0.86243	CGT		0.443	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		28	85	0	0	0	0.008361	0	28	85				
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:39761735C>A	ENST00000361418.5	-	4	565	c.550G>T	c.(550-552)Gga>Tga	p.G184*	KIF21A_ENST00000395670.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G184*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G184*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTATAAATTCCTCCAGTTGAA	0.308																																							uc001rly.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(550-552)GGA>TGA		kinesin family member 21A							100.0	113.0	109.0					12																	39761735		2202	4293	6495	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39761735C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.550G>T	12.37:g.39761735C>A	ENSP00000354878:p.Gly184*					KIF21A_uc001rlx.2_Nonsense_Mutation_p.G184*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.G184*|KIF21A_uc010skl.1_Nonsense_Mutation_p.G184*|KIF21A_uc001rma.1_Nonsense_Mutation_p.G184*	p.G184*	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			4	696	-		Lung NSC(34;0.179)|all_lung(34;0.213)	184			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.550G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	39	7.598795	0.98381	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000344501:G184X	G	-	1	0	KIF21A	38048002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.508000	0.67006	2.732000	0.93576	0.650000	0.86243	GGA		0.308	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		21	46	1	0	7.16444e-05	0.003954	8.12335e-05	21	46				
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:48238559C>A	ENST00000395324.2	-	10	1522	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	VDR_ENST00000229022.3_Silent_p.V418V|VDR_ENST00000535672.1_Silent_p.V386V|VDR_ENST00000550325.1_Silent_p.V468V|VDR_ENST00000549336.1_Silent_p.V418V			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	418	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V418V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACACTTCGAGCACAAGGGGCG	0.632																																							uc001rqm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1252-1254)GTG>GTT		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						98.0	84.0	88.0					12																	48238559		2203	4300	6503	SO:0001819	synonymous_variant	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238559C>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1254G>T	12.37:g.48238559C>A						VDR_uc001rql.2_Silent_p.V468V|VDR_uc001rqn.2_Silent_p.V418V|VDR_uc010slq.1_Silent_p.V386V	p.V418V	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1536	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	418			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.1254G>T	CCDS8757.1																																																																																				0.632	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			31	94	1	0	4.31634e-10	0.002445	5.80405e-10	31	94				
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:49373354C>A	ENST00000293549.3	+	2	244	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	70					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAAACAGCGGCGTCTGATACG	0.592																																							uc001rsu.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(208-210)CGT>AGT		wingless-type MMTV integration site family,							66.0	66.0	66.0					12																	49373354		2203	4300	6503	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373354C>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.208C>A	12.37:g.49373354C>A	ENSP00000293549:p.Arg70Ser						p.R70S	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	406	+			70					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.208C>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601123	0.46423	.	.	ENSG00000125084	ENST00000293549	T	0.76060	-0.99	4.84	2.96	0.34315	.	0.069095	0.56097	D	0.000025	T	0.68449	0.3002	L	0.59436	1.845	0.48571	D	0.999676	P	0.36282	0.546	B	0.33799	0.17	T	0.68827	-0.5306	10	0.66056	D	0.02	.	12.2125	0.54388	0.4647:0.5353:0.0:0.0	.	70	P04628	WNT1_HUMAN	S	70	ENSP00000293549:R70S	ENSP00000293549:R70S	R	+	1	0	WNT1	47659621	0.867000	0.29959	1.000000	0.80357	0.995000	0.86356	0.507000	0.22675	0.581000	0.29539	0.655000	0.94253	CGT		0.592	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			35	118	1	0	1.62957e-23	0.00874	2.74527e-23	35	118				
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:52827967G>T	ENST00000252245.5	-	1	342	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A41E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCCTGCTGCAGAGCGGGC	0.667																																							uc001saj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(121-123)GCA>GAA		keratin 75							28.0	32.0	31.0					12																	52827967		2202	4300	6502	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827967G>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.122C>A	12.37:g.52827967G>T	ENSP00000252245:p.Ala41Glu						p.A41E	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	144	-			41			Gly-rich.|Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.122C>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	5.477	0.272960	0.10349	.	.	ENSG00000170454	ENST00000252245	T	0.75704	-0.96	5.74	2.79	0.32731	.	1.395380	0.04645	N	0.406032	T	0.68458	0.3003	L	0.48642	1.525	0.09310	N	1	B	0.28233	0.204	B	0.21151	0.033	T	0.56768	-0.7924	10	0.66056	D	0.02	.	7.9328	0.29912	0.139:0.2323:0.6287:0.0	.	41	O95678	K2C75_HUMAN	E	41	ENSP00000252245:A41E	ENSP00000252245:A41E	A	-	2	0	KRT75	51114234	0.003000	0.15002	0.002000	0.10522	0.036000	0.12997	1.456000	0.35201	0.778000	0.33520	0.655000	0.94253	GCA		0.667	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		13	58	1	0	4.36969e-10	0.001855	5.84927e-10	13	58				
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:53189613C>A	ENST00000417996.2	-	1	288	c.214G>T	c.(214-216)Gct>Tct	p.A72S	KRT3_ENST00000309505.3_Missense_Mutation_p.A72S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A72S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCGCCAGCTGCCACGCTG	0.657																																							uc001say.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(214-216)GCT>TCT		keratin 3							74.0	101.0	92.0					12																	53189613		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189613C>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.214G>T	12.37:g.53189613C>A	ENSP00000413479:p.Ala72Ser						p.A72S	NM_057088	NP_476429	P12035	K2C3_HUMAN			1	280	-			72			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.214G>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	0.238	-1.016083	0.02078	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.87412	-2.25;-2.25	3.51	3.51	0.40186	.	.	.	.	.	T	0.73361	0.3577	N	0.16368	0.405	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.55573	-0.8120	9	0.06494	T	0.89	.	9.8081	0.40805	0.0:0.9005:0.0:0.0995	.	72	P12035	K2C3_HUMAN	S	72	ENSP00000413479:A72S;ENSP00000312206:A72S	ENSP00000312206:A72S	A	-	1	0	KRT3	51475880	0.308000	0.24509	0.917000	0.36280	0.627000	0.37826	0.183000	0.16919	1.873000	0.54277	0.555000	0.69702	GCT		0.657	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		35	101	1	0	4.01765e-15	0.009718	6.09327e-15	35	101				
CSAD	51380	broad.mit.edu	37	12	53555112	53555112	+	Missense_Mutation	SNP	G	G	T	rs201265883		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:53555112G>T	ENST00000444623.1	-	11	1031	c.764C>A	c.(763-765)cCc>cAc	p.P255H	CSAD_ENST00000453446.2_Missense_Mutation_p.P255H|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.P108H|CSAD_ENST00000379843.3_Missense_Mutation_p.P108H|CSAD_ENST00000267085.4_Missense_Mutation_p.P282H	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	255					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TGCCTCCAGGGGGTCAAAGGC	0.587																																					Ovarian(109;252 1546 16882 28524 44645)	Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2		NA																	0				ovary(1)	1						c.(763-765)CCC>CAC		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						94.0	96.0	95.0					12																	53555112		2203	4300	6503	SO:0001583	missense	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53555112G>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.764C>A	12.37:g.53555112G>T	ENSP00000415485:p.Pro255His					CSAD_uc001sbw.2_Missense_Mutation_p.P108H|CSAD_uc009zmt.2_Missense_Mutation_p.P37H|CSAD_uc010snx.1_Missense_Mutation_p.P282H|CSAD_uc001sbz.2_Missense_Mutation_p.P255H|CSAD_uc009zmu.2_Missense_Mutation_p.P108H|CSAD_uc001sca.3_RNA	p.P255H	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			10	890	-			255					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.764C>A	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495004	0.85069	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	4.42	4.42	0.53409	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051423	0.85682	D	0.000000	T	0.77818	0.4187	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.85296	0.1070	10	0.87932	D	0	-30.1181	16.3466	0.83134	0.0:0.0:1.0:0.0	.	282;255;108	Q9Y600-3;Q9Y600;Q9Y600-2	.;CSAD_HUMAN;.	H	344;108;282;108;255;216;255;108	ENSP00000369172:P108H;ENSP00000267085:P282H;ENSP00000369175:P108H;ENSP00000415485:P255H;ENSP00000410648:P255H;ENSP00000449373:P108H	ENSP00000267085:P282H	P	-	2	0	CSAD	51841379	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.091000	0.94151	2.471000	0.83476	0.555000	0.69702	CCC		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		5	202	1	0	0.00198382	0.001984	0.00215854	5	202				
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:55641435G>T	ENST00000343870.4	+	1	454	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122L(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAGCGCTATGTGGCCATCTG	0.463																																							uc010spg.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(364-366)GTG>TTG		olfactory receptor, family 6, subfamily C,							114.0	117.0	116.0					12																	55641435		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641435G>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.364G>T	12.37:g.55641435G>T	ENSP00000342836:p.Val122Leu						p.V122L	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	364	+			122			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000343870.4	37	c.364G>T	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	g	16.53	3.149065	0.57151	.	.	ENSG00000197706	ENST00000343870	T	0.00388	7.59	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00440	0.0014	M	0.62266	1.93	0.28591	N	0.909668	B	0.30914	0.3	B	0.35899	0.213	T	0.39396	-0.9616	10	0.72032	D	0.01	.	14.7213	0.69308	0.0:0.0:0.8543:0.1457	.	122	A6NCV1	O6C74_HUMAN	L	122	ENSP00000342836:V122L	ENSP00000342836:V122L	V	+	1	0	OR6C74	53927702	0.652000	0.27349	0.995000	0.50966	0.984000	0.73092	1.241000	0.32743	2.646000	0.89796	0.545000	0.68477	GTG		0.463	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			57	137	1	0	2.67592e-24	0.00361	4.55983e-24	57	137				
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:62929426C>T	ENST00000393632.2	+	14	2228	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	MON2_ENST00000393629.2_Silent_p.L613L|MON2_ENST00000280379.6_Silent_p.L613L|MON2_ENST00000393630.3_Silent_p.L613L|MON2_ENST00000546600.1_Silent_p.L613L|MON2_ENST00000552738.1_Intron|MON2_ENST00000552115.1_Silent_p.L613L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	613					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L613L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAGGTTCCCTGCCTCCCCA	0.408																																							uc001sre.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(1837-1839)CTG>TTG		MON2 homolog							140.0	130.0	133.0					12																	62929426		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62929426C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1837C>T	12.37:g.62929426C>T						MON2_uc009zqj.2_Silent_p.L613L|MON2_uc010ssl.1_Silent_p.L541L|MON2_uc010ssm.1_Intron|MON2_uc010ssn.1_Silent_p.L613L|MON2_uc001srf.2_Silent_p.L376L	p.L613L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	14	2228	+			613					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.1837C>T	CCDS31849.1																																																																																				0.408	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		27	70	0	0	0	0.003954	0	27	70				
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:66620547A>T	ENST00000261233.4	+	7	1119	c.698A>T	c.(697-699)gAg>gTg	p.E233V	IRAK3_ENST00000457197.2_Missense_Mutation_p.E172V	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.E233V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTTTACAGAGACTGAGAAG	0.348																																							uc001sth.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(697-699)GAG>GTG		interleukin-1 receptor-associated kinase 3							162.0	149.0	153.0					12																	66620547		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620547A>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.698A>T	12.37:g.66620547A>T	ENSP00000261233:p.Glu233Val					IRAK3_uc010ssy.1_Missense_Mutation_p.E172V	p.E233V	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	800	+			233			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.698A>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457913	0.63401	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.67345	-0.26;-0.26	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.260709	0.35466	N	0.003194	T	0.73513	0.3596	M	0.64260	1.97	0.48135	D	0.999594	D;D	0.58970	0.98;0.984	P;P	0.55303	0.663;0.773	T	0.74188	-0.3746	9	.	.	.	-14.7284	12.6654	0.56840	1.0:0.0:0.0:0.0	.	172;233	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	V	233;172	ENSP00000261233:E233V;ENSP00000409852:E172V	.	E	+	2	0	IRAK3	64906814	1.000000	0.71417	0.993000	0.49108	0.320000	0.28249	5.237000	0.65360	2.308000	0.77769	0.533000	0.62120	GAG		0.348	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			20	70	0	0	0	0.00278	0	20	70				
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:71054802G>T	ENST00000283228.2	-	12	2136	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	PTPRR_ENST00000440835.2_Missense_Mutation_p.Q317K|PTPRR_ENST00000549308.1_Missense_Mutation_p.Q317K|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q450K|PTPRR_ENST00000378778.1_Missense_Mutation_p.Q356K|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q562K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGAGGGGCTGGGCACTGTCT	0.532																																							uc001swi.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1684-1686)CAG>AAG		protein tyrosine phosphatase, receptor type, R							158.0	116.0	130.0					12																	71054802		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71054802G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1684C>A	12.37:g.71054802G>T	ENSP00000283228:p.Gln562Lys					PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Missense_Mutation_p.Q317K|PTPRR_uc009zrs.2_Missense_Mutation_p.Q411K|PTPRR_uc010stq.1_Missense_Mutation_p.Q450K|PTPRR_uc010str.1_3'UTR	p.Q562K	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	12	2100	-			562			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1684C>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609140	0.28623	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.27	5.27	0.74061	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.50627	D	0.000119	T	0.64627	0.2615	N	0.05574	-0.02	0.44409	D	0.997322	P;P;P	0.48089	0.79;0.884;0.905	B;B;B	0.37888	0.073;0.235;0.26	T	0.70124	-0.4958	10	0.02654	T	1	-11.4026	19.2427	0.93889	0.0:0.0:1.0:0.0	.	450;356;562	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	K	317;562;356;450;317	ENSP00000391750:Q317K;ENSP00000283228:Q562K;ENSP00000368054:Q356K;ENSP00000339605:Q450K;ENSP00000446943:Q317K	ENSP00000283228:Q562K	Q	-	1	0	PTPRR	69341069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.527000	0.81931	2.620000	0.88729	0.650000	0.86243	CAG		0.532	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		8	21	1	0	1.12685e-05	0.004482	1.31281e-05	8	21				
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	C	G	rs150530553		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:76740022C>G	ENST00000393262.3	-	2	1826	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.P581P(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TACCCATATTCGGTAACTTAC	0.373									Bardet-Biedl syndrome																														uc001syd.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1741-1743)CCG>CCC		Bardet-Biedl syndrome 10							106.0	101.0	103.0					12																	76740022		2203	4300	6503	SO:0001819	synonymous_variant	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740022C>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1743G>C	12.37:g.76740022C>G							p.P581P	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	1827	-			581					Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	c.1743G>C	CCDS9014.2																																																																																				0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		19	53	0	0	0	0.007413	0	19	53				
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:79679716G>T	ENST00000261205.4	+	5	973	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	SYT1_ENST00000457153.2_Missense_Mutation_p.D106Y|SYT1_ENST00000552744.1_Missense_Mutation_p.D106Y|SYT1_ENST00000393240.3_Missense_Mutation_p.D106Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	106					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.D106Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAACATGAAAGATGTAAAAGA	0.303																																							uc001sys.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(2)|ovary(1)	6						c.(316-318)GAT>TAT		synaptotagmin I							119.0	113.0	115.0					12																	79679716		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679716G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.316G>T	12.37:g.79679716G>T	ENSP00000261205:p.Asp106Tyr					SYT1_uc001syt.2_Missense_Mutation_p.D106Y|SYT1_uc001syu.2_Missense_Mutation_p.D106Y|SYT1_uc001syv.2_Missense_Mutation_p.D106Y	p.D106Y	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			6	987	+			106			Cytoplasmic (Potential).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.316G>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608393	0.87258	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.43688	0.95;0.95;0.94;0.95;0.94;0.95	5.63	5.63	0.86233	.	0.103405	0.64402	D	0.000003	T	0.56381	0.1981	L	0.59436	1.845	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.53593	0.73;0.73	T	0.57412	-0.7816	10	0.72032	D	0.01	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	106;106	Q6AI31;P21579	.;SYT1_HUMAN	Y	106	ENSP00000376932:D106Y;ENSP00000261205:D106Y;ENSP00000391056:D106Y;ENSP00000447575:D106Y;ENSP00000448861:D106Y;ENSP00000401559:D106Y	ENSP00000261205:D106Y	D	+	1	0	SYT1	78203847	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	GAT		0.303	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		15	24	1	0	8.60227e-14	0.004007	1.26894e-13	15	24				
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					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.R554R(2)		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						TCAGCCCAACCGGACCTGCAC	0.458																																							uc001tdc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1660-1662)CGG>AGG		plexin C1 precursor							147.0	156.0	153.0					12																	94613897		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94613897C>A	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.1660C>A	12.37:g.94613897C>A							p.R554R	NM_005761	NP_005752	O60486	PLXC1_HUMAN			6	1909	+			554			Extracellular (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.1660C>A	CCDS9049.1																																																																																				0.458	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			47	118	1	0	5.34276e-22	0.00361	8.84987e-22	47	118				
ELK3	2004	broad.mit.edu	37	12	96653534	96653534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:96653534C>T	ENST00000228741.3	+	4	1354	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ELK3_ENST00000552142.1_Missense_Mutation_p.P78L|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	343					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P343L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTTCTGACTCCGAGTCCACTG	0.527																																							uc001teo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1027-1029)CCG>CTG		ELK3 protein							114.0	111.0	112.0					12																	96653534		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96653534C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.1028C>T	12.37:g.96653534C>T	ENSP00000228741:p.Pro343Leu						p.P343L	NM_005230	NP_005221	P41970	ELK3_HUMAN			4	1307	+	all_cancers(2;0.00173)		343					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.1028C>T	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287845	0.59976	.	.	ENSG00000111145	ENST00000228741;ENST00000552142	T;T	0.52983	0.64;0.64	5.67	5.67	0.87782	.	0.094746	0.85682	D	0.000000	T	0.46983	0.1421	M	0.73217	2.22	0.50632	D	0.999884	P	0.45768	0.866	B	0.31337	0.128	T	0.59958	-0.7356	10	0.87932	D	0	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	343	P41970	ELK3_HUMAN	L	343;78	ENSP00000228741:P343L;ENSP00000449430:P78L	ENSP00000228741:P343L	P	+	2	0	ELK3	95177665	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.648000	0.61425	2.677000	0.91161	0.561000	0.74099	CCG		0.527	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		8	147	0	0	0	0.004482	0	8	147				
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:109936051T>C	ENST00000342494.3	+	11	1428	c.833T>C	c.(832-834)tTa>tCa	p.L278S	UBE3B_ENST00000280774.5_Missense_Mutation_p.L278S|UBE3B_ENST00000434735.2_Missense_Mutation_p.L278S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L278S(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCACTGTTTTAGAATCCCAT	0.413																																							uc001top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(832-834)TTA>TCA		ubiquitin protein ligase E3B							170.0	163.0	165.0					12																	109936051		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109936051T>C	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.833T>C	12.37:g.109936051T>C	ENSP00000340596:p.Leu278Ser					UBE3B_uc001toq.2_Missense_Mutation_p.L278S|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.L278S	p.L278S	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			11	1436	+			278					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.833T>C	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713530	0.68730	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.51071	1.07;0.72;1.33;1.07	5.81	5.81	0.92471	.	0.240638	0.39020	N	0.001484	T	0.48259	0.1490	L	0.43152	1.355	0.38946	D	0.958249	B	0.29612	0.251	B	0.37346	0.247	T	0.53872	-0.8377	10	0.87932	D	0	-33.2615	15.3799	0.74648	0.0:0.0:0.0:1.0	.	278	Q7Z3V4	UBE3B_HUMAN	S	278	ENSP00000391529:L278S;ENSP00000280774:L278S;ENSP00000443131:L278S;ENSP00000340596:L278S	ENSP00000280774:L278S	L	+	2	0	UBE3B	108420434	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.001000	0.76297	2.236000	0.73375	0.529000	0.55759	TTA		0.413	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		61	134	0	0	0	0.00361	0	61	134				
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:117715825C>T	ENST00000338101.4	-	8	1607	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	NOS1_ENST00000317775.6_Missense_Mutation_p.D535N|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D535N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCTCAGGGTCATTGCCGTTG	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(1603-1605)GAC>AAC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						78.0	84.0	82.0					12																	117715825		1922	4138	6060	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117715825C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1603G>A	12.37:g.117715825C>T	ENSP00000337459:p.Asp535Asn						p.D535N	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	9	2289	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		535						Missense_Mutation	SNP	ENST00000338101.4	37	c.1603G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184250	0.94885	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.26373	1.74;1.74	5.27	5.27	0.74061	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88310	2.945	0.80722	D	1	P	0.45212	0.853	P	0.59825	0.864	T	0.63808	-0.6553	10	0.87932	D	0	-42.5547	19.1369	0.93431	0.0:1.0:0.0:0.0	.	535	P29475	NOS1_HUMAN	N	535	ENSP00000320758:D535N;ENSP00000337459:D535N	ENSP00000320758:D535N	D	-	1	0	NOS1	116200208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.912000	0.69948	2.759000	0.94783	0.555000	0.69702	GAC		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	94	0	0	0	0.001984	0	5	94				
RSRC2	65117	broad.mit.edu	37	12	122990163	122990164	+	Nonsense_Mutation	DNP	GA	GA	AG			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:122990163_122990164GA>AG	ENST00000331738.7	-	10	1360_1361	c.1215_1216TC>CT	c.(1213-1218)gcTCag>gcCTag	p.Q406*	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q358*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406							poly(A) RNA binding (GO:0044822)	p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAAT	0.396																																							uc001ucr.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1213-1218)GCTCAG>GCCTAG		arginine/serine-rich coiled-coil 2 isoform a																																				SO:0001587	stop_gained	65117							g.chr12:122990163_122990164GA>AG	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1215_1216delinsAG	12.37:g.122990163_122990164delinsAG	ENSP00000330188:p.Gln406*					RSRC2_uc001uco.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001ucp.2_Nonsense_Mutation_p.Q347*|RSRC2_uc001ucq.2_Nonsense_Mutation_p.Q174*|RSRC2_uc001ucs.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001uct.2_Nonsense_Mutation_p.Q358*|RSRC2_uc001ucu.2_Nonsense_Mutation_p.Q407*	p.Q406*	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	10	1361_1362	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		406					Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	DNP	ENST00000331738.7	37	c.1215_1216TC>CT	CCDS31920.1																																																																																				0.396	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		43	99	0	0	0	0.004672	0	43	99				
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	G	T	rs368644087		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:123041966G>T	ENST00000333479.7	+	17	1485	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E399D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	436					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E436D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATATTGGAGAAACTGGCAT	0.383																																							uc001ucv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(1306-1308)GAG>GAT		Rough Deal homolog, centromere/kinetochore							114.0	109.0	110.0					12																	123041966		1876	4121	5997	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123041966G>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1308G>T	12.37:g.123041966G>T	ENSP00000328236:p.Glu436Asp					KNTC1_uc010taf.1_Missense_Mutation_p.E399D	p.E436D	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	17	1471	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		436					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.1308G>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136328	0.37728	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23348	1.91;2.48	5.38	3.55	0.40652	.	0.059427	0.64402	D	0.000002	T	0.37019	0.0988	L	0.41079	1.255	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.78314	0.991;0.923	T	0.03423	-1.1038	10	0.20046	T	0.44	-24.0122	11.7996	0.52120	0.1422:0.0:0.8578:0.0	.	399;436	E7ES84;P50748	.;KNTC1_HUMAN	D	399;436	ENSP00000397992:E399D;ENSP00000328236:E436D	ENSP00000328236:E436D	E	+	3	2	KNTC1	121607919	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.310000	0.51911	0.750000	0.32877	0.563000	0.77884	GAG		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			16	36	1	0	2.31682e-05	0.003163	2.67291e-05	16	36				
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132335487C>T	ENST00000360564.1	+	10	1582	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	MMP17_ENST00000535004.1_Missense_Mutation_p.R34C|MMP17_ENST00000535291.1_Missense_Mutation_p.R410C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	494					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R494C(2)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CTACTTCTTCCGTGGCCAGGA	0.657																																							uc001ujc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1480-1482)CGT>TGT		matrix metalloproteinase 17 preproprotein							31.0	33.0	32.0					12																	132335487		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132335487C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1480C>T	12.37:g.132335487C>T	ENSP00000353767:p.Arg494Cys					MMP17_uc001ujd.1_Missense_Mutation_p.R410C	p.R494C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1579	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		494			Hemopexin-like 4.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1480C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608828	0.66558	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000535004	T;T;T	0.02737	4.18;4.18;4.18	4.91	3.92	0.45320	Hemopexin/matrixin (2);	0.273612	0.32640	N	0.005833	T	0.12603	0.0306	M	0.79258	2.445	0.49915	D	0.999833	D	0.76494	0.999	D	0.64877	0.93	T	0.00219	-1.1907	10	0.87932	D	0	.	12.0511	0.53507	0.3084:0.6916:0.0:0.0	.	494	Q9ULZ9	MMP17_HUMAN	C	494;410;34	ENSP00000353767:R494C;ENSP00000441106:R410C;ENSP00000445620:R34C	ENSP00000353767:R494C	R	+	1	0	MMP17	130901440	1.000000	0.71417	0.996000	0.52242	0.714000	0.41099	4.449000	0.60034	2.282000	0.76494	0.491000	0.48974	CGT		0.657	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		11	33	0	0	0	0.001855	0	11	33				
EP400NL	347918	broad.mit.edu	37	12	132610920	132610920	+	IGR	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132610920G>T	ENST00000376625.4	+	0	3487				EP400NL_ENST00000475841.1_Splice_Site			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCATATTTCAGTTGCAAAAGA	0.358																																							uc001ujx.1		NA																	0					0						c.e7-1		Homo sapiens cDNA FLJ33915 fis, clone CTONG2016658.																																				SO:0001628	intergenic_variant	347918							g.chr12:132610920G>T	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251		12.37:g.132610920G>T														7		+								A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Splice_Site	SNP	ENST00000376625.4	37	c.1827_splice																																																																																					0.358	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613		6	7	1	0	0.00116845	0.001168	0.00127839	6	7				
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:30066847G>C	ENST00000380808.2	+	5	723	c.507G>C	c.(505-507)ctG>ctC	p.L169L	MTUS2_ENST00000542829.1_Silent_p.L79L|MTUS2_ENST00000431530.3_Silent_p.L1200L|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1190						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L1200L(2)|p.L169L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGCGGCTGTCATTGCAGG	0.363																																							uc001usl.3		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(3598-3600)CTG>CTC		hypothetical protein LOC23281 isoform a							83.0	77.0	79.0					13																	30066847		1826	4082	5908	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30066847G>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.507G>C	13.37:g.30066847G>C						MTUS2_uc001usm.3_Silent_p.L169L|MTUS2_uc010aau.2_Silent_p.L79L	p.L1200L	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			10	3658	+			1190			Potential.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	c.3600G>C	CCDS41874.1																																																																																				0.363	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		14	48	0	0	0	0.003163	0	14	48				
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:48835306C>T	ENST00000378565.5	+	6	950	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ITM2B_ENST00000378549.5_Silent_p.F143F	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)	p.F249F(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.284																																							uc001vbz.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(745-747)TTC>TTT		integral membrane protein 2B							55.0	59.0	58.0					13																	48835306		2203	4299	6502	SO:0001819	synonymous_variant	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48835306C>T	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.747C>T	13.37:g.48835306C>T							p.F249F	NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	6	970	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	249			Lumenal (Potential).		Q5W0A3|Q96B24|Q9NYH1	Silent	SNP	ENST00000378565.5	37	c.747C>T	CCDS9409.1																																																																																				0.284	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		4	41	0	0	0	0.009096	0	4	41				
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:101997748G>T	ENST00000251127.6	-	7	749	c.668C>A	c.(667-669)gCt>gAt	p.A223D	NALCN_ENST00000376196.3_Missense_Mutation_p.A223D|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.A223D(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTGGAATAGCTAAACTATT	0.398																																							uc001vox.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(667-669)GCT>GAT		voltage gated channel like 1							128.0	112.0	118.0					13																	101997748		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997748G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.668C>A	13.37:g.101997748G>T	ENSP00000251127:p.Ala223Asp					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.A223D|NALCN_uc001vpa.2_Missense_Mutation_p.A223D	p.A223D	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	857	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		223			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.668C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250088	0.95305	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98585	-4.65;-5.01	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98858	0.9614	M	0.75264	2.295	0.80722	D	1	D;D	0.63046	0.992;0.965	D;P	0.70487	0.969;0.857	D	0.99797	1.1034	10	0.66056	D	0.02	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	223;223	F2Z323;Q8IZF0	.;NALCN_HUMAN	D	223	ENSP00000251127:A223D;ENSP00000365367:A223D	ENSP00000251127:A223D	A	-	2	0	NALCN	100795749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.701000	0.92244	0.650000	0.86243	GCT		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		18	53	1	0	2.35188e-11	0.006122	3.25097e-11	18	53				
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:102367988G>C	ENST00000376180.3	+	11	1688	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	RP11-397O8.7_ENST00000606869.1_lincRNA|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G349A|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G397A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	490	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.G490A(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTTGGCTCAGAATAT	0.383																																							uc001vpb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1468-1470)GGC>GCC		integrin, beta-like 1 (with EGF-like repeat							237.0	226.0	230.0					13																	102367988		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102367988G>C	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1469G>C	13.37:g.102367988G>C	ENSP00000365351:p.Gly490Ala					ITGBL1_uc010agb.2_Missense_Mutation_p.G441A|ITGBL1_uc001vpc.3_Missense_Mutation_p.G349A	p.G490A	NM_004791	NP_004782	O95965	ITGBL_HUMAN			11	1688	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		490			X.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1469G>C	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859580	0.91433	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;T;D	0.84298	-1.83;-0.87;-1.6	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.85401	0.1131	10	0.02654	T	1	.	20.1219	0.97964	0.0:0.0:1.0:0.0	.	349;490	B3KTP1;O95965	.;ITGBL_HUMAN	A	490;398;349;349;397	ENSP00000365351:G490A;ENSP00000439903:G349A;ENSP00000365332:G397A	ENSP00000365332:G397A	G	+	2	0	ITGBL1	101165989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	2.758000	0.94735	0.650000	0.86243	GGC		0.383	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		49	141	0	0	0	0.00361	0	49	141				
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:111130348A>G	ENST00000360467.5	+	30	2731		c.e30-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGATTCCTGCAGGAAGCCAAG	0.582																																							uc001vqx.2		NA																	2	Unknown(2)		lung(2)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.e30-2		alpha 2 type IV collagen preproprotein							30.0	34.0	33.0					13																	111130348		1926	4132	6058	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130348A>G	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2426-1A>G	13.37:g.111130348A>G							p.G809_splice	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2715	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)						Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.2426_splice	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	6.221	0.408956	0.11812	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0291	0.42090	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A2	109928349	1.000000	0.71417	0.987000	0.45799	0.158000	0.22134	4.864000	0.62990	1.686000	0.51046	0.408000	0.27601	.		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Intron	13	64	0	0	0	0.001855	0	13	64				
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:114762162G>C	ENST00000334062.7	-	21	2107	c.1986C>G	c.(1984-1986)tgC>tgG	p.C662W	RASA3_ENST00000389544.4_Missense_Mutation_p.C630W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.C662W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGCCTCCACGCAGTTGTTGG	0.607																																							uc001vui.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|skin(1)	4						c.(1984-1986)TGC>TGG		RAS p21 protein activator 3							210.0	142.0	165.0					13																	114762162		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114762162G>C		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1986C>G	13.37:g.114762162G>C	ENSP00000335029:p.Cys662Trp					RASA3_uc010tkk.1_Missense_Mutation_p.C630W|RASA3_uc001vuj.2_Missense_Mutation_p.C279W	p.C662W	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		21	2117	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	662			PH.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1986C>G	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366045	0.61513	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.93247	-3.19;-3.19	5.37	-4.89	0.03103	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93317	0.6689	9	.	.	.	.	14.5768	0.68255	0.4347:0.0:0.5653:0.0	.	662	Q14644	RASA3_HUMAN	W	662;630	ENSP00000335029:C662W;ENSP00000374195:C630W	.	C	-	3	2	RASA3	113780264	0.386000	0.25180	0.967000	0.41034	0.969000	0.65631	-0.200000	0.09478	-0.871000	0.04042	-0.258000	0.10820	TGC		0.607	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		25	93	0	0	0	0.003954	0	25	93				
POTEG	404785	broad.mit.edu	37	14	19553769	19553769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:19553769G>T	ENST00000409832.3	+	1	405	c.353G>T	c.(352-354)gGc>gTc	p.G118V		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	118										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCAAAGTGGGCCCTTGGGGA	0.597																																							uc001vuz.1		NA																	0				ovary(1)	1						c.(352-354)GGC>GTC		POTE ankyrin domain family, member G							391.0	425.0	413.0					14																	19553769		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553769G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.353G>T	14.37:g.19553769G>T	ENSP00000386971:p.Gly118Val					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.G118V	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	405	+			118					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.353G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.534	0.466814	0.12402	.	.	ENSG00000222036	ENST00000409832	T	0.28069	1.63	0.659	-1.32	0.09201	.	.	.	.	.	T	0.33702	0.0872	L	0.43923	1.385	0.09310	N	1	P	0.45715	0.865	P	0.55577	0.779	T	0.24870	-1.0148	8	0.56958	D	0.05	.	.	.	.	.	118	Q6S5H5	POTEG_HUMAN	V	118	ENSP00000386971:G118V	ENSP00000386971:G118V	G	+	2	0	POTEG	18623769	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-1.116000	0.02969	-1.326000	0.01283	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		65	652	1	0	3.29585e-21	0.00361	5.38414e-21	65	652				
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:20692109C>A	ENST00000315519.2	+	1	319	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463																																							uc010tlc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(241-243)CTG>ATG		olfactory receptor, family 11, subfamily H,							114.0	103.0	107.0					14																	20692109		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692109C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.241C>A	14.37:g.20692109C>A	ENSP00000319071:p.Leu81Met						p.L81M	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	241	+	all_cancers(95;0.00108)		81			Helical; Name=2; (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.241C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.305669	0.40795	.	.	ENSG00000176219	ENST00000315519	T	0.14391	2.51	4.77	-3.18	0.05186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001596	T	0.47116	0.1428	H	0.98218	4.175	0.20403	N	0.999904	D	0.89917	1.0	D	0.75484	0.986	T	0.48636	-0.9018	10	0.87932	D	0	.	12.6178	0.56586	0.0:0.6295:0.0:0.3705	.	81	Q8NGC7	O11H6_HUMAN	M	81	ENSP00000319071:L81M	ENSP00000319071:L81M	L	+	1	2	OR11H6	19761949	0.002000	0.14202	0.947000	0.38551	0.936000	0.57629	-0.085000	0.11250	-0.472000	0.06881	-0.542000	0.04241	CTG		0.463	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			35	76	1	0	3.67414e-24	0.002445	6.24288e-24	35	76				
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468201G>A	ENST00000299088.6	-	2	461	c.32C>T	c.(31-33)cCt>cTt	p.P11L	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000341470.4_Missense_Mutation_p.P11L|C14orf93_ENST00000406429.2_Missense_Mutation_p.P11L|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.P11L|C14orf93_ENST00000397382.4_Missense_Mutation_p.P11L	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	11						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.P11L(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACTGGGAGGGGAGAAGAG	0.592																																							uc001wib.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(31-33)CCT>CTT		hypothetical protein LOC60686 precursor							65.0	68.0	67.0					14																	23468201		2201	4298	6499	SO:0001583	missense	60686					extracellular region		g.chr14:23468201G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.32C>T	14.37:g.23468201G>A	ENSP00000299088:p.Pro11Leu					C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Missense_Mutation_p.P11L|C14orf93_uc001wig.2_Missense_Mutation_p.P11L|C14orf93_uc001wih.2_Missense_Mutation_p.P11L|C14orf93_uc001wie.2_Missense_Mutation_p.P11L|C14orf93_uc001wia.3_Missense_Mutation_p.P11L|C14orf93_uc001wif.2_Intron	p.P11L	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	342	-	all_cancers(95;3.3e-05)		11					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.32C>T	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852466	0.91355	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098;ENST00000555998;ENST00000556419	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.71685	0.3369	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74225	-0.3734	10	0.87932	D	0	-42.2981	18.6391	0.91389	0.0:0.0:1.0:0.0	.	11;11	Q9H972;Q9H972-2	CN093_HUMAN;.	L	11	ENSP00000299088:P11L;ENSP00000341353:P11L;ENSP00000380535:P11L;ENSP00000380538:P11L;ENSP00000384768:P11L;ENSP00000380536:P11L;ENSP00000450771:P11L;ENSP00000452036:P11L;ENSP00000451111:P11L;ENSP00000451456:P11L;ENSP00000450866:P11L;ENSP00000451879:P11L	ENSP00000299088:P11L	P	-	2	0	C14orf93	22538041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.785000	0.68998	2.709000	0.92574	0.655000	0.94253	CCT		0.592	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		28	105	0	0	0	0.002096	0	28	105				
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468206G>A	ENST00000299088.6	-	2	456	c.27C>T	c.(25-27)ttC>ttT	p.F9F	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000341470.4_Silent_p.F9F|C14orf93_ENST00000406429.2_Silent_p.F9F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Silent_p.F9F|C14orf93_ENST00000397382.4_Silent_p.F9F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	9						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.F9F(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGGAGGGGAGAAGAGAATGG	0.587																																							uc001wib.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(25-27)TTC>TTT		hypothetical protein LOC60686 precursor							65.0	67.0	66.0					14																	23468206		2202	4298	6500	SO:0001819	synonymous_variant	60686					extracellular region		g.chr14:23468206G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.27C>T	14.37:g.23468206G>A						C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Silent_p.F9F|C14orf93_uc001wig.2_Silent_p.F9F|C14orf93_uc001wih.2_Silent_p.F9F|C14orf93_uc001wie.2_Silent_p.F9F|C14orf93_uc001wia.3_Silent_p.F9F|C14orf93_uc001wif.2_Intron	p.F9F	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	337	-	all_cancers(95;3.3e-05)		9					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	c.27C>T	CCDS9583.1																																																																																				0.587	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		29	109	0	0	0	0.002445	0	29	109				
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:42356354C>A	ENST00000298119.4	+	3	1715	c.526C>A	c.(526-528)Ctt>Att	p.L176I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L176I|LRFN5_ENST00000554171.1_Missense_Mutation_p.L176I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	176						integral component of membrane (GO:0016021)		p.L176I(3)		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)		CTTGCATACCCTTAGTTTGGA	0.408										HNSCC(30;0.082)																													uc001wvm.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(526-528)CTT>ATT		leucine rich repeat and fibronectin type III							85.0	71.0	76.0					14																	42356354		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356354C>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.526C>A	14.37:g.42356354C>A	ENSP00000298119:p.Leu176Ile	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.L176I	p.L176I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1724	+			176			Extracellular (Potential).|LRR 6.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.526C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635306	0.67130	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.72835	-0.69;-0.69;-0.69	5.56	5.56	0.83823	.	0.000000	0.49305	D	0.000148	D	0.84804	0.5553	M	0.83692	2.655	0.58432	D	0.999999	P;D	0.65815	0.84;0.995	P;D	0.67382	0.657;0.951	D	0.86549	0.1833	10	0.66056	D	0.02	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	176;176	G3V364;Q96NI6	.;LRFN5_HUMAN	I	176	ENSP00000298119:L176I;ENSP00000451897:L176I;ENSP00000451067:L176I	ENSP00000298119:L176I	L	+	1	0	LRFN5	41426104	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	CTT		0.408	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		8	39	1	0	0.00307968	0.00308	0.0033265	8	39				
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44974151A>T	ENST00000340446.4	-	1	2331	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A680A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTGAACTTCAGCAGGGGCCT	0.612																																							uc001wvn.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2038-2040)GCT>GCA		fibrous sheath CABYR binding protein							28.0	34.0	32.0					14																	44974151		2200	4300	6500	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974151A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2040T>A	14.37:g.44974151A>T							p.A680A	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2349	-			680			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.2040T>A	CCDS9679.1																																																																																				0.612	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		15	36	0	0	0	0.003163	0	15	36				
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44976031C>A	ENST00000340446.4	-	1	451	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E54*(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCTGAAGCTCAGAAGATACT	0.413																																							uc001wvn.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(160-162)GAG>TAG		fibrous sheath CABYR binding protein							161.0	159.0	159.0					14																	44976031		2203	4300	6503	SO:0001587	stop_gained	84075					cilium		g.chr14:44976031C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.160G>T	14.37:g.44976031C>A	ENSP00000344579:p.Glu54*						p.E54*	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	469	-			54					Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	c.160G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748776	0.89753	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	5.49	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.5715	12.483	0.55854	0.0:0.177:0.823:0.0	.	.	.	.	X	54	.	ENSP00000344579:E54X	E	-	1	0	FSCB	44045781	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	3.378000	0.52432	1.467000	0.48044	-0.321000	0.08615	GAG		0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		47	173	1	0	9.58827e-17	0.00361	1.50419e-16	47	173				
MIS18BP1	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:45711253C>A	ENST00000310806.4	-	4	1585	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	376					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTTTAAGTCCATTTGTAAC	0.318																																						Ovarian(187;620 2054 7273 12043 20532)	uc001wwf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GGA>GTA		chromosome 14 open reading frame 106							59.0	68.0	65.0					14																	45711253		2202	4298	6500	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711253C>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1127G>T	14.37:g.45711253C>A	ENSP00000309790:p.Gly376Val					C14orf106_uc010anh.2_RNA	p.G376V	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			4	1586	-			376					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.1127G>T	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.567637	0.00895	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.12	0.334	0.15948	.	0.673920	0.13774	N	0.363662	T	0.08582	0.0213	N	0.19112	0.55	0.09310	N	0.999999	B	0.20052	0.041	B	0.15484	0.013	T	0.30031	-0.9992	10	0.33940	T	0.23	-3.7022	3.5462	0.07829	0.1716:0.4045:0.0:0.4239	.	376	Q6P0N0	M18BP_HUMAN	V	376	ENSP00000309790:G376V	ENSP00000309790:G376V	G	-	2	0	MIS18BP1	44781003	0.000000	0.05858	0.087000	0.20705	0.018000	0.09664	-0.996000	0.03709	0.126000	0.18424	-0.216000	0.12614	GGA		0.318	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			23	69	1	0	4.16121e-05	0.00278	4.73627e-05	23	69				
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:50801307A>G	ENST00000216378.2	-	8	1418	c.774T>C	c.(772-774)tcT>tcC	p.S258S	CDKL1_ENST00000356146.1_5'Flank|CDKL1_ENST00000395834.1_Silent_p.S258S|ATP5S_ENST00000358473.1_Intron	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S258S(4)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGGCAGGATAAGAGATGTTTG	0.378																																							uc001wxz.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|stomach(1)	2						c.(772-774)TCT>TCC		cyclin-dependent kinase-like 1							172.0	179.0	177.0					14																	50801307		2203	4300	6503	SO:0001819	synonymous_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50801307A>G	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.774T>C	14.37:g.50801307A>G						ATP5S_uc010ant.1_Intron	p.S258S	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			7	802	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		257			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000216378.2	37	c.774T>C		.	.	.	.	.	.	.	.	.	.	A	7.924	0.739256	0.15642	.	.	ENSG00000100490	ENST00000525911	.	.	.	5.39	0.896	0.19253	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26087	-1.0113	4	.	.	.	.	4.1222	0.10111	0.4734:0.0:0.2977:0.2289	.	.	.	.	P	39	.	.	L	-	2	0	CDKL1	49871057	0.005000	0.15991	0.999000	0.59377	0.879000	0.50718	-0.231000	0.09069	0.217000	0.20800	0.523000	0.50628	CTT		0.378	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			83	239	0	0	0	0.00361	0	83	239				
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:60072161C>A	ENST00000267484.5	-	5	2372	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	RTN1_ENST00000557422.1_Intron|RTN1_ENST00000395090.1_Silent_p.L96L|RTN1_ENST00000342503.4_Silent_p.L111L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	679	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.L679L(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTAGAACTGCAGGCAGTCCG	0.473																																							uc001xen.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(2035-2037)CTG>CTT		reticulon 1 isoform A							107.0	92.0	97.0					14																	60072161		2203	4300	6503	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60072161C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2037G>T	14.37:g.60072161C>A						RTN1_uc001xem.1_Silent_p.L259L|RTN1_uc001xek.1_Silent_p.L111L|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.L96L	p.L679L	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	5	2246	-			679			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.2037G>T	CCDS9740.1																																																																																				0.473	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			29	77	1	0	7.01153e-11	0.007291	9.62463e-11	29	77				
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:67579829G>T	ENST00000315266.5	+	15	2589	c.1468G>T	c.(1468-1470)Gtc>Ttc	p.V490F	GPHN_ENST00000478722.1_Missense_Mutation_p.V523F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V459F|GPHN_ENST00000543237.1_Missense_Mutation_p.V536F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	490	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.V523F(2)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTGTAGGTGTCACAGAGGT	0.468			T	MLL	AL																																		uc001xiy.2		NA		Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1468-1470)GTC>TTC		gephyrin isoform 2							101.0	95.0	97.0					14																	67579829		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67579829G>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1468G>T	14.37:g.67579829G>T	ENSP00000312771:p.Val490Phe					GPHN_uc001xix.2_Missense_Mutation_p.V523F|GPHN_uc010tss.1_Missense_Mutation_p.V536F|GPHN_uc010tst.1_Missense_Mutation_p.V459F|GPHN_uc010tsu.1_Missense_Mutation_p.V413F	p.V490F	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	15	2589	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	490			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1468G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877505	0.72294	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	.	.	.	5.74	4.86	0.63082	MoeA, N-terminal and linker domain (1);Molybdopterin binding (1);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	L	0.52126	1.63	0.80722	D	1	B;P;B;P	0.38148	0.054;0.62;0.058;0.466	B;P;B;B	0.46659	0.2;0.523;0.098;0.4	T	0.61907	-0.6966	9	0.30854	T	0.27	-9.8207	14.5107	0.67784	0.07:0.0:0.93:0.0	.	459;536;490;523	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	490;523;536;459;15	.	ENSP00000303019:V459F	V	+	1	0	GPHN	66649582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	1.430000	0.47334	0.655000	0.94253	GTC		0.468	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		8	76	1	0	1.26484e-09	0.00308	1.67423e-09	8	76				
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:72165754C>T	ENST00000555818.1	+	11	3779	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S619F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1144F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1144					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.S1144F(2)		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)		TTAGCAAGATCCCAGTGTCGG	0.488																																							uc001xms.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(3430-3432)TCC>TTC		signal-induced proliferation-associated 1 like							154.0	140.0	145.0					14																	72165754		2203	4300	6503	SO:0001583	missense	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.chr14:72165754C>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.3431C>T	14.37:g.72165754C>T	ENSP00000450832:p.Ser1144Phe					SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1144F|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S619F	p.S1144F	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)	11	3779	+			1144					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3431C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244222	0.59103	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.58	5.58	0.84498	.	0.167006	0.56097	N	0.000039	T	0.71533	0.3351	L	0.59436	1.845	0.49389	D	0.999783	D;P;D;D;P	0.63880	0.986;0.94;0.993;0.986;0.94	P;P;P;P;P	0.61201	0.742;0.462;0.885;0.742;0.462	T	0.68868	-0.5295	10	0.39692	T	0.17	-18.6838	19.5831	0.95478	0.0:1.0:0.0:0.0	.	619;1144;619;1144;1144	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	1144;1144;1144;619	ENSP00000370630:S1144F;ENSP00000450832:S1144F;ENSP00000351352:S1144F;ENSP00000440682:S619F	ENSP00000351352:S1144F	S	+	2	0	SIPA1L1	71235507	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.359000	0.66074	2.641000	0.89580	0.563000	0.77884	TCC		0.488	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		44	129	0	0	0	0.00874	0	44	129				
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:94931156G>A	ENST00000380365.3	-	4	1016	c.938C>T	c.(937-939)tCt>tTt	p.S313F	SERPINA9_ENST00000448305.2_Missense_Mutation_p.S233F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S295F|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S331F|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S182F|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S231F			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	313					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S331F(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTAGGAGGCAGAAATGGAAAA	0.463																																							uc001ydf.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)|central_nervous_system(1)	2						c.(991-993)TCT>TTT		serine (or cysteine) proteinase inhibitor, clade							79.0	71.0	74.0					14																	94931156		1891	4116	6007	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94931156G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.938C>T	14.37:g.94931156G>A	ENSP00000369723:p.Ser313Phe					SERPINA9_uc001yde.2_Missense_Mutation_p.S231F|SERPINA9_uc010avc.2_Missense_Mutation_p.S182F|SERPINA9_uc001ydg.2_Missense_Mutation_p.S295F|SERPINA9_uc001ydh.1_Missense_Mutation_p.S331F|SERPINA9_uc001ydi.1_Missense_Mutation_p.S295F	p.S331F	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	4	1153	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	313					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.992C>T		.	.	.	.	.	.	.	.	.	.	G	15.87	2.961147	0.53400	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	3.96	3.96	0.45880	Serpin domain (3);	0.226654	0.32231	N	0.006381	D	0.95137	0.8424	H	0.95712	3.71	0.32292	N	0.566232	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.999;0.979;0.999	D	0.94386	0.7609	10	0.87932	D	0	.	7.17	0.25712	0.0955:0.1753:0.7292:0.0	.	295;313;233;331;231	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	F	233;231;182;331;313;295	ENSP00000414092:S233F;ENSP00000298845:S231F;ENSP00000409012:S182F;ENSP00000337133:S331F;ENSP00000369723:S313F;ENSP00000445476:S295F	ENSP00000298845:S231F	S	-	2	0	SERPINA9	94000909	0.983000	0.35010	0.999000	0.59377	0.960000	0.62799	1.620000	0.36976	2.226000	0.72624	0.555000	0.69702	TCT		0.463	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		33	82	0	0	0	0.003271	0	33	82				
SERPINA12	145264	broad.mit.edu	37	14	94962881	94962881	+	Missense_Mutation	SNP	C	C	T	rs372191209		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:94962881C>T	ENST00000341228.2	-	4	1529	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G245D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	245					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTGGTATATGCCACTACGGAA	0.438																																							uc001ydj.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(733-735)GGC>GAC		serine (or cysteine) proteinase inhibitor, clade							181.0	172.0	175.0					14																	94962881		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962881C>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.734G>A	14.37:g.94962881C>T	ENSP00000342109:p.Gly245Asp						p.G245D	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1530	-			245						Missense_Mutation	SNP	ENST00000341228.2	37	c.734G>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272767	0.40194	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88818	-2.43;-2.43	5.6	5.6	0.85130	Serpin domain (3);	0.000000	0.64402	D	0.000008	D	0.88194	0.6371	L	0.51914	1.62	0.46336	D	0.998998	P	0.37824	0.609	B	0.42692	0.395	D	0.86609	0.1871	10	0.34782	T	0.22	.	15.9224	0.79586	0.0:0.8649:0.1351:0.0	.	245	Q8IW75	SPA12_HUMAN	D	245	ENSP00000451738:G245D;ENSP00000342109:G245D	ENSP00000342109:G245D	G	-	2	0	SERPINA12	94032634	0.605000	0.26941	0.231000	0.23993	0.167000	0.22549	3.952000	0.56691	2.631000	0.89168	0.561000	0.74099	GGC		0.438	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		5	221	0	0	0	0.000602	0	5	221				
NPAP1	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:24921921C>A	ENST00000329468.2	+	1	1381	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	303	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P303T(2)									AAAGAGGATGCCTGATGAGAA	0.572																																							uc001ywo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(907-909)CCT>ACT		hypothetical protein LOC23742							52.0	51.0	52.0					15																	24921921		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921921C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.907C>A	15.37:g.24921921C>A	ENSP00000333735:p.Pro303Thr						p.P303T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1381	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	303			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.907C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.171	1.021260	0.19433	.	.	ENSG00000185823	ENST00000329468	T	0.10668	2.85	1.82	1.82	0.25136	.	1.547970	0.04617	N	0.401221	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	P	0.51933	0.949	P	0.50440	0.641	T	0.31806	-0.9930	10	0.56958	D	0.05	.	7.1176	0.25424	0.0:1.0:0.0:0.0	.	303	Q9NZP6	CO002_HUMAN	T	303	ENSP00000333735:P303T	ENSP00000333735:P303T	P	+	1	0	C15orf2	22473014	0.001000	0.12720	0.002000	0.10522	0.089000	0.18198	1.107000	0.31110	1.317000	0.45149	0.205000	0.17691	CCT		0.572	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		25	77	1	0	1.64293e-13	0.00333	2.40558e-13	25	77				
GABRA5	2558	broad.mit.edu	37	15	27185175	27185175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:27185175G>T	ENST00000335625.5	+	9	1716	c.828G>T	c.(826-828)caG>caT	p.Q276H	GABRA5_ENST00000400081.3_Missense_Mutation_p.Q276H|GABRA5_ENST00000355395.5_Missense_Mutation_p.Q276H|GABRB3_ENST00000541819.2_5'Flank	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	276					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|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)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Q276H(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCTTATCACAGGTGTCCTTTT	0.493																																							uc001zbd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(826-828)CAG>CAT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						109.0	103.0	105.0					15																	27185175		1972	4170	6142	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185175G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.828G>T	15.37:g.27185175G>T	ENSP00000335592:p.Gln276His					GABRB3_uc001zbb.2_5'Flank	p.Q276H	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1167	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	276			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.828G>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423335	0.62733	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.81908	-1.55;-1.55;-1.55	5.2	2.25	0.28309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.68593	2.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.85187	0.1007	10	0.87932	D	0	.	6.079	0.19931	0.4977:0.0:0.5023:0.0	.	276	P31644	GBRA5_HUMAN	H	276	ENSP00000335592:Q276H;ENSP00000347557:Q276H;ENSP00000382953:Q276H	ENSP00000335592:Q276H	Q	+	3	2	GABRA5	24767921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.794000	0.26958	0.555000	0.29079	0.561000	0.74099	CAG		0.493	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			10	44	1	0	4.68919e-08	0.008291	5.97998e-08	10	44				
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:28230275C>A	ENST00000354638.3	-	13	1454	c.1299G>T	c.(1297-1299)gcG>gcT	p.A433A	OCA2_ENST00000353809.5_Silent_p.A409A|OCA2_ENST00000382996.2_Silent_p.A433A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGGACGGCCGCGATGAGAC	0.602									Oculocutaneous Albinism																														uc001zbh.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|pancreas(1)	5						c.(1297-1299)GCG>GCT		oculocutaneous albinism II							155.0	109.0	125.0					15																	28230275		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230275C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1299G>T	15.37:g.28230275C>A						OCA2_uc010ayv.2_Silent_p.A409A	p.A433A	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1409	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1299G>T	CCDS10020.1																																																																																				0.602	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		22	34	1	0	8.10497e-08	0.010504	1.02261e-07	22	34				
NUTM1	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:34640257C>A	ENST00000333756.4	+	2	259	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	NUTM1_ENST00000438749.3_Missense_Mutation_p.S53Y|NUTM1_ENST00000537011.1_Missense_Mutation_p.S63Y	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	35	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S35Y(2)									CCACCAACTTCTGACCCACCA	0.572																																							uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	2	Substitution - Missense(2)		lung(2)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(103-105)TCT>TAT		nuclear protein in testis							129.0	118.0	122.0					15																	34640257		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640257C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.104C>A	15.37:g.34640257C>A	ENSP00000329448:p.Ser35Tyr					C15orf55_uc010ucc.1_Missense_Mutation_p.S63Y|C15orf55_uc010ucd.1_Missense_Mutation_p.S53Y	p.S35Y	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	259	+		all_lung(180;2.78e-08)	35			Pro-rich.		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.104C>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205398	0.39003	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25414	1.8;1.8;1.8	5.69	3.81	0.43845	Nuclear Testis  protein, N-terminal (1);	0.571867	0.15917	N	0.238328	T	0.21427	0.0516	N	0.22421	0.69	0.09310	N	1	D;D;D	0.56287	0.975;0.969;0.975	P;B;P	0.48334	0.574;0.438;0.574	T	0.05550	-1.0878	10	0.72032	D	0.01	.	7.5931	0.28033	0.0:0.8141:0.0:0.1859	.	53;63;35	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Y	63;53;35;35	ENSP00000444896:S63Y;ENSP00000407031:S53Y;ENSP00000329448:S35Y	ENSP00000329448:S35Y	S	+	2	0	C15orf55	32427549	0.004000	0.15560	0.002000	0.10522	0.006000	0.05464	1.948000	0.40303	1.407000	0.46875	0.655000	0.94253	TCT		0.572	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		54	136	1	0	9.22156e-22	0.00361	1.52323e-21	54	136				
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:45654417T>C	ENST00000396659.3	-	9	1501	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	388					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.I388V(2)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	ATGGTAGTGATACCTGCATTG	0.478																																							uc001zvc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1162-1164)ATC>GTC		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						76.0	62.0	67.0					15																	45654417		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45654417T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1162A>G	15.37:g.45654417T>C	ENSP00000379895:p.Ile388Val					GATM_uc001zvb.2_Missense_Mutation_p.I259V	p.I388V	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	9	1491	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	388					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.1162A>G	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940662	0.73557	.	.	ENSG00000171766	ENST00000396659	T	0.46451	0.87	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.72894	2.215	0.80722	D	1	P	0.50819	0.939	P	0.54706	0.759	T	0.52290	-0.8595	10	0.28530	T	0.3	-13.835	12.9288	0.58275	0.0:0.0:0.0:1.0	.	388	P50440	GATM_HUMAN	V	388	ENSP00000379895:I388V	ENSP00000379895:I388V	I	-	1	0	GATM	43441709	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.459000	0.80802	2.107000	0.64212	0.533000	0.62120	ATC		0.478	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		8	19	0	0	0	0.00308	0	8	19				
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:57212142A>T	ENST00000267811.5	+	2	335	c.31A>T	c.(31-33)Ata>Tta	p.I11L	ZNF280D_ENST00000559000.1_5'Flank|TCF12_ENST00000452095.2_Missense_Mutation_p.I11L|TCF12_ENST00000557843.1_Missense_Mutation_p.I11L|TCF12_ENST00000333725.5_Missense_Mutation_p.I11L|TCF12_ENST00000438423.2_Missense_Mutation_p.I11L|ZNF280D_ENST00000561122.1_5'Flank	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	11					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.I11L(6)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CATGGCCGCTATAGGGACCGA	0.547			T	TEC	extraskeletal myxoid chondrosarcoma																																		uc002aec.2		NA		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		6	Substitution - Missense(6)		lung(6)	central_nervous_system(5)|ovary(2)|lung(1)	8						c.(31-33)ATA>TTA		transcription factor 12 isoform b							159.0	146.0	151.0					15																	57212142		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57212142A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.31A>T	15.37:g.57212142A>T	ENSP00000267811:p.Ile11Leu					ZNF280D_uc002adw.1_5'Flank|TCF12_uc010ugm.1_Missense_Mutation_p.I63L|TCF12_uc010ugn.1_Missense_Mutation_p.I11L|TCF12_uc002aea.2_Missense_Mutation_p.I11L|TCF12_uc010bfs.2_5'UTR|TCF12_uc002aeb.2_Missense_Mutation_p.I11L|TCF12_uc002aed.2_Missense_Mutation_p.I11L|LOC145783_uc002adz.1_5'Flank	p.I11L	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	2	315	+		Colorectal(260;0.0907)	11					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.31A>T	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304784	0.40795	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725	T;T;T;T	0.15017	2.46;2.48;2.48;2.48	4.3	3.12	0.35913	.	0.054132	0.64402	D	0.000001	T	0.12732	0.0309	N	0.24115	0.695	0.37853	D	0.92946	B;B;B;B	0.27068	0.167;0.001;0.0;0.0	B;B;B;B	0.35114	0.196;0.002;0.001;0.001	T	0.17048	-1.0382	10	0.32370	T	0.25	0.0486	8.822	0.35032	0.8094:0.1906:0.0:0.0	.	11;63;11;11	E9PGY0;F5H6Z6;Q99081;Q99081-3	.;.;HTF4_HUMAN;.	L	63;11;11;11;11	ENSP00000267811:I11L;ENSP00000388940:I11L;ENSP00000396881:I11L;ENSP00000331057:I11L	ENSP00000267811:I11L	I	+	1	0	TCF12	54999434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.308000	0.59129	0.641000	0.30601	0.459000	0.35465	ATA		0.547	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		21	56	0	0	0	0.010504	0	21	56				
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site	SNP	G	G	T	rs200160540		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:58465266G>T	ENST00000219919.4	+	3	608		c.e3-1		ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Splice_Site|AQP9_ENST00000536493.1_Splice_Site	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9						amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCCTTGCAGGTGGTCACAT	0.463																																							uc002aez.2		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e3-1		aquaporin 9							184.0	176.0	179.0					15																	58465266		2192	4292	6484	SO:0001630	splice_region_variant	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465266G>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.239-1G>T	15.37:g.58465266G>T						ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Splice_Site_p.G15_splice	p.G80_splice	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	596	+								Q9NP32	Splice_Site	SNP	ENST00000219919.4	37	c.239_splice	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909305	0.33721	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AQP9	56252558	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.349000	0.97066	2.840000	0.97914	0.655000	0.94253	.		0.463	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980	Intron	95	224	1	0	2.01602e-52	0.00361	3.78323e-52	95	224				
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:64067496T>A	ENST00000443617.2	-	2	414	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	109					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V109V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACGCTGGAGTACAAGCAGTC	0.473																																							uc002amp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(325-327)GTA>GTT		hect domain and RCC1-like domain 1							64.0	65.0	64.0					15																	64067496		1960	4153	6113	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067496T>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.327A>T	15.37:g.64067496T>A						HERC1_uc010uil.1_Silent_p.V109V|HERC1_uc010bgt.1_Silent_p.V109V|HERC1_uc002amq.1_Silent_p.V109V	p.V109V	NM_003922	NP_003913	Q15751	HERC1_HUMAN			2	475	-			109					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.327A>T	CCDS45277.1																																																																																				0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		33	75	0	0	0	0.002445	0	33	75				
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:71305143G>C	ENST00000260382.5	+	14	1854	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.V522L|LRRC49_ENST00000560369.1_Splice_Site_p.V537L|LRRC49_ENST00000443425.2_Splice_Site_p.V488L|LRRC49_ENST00000560691.1_Splice_Site_p.V238L|LRRC49_ENST00000560158.2_Splice_Site_p.V220L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V532L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTCTTCAGGTGACACAGAA	0.373																																							uc002asw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1594-1596)GTG>CTG		leucine rich repeat containing 49							141.0	129.0	133.0					15																	71305143		2199	4297	6496	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71305143G>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1594-1G>C	15.37:g.71305143G>C						LRRC49_uc002asu.2_Missense_Mutation_p.V522L|LRRC49_uc002asx.2_Missense_Mutation_p.V488L|LRRC49_uc010ukf.1_Missense_Mutation_p.V537L|LRRC49_uc002asy.2_Missense_Mutation_p.V238L|LRRC49_uc002asz.2_Missense_Mutation_p.V504L	p.V532L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			14	1841	+			532					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1594G>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497220	0.85069	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.49720	0.77;0.78;0.77	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;0.996	P;D;D;D;D	0.87578	0.904;0.998;0.998;0.996;0.99	T	0.67783	-0.5581	9	.	.	.	-15.6619	16.8138	0.85728	0.0:0.0:1.0:0.0	.	537;504;488;532;522	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	L	522;532;488;504	ENSP00000439600:V522L;ENSP00000260382:V532L;ENSP00000414065:V488L	.	V	+	1	0	LRRC49	69092197	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.575000	0.67430	2.558000	0.86282	0.555000	0.69702	GTG		0.373	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Missense_Mutation	10	26	0	0	0	0.008291	0	10	26				
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	C	T	rs147975982		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:74707191C>T	ENST00000261918.4	-	9	1631	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SEMA7A_ENST00000543145.2_Silent_p.P347P|SEMA7A_ENST00000542748.1_Silent_p.P196P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCAGGCCGCGGGTTGGGAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19308	0.0		0.001	False		,,,				2504	0.0						uc002axv.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1081-1083)CCG>CCA		semaphorin 7A isoform 1 preproprotein		C	,,	0,4394		0,0,2197	109.0	95.0	100.0		1041,588,1083	-11.0	0.7	15	dbSNP_134	100	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,,	347/653,196/502,361/667	74707191	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74707191C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1083G>A	15.37:g.74707191C>T						SEMA7A_uc010ulk.1_Silent_p.P196P|SEMA7A_uc010ull.1_Silent_p.P347P	p.P361P	NM_003612	NP_003603	O75326	SEM7A_HUMAN			9	1123	-			361			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1083G>A	CCDS10262.1																																																																																				0.627	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		10	73	0	0	0	0.008291	0	10	73				
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:81436103G>T	ENST00000286732.4	+	5	661	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	193								p.W193L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAACTGCTGGCAGGCTGCC	0.537																																							uc002bgb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(577-579)TGG>TTG		hypothetical protein LOC161502							135.0	133.0	134.0					15																	81436103		2012	4161	6173	SO:0001583	missense	161502							g.chr15:81436103G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.578G>T	15.37:g.81436103G>T	ENSP00000286732:p.Trp193Leu					C15orf26_uc010blp.1_Missense_Mutation_p.W168L	p.W193L	NM_173528	NP_775799	Q6P656	CO026_HUMAN			5	605	+			193					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.578G>T	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020680	0.75275	.	.	ENSG00000156206	ENST00000286732;ENST00000398681	T	0.42900	0.96	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76493	-0.2939	10	0.72032	D	0.01	-16.4335	17.0506	0.86517	0.0:0.0:1.0:0.0	.	193	Q6P656	CO026_HUMAN	L	193;168	ENSP00000286732:W193L	ENSP00000286732:W193L	W	+	2	0	C15orf26	79223158	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.494000	0.73661	2.291000	0.77112	0.655000	0.94253	TGG		0.537	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		82	194	1	0	1.7488e-33	0.00361	3.1236e-33	82	194				
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:88472600C>A	ENST00000360948.2	-	16	2116	c.1955G>T	c.(1954-1956)gGg>gTg	p.G652V	NTRK3_ENST00000357724.2_Missense_Mutation_p.G644V|NTRK3_ENST00000394480.2_Missense_Mutation_p.G652V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G652V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G554V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G652V(4)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAGAGCCCCAGCTCACC	0.612			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	4	Substitution - Missense(4)		lung(4)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1954-1956)GGG>GTG		neurotrophic tyrosine kinase, receptor, type 3							67.0	61.0	63.0					15																	88472600		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472600C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1955G>T	15.37:g.88472600C>A	ENSP00000354207:p.Gly652Val	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.G644V|NTRK3_uc002bmf.1_Missense_Mutation_p.G652V|NTRK3_uc010upl.1_Missense_Mutation_p.G554V|NTRK3_uc010bnh.1_Missense_Mutation_p.G644V	p.G652V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2117	-			652			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1955G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436115	0.83885	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	N	0.13352	0.335	0.80722	D	1	P;D;P;P;P	0.56968	0.899;0.978;0.763;0.927;0.588	P;D;P;P;P	0.64410	0.639;0.925;0.574;0.519;0.472	D	0.85392	0.1126	10	0.15952	T	0.53	.	17.6599	0.88189	0.0:1.0:0.0:0.0	.	554;644;644;652;652	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	V	652;652;644;652;554	ENSP00000377990:G652V;ENSP00000354207:G652V;ENSP00000350356:G644V;ENSP00000347397:G652V;ENSP00000437773:G554V	ENSP00000347397:G652V	G	-	2	0	NTRK3	86273604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.746000	0.62133	2.409000	0.81822	0.655000	0.94253	GGG		0.612	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				15	38	1	0	0.00400662	0.004007	0.00431987	15	38				
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1262039G>T	ENST00000348261.5	+	25	4908	c.4660G>T	c.(4660-4662)Gtg>Ttg	p.V1554L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGTGGGCGTCGTGGTCGAGAA	0.632																																							uc002cks.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)	2						c.(4660-4662)GTG>TTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						199.0	212.0	207.0					16																	1262039		2166	4267	6433	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262039G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4660G>T	16.37:g.1262039G>T	ENSP00000334198:p.Val1554Leu					CACNA1H_uc002ckt.2_Missense_Mutation_p.V1554L|CACNA1H_uc002cku.2_Missense_Mutation_p.V260L|CACNA1H_uc010brj.2_Missense_Mutation_p.V260L|CACNA1H_uc002ckv.2_Missense_Mutation_p.V260L	p.V1554L	NM_021098	NP_066921	O95180	CAC1H_HUMAN			25	4908	+		Hepatocellular(780;0.00369)	1554			Helical; Name=S6 of repeat III; (Potential).|III.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4660G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617073	0.87359	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98747	-5.11;-5.11	4.13	4.13	0.48395	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.45744	1.44	0.53688	D	0.999974	D;P;P;B;P	0.89917	1.0;0.885;0.755;0.064;0.783	D;P;P;B;P	0.87578	0.998;0.678;0.521;0.132;0.708	D	0.99741	1.1015	10	0.87932	D	0	.	15.9029	0.79397	0.0:0.0:1.0:0.0	.	295;295;295;1554;1554	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	L	1554	ENSP00000334198:V1554L;ENSP00000351401:V1554L	ENSP00000334198:V1554L	V	+	1	0	CACNA1H	1202040	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	7.339000	0.79282	2.285000	0.76669	0.467000	0.42956	GTG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		64	205	1	0	2.18329e-32	0.00361	3.84181e-32	64	205				
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1396022G>T	ENST00000324385.5	+	24	2507	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	BAIAP3_ENST00000562208.1_Silent_p.L725L|BAIAP3_ENST00000421665.2_Silent_p.L712L|BAIAP3_ENST00000397489.1_Silent_p.L765L|BAIAP3_ENST00000397488.2_Silent_p.L765L|BAIAP3_ENST00000426824.3_Silent_p.L748L|BAIAP3_ENST00000568887.1_Silent_p.L720L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.L783L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATACGGAGCTGCTTCGGAAGA	0.682																																							uc002clk.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(2347-2349)CTG>CTT		BAI1-associated protein 3							30.0	30.0	30.0					16																	1396022		2196	4300	6496	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396022G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2349G>T	16.37:g.1396022G>T						BAIAP3_uc002clj.2_Silent_p.L765L|BAIAP3_uc010uuz.1_Silent_p.L748L|BAIAP3_uc010uva.1_Silent_p.L720L|BAIAP3_uc010uvc.1_Silent_p.L712L	p.L783L	NM_003933	NP_003924	O94812	BAIP3_HUMAN			24	2349	+		Hepatocellular(780;0.0893)	783			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.2349G>T	CCDS10434.1																																																																																				0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			7	33	1	0	0.000157383	0.00308	0.000176091	7	33				
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2002992G>T	ENST00000268661.7	-	3	342	c.248C>A	c.(247-249)cCc>cAc	p.P83H	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P83H(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCACTAGGGGCGGCGTTTC	0.607																																							uc002cnh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(247-249)CCC>CAC		ribosomal protein L3-like							62.0	57.0	59.0					16																	2002992		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:2002992G>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.248C>A	16.37:g.2002992G>T	ENSP00000268661:p.Pro83His						p.P83H	NM_005061	NP_005052	Q92901	RL3L_HUMAN			3	295	-			83						Missense_Mutation	SNP	ENST00000268661.7	37	c.248C>A	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283109	0.59867	.	.	ENSG00000140986	ENST00000268661	T	0.52057	0.68	5.28	5.28	0.74379	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.056298	0.64402	D	0.000001	T	0.81744	0.4887	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.89573	0.3815	10	0.87932	D	0	-27.4507	17.8999	0.88900	0.0:0.0:1.0:0.0	.	83	Q92901	RL3L_HUMAN	H	83	ENSP00000268661:P83H	ENSP00000268661:P83H	P	-	2	0	RPL3L	1942993	1.000000	0.71417	0.145000	0.22337	0.004000	0.04260	9.395000	0.97266	2.479000	0.83701	0.609000	0.83330	CCC		0.607	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		18	71	1	0	0.00047179	0.00333	0.000523916	18	71				
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2818263G>T	ENST00000301740.8	+	11	8282		c.e11+1		AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_Splice_Site	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2						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.?(2)		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						CACTGAAGAGGTGAGGGAGCT	0.557																																							uc002crk.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.e11+1		splicing coactivator subunit SRm300							45.0	44.0	44.0					16																	2818263		2198	4300	6498	SO:0001630	splice_region_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818263G>T	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.7733+1G>T	16.37:g.2818263G>T							p.R2578_splice	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	8282	+								A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Splice_Site	SNP	ENST00000301740.8	37	c.7733_splice	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507858	0.27036	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8054	0.78501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRRM2	2758264	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.004000	0.63966	2.808000	0.96608	0.655000	0.94253	.		0.557	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		Intron	31	59	1	0	6.00712e-18	0.002445	9.57587e-18	31	59				
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	A	rs200926687		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:12758931C>A	ENST00000381774.4	-	4	997	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G111W	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582																																							uc002dca.3		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(757-759)GGG>TGG		calcineurin-like phosphoesterase domain																																				SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758931C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.757G>T	16.37:g.12758931C>A	ENSP00000371193:p.Gly253Trp					CPPED1_uc002dcb.3_Missense_Mutation_p.G111W|CPPED1_uc002dbz.3_RNA	p.G253W	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	868	-			253					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.757G>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884501	0.91814	.	.	ENSG00000103381	ENST00000381774;ENST00000433677	T;D	0.94184	-0.39;-3.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.95691	0.8740	10	0.41790	T	0.15	-27.6989	18.0718	0.89410	0.0:1.0:0.0:0.0	.	111;253	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	W	253;111	ENSP00000371193:G253W;ENSP00000411127:G111W	ENSP00000371193:G253W	G	-	1	0	CPPED1	12666432	1.000000	0.71417	0.950000	0.38849	0.968000	0.65278	5.723000	0.68492	2.941000	0.99782	0.655000	0.94253	GGG		0.582	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		40	38	1	0	6.2361e-21	0.007835	1.01594e-20	40	38				
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:20748250T>A	ENST00000381337.2	-	4	1358	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	THUMPD1_ENST00000396083.2_Silent_p.A338A|THUMPD1_ENST00000431224.2_Silent_p.A424A	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338							poly(A) RNA binding (GO:0044822)	p.A338A(2)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGGCTTGACTTGCAAGTTCAG	0.478																																							uc002dho.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1012-1014)GCA>GCT		THUMP domain containing 1							110.0	109.0	110.0					16																	20748250		2201	4300	6501	SO:0001819	synonymous_variant	55623							g.chr16:20748250T>A	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.1014A>T	16.37:g.20748250T>A						THUMPD1_uc010vaz.1_Silent_p.A191A|THUMPD1_uc002dhp.2_Silent_p.A338A	p.A338A	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN			4	1152	-			338					Q9BWC3	Silent	SNP	ENST00000381337.2	37	c.1014A>T	CCDS10588.1																																																																																				0.478	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		24	57	0	0	0	0.007291	0	24	57				
NPIPB4	440345	broad.mit.edu	37	16	21854852	21854852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:21854852C>T	ENST00000415645.2	-	4	439	c.400G>A	c.(400-402)Gga>Aga	p.G134R	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.G134R			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	134						integral component of membrane (GO:0016021)		p.G1454R(2)									ATTTTATTTCCTCGAAAGGAA	0.423																																							uc002djr.3		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(400-402)GGA>AGA		nuclear pore complex interacting protein-like 3																																				SO:0001583	missense	0							g.chr16:21854852C>T			16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.400G>A	16.37:g.21854852C>T	ENSP00000404439:p.Gly134Arg					uc002djs.3_RNA|uc002djq.3_Missense_Mutation_p.G115R|uc010vbn.1_Missense_Mutation_p.G134R	p.G134R	NM_130464	NP_569731					6	582	-									Missense_Mutation	SNP	ENST00000415645.2	37	c.400G>A		.	.	.	.	.	.	.	.	.	.	.	11.21	1.571063	0.28003	.	.	ENSG00000185864	ENST00000415645;ENST00000357370;ENST00000341400;ENST00000518761	T;T;T;T	0.32753	1.44;1.54;1.44;1.6	0.589	0.589	0.17452	.	.	.	.	.	T	0.51210	0.1661	.	.	.	.	.	.	D;D	0.76494	0.999;0.994	D;D	0.87578	0.998;0.984	T	0.63690	-0.6580	6	0.66056	D	0.02	.	.	.	.	.	134;134	C9JG80;Q92617	.;NPPL3_HUMAN	R	134	ENSP00000404439:G134R;ENSP00000349936:G134R;ENSP00000339196:G134R;ENSP00000429543:G134R	ENSP00000339196:G134R	G	-	1	0	RP11-645C24.1	21762353	0.005000	0.15991	0.004000	0.12327	0.023000	0.10783	0.979000	0.29500	0.604000	0.29930	0.175000	0.17021	GGA		0.423	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				42	566	0	0	0	0.002852	0	42	566				
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:22268069G>T	ENST00000263026.5	+	7	1093	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	207	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.V207L(4)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATCCCACCAGGTGGACATCAT	0.617																																					NSCLC(195;1411 2157 20319 27471 51856)	NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(1)	1						c.(619-621)GTG>TTG		elongation factor-2 kinase							75.0	58.0	63.0					16																	22268069		2197	4300	6497	SO:0001630	splice_region_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268069G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.619-1G>T	16.37:g.22268069G>T						EEF2K_uc002dkh.2_RNA	p.V207L	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	7	1104	+			207			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.619G>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212893	0.95069	.	.	ENSG00000103319	ENST00000263026	T	0.12039	2.72	5.72	5.72	0.89469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.60012	1.86	0.80722	D	1	D	0.62365	0.991	D	0.67382	0.951	T	0.00446	-1.1734	9	.	.	.	-18.3382	19.8929	0.96937	0.0:0.0:1.0:0.0	.	207	O00418	EF2K_HUMAN	L	207	ENSP00000263026:V207L	.	V	+	1	0	EEF2K	22175570	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.119000	0.94362	2.702000	0.92279	0.462000	0.41574	GTG		0.617	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	Missense_Mutation	9	47	1	0	3.86212e-05	0.008291	4.4043e-05	9	47				
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:23093759C>A	ENST00000219689.7	-	12	1949	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	304	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.Q650H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATTTCCATACCTGCCGAAATC	0.468																																							uc002dll.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1948-1950)CAG>CAT		ubiquitin specific peptidase 31							84.0	79.0	81.0					16																	23093759		2197	4300	6497	SO:0001630	splice_region_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23093759C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1950+1G>T	16.37:g.23093759C>A						USP31_uc010bxm.2_Translation_Start_Site	p.Q650H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	12	1950	-			650					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1950G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941057	0.73557	.	.	ENSG00000103404	ENST00000219689	T	0.02787	4.16	4.75	3.76	0.43208	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.07007	0.0178	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.51012	-0.8759	9	.	.	.	-12.2733	13.4148	0.60961	0.1582:0.8418:0.0:0.0	.	650	Q70CQ4	UBP31_HUMAN	H	650	ENSP00000219689:Q650H	.	Q	-	3	2	USP31	23001260	1.000000	0.71417	0.992000	0.48379	0.827000	0.46813	7.299000	0.78831	1.068000	0.40764	0.650000	0.86243	CAG		0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	Missense_Mutation	24	111	1	0	4.59853e-10	0.005443	6.12793e-10	24	111				
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:27374034A>T	ENST00000395762.2	+	11	1620	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	IL4R_ENST00000170630.2_Missense_Mutation_p.K454M|IL4R_ENST00000543915.2_Missense_Mutation_p.K454M|IL4R_ENST00000380922.3_Missense_Mutation_p.K439M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	454	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.K454M(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGGGCCCAAGGAGGCACCT	0.617																																							uc002don.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1360-1362)AAG>ATG		interleukin 4 receptor alpha chain isoform a							58.0	58.0	58.0					16																	27374034		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374034A>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1361A>T	16.37:g.27374034A>T	ENSP00000379111:p.Lys454Met					IL4R_uc002dop.3_Missense_Mutation_p.K439M|IL4R_uc010bxy.2_Missense_Mutation_p.K454M|IL4R_uc002doo.2_Missense_Mutation_p.K294M	p.K454M	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1603	+			454			Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1361A>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177664	0.38413	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.22	-6.53	0.01866	.	24.876900	0.00166	N	0.000000	T	0.06325	0.0163	N	0.22421	0.69	0.09310	N	1	P;P;P	0.41265	0.744;0.744;0.744	B;B;B	0.39027	0.288;0.288;0.288	T	0.23154	-1.0196	10	0.54805	T	0.06	-3.8883	1.1447	0.01772	0.2577:0.3595:0.149:0.2338	.	439;454;454	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	M	454;454;439;454	ENSP00000379111:K454M;ENSP00000441667:K454M;ENSP00000370309:K439M;ENSP00000170630:K454M	ENSP00000170630:K454M	K	+	2	0	IL4R	27281535	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.671000	0.05250	-1.127000	0.02925	-1.219000	0.01604	AAG		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			50	92	0	0	0	0.00361	0	50	92				
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:48303941A>T	ENST00000285737.4	+	7	1090	c.997A>T	c.(997-999)Agg>Tgg	p.R333W	LONP2_ENST00000535754.1_Missense_Mutation_p.R289W	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.R333W(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGACATTAGGGCAGCCCG	0.383																																							uc002efi.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(997-999)AGG>TGG		peroxisomal LON protease-like							59.0	59.0	59.0					16																	48303941		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48303941A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.997A>T	16.37:g.48303941A>T	ENSP00000285737:p.Arg333Trp					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R289W	p.R333W	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			7	1086	+			333						Missense_Mutation	SNP	ENST00000285737.4	37	c.997A>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.646048	0.29246	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.42131	0.98;0.98;0.98	5.64	3.64	0.41730	.	0.169239	0.52532	D	0.000064	T	0.47948	0.1473	M	0.72353	2.195	0.42236	D	0.991915	D;D	0.61080	0.985;0.989	B;P	0.45681	0.408;0.49	T	0.56872	-0.7907	10	0.72032	D	0.01	-18.7093	14.6342	0.68678	0.2759:0.7241:0.0:0.0	.	289;333	B7ZKL7;Q86WA8	.;LONP2_HUMAN	W	333;62;289;289	ENSP00000285737:R333W;ENSP00000445426:R289W;ENSP00000415983:R289W	ENSP00000285737:R333W	R	+	1	2	LONP2	46861442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.617000	0.46385	0.685000	0.31468	-0.213000	0.12676	AGG		0.383	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		22	97	0	0	0	0.004656	0	22	97				
CHD9	80205	broad.mit.edu	37	16	53358160	53358160	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:53358160C>G	ENST00000398510.3	+	38	8134	c.8047C>G	c.(8047-8049)Cag>Gag	p.Q2683E	CHD9_ENST00000564845.1_Missense_Mutation_p.Q2667E|CHD9_ENST00000566029.1_Missense_Mutation_p.Q2667E|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2668E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2683					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2684E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAAAACTTGCAGTCACTGCA	0.488																																							uc002ehb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8047-8049)CAG>GAG		chromodomain helicase DNA binding protein 9							82.0	81.0	81.0					16																	53358160		1895	4124	6019	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358160C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8047C>G	16.37:g.53358160C>G	ENSP00000381522:p.Gln2683Glu					CHD9_uc002egy.2_Missense_Mutation_p.Q2667E|CHD9_uc002ehc.2_Missense_Mutation_p.Q2668E|CHD9_uc002ehf.2_Missense_Mutation_p.Q1781E|CHD9_uc010cbw.2_Missense_Mutation_p.Q749E	p.Q2683E	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8211	+		all_cancers(37;0.0212)	2683					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8047C>G		.	.	.	.	.	.	.	.	.	.	C	15.13	2.742480	0.49151	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.87809	-2.3	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000068	D	0.92130	0.7505	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.58268	0.969;0.979;0.969;0.982	D;P;D;D	0.70227	0.93;0.73;0.93;0.968	D	0.90218	0.4269	10	0.34782	T	0.22	-7.2905	19.6972	0.96030	0.0:1.0:0.0:0.0	.	749;2668;2683;2667	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	E	2668;2667;749	ENSP00000396345:Q2668E	ENSP00000381522:Q2667E	Q	+	1	0	CHD9	51915661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	2.729000	0.93468	0.655000	0.94253	CAG		0.488	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	72	0	0	0	0.004672	0	3	72				
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:68265245G>A	ENST00000565858.1	-	12	1663	c.1577C>T	c.(1576-1578)aCa>aTa	p.T526I	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.T516I	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	526	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T516I(4)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CTCTGCTGATGTCATCTGAAT	0.562																																							uc010cfa.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1576-1578)ACA>ATA		RNA binding motif protein 35B							79.0	61.0	67.0					16																	68265245		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265245G>A	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1577C>T	16.37:g.68265245G>A	ENSP00000454554:p.Thr526Ile					ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.T516I	p.T526I	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			12	1765	-			526			RRM 3.		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1577C>T		.	.	.	.	.	.	.	.	.	.	G	10.91	1.483817	0.26598	.	.	ENSG00000103067	ENST00000473183	T	0.08008	3.14	5.79	0.428	0.16499	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.144576	0.64402	N	0.000007	T	0.04679	0.0127	N	0.20574	0.59	0.27328	N	0.956859	B;B	0.15473	0.013;0.003	B;B	0.19666	0.026;0.009	T	0.31833	-0.9929	10	0.38643	T	0.18	-3.6252	5.0907	0.14706	0.2155:0.0:0.2923:0.4922	.	526;516	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	I	516	ENSP00000418748:T516I	ENSP00000418748:T516I	T	-	2	0	ESRP2	66822746	1.000000	0.71417	0.342000	0.25602	0.991000	0.79684	2.160000	0.42348	0.176000	0.19873	0.563000	0.77884	ACA		0.562	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		33	37	0	0	0	0.002096	0	33	37				
CMTR2	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71318653C>A	ENST00000338099.5	-	3	1507	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	CMTR2_ENST00000434935.2_Nonsense_Mutation_p.E391*			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	391					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.E391*(2)									TTCAGCTTTTCTTGTTCCGCC	0.313																																							uc010cga.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1171-1173)GAA>TAA		FtsJ methyltransferase domain containing 1							31.0	32.0	32.0					16																	71318653		2196	4295	6491	SO:0001587	stop_gained	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318653C>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1171G>T	16.37:g.71318653C>A	ENSP00000337512:p.Glu391*					FTSJD1_uc002ezy.3_Nonsense_Mutation_p.E391*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.E391*	p.E391*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1577	-			391					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Nonsense_Mutation	SNP	ENST00000338099.5	37	c.1171G>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321842	0.95682	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	.	.	.	5.95	0.545	0.17190	.	0.807088	0.11459	N	0.561933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-16.3211	9.8237	0.40899	0.0:0.4585:0.0:0.5415	.	.	.	.	X	391	.	ENSP00000337512:E391X	E	-	1	0	FTSJD1	69876154	0.001000	0.12720	0.382000	0.26119	0.491000	0.33493	-0.106000	0.10890	0.109000	0.17891	-0.339000	0.08088	GAA		0.313	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		5	13	1	0	0.000602214	0.000602	0.000662548	5	13				
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71482343C>A	ENST00000393539.2	-	6	2398	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.E471*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E529*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.E471*|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E529*	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	529					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.E529*(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAAGGTTTCTCCCCAGTATGT	0.418																																							uc002faf.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1585-1587)GAG>TAG		zinc finger protein 23							127.0	118.0	121.0					16																	71482343		2198	4300	6498	SO:0001587	stop_gained	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482343C>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1585G>T	16.37:g.71482343C>A	ENSP00000377171:p.Glu529*					ZNF23_uc002fad.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fae.2_Nonsense_Mutation_p.E471*|ZNF23_uc010vmf.1_Nonsense_Mutation_p.E471*|ZNF23_uc002fag.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fah.2_Nonsense_Mutation_p.E529*|ZNF23_uc002fai.2_Nonsense_Mutation_p.E568*	p.E529*	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2399	-		Ovarian(137;0.00768)	529					Q8NDP5|Q96IT3|Q9UG42	Nonsense_Mutation	SNP	ENST00000393539.2	37	c.1585G>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196627	0.98701	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	.	.	.	4.27	2.33	0.28932	.	0.653258	0.13487	N	0.384251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.4293	8.505	0.33181	0.0:0.8071:0.0:0.1929	.	.	.	.	X	529;529;529;471;471;301	.	ENSP00000349796:E529X	E	-	1	0	ZNF23	70039844	0.998000	0.40836	0.979000	0.43373	0.996000	0.88848	3.829000	0.55760	0.747000	0.32809	0.561000	0.74099	GAG		0.418	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		31	56	1	0	1.13719e-10	0.008361	1.54668e-10	31	56				
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71571552C>A	ENST00000338482.5	+	3	1315	c.972C>A	c.(970-972)gcC>gcA	p.A324A	RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.A324A|CHST4_ENST00000539698.3_Silent_p.A324A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	324					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.A324A(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACACAAATGCCAGGGATGCCC	0.522											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002fan.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(970-972)GCC>GCA		carbohydrate (N-acetylglucosamine 6-O)							86.0	68.0	74.0					16																	71571552		2198	4300	6498	SO:0001819	synonymous_variant	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571552C>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.972C>A	16.37:g.71571552C>A			OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Silent_p.A324A	p.A324A	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1153	+			324			Lumenal (Potential).		Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.972C>A	CCDS10902.1																																																																																				0.522	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		16	29	1	0	1.3612e-06	0.003163	1.66776e-06	16	29				
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:84103628C>G	ENST00000343411.3	-	14	2293	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	600					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.E600Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAGTCTGTTCTGCACCATTT	0.393																																							uc002fhi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1798-1800)GAA>CAA		membrane-bound transcription factor site-1							103.0	110.0	108.0					16																	84103628		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84103628C>G	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1798G>C	16.37:g.84103628C>G	ENSP00000344223:p.Glu600Gln					MBTPS1_uc002fhh.2_Missense_Mutation_p.E104Q	p.E600Q	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			14	2300	-			600			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1798G>C	CCDS10941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.555416|3.555416	0.65425|0.65425	.|.	.|.	ENSG00000140943|ENSG00000140943	ENST00000343411|ENST00000347334	T|.	0.31769|.	1.48|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70815|0.70815	0.3267|0.3267	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P|.	0.44006|.	0.824|.	B|.	0.37888|.	0.26|.	T|T	0.71217|0.71217	-0.4658|-0.4658	10|6	0.21014|0.62326	T|D	0.42|0.03	-29.2896|-29.2896	19.8383|19.8383	0.96670|0.96670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600|.	Q14703|.	MBTP1_HUMAN|.	Q|T	600|45	ENSP00000344223:E600Q|.	ENSP00000344223:E600Q|ENSP00000342515:R45T	E|R	-|-	1|2	0|0	MBTPS1|MBTPS1	82661129|82661129	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	7.666000|7.666000	0.83877|0.83877	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.393	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		55	114	0	0	0	0.00361	0	55	114				
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:1640949A>T	ENST00000409644.1	+	10	5796	c.5796A>T	c.(5794-5796)tcA>tcT	p.S1932S	WDR81_ENST00000437219.2_Silent_p.S729S|WDR81_ENST00000419248.1_Silent_p.S705S|WDR81_ENST00000446363.1_Silent_p.S571S|WDR81_ENST00000309182.5_Silent_p.S881S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.S563S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1932					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTGGGCTCAGACAACGGGG	0.652																																							uc002fti.2		NA																	6	Substitution - coding silent(6)		lung(6)	skin(1)	1						c.(2113-2115)TCA>TCT		WD repeat domain 81 isoform 4							61.0	49.0	53.0					17																	1640949		2201	4295	6496	SO:0001819	synonymous_variant	124997							g.chr17:1640949A>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5796A>T	17.37:g.1640949A>T						WDR81_uc002fth.2_Silent_p.S881S|WDR81_uc010vqp.1_Silent_p.S729S|WDR81_uc002ftj.2_Silent_p.S1932S|WDR81_uc010vqq.1_Silent_p.S563S	p.S705S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	2376	+			705					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.2115A>T	CCDS54062.1																																																																																				0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		22	35	0	0	0	0.005443	0	22	35				
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10397739T>A	ENST00000226207.5	-	39	5693	c.5599A>T	c.(5599-5601)Agg>Tgg	p.R1867W	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1867W(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGGAGCCTGAGAATATTC	0.393																																							uc002gmo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5599-5601)AGG>TGG		myosin, heavy chain 1, skeletal muscle, adult							138.0	142.0	141.0					17																	10397739		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397739T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5599A>T	17.37:g.10397739T>A	ENSP00000226207:p.Arg1867Trp					uc002gml.1_Intron	p.R1867W	NM_005963	NP_005954	P12882	MYH1_HUMAN			39	5693	-			1867			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5599A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810151	0.70797	.	.	ENSG00000109061	ENST00000226207	T	0.78595	-1.19	5.05	3.94	0.45596	Myosin tail (1);	0.000000	0.45867	U	0.000337	D	0.91845	0.7419	H	0.97829	4.085	0.47341	D	0.999395	D	0.89917	1.0	D	0.91635	0.999	D	0.93115	0.6520	10	0.87932	D	0	.	12.0258	0.53368	0.0:0.0:0.1449:0.8551	.	1867	P12882	MYH1_HUMAN	W	1867	ENSP00000226207:R1867W	ENSP00000226207:R1867W	R	-	1	2	MYH1	10338464	0.284000	0.24287	1.000000	0.80357	0.996000	0.88848	0.611000	0.24268	0.826000	0.34661	0.533000	0.62120	AGG		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		50	158	0	0	0	0.00361	0	50	158				
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:18023924G>A	ENST00000205890.5	+	2	2148	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	604					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E604K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGTCAGGGAGGCGGCCTA	0.697																																							uc010vxh.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(1810-1812)GAG>AAG		myosin XV							5.0	6.0	6.0					17																	18023924		1690	3663	5353	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023924G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1810G>A	17.37:g.18023924G>A	ENSP00000205890:p.Glu604Lys						p.E604K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	2148	+	all_neural(463;0.228)		604			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1810G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191658	0.38707	.	.	ENSG00000091536	ENST00000205890	D	0.90069	-2.61	4.49	4.49	0.54785	.	.	.	.	.	D	0.82806	0.5117	L	0.29908	0.895	0.80722	D	1	P	0.51057	0.941	B	0.43728	0.429	T	0.82196	-0.0577	9	0.39692	T	0.17	.	10.6951	0.45894	0.0:0.1947:0.8053:0.0	.	604	Q9UKN7	MYO15_HUMAN	K	604	ENSP00000205890:E604K	ENSP00000205890:E604K	E	+	1	0	MYO15A	17964649	0.987000	0.35691	0.988000	0.46212	0.411000	0.31082	2.472000	0.45136	2.032000	0.59987	0.448000	0.29417	GAG		0.697	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	4	0	0	0	0.001168	0	4	4				
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:27910597C>A	ENST00000225394.3	-	2	338	c.90G>T	c.(88-90)gtG>gtT	p.V30V	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.V30V|GIT1_ENST00000581348.1_Silent_p.V30V|GIT1_ENST00000579937.1_Silent_p.V30V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	30	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V30V(4)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTCGTCACACACCAGCACAC	0.657																																					Colon(81;41 1719 20078 35068)	Colon(81;41 1719 20078 35068)	uc002hef.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(88-90)GTG>GTT		G protein-coupled receptor kinase interactor 1							70.0	51.0	57.0					17																	27910597		2202	4299	6501	SO:0001819	synonymous_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27910597C>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.90G>T	17.37:g.27910597C>A						GIT1_uc002heg.2_Silent_p.V30V|GIT1_uc010wbg.1_Silent_p.V30V|GIT1_uc010csb.1_Silent_p.V30V	p.V30V	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	2	304	-			30			Arf-GAP.|C4-type.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.90G>T	CCDS11250.1																																																																																				0.657	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	17	1	0	8.12818e-05	0.001984	9.16352e-05	7	17				
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y|CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343																																							uc002hig.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1102-1104)AAC>TAC		chaperonin containing TCP1, subunit 6B							181.0	155.0	164.0					17																	33266313		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33266313T>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1102A>T	17.37:g.33266313T>A	ENSP00000327191:p.Asn368Tyr					CCT6B_uc010ctg.2_Missense_Mutation_p.N331Y|CCT6B_uc010wcc.1_Missense_Mutation_p.N323Y	p.N368Y	NM_006584	NP_006575	Q92526	TCPW_HUMAN			10	1196	-		Ovarian(249;0.17)	368					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.1102A>T	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137193	0.37728	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.79454	-1.27;-1.27;-1.27	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86585	0.5968	M	0.93678	3.445	0.80722	D	1	P;P;P	0.41710	0.607;0.76;0.61	P;P;B	0.48770	0.481;0.589;0.395	D	0.89521	0.3778	10	0.87932	D	0	-13.5379	11.9827	0.53129	0.0:0.0:0.0:1.0	.	323;331;368	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	Y	331;368;323	ENSP00000398044:N331Y;ENSP00000327191:N368Y;ENSP00000400917:N323Y	ENSP00000327191:N368Y	N	-	1	0	CCT6B	30290426	1.000000	0.71417	0.997000	0.53966	0.095000	0.18619	7.022000	0.76431	1.999000	0.58509	0.455000	0.32223	AAC		0.343	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		35	99	0	0	0	0.003755	0	35	99				
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33687261C>A	ENST00000394566.1	-	5	1471		c.e5+1		SLFN11_ENST00000308377.4_Splice_Site	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11						defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.?(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATAATTACCTGAAAATAA	0.393																																							uc010ctp.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.e5+1		schlafen family member 11							89.0	97.0	94.0					17																	33687261		2203	4300	6503	SO:0001630	splice_region_variant	91607					nucleus	ATP binding	g.chr17:33687261C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1198+1G>T	17.37:g.33687261C>A						SLFN11_uc010ctq.2_Splice_Site_p.V400_splice|SLFN11_uc002hjh.3_Splice_Site_p.V400_splice|SLFN11_uc002hjg.3_Splice_Site_p.V400_splice|SLFN11_uc010ctr.2_Splice_Site_p.V400_splice	p.V400_splice	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1640	-		Ovarian(249;0.17)						E1P643|Q8N3S8|Q8N762|Q8TEE0	Splice_Site	SNP	ENST00000394566.1	37	c.1198_splice	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849117	0.32699	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2049	0.48762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLFN11	30711374	1.000000	0.71417	0.979000	0.43373	0.050000	0.14768	3.844000	0.55873	1.986000	0.57962	0.563000	0.77884	.		0.393	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	Intron	10	52	1	0	4.68919e-08	0.008291	5.97998e-08	10	52				
LYZL6	57151	broad.mit.edu	37	17	34264778	34264778	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:34264778G>A	ENST00000585556.1	-	3	616	c.282C>T	c.(280-282)tgC>tgT	p.C94C	LYZL6_ENST00000293274.4_Silent_p.C94C|LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.C94C			O75951	LYZL6_HUMAN	lysozyme-like 6	94					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.C94C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCTACGTGGCAAAGGTTTT	0.512																																							uc002hkj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)TGC>TGT		lysozyme-like 6 precursor							107.0	98.0	101.0					17																	34264778		2203	4300	6503	SO:0001819	synonymous_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264778G>A	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.282C>T	17.37:g.34264778G>A						LYZL6_uc002hkk.1_Silent_p.C94C	p.C94C	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	432	-			94					Q6UW30	Silent	SNP	ENST00000585556.1	37	c.282C>T	CCDS11302.1																																																																																				0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		4	109	0	0	0	0.009096	0	4	109				
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:42168703T>A	ENST00000393622.2	-	11	1653	c.1322A>T	c.(1321-1323)cAt>cTt	p.H441L	HDAC5_ENST00000225983.6_Missense_Mutation_p.H442L|HDAC5_ENST00000336057.5_Missense_Mutation_p.H441L|HDAC5_ENST00000586802.1_Missense_Mutation_p.H441L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	441					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.H441L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAGGGAGGCATGCCCGTGGGG	0.662																																							uc002ifd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1321-1323)CAT>CTT		histone deacetylase 5 isoform 1							26.0	26.0	26.0					17																	42168703		2201	4298	6499	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42168703T>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1322A>T	17.37:g.42168703T>A	ENSP00000377244:p.His441Leu					HDAC5_uc002ife.1_Missense_Mutation_p.H441L|HDAC5_uc002iff.1_Missense_Mutation_p.H442L|HDAC5_uc010czp.1_Missense_Mutation_p.H441L|HDAC5_uc002ifh.2_Missense_Mutation_p.H441L	p.H441L	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1533	-		Breast(137;0.00637)|Prostate(33;0.0313)	441					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.1322A>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955960	0.53293	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.50277	0.83;0.83;0.75	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.62454	0.2429	L	0.56199	1.76	0.58432	D	0.999998	D;D;D;D	0.69078	0.997;0.995;0.997;0.995	D;D;D;D	0.75484	0.986;0.979;0.986;0.969	T	0.60850	-0.7181	10	0.36615	T	0.2	-12.4064	14.005	0.64459	0.0:0.0:0.0:1.0	.	441;441;442;441	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	442;441;441	ENSP00000225983:H442L;ENSP00000377244:H441L;ENSP00000337290:H441L	ENSP00000225983:H442L	H	-	2	0	HDAC5	39524229	0.994000	0.37717	0.973000	0.42090	0.719000	0.41307	2.349000	0.44054	1.958000	0.56883	0.454000	0.30748	CAT		0.662	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		6	23	0	0	0	0.00308	0	6	23				
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:43320574C>A	ENST00000331495.3	+	17	2436	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Silent_p.A700A|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Silent_p.A278A	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	700	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.A700A(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTAAGGCAGCCCAGAAGGCCC	0.597																																					GBM(164;1247 1997 8702 11086 51972)	GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(2098-2100)GCC>GCA		formin-like 1							80.0	84.0	83.0					17																	43320574		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320574C>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2100C>A	17.37:g.43320574C>A						FMNL1_uc002iiq.2_Silent_p.A278A|FMNL1_uc010dag.2_RNA	p.A700A	NM_005892	NP_005883	O95466	FMNL_HUMAN			17	2300	+			700			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.2100C>A	CCDS11497.1																																																																																				0.597	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		57	149	1	0	6.09941e-20	0.00361	9.90944e-20	57	149				
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	G	A	rs142272724		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:46247980G>A	ENST00000336915.6	-	10	937	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.R290*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	290	Interaction with FYB.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R290*(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CCTCCTTTTCGTCGAGTGCCA	0.413																																							uc002ini.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(868-870)CGA>TGA		src kinase associated phosphoprotein 1 isoform		G	stop/ARG,stop/ARG	0,4406		0,0,2203	281.0	231.0	248.0		868,868	3.9	0.0	17	dbSNP_134	248	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	SKAP1	NM_001075099.1,NM_003726.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	290/359,290/360	46247980	1,13005	2203	4300	6503	SO:0001587	stop_gained	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46247980G>A	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.868C>T	17.37:g.46247980G>A	ENSP00000338171:p.Arg290*					SKAP1_uc002inj.1_Nonsense_Mutation_p.R290*|SKAP1_uc010dbd.1_Nonsense_Mutation_p.R196*|SKAP1_uc010dbe.1_Nonsense_Mutation_p.R290*	p.R290*	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			10	980	-			290			Interaction with FYB.		D3DTV1|O15268	Nonsense_Mutation	SNP	ENST00000336915.6	37	c.868C>T	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615400	0.87359	0.0	1.16E-4	ENSG00000141293	ENST00000336915	.	.	.	5.93	3.89	0.44902	.	1.975130	0.02132	N	0.056424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-35.8445	9.708	0.40227	0.0:0.1533:0.6873:0.1594	.	.	.	.	X	290	.	ENSP00000338171:R290X	R	-	1	2	SKAP1	43602979	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.941000	0.29005	0.811000	0.34303	-0.188000	0.12872	CGA		0.413	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		53	198	0	0	0	0.00361	0	53	198				
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49710885G>T	ENST00000285273.4	-	9	2027	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	CA10_ENST00000442502.2_Missense_Mutation_p.Q306K|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000340813.6_Missense_Mutation_p.Q312K|CA10_ENST00000451037.2_Missense_Mutation_p.Q306K|CA10_ENST00000570565.1_Missense_Mutation_p.Q231K	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development (GO:0007420)			p.Q306K(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TCCTTCCCCTGTAAACTGAAG	0.512																																							uc002itw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(916-918)CAG>AAG		carbonic anhydrase X							142.0	125.0	131.0					17																	49710885		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710885G>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.916C>A	17.37:g.49710885G>T	ENSP00000285273:p.Gln306Lys					CA10_uc002itu.3_Missense_Mutation_p.Q235K|CA10_uc002itv.3_Missense_Mutation_p.Q312K|CA10_uc002itx.3_Missense_Mutation_p.Q306K|CA10_uc002ity.3_Missense_Mutation_p.Q306K|CA10_uc002itz.2_Missense_Mutation_p.Q306K	p.Q306K	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1902	-			306					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.916C>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430989	0.25726	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.68331	-0.31;-0.31;-0.31;-0.32	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.03983	-0.305	0.51012	D	0.999903	P;P;B	0.39665	0.682;0.682;0.004	B;B;B	0.35312	0.2;0.2;0.004	T	0.49532	-0.8930	10	0.07644	T	0.81	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	306;312;231	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	K	306;306;306;312	ENSP00000390666:Q306K;ENSP00000285273:Q306K;ENSP00000405388:Q306K;ENSP00000340363:Q312K	ENSP00000285273:Q306K	Q	-	1	0	CA10	47065884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.558000	0.86282	0.655000	0.94253	CAG		0.512	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		28	76	1	0	1.08312e-15	0.009535	1.65966e-15	28	76				
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49731069A>T	ENST00000285273.4	-	6	1605	c.494T>A	c.(493-495)cTa>cAa	p.L165Q	CA10_ENST00000442502.2_Missense_Mutation_p.L165Q|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.L171Q|CA10_ENST00000451037.2_Missense_Mutation_p.L165Q|CA10_ENST00000570565.1_Missense_Mutation_p.L90Q	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development (GO:0007420)			p.L165Q(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	ATTCGTATATAGCTCATGGTT	0.408																																							uc002itw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(493-495)CTA>CAA		carbonic anhydrase X							99.0	93.0	95.0					17																	49731069		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49731069A>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.494T>A	17.37:g.49731069A>T	ENSP00000285273:p.Leu165Gln					CA10_uc002itu.3_Missense_Mutation_p.L94Q|CA10_uc002itv.3_Missense_Mutation_p.L171Q|CA10_uc002itx.3_Missense_Mutation_p.L165Q|CA10_uc002ity.3_Missense_Mutation_p.L165Q|CA10_uc002itz.2_Missense_Mutation_p.L165Q	p.L165Q	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		5	1480	-			165					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.494T>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546338	0.86022	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.55	5.55	0.83447	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.82701	0.5094	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.997;0.999	D	0.84506	0.0619	9	.	.	.	.	15.1722	0.72884	1.0:0.0:0.0:0.0	.	165;171;90	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	Q	165;165;165;171	ENSP00000390666:L165Q;ENSP00000285273:L165Q;ENSP00000405388:L165Q;ENSP00000340363:L171Q	.	L	-	2	0	CA10	47086068	1.000000	0.71417	0.947000	0.38551	0.976000	0.68499	8.798000	0.91888	2.222000	0.72286	0.533000	0.62120	CTA		0.408	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		29	80	0	0	0	0.008361	0	29	80				
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:55193622G>C	ENST00000337714.3	+	7	2665	c.2432G>C	c.(2431-2433)aGg>aCg	p.R811T	AKAP1_ENST00000572557.1_Splice_Site_p.R811T|AKAP1_ENST00000571629.1_Splice_Site_p.R811T|AKAP1_ENST00000539273.1_Splice_Site_p.R811T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	811	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R811T(2)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGGCAAATCAGGTGAGCGGAG	0.572																																							uc002iux.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2431-2433)AGG>ACG		A-kinase anchor protein 1 precursor							111.0	93.0	99.0					17																	55193622		2203	4300	6503	SO:0001630	splice_region_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55193622G>C	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2432+1G>C	17.37:g.55193622G>C						AKAP1_uc010wnl.1_Missense_Mutation_p.R811T|AKAP1_uc010dcm.2_Missense_Mutation_p.R811T	p.R811T	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			7	2663	+	Breast(9;5.46e-08)		811			Tudor.		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2432G>C	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988899	0.74589	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.09723	2.95;2.95	4.98	4.98	0.66077	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.046995	0.85682	D	0.000000	T	0.40886	0.1135	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48139	-0.9061	10	0.62326	D	0.03	-25.2628	17.6084	0.88045	0.0:0.0:1.0:0.0	.	811	Q92667	AKAP1_HUMAN	T	811;853;811	ENSP00000337736:R811T;ENSP00000443139:R811T	ENSP00000337736:R811T	R	+	2	0	AKAP1	52548621	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	9.150000	0.94667	2.468000	0.83385	0.561000	0.74099	AGG		0.572	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1		Missense_Mutation	26	101	0	0	0	0.004656	0	26	101				
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:56294052C>A	ENST00000393119.2	-	3	310	c.236G>T	c.(235-237)gGg>gTg	p.G79V	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.G79V|MKS1_ENST00000537529.2_Missense_Mutation_p.G69V|LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000313863.6_Missense_Mutation_p.G79V	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	79					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.G79V(4)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCCACCCAATCACAAT	0.502																																							uc002ivr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(235-237)GGG>GTG		Meckel syndrome type 1 protein isoform 1							166.0	169.0	168.0					17																	56294052		1988	4172	6160	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56294052C>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.236G>T	17.37:g.56294052C>A	ENSP00000376827:p.Gly79Val					MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.G79V	p.G79V	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			3	311	-			79					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.236G>T	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083463|3.083463	0.55861|0.55861	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	.|T;T;T;T	.|0.64085	.|-0.08;1.45;-0.08;-0.08	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.239862|0.239862	0.33938|0.33938	U|U	0.004401|0.004401	T|T	0.55065|0.55065	0.1897|0.1897	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43826	.|0.818;0.549	.|B;B	.|0.36885	.|0.235;0.1	T|T	0.57312|0.57312	-0.7833|-0.7833	7|10	0.62326|0.38643	D|T	0.03|0.18	-13.8828|-13.8828	12.5076|12.5076	0.55989|0.55989	0.0:0.8328:0.1672:0.0|0.0:0.8328:0.1672:0.0	.|.	.|79;79	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	C|V	80|69;79;79;79	.|ENSP00000442096:G69V;ENSP00000376828:G79V;ENSP00000376827:G79V;ENSP00000338407:G79V	ENSP00000316631:G80C|ENSP00000338407:G79V	G|G	-|-	1|2	0|0	MKS1|MKS1	53649051|53649051	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.901000|2.901000	0.48695|0.48695	2.885000|2.885000	0.99019|0.99019	0.643000|0.643000	0.83706|0.83706	GGT|GGG		0.502	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		7	41	1	0	0.000274275	0.004482	0.00030515	7	41				
CLTC	1213	broad.mit.edu	37	17	57743971	57743971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:57743971G>T	ENST00000269122.3	+	12	2187	c.1913G>T	c.(1912-1914)cGt>cTt	p.R638L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.R638L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	638	Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.R638L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATATAAAACGTGCAGTGGTT	0.388			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(1912-1914)CGT>CTT		clathrin heavy chain 1							103.0	95.0	97.0					17																	57743971		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57743971G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1913G>T	17.37:g.57743971G>T	ENSP00000269122:p.Arg638Leu					CLTC_uc002ixp.2_Missense_Mutation_p.R638L|CLTC_uc002ixr.1_Missense_Mutation_p.R642L	p.R638L	NM_004859	NP_004850	Q00610	CLH1_HUMAN			12	2356	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		638			Heavy chain arm.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1913G>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555524	0.96514	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21361	2.01;2.01	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.998;1.0	T	0.72014	-0.4418	10	0.87932	D	0	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	638;638	Q00610;Q00610-2	CLH1_HUMAN;.	L	638	ENSP00000269122:R638L;ENSP00000376763:R638L	ENSP00000269122:R638L	R	+	2	0	CLTC	55098753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CGT		0.388	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		3	47	1	0	6.4e-05	0.004672	7.2705e-05	3	47				
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:71397871G>A	ENST00000392650.3	-	20	2701	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SDK2_ENST00000388726.3_Silent_p.L901L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	901	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L901L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAAGCTCAGGTGTCCCACG	0.577																																							uc010dfm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2701-2703)CTG>TTG		sidekick 2							60.0	55.0	57.0					17																	71397871		2202	4298	6500	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71397871G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2701C>T	17.37:g.71397871G>A						SDK2_uc002jjt.3_Silent_p.L60L|SDK2_uc010dfn.2_Silent_p.L580L	p.L901L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			20	2701	-			901			Fibronectin type-III 4.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.2701C>T	CCDS45769.1																																																																																				0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	5	0	0	0	0.000602	0	5	5				
H3F3B	3021	broad.mit.edu	37	17	73780812	73780812	+	Intron	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780812G>A	ENST00000586607.1	-	1	111				UNK_ENST00000293218.3_Missense_Mutation_p.D27N|MIR4738_ENST00000579134.1_RNA|UNK_ENST00000589666.1_5'Flank			P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.D27N(2)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCCAGCCGGACATAGAACC	0.647																																							uc002jpm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(79-81)GAC>AAC		zinc finger CCCH-type domain containing 5							29.0	35.0	33.0					17																	73780812		1906	4131	6037	SO:0001627	intron_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780812G>A	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000586607.1:c.9+644C>T	17.37:g.73780812G>A						UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	p.D27N	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	79	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000586607.1	37	c.79G>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158294	0.21454	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.99	-3.66	0.04489	.	.	.	.	.	T	0.16471	0.0396	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35276	-0.9795	5	0.11794	T	0.64	.	7.3345	0.26603	0.33:0.3179:0.3521:0.0	.	.	.	.	N	27	.	ENSP00000293218:D27N	D	+	1	0	UNK	71292407	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.011000	0.12721	-0.319000	0.08652	-0.302000	0.09304	GAC		0.647	H3F3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448507.1	NM_005324		5	41	0	0	0	0.001984	0	5	41				
H3F3B	3021	broad.mit.edu	37	17	73780814	73780814	+	Intron	SNP	C	C	A	rs377217779		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780814C>A	ENST00000586607.1	-	1	111				UNK_ENST00000293218.3_Missense_Mutation_p.D27E|MIR4738_ENST00000579134.1_RNA|UNK_ENST00000589666.1_5'Flank			P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.D27E(2)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCGGACATAGAACCAC	0.642																																							uc002jpm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(79-81)GAC>GAA		zinc finger CCCH-type domain containing 5							29.0	36.0	33.0					17																	73780814		1909	4131	6040	SO:0001627	intron_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780814C>A	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000586607.1:c.9+642G>T	17.37:g.73780814C>A						UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	p.D27E	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	81	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000586607.1	37	c.81C>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293835	0.40594	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.99	-4.83	0.03161	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38457	-0.9660	5	0.48119	T	0.1	.	2.6091	0.04886	0.2472:0.1526:0.4103:0.19	.	.	.	.	E	27	.	ENSP00000293218:D27E	D	+	3	2	UNK	71292409	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.239000	0.08965	-0.391000	0.07763	0.655000	0.94253	GAC		0.642	H3F3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448507.1	NM_005324		5	41	1	0	3.59834e-05	0.001168	4.1273e-05	5	41				
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:74395027C>T	ENST00000319380.7	-	10	1738	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.M558I(4)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCCTGCCACATCACGTCGG	0.622																																							uc002jrm.3		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)|skin(2)|lung(1)	5						c.(1672-1674)ATG>ATA		ubiquitin-conjugating enzyme E2O							132.0	99.0	110.0					17																	74395027		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74395027C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1674G>A	17.37:g.74395027C>T	ENSP00000323687:p.Met558Ile					UBE2O_uc002jrn.3_Missense_Mutation_p.M558I|UBE2O_uc002jrl.3_Missense_Mutation_p.M161I	p.M558I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			10	1739	-			558					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.1674G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723039	0.48728	.	.	ENSG00000175931	ENST00000319380	T	0.72725	-0.68	5.11	4.13	0.48395	.	0.096295	0.64402	D	0.000002	T	0.59335	0.2186	L	0.40543	1.245	0.50171	D	0.999855	B	0.26002	0.139	B	0.19946	0.027	T	0.54403	-0.8299	10	0.12430	T	0.62	-18.933	15.1376	0.72579	0.1426:0.8574:0.0:0.0	.	558	Q9C0C9	UBE2O_HUMAN	I	558	ENSP00000323687:M558I	ENSP00000323687:M558I	M	-	3	0	UBE2O	71906622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	1.267000	0.44247	0.561000	0.74099	ATG		0.622	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		11	57	0	0	0	0.002445	0	11	57				
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Splice_Site	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:2698038A>T	ENST00000320876.6	+	10	1679	c.1341A>T	c.(1339-1341)tcA>tcT	p.S447S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.S447S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	447					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S447S(4)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTTTCCATCAAGTATGTTAA	0.333																																							uc002klm.3		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(1339-1341)TCA>TCT		structural maintenance of chromosomes flexible							94.0	81.0	85.0					18																	2698038		1842	4097	5939	SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2698038A>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1342+1A>T	18.37:g.2698038A>T						SMCHD1_uc002klk.3_5'Flank	p.S447S	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			10	1530	+			447					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.1341A>T	CCDS45822.1																																																																																				0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Silent	3	8	0	0	0	0.004672	0	3	8				
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:7015801A>T	ENST00000389658.3	-	22	3139	c.3046T>A	c.(3046-3048)Tgc>Agc	p.C1016S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1016	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.C1016S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGAGGGGGGCAGACACACTCT	0.552																																							uc002knm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3046-3048)TGC>AGC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						131.0	117.0	122.0					18																	7015801		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7015801A>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3046T>A	18.37:g.7015801A>T	ENSP00000374309:p.Cys1016Ser					LAMA1_uc010wzj.1_Missense_Mutation_p.C492S	p.C1016S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			22	3140	-		Colorectal(10;0.172)	1016			Laminin EGF-like 11.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3046T>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429232	0.62844	.	.	ENSG00000101680	ENST00000389658	D	0.94280	-3.39	5.36	5.36	0.76844	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99790	1.1031	10	0.87932	D	0	.	15.6451	0.77042	1.0:0.0:0.0:0.0	.	1016	P25391	LAMA1_HUMAN	S	1016	ENSP00000374309:C1016S	ENSP00000374309:C1016S	C	-	1	0	LAMA1	7005801	1.000000	0.71417	0.922000	0.36590	0.041000	0.13682	9.197000	0.94985	2.158000	0.67659	0.523000	0.50628	TGC		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		36	126	0	0	0	0.005524	0	36	126				
GAREM	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	C	A	rs146498252		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:29867330C>A	ENST00000269209.6	-	4	1233	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Silent_p.G410G|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	410					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.G410G(2)									CCCAATCTCCCCCCAGGTCCC	0.537																																							uc002kxl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1228-1230)GGG>GGT		family with sequence similarity 59, member A							99.0	95.0	97.0					18																	29867330		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867330C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1230G>T	18.37:g.29867330C>A						FAM59A_uc002kxk.1_Silent_p.G410G	p.G410G	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1286	-			410					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1230G>T	CCDS56057.1																																																																																				0.537	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		27	102	1	0	7.92952e-12	0.003954	1.10901e-11	27	102				
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:43217060C>T	ENST00000255226.6	+	6	1572	c.756C>T	c.(754-756)ggC>ggT	p.G252G	SLC14A2_ENST00000586448.1_Silent_p.G252G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	252					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.G252G(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCACAGGCCACTACAACC	0.512																																							uc010dnj.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(754-756)GGC>GGT		solute carrier family 14 (urea transporter),							194.0	161.0	172.0					18																	43217060		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43217060C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.756C>T	18.37:g.43217060C>T						SLC14A2_uc002lbb.2_Silent_p.G252G|SLC14A2_uc002lbe.2_Silent_p.G252G	p.G252G	NM_007163	NP_009094	Q15849	UT2_HUMAN			7	1077	+			252			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.756C>T	CCDS11924.1																																																																																				0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			81	111	0	0	0	0.00361	0	81	111				
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:50923679C>A	ENST00000442544.2	+	18	3306	c.2690C>A	c.(2689-2691)tCa>tAa	p.S897*	DCC_ENST00000412726.1_Splice_Site_p.S725*|DCC_ENST00000581580.1_Splice_Site_p.S532*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	897	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.S897*(2)		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)		CTTGTATAGTCAGAAGACACA	0.328																																							uc002lfe.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2689-2691)TCA>TAA		netrin receptor DCC precursor							95.0	87.0	90.0					18																	50923679		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923679C>A	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.2689-1C>A	18.37:g.50923679C>A						DCC_uc010xdr.1_Nonsense_Mutation_p.S725*|DCC_uc010dpf.1_Nonsense_Mutation_p.S532*	p.S897*	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3277	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	897			Extracellular (Potential).|Fibronectin type-III 5.			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.2690C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	41	8.837928	0.98972	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	.	.	.	X	897;725	.	ENSP00000397322:S725X	S	+	2	0	DCC	49177677	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.961000	0.70356	2.741000	0.93983	0.650000	0.86243	TCA		0.328	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Nonsense_Mutation	10	28	1	0	1.58986e-06	0.008291	1.92799e-06	10	28				
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:63547735G>T	ENST00000397968.2	+	12	2389	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D655Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D655Y(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGATACGATGACGAGGGCGG	0.493																																							uc002ljz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(1963-1965)GAC>TAC		cadherin 7, type 2 preproprotein							70.0	72.0	71.0					18																	63547735		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547735G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1963G>T	18.37:g.63547735G>T	ENSP00000381058:p.Asp655Tyr					CDH7_uc002lkb.2_Missense_Mutation_p.D655Y	p.D655Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2288	+		Esophageal squamous(42;0.129)	655			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1963G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494498	0.44352	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.83335	-1.71;-1.71	5.61	5.61	0.85477	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93707	0.7020	10	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	655	Q9ULB5	CADH7_HUMAN	Y	655	ENSP00000319166:D655Y;ENSP00000381058:D655Y	ENSP00000319166:D655Y	D	+	1	0	CDH7	61698715	1.000000	0.71417	0.205000	0.23548	0.018000	0.09664	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GAC		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		20	58	1	0	7.45023e-12	0.010504	1.04444e-11	20	58				
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74154334G>A	ENST00000443185.2	-	3	994	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					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.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCCCCTGCGCGGTGATGTG	0.697																																							uc010dqx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(676-678)GCG>GTG		zinc finger protein 516							17.0	19.0	19.0					18																	74154334		2129	4243	6372	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154334G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.677C>T	18.37:g.74154334G>A	ENSP00000394757:p.Ala226Val					ZNF516_uc002lme.2_RNA	p.A226V	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	912	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	226						Missense_Mutation	SNP	ENST00000443185.2	37	c.677C>T		.	.	.	.	.	.	.	.	.	.	G	14.53	2.564179	0.45694	.	.	ENSG00000101493	ENST00000443185	T	0.11495	2.77	4.4	3.51	0.40186	.	0.073018	0.53938	N	0.000045	T	0.10423	0.0255	.	.	.	0.42041	D	0.991075	B	0.24768	0.111	B	0.20955	0.032	T	0.08932	-1.0698	9	0.52906	T	0.07	-2.0811	12.9548	0.58421	0.0803:0.0:0.9197:0.0	.	226	Q92618	ZN516_HUMAN	V	226	ENSP00000394757:A226V	ENSP00000394757:A226V	A	-	2	0	ZNF516	72283322	1.000000	0.71417	0.899000	0.35326	0.867000	0.49689	5.141000	0.64814	1.179000	0.42884	0.563000	0.77884	GCG		0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		11	31	0	0	0	0.001368	0	11	31				
GALR1	2587	broad.mit.edu	37	18	74963084	74963085	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74963084_74963085CC>AA	ENST00000299727.3	+	1	580_581	c.580_581CC>AA	c.(580-582)CCt>AAt	p.P194N		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					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.P194N(2)		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)		GTGGCCCGACCCTCGCCACAAG	0.663																																							uc002lms.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(580-582)CCT>AAT		galanin receptor 1																																				SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74963084_74963085CC>AA	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	Exception_encountered	18.37:g.74963084_74963085delinsAA	ENSP00000299727:p.Pro194Asn						p.P194N	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	1077_1078	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	194			Extracellular (Potential).		Q4VBL7	Missense_Mutation	DNP	ENST00000299727.3	37	c.580_581CC>AA	CCDS12012.1																																																																																				0.663	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			27	115	0	0	0	0.004672	0	27	115				
PLPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:814479G>T	ENST00000520876.3	-	7	864	c.786C>A	c.(784-786)gaC>gaA	p.D262E	LPPR3_ENST00000359894.2_Missense_Mutation_p.D290E|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		262						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)	p.D290E(2)									CGGCATACACGTCCACAGGGT	0.657																																							uc002lpx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(784-786)GAC>GAA		plasticity-related protein 2							40.0	40.0	40.0					19																	814479		2192	4297	6489	SO:0001583	missense	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:814479G>T																												ENST00000520876.3:c.786C>A	19.37:g.814479G>T	ENSP00000430297:p.Asp262Glu					LPPR3_uc010dru.1_Missense_Mutation_p.D174E|LPPR3_uc002lpw.1_Missense_Mutation_p.D290E|LPPR3_uc002lpy.1_Missense_Mutation_p.D43E	p.D262E	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN			7	850	-			262					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.786C>A	CCDS58636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.226373|4.226373	0.79576|0.79576	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876|ENST00000517665;ENST00000521445	D;D|.	0.94613|.	-3.47;-3.47|.	4.66|4.66	-3.59|-3.59	0.04583|0.04583	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);|.	0.055314|.	0.64402|.	D|.	0.000001|.	T|T	0.68513|0.68513	0.3009|0.3009	M|M	0.85945|0.85945	2.785|2.785	0.42896|0.42896	D|D	0.994213|0.994213	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.77004|.	0.982;0.989;0.949|.	T|T	0.66921|0.66921	-0.5801|-0.5801	10|5	0.87932|.	D|.	0|.	-21.9879|-21.9879	5.6598|5.6598	0.17662|0.17662	0.4018:0.0:0.4768:0.1214|0.4018:0.0:0.4768:0.1214	.|.	263;262;290|.	Q6T4P5-2;Q6T4P5;Q6T4P5-3|.	.;LPPR3_HUMAN;.|.	E|S	263;290;262|51;212	ENSP00000352962:D290E;ENSP00000430297:D262E|.	ENSP00000300947:D263E|.	D|R	-|-	3|1	2|0	AC006273.1|AC006273.1	765479|765479	0.612000|0.612000	0.27000|0.27000	0.681000|0.681000	0.30009|0.30009	0.679000|0.679000	0.39708|0.39708	-0.185000|-0.185000	0.09684|0.09684	-0.906000|-0.906000	0.03866|0.03866	0.555000|0.555000	0.69702|0.69702	GAC|CGT		0.657	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			10	28	1	0	1.08611e-07	0.000978	1.36454e-07	10	28				
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:1254919A>T	ENST00000591446.2	+	5	1124	c.715A>T	c.(715-717)Acg>Tcg	p.T239S	MIDN_ENST00000300952.2_Missense_Mutation_p.T239S			Q504T8	MIDN_HUMAN	midnolin	239						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.T239S(2)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCCCCCACGGCCAGCAG	0.667																																							uc002lrp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(715-717)ACG>TCG		midnolin							65.0	71.0	69.0					19																	1254919		2203	4300	6503	SO:0001583	missense	90007					nucleolus		g.chr19:1254919A>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.715A>T	19.37:g.1254919A>T	ENSP00000467679:p.Thr239Ser						p.T239S	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1230	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	239					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.715A>T	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	A	2.329	-0.353850	0.05173	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.62	-7.24	0.01475	.	1.221640	0.05819	N	0.615407	T	0.13286	0.0322	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35773	-0.9775	9	0.02654	T	1	-0.0415	8.2207	0.31539	0.2589:0.2387:0.5024:0.0	.	239	Q504T8	MIDN_HUMAN	S	239	.	ENSP00000300952:T239S	T	+	1	0	MIDN	1205919	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.410000	0.21098	-1.751000	0.01326	-1.235000	0.01560	ACG		0.667	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			46	135	0	0	0	0.00361	0	46	135				
MUC16	94025	broad.mit.edu	37	19	9012894	9012894	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9012894A>T	ENST00000397910.4	-	34	38753	c.38550T>A	c.(38548-38550)gcT>gcA	p.A12850A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12852				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.A2A(1)|p.A12850A(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						GGAGAGGGCCAGCAGCTGTAG	0.463																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38548-38550)GCT>GCA		mucin 16							240.0	204.0	216.0					19																	9012894		2016	4162	6178	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012894A>T	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.38550T>A	19.37:g.9012894A>T						MUC16_uc010xki.1_RNA	p.A12850A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			34	38754	-			12852	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38550T>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	268	0	0	0	0.006214	0	9	268				
MUC16	94025	broad.mit.edu	37	19	9063110	9063110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9063110C>G	ENST00000397910.4	-	3	24539	c.24336G>C	c.(24334-24336)caG>caC	p.Q8112H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8114	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.Q8112H(2)|p.Q3745H(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						TTGGTTCTGTCTGAATTCTGC	0.498																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24334-24336)CAG>CAC		mucin 16							133.0	129.0	131.0					19																	9063110		2014	4185	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063110C>G	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.24336G>C	19.37:g.9063110C>G	ENSP00000381008:p.Gln8112His						p.Q8112H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24540	-			8114			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24336G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.152	-0.173967	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	3.09	-6.17	0.02091	.	.	.	.	.	T	0.12561	0.0305	N	0.22421	0.69	.	.	.	B	0.11235	0.004	B	0.06405	0.002	T	0.30563	-0.9974	8	0.87932	D	0	.	2.8514	0.05559	0.1222:0.1719:0.4918:0.2141	.	8112	B5ME49	.	H	8112	ENSP00000381008:Q8112H	ENSP00000381008:Q8112H	Q	-	3	2	MUC16	8924110	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.501000	0.00966	-1.588000	0.01627	-1.312000	0.01307	CAG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	172	0	0	0	0.009096	0	4	172				
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9065905T>A	ENST00000397910.4	-	3	21744	c.21541A>T	c.(21541-21543)Aca>Tca	p.T7181S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	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.T7181S(4)|p.T2814S(2)		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						GACGCTGCTGTGTTTGTGGAA	0.493																																							uc002mkp.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21541-21543)ACA>TCA		mucin 16							198.0	185.0	189.0					19																	9065905		2114	4234	6348	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065905T>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.21541A>T	19.37:g.9065905T>A	ENSP00000381008:p.Thr7181Ser						p.T7181S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21745	-			7183			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21541A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.072	0.381528	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.26660	1.72	2.45	0.244	0.15507	.	.	.	.	.	T	0.23766	0.0575	L	0.50333	1.59	.	.	.	P	0.44659	0.84	P	0.44518	0.452	T	0.27468	-1.0073	8	0.87932	D	0	.	4.6277	0.12486	0.0:0.3228:0.0:0.6772	.	7181	B5ME49	.	S	7181	ENSP00000381008:T7181S	ENSP00000381008:T7181S	T	-	1	0	MUC16	8926905	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.152000	0.16302	-0.017000	0.14103	0.157000	0.16456	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	167	0	0	0	0.00361	0	49	167				
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9071876A>G	ENST00000397910.4	-	3	15773	c.15570T>C	c.(15568-15570)ccT>ccC	p.P5190P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	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.P5190P(4)|p.P823P(2)		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						CTCTCAGTCTAGGAGTCAAGA	0.483																																							uc002mkp.2		NA																	6	Substitution - coding silent(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15568-15570)CCT>CCC		mucin 16							230.0	215.0	219.0					19																	9071876		1938	4149	6087	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071876A>G	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.15570T>C	19.37:g.9071876A>G							p.P5190P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15774	-			5192			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15570T>C	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		129	328	0	0	0	0.00361	0	129	328				
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	G	T	rs140718122		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:16025585G>T	ENST00000402119.4	-	9	1662	c.1236C>A	c.(1234-1236)cgC>cgA	p.R412R	CYP4F11_ENST00000591841.1_Silent_p.R87R|CYP4F11_ENST00000326742.8_Silent_p.R412R|CYP4F11_ENST00000248041.8_Silent_p.R412R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.R412R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGGGGATGACGCGGCCGTCTG	0.632																																							uc002nbu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1234-1236)CGC>CGA		cytochrome P450 family 4 subfamily F polypeptide							75.0	77.0	76.0					19																	16025585		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025585G>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1236C>A	19.37:g.16025585G>T						CYP4F11_uc010eab.1_Silent_p.R412R|CYP4F11_uc002nbt.2_Silent_p.R412R	p.R412R	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			10	1272	-			412						Silent	SNP	ENST00000402119.4	37	c.1236C>A	CCDS12337.1																																																																																				0.632	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		33	94	1	0	2.42023e-17	0.003271	3.81701e-17	33	94				
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:18968170G>C	ENST00000599848.1	+	15	2252	c.2043G>C	c.(2041-2043)gtG>gtC	p.V681V	UPF1_ENST00000262803.5_Silent_p.V670V			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	681					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V670V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAGTGGTGATGTGCAAGA	0.627																																							uc002nkg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2041-2043)GTG>GTC		regulator of nonsense transcripts 1							41.0	47.0	45.0					19																	18968170		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968170G>C	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2043G>C	19.37:g.18968170G>C						UPF1_uc002nkf.2_Silent_p.V670V|UPF1_uc002nkh.2_5'Flank	p.V681V	NM_002911	NP_002902	Q92900	RENT1_HUMAN			15	2318	+			681					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2043G>C																																																																																					0.627	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		26	107	0	0	0	0.00632	0	26	107				
NDUFA13	51079	broad.mit.edu	37	19	19638158	19638159	+	Missense_Mutation	DNP	GG	GG	TT	rs546808333	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:19638158_19638159GG>TT	ENST00000507754.4	+	3	726_727	c.242_243GG>TT	c.(241-243)cGG>cTT	p.R81L	NDUFA13_ENST00000503283.1_Missense_Mutation_p.R81L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.R81L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R81L|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.R81L|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R164L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.R81L			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	81					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.R164L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GAAACCGACCGGAGGTAGCACC	0.634																																							uc010xqy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(490-492)CGG>CTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)																																			SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19638158_19638159GG>TT	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	Exception_encountered	19.37:g.19638158_19638159delinsTT	ENSP00000423673:p.Arg81Leu					NDUFA13_uc002nms.2_Missense_Mutation_p.R164L|NDUFA13_uc010xqx.1_Missense_Mutation_p.R164L|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank	p.R164L	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			3	750_751	+			81					B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	DNP	ENST00000507754.4	37	c.491_492GG>TT	CCDS12404.2																																																																																				0.634	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		9	59	0	0	0	0.004672	0	9	59				
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																							uc002nrn.2		NA																	12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		4	54	0	0	0	0.009096	0	4	54				
C19orf40	91442	broad.mit.edu	37	19	33464469	33464469	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:33464469G>A	ENST00000588258.1	+	3	353		c.e3+1		CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Splice_Site|CEP89_ENST00000591863.1_5'Flank|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000589646.1_Splice_Site	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40						DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTTAGAAATGTAAGTATTAg	0.502								Direct reversal of damage																															uc002nud.3		NA																	0					0						c.e3+1	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							96.0	91.0	93.0					19																	33464469		2203	4300	6503	SO:0001630	splice_region_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464469G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.243+1G>A	19.37:g.33464469G>A						CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	p.N81_splice	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			3	361	+	Esophageal squamous(110;0.137)							B3KY46|Q8WUJ7|Q96FX6	Splice_Site	SNP	ENST00000588258.1	37	c.243_splice	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628890	0.67015	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2792	0.87123	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf40	38156309	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.719000	0.91436	2.250000	0.74265	0.484000	0.47621	.		0.502	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266	Intron	5	224	0	0	0	0.000602	0	5	224				
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:33588796A>G	ENST00000170564.2	+	8	1302	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.K330E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGGCAGTATAAAAACCAGAA	0.507																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(988-990)AAA>GAA		G patch domain containing 1							102.0	106.0	105.0					19																	33588796		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33588796A>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.988A>G	19.37:g.33588796A>G	ENSP00000170564:p.Lys330Glu						p.K330E	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			8	1302	+	Esophageal squamous(110;0.137)		330					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.988A>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267448	0.40095	.	.	ENSG00000076650	ENST00000170564	T	0.12672	2.66	5.8	4.77	0.60923	.	0.575063	0.21488	N	0.073734	T	0.16981	0.0408	M	0.69823	2.125	0.40448	D	0.980119	B	0.18310	0.027	B	0.18871	0.023	T	0.03641	-1.1017	10	0.18276	T	0.48	-5.746	12.258	0.54634	0.8429:0.1571:0.0:0.0	.	330	Q9BRR8	GPTC1_HUMAN	E	330	ENSP00000170564:K330E	ENSP00000170564:K330E	K	+	1	0	GPATCH1	38280636	0.998000	0.40836	0.017000	0.16124	0.903000	0.53119	4.542000	0.60677	1.011000	0.39340	0.533000	0.62120	AAA		0.507	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		34	126	0	0	0	0.00874	0	34	126				
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:36430769G>T	ENST00000588831.1	+	3	1496	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A148S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	148					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A148S(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCTGGCGGCCGGCGCCCT	0.677																																							uc002oco.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GCC>TCC		leucine rich repeat and fibronectin type III							32.0	32.0	32.0					19																	36430769		2184	4272	6456	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430769G>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.442G>T	19.37:g.36430769G>T	ENSP00000466989:p.Ala148Ser						p.A148S	NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	894	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		148			LRR 4.|Extracellular (Potential).		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.442G>T	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.489737	0.01018	.	.	ENSG00000126243	ENST00000246529	T	0.51325	0.71	4.53	3.4	0.38934	.	0.000000	0.32970	N	0.005437	T	0.24547	0.0595	N	0.12663	0.25	0.09310	N	1	B	0.21753	0.06	B	0.25987	0.065	T	0.19844	-1.0293	10	0.02654	T	1	.	10.6733	0.45770	0.0:0.3311:0.6689:0.0	.	148	Q9BTN0	LRFN3_HUMAN	S	148	ENSP00000246529:A148S	ENSP00000246529:A148S	A	+	1	0	LRFN3	41122609	0.003000	0.15002	0.331000	0.25455	0.599000	0.36880	0.312000	0.19397	2.217000	0.71921	0.557000	0.71058	GCC		0.677	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		12	30	1	0	1.52009e-12	0.003163	2.16686e-12	12	30				
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:38939385T>G	ENST00000359596.3	+	11	1054	c.1054T>G	c.(1054-1056)Tca>Gca	p.S352A	RYR1_ENST00000355481.4_Missense_Mutation_p.S352A|RYR1_ENST00000360985.3_Missense_Mutation_p.S352A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	352	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S352A(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATGTGGCCTCAGGACTGTG	0.617																																							uc002oit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1054-1056)TCA>GCA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						84.0	76.0	78.0					19																	38939385		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939385T>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1054T>G	19.37:g.38939385T>G	ENSP00000352608:p.Ser352Ala					RYR1_uc002oiu.2_Missense_Mutation_p.S352A	p.S352A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1184	+	all_cancers(60;7.91e-06)		352			Cytoplasmic.|MIR 5.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1054T>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.036006	0.35893	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.87029	-2.2;-2.2;-2.2	4.59	4.59	0.56863	MIR motif (2);MIR (2);	0.315108	0.23338	U	0.049262	D	0.87358	0.6157	M	0.64404	1.975	0.31420	N	0.674398	P;P	0.51147	0.942;0.756	P;P	0.50659	0.647;0.627	D	0.87868	0.2669	10	0.66056	D	0.02	.	7.4482	0.27223	0.3055:0.0:0.0:0.6945	.	352;352	P21817-2;P21817	.;RYR1_HUMAN	A	352	ENSP00000352608:S352A;ENSP00000347667:S352A;ENSP00000354254:S352A	ENSP00000347667:S352A	S	+	1	0	RYR1	43631225	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.212000	0.65225	1.924000	0.55735	0.459000	0.35465	TCA		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			28	84	0	0	0	0.008361	0	28	84				
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:40541382G>C	ENST00000434248.1	-	5	1449	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q314E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462					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.Q462E(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGCAATGTTGAATAAGTTGG	0.378																																							uc002omu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(1384-1386)CAA>GAA		zinc finger protein 780B							135.0	138.0	137.0					19																	40541382		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541382G>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1384C>G	19.37:g.40541382G>C	ENSP00000391641:p.Gln462Glu					ZNF780B_uc002omv.2_Missense_Mutation_p.Q314E	p.Q462E	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		462			C2H2-type 11.		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1384C>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.017502	0.00042	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06608	3.28;3.28	2.2	-4.4	0.03600	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42882	-0.9425	9	0.02654	T	1	.	3.087	0.06280	0.1154:0.4808:0.1557:0.248	.	462	Q9Y6R6	Z780B_HUMAN	E	462;314	ENSP00000391641:Q462E;ENSP00000221355:Q314E	ENSP00000221355:Q314E	Q	-	1	0	ZNF780B	45233222	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.038000	0.12144	-1.855000	0.01162	-0.705000	0.03659	CAA		0.378	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		17	107	0	0	0	0.00499	0	17	107				
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:46914764C>G	ENST00000307522.3	-	1	2077	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G435A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCCAGCCCGGGC	0.597																																							uc002pep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1303-1305)GGC>GCC		coiled-coil domain containing 8							66.0	59.0	61.0					19																	46914764		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914764C>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1304G>C	19.37:g.46914764C>G	ENSP00000303158:p.Gly435Ala						p.G435A	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2156	-			435					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1304G>C	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.222|4.222	0.039988|0.039988	0.08148|0.08148	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000540252|ENST00000307522	.|T	.|0.12465	.|2.68	2.92|2.92	-5.84|-5.84	0.02318|0.02318	.|.	.|.	.|.	.|.	.|.	T|T	0.05823|0.05823	0.0152|0.0152	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	T|T	0.35151|0.35151	-0.9800|-0.9800	6|9	0.36615|0.23302	T|T	0.2|0.38	0.1557|0.1557	0.3819|0.3819	0.00396|0.00396	0.2191:0.2641:0.2213:0.2954|0.2191:0.2641:0.2213:0.2954	.|.	.|435	.|Q9H0W5	.|CCDC8_HUMAN	P|A	282|435	.|ENSP00000303158:G435A	ENSP00000441180:A282P|ENSP00000303158:G435A	A|G	-|-	1|2	0|0	CCDC8|CCDC8	51606604|51606604	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.257000|-2.257000	0.01180|0.01180	-2.640000|-2.640000	0.00429|0.00429	-2.439000|-2.439000	0.00212|0.00212	GCC|GGC		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		37	83	0	0	0	0.004878	0	37	83				
ARHGAP35	2909	broad.mit.edu	37	19	47491246	47491246	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:47491246G>T	ENST00000404338.3	+	3	3827	c.3827G>T	c.(3826-3828)gGa>gTa	p.G1276V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.G1276V(4)									TTCTCCTCAGGACTGAGCACG	0.552																																							uc010ekv.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(3826-3828)GGA>GTA		glucocorticoid receptor DNA binding factor 1							58.0	62.0	61.0					19																	47491246		2166	4281	6447	SO:0001630	splice_region_variant	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.chr19:47491246G>T	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.3827-1G>T	19.37:g.47491246G>T							p.G1276V	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)	3	3827	+		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)	1276			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3827G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867999	0.72065	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.58210	0.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86345	0.1707	9	.	.	.	.	17.9825	0.89146	0.0:0.0:1.0:0.0	.	1276	Q9NRY4-2	.	V	1276	ENSP00000385720:G1276V	.	G	+	2	0	ARHGAP35	52183086	1.000000	0.71417	0.961000	0.40146	0.394000	0.30568	9.029000	0.93718	2.556000	0.86216	0.655000	0.94253	GGA		0.552	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	Missense_Mutation	12	29	1	0	0.00010058	0.001368	0.000112962	12	29				
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48519237G>T	ENST00000339841.2	+	4	474	c.296G>T	c.(295-297)tGg>tTg	p.W99L	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	99	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.W99L(2)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCAGTCTGTGGTGCTCAGTC	0.507																																							uc002pht.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(295-297)TGG>TTG		epididymal sperm binding protein 1 precursor							134.0	114.0	120.0					19																	48519237		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519237G>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.296G>T	19.37:g.48519237G>T	ENSP00000340660:p.Trp99Leu						p.W99L	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	4	451	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	99			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.296G>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427547	0.43122	.	.	ENSG00000169393	ENST00000339841	T	0.76578	-1.03	3.55	3.55	0.40652	Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);	0.000000	0.43110	D	0.000603	D	0.90642	0.7065	H	0.96269	3.795	0.32439	N	0.547028	D	0.89917	1.0	D	0.97110	1.0	D	0.92656	0.6137	10	0.87932	D	0	.	11.3344	0.49494	0.0:0.0:1.0:0.0	.	99	Q96BH3	ESPB1_HUMAN	L	99	ENSP00000340660:W99L	ENSP00000340660:W99L	W	+	2	0	ELSPBP1	53211049	1.000000	0.71417	0.996000	0.52242	0.234000	0.25298	3.093000	0.50217	1.902000	0.55061	0.543000	0.68304	TGG		0.507	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			31	91	1	0	1.62565e-12	0.002445	2.30624e-12	31	91				
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48790040C>T	ENST00000595607.1	+	6	1653	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF114_ENST00000315849.1_Missense_Mutation_p.P387S|ZNF114_ENST00000597695.1_Missense_Mutation_p.P353S|ZNF114_ENST00000600687.1_Missense_Mutation_p.P387S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P387S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGAGAGAAACCCTATAAATG	0.408																																							uc002pil.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1159-1161)CCC>TCC		zinc finger protein 114							91.0	93.0	92.0					19																	48790040		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48790040C>T	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.1159C>T	19.37:g.48790040C>T	ENSP00000469998:p.Pro387Ser					ZNF114_uc010elv.1_Missense_Mutation_p.P387S|ZNF114_uc002pim.1_Missense_Mutation_p.P387S|ZNF114_uc002pin.2_Missense_Mutation_p.P353S	p.P387S	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	1656	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	387					A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.1159C>T	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290432	0.59976	.	.	ENSG00000178150	ENST00000315849	T	0.28454	1.61	2.35	2.35	0.29111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54838	0.1883	M	0.82630	2.6	0.34152	D	0.667616	D	0.89917	1.0	D	0.79784	0.993	T	0.68815	-0.5309	9	0.62326	D	0.03	.	10.7977	0.46470	0.0:1.0:0.0:0.0	.	387	Q8NC26	ZN114_HUMAN	S	387	ENSP00000318898:P387S	ENSP00000318898:P387S	P	+	1	0	ZNF114	53481852	0.983000	0.35010	0.854000	0.33618	0.258000	0.26162	2.661000	0.46758	1.662000	0.50781	0.205000	0.17691	CCC		0.408	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		49	166	0	0	0	0.00361	0	49	166				
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49142169G>T	ENST00000084798.4	-	8	1616	c.937C>A	c.(937-939)Cga>Aga	p.R313R	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	313						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.R313R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TTGGGGCCTCGGCAGCGCCTC	0.637																																							uc002pjz.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(937-939)CGA>AGA		carbonic anhydrase XI precursor							15.0	17.0	16.0					19																	49142169		2201	4300	6501	SO:0001819	synonymous_variant	770					extracellular region		g.chr19:49142169G>T	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.937C>A	19.37:g.49142169G>T						SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.R313R	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	8	1499	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	313					O60596|Q6FHI1|Q9UEC4	Silent	SNP	ENST00000084798.4	37	c.937C>A	CCDS12729.1																																																																																				0.637	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		8	18	1	0	0.000157383	0.00308	0.000176091	8	18				
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49253722C>A	ENST00000310160.3	-	4	1791	c.817G>T	c.(817-819)Gac>Tac	p.D273Y	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	273					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.D273Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGAGGTGTCGATGTTTTCT	0.587																																							uc002pkk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(817-819)GAC>TAC		fucosyltransferase 1							161.0	126.0	138.0					19																	49253722		2203	4300	6503	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253722C>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.817G>T	19.37:g.49253722C>A	ENSP00000312021:p.Asp273Tyr						p.D273Y	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1792	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	273			Lumenal (Potential).		O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.817G>T	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806233	0.31961	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96802	-4.13	4.46	3.43	0.39272	.	0.334365	0.25916	N	0.027462	D	0.97692	0.9243	M	0.83953	2.67	0.24707	N	0.993225	D	0.89917	1.0	D	0.85130	0.997	D	0.92885	0.6326	10	0.87932	D	0	.	10.0789	0.42377	0.0:0.9012:0.0:0.0988	.	273	P19526	FUT1_HUMAN	Y	273;263	ENSP00000312021:D273Y	ENSP00000312021:D273Y	D	-	1	0	FUT1	53945534	0.360000	0.24964	0.199000	0.23439	0.006000	0.05464	1.064000	0.30579	1.248000	0.43934	0.557000	0.71058	GAC		0.587	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		54	126	1	0	4.25531e-23	0.00361	7.14845e-23	54	126				
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51169662G>T	ENST00000293441.1	-	22	5573	c.5555C>A	c.(5554-5556)cCc>cAc	p.P1852H	SHANK1_ENST00000391813.1_Missense_Mutation_p.P1239H|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1860H|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1843H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.P1852H(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGGCCCGGGCAGAGGTGG	0.677																																							uc002psx.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(5554-5556)CCC>CAC		SH3 and multiple ankyrin repeat domains 1							16.0	18.0	17.0					19																	51169662		2200	4298	6498	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169662G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5555C>A	19.37:g.51169662G>T	ENSP00000293441:p.Pro1852His					SHANK1_uc002psw.1_Missense_Mutation_p.P1236H	p.P1852H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5574	-		all_neural(266;0.057)	1852			Poly-Pro.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5555C>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.123744	0.01770	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.38887	1.23;1.72;1.21;1.11	2.59	2.59	0.31030	.	0.806538	0.09987	U	0.730251	T	0.43634	0.1256	L	0.34521	1.04	0.19775	N	0.999952	D;D	0.59767	0.976;0.986	P;P	0.53861	0.549;0.736	T	0.26467	-1.0102	10	0.87932	D	0	.	8.7275	0.34478	0.0:0.0:1.0:0.0	.	1852;1239	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	H	1852;1239;1843;1860	ENSP00000293441:P1852H;ENSP00000375689:P1239H;ENSP00000351984:P1843H;ENSP00000375690:P1860H	ENSP00000293441:P1852H	P	-	2	0	SHANK1	55861474	0.996000	0.38824	0.785000	0.31869	0.069000	0.16628	3.358000	0.52284	1.460000	0.47911	0.195000	0.17529	CCC		0.677	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		12	40	1	0	3.07112e-06	0.000978	3.64235e-06	12	40				
SIGLECL1	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51768891C>A	ENST00000316401.7	+	3	673	c.292C>A	c.(292-294)Cta>Ata	p.L98I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	460	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L98I(2)									TTTGAGCATCCTACTGATGTC	0.537																																							uc002pwb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(292-294)CTA>ATA		hypothetical protein LOC284369							98.0	95.0	96.0					19																	51768891		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51768891C>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.292C>A	19.37:g.51768891C>A	ENSP00000321249:p.Leu98Ile					C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	p.L98I	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			3	673	+			98					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.292C>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014319	0.35511	.	.	ENSG00000179213	ENST00000316401	T	0.42900	0.96	3.59	2.52	0.30459	.	0.312827	0.17847	N	0.160014	T	0.41949	0.1181	M	0.80616	2.505	0.20764	N	0.999853	P	0.36412	0.552	B	0.34652	0.187	T	0.33879	-0.9851	10	0.45353	T	0.12	.	8.2495	0.31708	0.2379:0.7621:0.0:0.0	.	98	Q8N7X8	CS075_HUMAN	I	98	ENSP00000321249:L98I	ENSP00000321249:L98I	L	+	1	2	C19orf75	56460703	0.019000	0.18553	0.753000	0.31225	0.436000	0.31835	0.604000	0.24164	0.810000	0.34279	0.557000	0.71058	CTA		0.537	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		31	141	1	0	5.60225e-13	0.009535	8.10277e-13	31	141				
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51918110C>A	ENST00000339313.5	-	8	1699	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G470V|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G528V			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	528					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G528V(2)|p.G470V(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)		ACTCTGGGCCCCATGGACGTT	0.662																																							uc002pwo.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(1582-1584)GGG>GTG		sialic acid binding Ig-like lectin 10 precursor							55.0	65.0	62.0					19																	51918110		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918110C>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.1583G>T	19.37:g.51918110C>A	ENSP00000345243:p.Gly528Val					SIGLEC10_uc002pwp.2_Missense_Mutation_p.G470V|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron	p.G528V	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	2199	-		all_neural(266;0.0199)	528			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1583G>T	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	17.00	3.277257	0.59758	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.88664	-2.41;-2.41;-2.41	4.83	4.83	0.62350	.	0.000000	0.56097	D	0.000035	D	0.95245	0.8458	M	0.91459	3.21	0.46167	D	0.998908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96013	0.9003	10	0.87932	D	0	.	13.417	0.60974	0.0:1.0:0.0:0.0	.	470;528	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	V	528;470;528	ENSP00000348646:G528V;ENSP00000389132:G470V;ENSP00000345243:G528V	ENSP00000345243:G528V	G	-	2	0	SIGLEC10	56609922	0.277000	0.24220	0.110000	0.21437	0.011000	0.07611	3.533000	0.53561	2.235000	0.73313	0.561000	0.74099	GGG		0.662	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		47	174	1	0	1.86633e-21	0.00361	3.06575e-21	47	174				
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:52272906C>A	ENST00000598776.1	+	2	1767	c.995C>A	c.(994-996)aCt>aAt	p.T332N	FPR2_ENST00000598953.1_Missense_Mutation_p.T332N|FPR2_ENST00000340023.6_Missense_Mutation_p.T332N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.T332N(2)|p.T332I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCCCCAACTAATGACACG	0.537																																							uc002pxr.2		NA																	3	Substitution - Missense(3)	p.T332I(1)	lung(3)	lung(3)|ovary(1)	4						c.(994-996)ACT>AAT		formyl peptide receptor-like 1							69.0	65.0	66.0					19																	52272906		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272906C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.995C>A	19.37:g.52272906C>A	ENSP00000468897:p.Thr332Asn					FPR2_uc002pxs.3_Missense_Mutation_p.T332N|FPR2_uc010epf.2_Missense_Mutation_p.T332N	p.T332N	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	1040	+			332			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.995C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.677630	0.29783	.	.	ENSG00000171049	ENST00000340023	T	0.37235	1.21	4.49	4.49	0.54785	.	0.368066	0.23300	U	0.049695	T	0.34774	0.0909	L	0.49350	1.555	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.22871	-1.0204	10	0.44086	T	0.13	.	15.0079	0.71527	0.0:1.0:0.0:0.0	.	332	P25090	FPR2_HUMAN	N	332	ENSP00000340191:T332N	ENSP00000340191:T332N	T	+	2	0	FPR2	56964718	0.001000	0.12720	0.003000	0.11579	0.008000	0.06430	1.317000	0.33631	2.226000	0.72624	0.484000	0.47621	ACT		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		16	40	1	0	1.01871e-10	0.008871	1.39193e-10	16	40				
ZNF28	7576	broad.mit.edu	37	19	53311270	53311270	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:53311270C>A	ENST00000457749.2	-	3	251	c.132G>T	c.(130-132)ctG>ctT	p.L44L	ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000594602.1_Silent_p.L44L|ZNF28_ENST00000339844.6_Silent_p.L8L|ZNF28_ENST00000438150.2_5'Flank	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L44L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGGGAGACCAGGTTCCTAT	0.493																																							uc002qad.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(130-132)CTG>CTT		zinc finger protein 28																																				SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53311270C>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.132G>T	19.37:g.53311270C>A						ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron	p.L44L	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	252	-			44			KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.132G>T	CCDS33093.2																																																																																				0.493	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		47	156	1	0	1.00221e-16	0.00361	1.56811e-16	47	156				
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Splice_Site	SNP	C	C	A	rs201596732		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54304481C>A	ENST00000324134.6	-	7	2924	c.2756G>T	c.(2755-2757)cGg>cTg	p.R919L	NLRP12_ENST00000345770.5_Splice_Site_p.R920L|NLRP12_ENST00000535162.1_Splice_Site_p.R919L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Splice_Site_p.R919L|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391773.1_Splice_Site_p.R920L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	919					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R919L(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGACTCACCGCAGGGTCTG	0.617																																							uc002qch.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2755-2757)CGG>CTG		NLR family, pyrin domain containing 12 isoform							54.0	54.0	54.0					19																	54304481		2203	4300	6503	SO:0001630	splice_region_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304481C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2756+1G>T	19.37:g.54304481C>A						NLRP12_uc010eqw.2_Missense_Mutation_p.R202L|NLRP12_uc002qci.3_Missense_Mutation_p.R919L|NLRP12_uc002qcj.3_Missense_Mutation_p.R920L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.R919L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	7	2976	-	Ovarian(34;0.19)		919			LRR 4.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2756G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845153	0.51164	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.45	4.41	0.53225	.	0.000000	0.31747	U	0.007139	T	0.66356	0.2781	M	0.72353	2.195	0.39693	D	0.971077	D;D;B;P	0.89917	1.0;1.0;0.0;0.892	D;D;B;B	0.87578	0.982;0.998;0.0;0.334	T	0.69789	-0.5050	9	.	.	.	.	13.8275	0.63359	0.1542:0.8458:0.0:0.0	.	202;919;919;919	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	919;919;202;919;920;920	ENSP00000319377:R919L;ENSP00000438030:R919L;ENSP00000375655:R919L;ENSP00000375653:R920L	.	R	-	2	0	NLRP12	58996293	0.986000	0.35501	0.860000	0.33809	0.005000	0.04900	2.721000	0.47260	1.451000	0.47736	-0.343000	0.07986	CGG		0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	Missense_Mutation	22	50	1	0	3.5997e-14	0.002299	5.34993e-14	22	50				
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54445373C>T	ENST00000391767.1	+	6	866	c.654C>T	c.(652-654)cgC>cgT	p.R218R	CACNG7_ENST00000222212.2_Silent_p.R218R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R218R(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTTCTACCGCCCGCGTCTCA	0.687																																							uc002qcr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(652-654)CGC>CGT		voltage-dependent calcium channel gamma-7							66.0	58.0	61.0					19																	54445373		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445373C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.654C>T	19.37:g.54445373C>T							p.R218R	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	669	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		218	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.654C>T	CCDS12868.1																																																																																				0.687	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			29	45	0	0	0	0.00632	0	29	45				
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55107393G>C	ENST00000251372.3	+	6	1133	c.951G>C	c.(949-951)ctG>ctC	p.L317L	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	317					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L317L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGACATCCTGATCGCAGGTG	0.682																																							uc002qgh.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(949-951)CTG>CTC		leukocyte immunoglobulin-like receptor,							21.0	30.0	27.0					19																	55107393		2192	4289	6481	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107393G>C	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.951G>C	19.37:g.55107393G>C						LILRA2_uc010yfg.1_Silent_p.L315L|LILRA1_uc010yfh.1_Silent_p.L317L	p.L317L	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1133	+			317			Extracellular (Potential).		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.951G>C	CCDS12901.1																																																																																				0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		20	68	0	0	0	0.00333	0	20	68				
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55693445A>T	ENST00000376350.3	-	19	3159	c.3137T>A	c.(3136-3138)cTt>cAt	p.L1046H	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.L868H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1046H(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAAGGGCCCAAGGAGACCCTC	0.607																																							uc002qjq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3136-3138)CTT>CAT		protein tyrosine phosphatase, receptor type, H							100.0	98.0	99.0					19																	55693445		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693445A>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3137T>A	19.37:g.55693445A>T	ENSP00000365528:p.Leu1046His					PTPRH_uc010esv.2_Missense_Mutation_p.L868H|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.L1046H	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3210	-		Renal(1328;0.245)	1046			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3137T>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037634	0.54896	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.13196	2.61;2.61	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.847094	0.09587	N	0.782033	T	0.27629	0.0679	L	0.41236	1.265	0.24066	N	0.995994	D;D	0.69078	0.997;0.997	P;P	0.60173	0.87;0.87	T	0.19549	-1.0302	10	0.87932	D	0	.	13.7744	0.63044	1.0:0.0:0.0:0.0	.	868;1046	C9JCH2;Q9HD43	.;PTPRH_HUMAN	H	1046;868	ENSP00000365528:L1046H;ENSP00000263434:L868H	ENSP00000263434:L868H	L	-	2	0	PTPRH	60385257	0.755000	0.28372	0.643000	0.29450	0.088000	0.18126	6.541000	0.73865	1.966000	0.57179	0.529000	0.55759	CTT		0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			63	181	0	0	0	0.00361	0	63	181				
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:56459349G>T	ENST00000291971.3	+	1	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W27C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512																																							uc002qmh.2		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|skin(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(79-81)TGG>TGT		NLR family, pyrin domain containing 8							189.0	147.0	161.0					19																	56459349		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459349G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.81G>T	19.37:g.56459349G>T	ENSP00000291971:p.Trp27Cys					NLRP8_uc010etg.2_Missense_Mutation_p.W27C	p.W27C	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	152	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	27					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.81G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	8.497	0.863304	0.17250	.	.	ENSG00000179709	ENST00000291971	T	0.73789	-0.78	2.05	-0.35	0.12606	.	.	.	.	.	T	0.66317	0.2777	N	0.08118	0	0.09310	N	1	D;D	0.71674	0.998;0.993	D;P	0.67103	0.949;0.89	T	0.55817	-0.8081	9	0.87932	D	0	.	4.3238	0.11031	0.0:0.2559:0.4824:0.2617	.	27;27	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	27	ENSP00000291971:W27C	ENSP00000291971:W27C	W	+	3	0	NLRP8	61151161	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.975000	0.40569	0.003000	0.14656	-0.426000	0.05927	TGG		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		24	129	1	0	3.08376e-08	0.00333	3.96675e-08	24	129				
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175089T>C	ENST00000537055.2	-	2	1709	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	493					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.Q515R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ATGCGTCCTCTGGTGTCGGAT	0.627																																							uc010ygo.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(1)	4						c.(1543-1545)CAG>CGG		zinc finger protein 835							132.0	145.0	141.0					19																	57175089		2202	4300	6502	SO:0001583	missense	90485							g.chr19:57175089T>C	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1478A>G	19.37:g.57175089T>C	ENSP00000444747:p.Gln493Arg					ZNF835_uc010ygn.1_Missense_Mutation_p.Q493R	p.Q515R	NM_001005850	NP_001005850					2	1544	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1544A>G	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708983	0.48517	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.35973	1.28	2.17	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1	B	0.24721	0.11	B	0.26864	0.074	T	0.19549	-1.0302	9	0.48119	T	0.1	.	8.2562	0.31758	0.0:0.0:0.0:1.0	.	515	Q9Y2P0	ZN835_HUMAN	R	515;493	ENSP00000444747:Q493R	ENSP00000341756:Q515R	Q	-	2	0	ZNF835	61866901	0.000000	0.05858	0.478000	0.27316	0.522000	0.34438	-0.844000	0.04345	1.242000	0.43836	0.459000	0.35465	CAG		0.627	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		63	246	0	0	0	0.00361	0	63	246				
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	C	T	rs537351450		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175250C>T	ENST00000537055.2	-	2	1548	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	439					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.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCCGTGTGCGTGCGCTGGT	0.662																																							uc010ygo.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(3)|skin(1)	4						c.(1381-1383)ACG>ACA		zinc finger protein 835							42.0	47.0	45.0					19																	57175250		2201	4298	6499	SO:0001819	synonymous_variant	90485							g.chr19:57175250C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1317G>A	19.37:g.57175250C>T						ZNF835_uc010ygn.1_Silent_p.T439T	p.T461T	NM_001005850	NP_001005850					2	1383	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1383G>A	CCDS56105.1																																																																																				0.662	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		17	92	0	0	0	0.004007	0	17	92				
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57641790C>A	ENST00000254181.4	+	4	2201	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	USP29_ENST00000598197.1_Missense_Mutation_p.L583M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L583M(2)		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)		ATCAATGAAGCTGACCTCAGA	0.483																																							uc002qny.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1747-1749)CTG>ATG		ubiquitin specific peptidase 29							77.0	77.0	77.0					19																	57641790		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.chr19:57641790C>A		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.1747C>A	19.37:g.57641790C>A	ENSP00000254181:p.Leu583Met						p.L583M	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2103	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	583						Missense_Mutation	SNP	ENST00000254181.4	37	c.1747C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898757	0.17686	.	.	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.28	-1.79	0.07932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.39809	0.1092	L	0.46157	1.445	0.09310	N	1	P	0.44195	0.828	P	0.47251	0.542	T	0.25745	-1.0123	9	0.32370	T	0.25	0.0037	3.2259	0.06731	0.0:0.3399:0.2472:0.4129	.	583	Q9HBJ7	UBP29_HUMAN	M	583	ENSP00000254181:L583M	ENSP00000254181:L583M	L	+	1	2	USP29	62333602	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.769000	0.04710	-0.526000	0.06383	-0.373000	0.07131	CTG		0.483	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			41	91	1	0	2.45108e-15	0.00874	3.74611e-15	41	91				
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57705360G>A	ENST00000263095.6	+	2	565	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF264_ENST00000600531.1_Missense_Mutation_p.V51M|ZNF264_ENST00000599653.1_Missense_Mutation_p.V51M|ZNF264_ENST00000536056.1_Missense_Mutation_p.V51M	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.V51M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TGGGCTCCTGGTGTCTCTGGG	0.587																																							uc002qob.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(151-153)GTG>ATG		zinc finger protein 264							110.0	112.0	111.0					19																	57705360		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57705360G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.151G>A	19.37:g.57705360G>A	ENSP00000263095:p.Val51Met						p.V51M	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	2	564	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	51			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.151G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.863973	0.17250	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.02369	4.32;4.32	2.56	-0.962	0.10333	Krueppel-associated box (4);	.	.	.	.	T	0.06416	0.0165	M	0.92923	3.36	0.09310	N	0.999997	B	0.32862	0.387	B	0.32342	0.144	T	0.18493	-1.0335	9	0.62326	D	0.03	.	3.5591	0.07875	0.222:0.0:0.4455:0.3325	.	51	O43296	ZN264_HUMAN	M	51	ENSP00000263095:V51M;ENSP00000440376:V51M	ENSP00000263095:V51M	V	+	1	0	ZNF264	62397172	0.002000	0.14202	0.091000	0.20842	0.747000	0.42532	-0.475000	0.06599	-0.120000	0.11809	-0.339000	0.08088	GTG		0.587	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			28	99	0	0	0	0.00632	0	28	99				
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:58579298C>A	ENST00000313434.5	+	5	1547	c.1446C>A	c.(1444-1446)acC>acA	p.T482T	ZNF135_ENST00000401053.4_Silent_p.T506T|ZNF135_ENST00000439855.2_Silent_p.T482T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.T494T|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Silent_p.T440T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	482					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.T506T(2)|p.T482T(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACACCTCACCCAACACCAGC	0.567																																							uc010yhq.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1480-1482)ACC>ACA		zinc finger protein 135 isoform 2							96.0	85.0	89.0					19																	58579298		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579298C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1446C>A	19.37:g.58579298C>A						ZNF135_uc002qre.2_Silent_p.T482T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T440T|ZNF135_uc002qrg.2_Silent_p.T452T|ZNF135_uc010yhr.1_Silent_p.T303T	p.T494T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1578	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	494					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.1482C>A		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.824624	0.00589	.	.	ENSG00000176293	ENST00000391699	.	.	.	2.65	-3.12	0.05282	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	3.1033	0.06333	0.3164:0.3244:0.0:0.3592	.	.	.	.	H	500	.	.	P	+	2	0	ZNF135	63271110	0.000000	0.05858	0.489000	0.27452	0.025000	0.11179	-3.967000	0.00323	-1.059000	0.03193	-0.350000	0.07774	CCC		0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		25	65	1	0	1.26454e-06	0.005443	1.55253e-06	25	65				
TRAPPC12	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:3447625T>C	ENST00000324266.5	+	6	1688	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L498P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	498					vesicle-mediated transport (GO:0016192)			p.L498P(2)									CAGGAGTCGCTGGATAGACTG	0.592																																							uc002qxm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|pancreas(1)	4						c.(1492-1494)CTG>CCG		tetratricopeptide repeat domain 15							120.0	98.0	105.0					2																	3447625		2202	4300	6502	SO:0001583	missense	51112						binding	g.chr2:3447625T>C	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1493T>C	2.37:g.3447625T>C	ENSP00000324318:p.Leu498Pro					TTC15_uc002qxn.1_Missense_Mutation_p.L498P|TTC15_uc010ewm.1_Missense_Mutation_p.L498P	p.L498P	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	6	1699	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	498					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1493T>C	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.90|17.90	3.500957|3.500957	0.64298|0.64298	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266|ENST00000441983	T;T|.	0.57752|.	0.38;0.38|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.079898|.	0.52532|.	D|.	0.000076|.	T|T	0.79724|0.79724	0.4495|0.4495	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.994|.	T|T	0.83123|0.83123	-0.0117|-0.0117	10|5	0.87932|.	D|.	0|.	.|.	13.6712|13.6712	0.62427|0.62427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	481;498|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	P|R	498;481;498|178	ENSP00000371544:L498P;ENSP00000324318:L498P|.	ENSP00000303612:L481P|.	L|W	+|+	2|1	0|0	TTC15|TTC15	3426632|3426632	1.000000|1.000000	0.71417|0.71417	0.735000|0.735000	0.30896|0.30896	0.491000|0.491000	0.33493|0.33493	6.439000|6.439000	0.73430|0.73430	2.113000|2.113000	0.64589|0.64589	0.477000|0.477000	0.44152|0.44152	CTG|TGG		0.592	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		12	32	0	0	0	0.001368	0	12	32				
APOB	338	broad.mit.edu	37	2	21228213	21228213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:21228213C>A	ENST00000233242.1	-	26	11654	c.11527G>T	c.(11527-11529)Gta>Tta	p.V3843L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3843					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V3843L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTGGCTACTGCATTTAGA	0.453																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11527-11529)GTA>TTA		apolipoprotein B precursor	Atorvastatin(DB01076)						153.0	137.0	142.0					2																	21228213		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228213C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11527G>T	2.37:g.21228213C>A	ENSP00000233242:p.Val3843Leu						p.V3843L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11655	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3843					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11527G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.258	-1.001836	0.02128	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00840	5.63	5.52	-0.683	0.11335	.	0.943509	0.08755	N	0.898511	T	0.00552	0.0018	N	0.16130	0.375	0.20563	N	0.999883	B	0.27765	0.188	B	0.25614	0.062	T	0.45101	-0.9284	10	0.10902	T	0.67	.	0.7811	0.01041	0.3354:0.2981:0.1091:0.2574	.	3843	P04114	APOB_HUMAN	L	3843	ENSP00000233242:V3843L	ENSP00000233242:V3843L	V	-	1	0	APOB	21081718	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.015000	0.13355	-0.476000	0.06842	-0.150000	0.13652	GTA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	156	1	0	0.00909568	0.009096	0.00973599	4	156				
KRTCAP3	200634	broad.mit.edu	37	2	27666044	27666044	+	Missense_Mutation	SNP	G	G	T	rs375247907		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:27666044G>T	ENST00000543753.1	+	4	424	c.377G>T	c.(376-378)cGc>cTc	p.R126L	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R108L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R126L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	126						integral component of membrane (GO:0016021)		p.R126L(2)		large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACGGTGGCCGCCGCCTTATT	0.607																																							uc002rks.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(376-378)CGC>CTC		keratinocyte associated protein 3							86.0	89.0	88.0					2																	27666044		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27666044G>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.377G>T	2.37:g.27666044G>T	ENSP00000442400:p.Arg126Leu					KRTCAP3_uc010ylr.1_Missense_Mutation_p.R126L|KRTCAP3_uc002rkt.2_Missense_Mutation_p.R108L	p.R126L	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN			4	394	+	Acute lymphoblastic leukemia(172;0.155)		126					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.377G>T	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155840	0.57259	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.49720	0.77;0.77;0.77	5.77	3.98	0.46160	.	0.477338	0.23481	N	0.047712	T	0.42040	0.1185	M	0.63843	1.955	0.27561	N	0.950195	B	0.18741	0.03	B	0.22753	0.041	T	0.46414	-0.9193	10	0.72032	D	0.01	-14.0568	4.7681	0.13142	0.2355:0.0:0.6134:0.151	.	126	Q53RY4	KCP3_HUMAN	L	126;126;108	ENSP00000442400:R126L;ENSP00000288873:R126L;ENSP00000384689:R108L	ENSP00000288873:R126L	R	+	2	0	KRTCAP3	27519548	0.000000	0.05858	0.994000	0.49952	0.902000	0.53008	0.085000	0.14912	0.789000	0.33779	-0.254000	0.11334	CGC		0.607	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		85	161	1	0	1.09326e-46	0.00361	2.0323e-46	85	161				
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:29551229C>A	ENST00000389048.3	-	6	2307	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	467	LDL-receptor class A.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E467D(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ACATCTGGCTCTCATCTTCTC	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1399-1401)GAG>GAT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						83.0	71.0	75.0					2																	29551229		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551229C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1401G>T	2.37:g.29551229C>A	ENSP00000373700:p.Glu467Asp						p.E467D	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			6	2308	-	Acute lymphoblastic leukemia(172;0.155)		467			LDL-receptor class A.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1401G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.368663	0.61624	.	.	ENSG00000171094	ENST00000389048	D	0.98437	-4.93	5.27	2.16	0.27623	.	0.000000	0.48286	U	0.000192	D	0.96352	0.8810	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	P	0.53401	0.725	D	0.93359	0.6725	9	.	.	.	.	6.7612	0.23542	0.0:0.6792:0.0:0.3208	.	467	Q9UM73	ALK_HUMAN	D	467	ENSP00000373700:E467D	.	E	-	3	2	ALK	29404733	0.799000	0.28903	1.000000	0.80357	0.790000	0.44656	-0.390000	0.07332	0.479000	0.27511	0.450000	0.29827	GAG		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		27	71	1	0	6.38683e-12	0.008361	8.97486e-12	27	71				
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:37000953C>T	ENST00000389975.3	+	8	1001	c.699C>T	c.(697-699)acC>acT	p.T233T	VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T233T|VIT_ENST00000379242.3_Silent_p.T233T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Silent_p.T233T	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	233					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.T233T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACTGCCACCTACACAAGCA	0.403																																							uc002rpl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(697-699)ACC>ACT		vitrin							90.0	79.0	83.0					2																	37000953		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37000953C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.699C>T	2.37:g.37000953C>T						VIT_uc010ynf.1_Silent_p.T162T|VIT_uc002rpm.2_Silent_p.T226T|VIT_uc010ezv.2_Silent_p.T226T|VIT_uc010ezw.2_Silent_p.T226T	p.T233T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			8	920	+		all_hematologic(82;0.248)	233					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.699C>T	CCDS54347.1																																																																																				0.403	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				9	30	0	0	0	0.008291	0	9	30				
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:47607038G>T	ENST00000263735.4	+	7	1146	c.788G>T	c.(787-789)gGt>gTt	p.G263V	MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_Missense_Mutation_p.G291V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	263					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.G263V(2)|p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCAATGCAGGGTCTAAAAgct	0.378																																							uc002rvx.2		NA																	5	Substitution - Missense(2)|Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(2)	skin(1)	1						c.(787-789)GGT>GTT		epithelial cell adhesion molecule precursor							117.0	110.0	112.0					2																	47607038		2203	4300	6503	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47607038G>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.788G>T	2.37:g.47607038G>T	ENSP00000263735:p.Gly263Val					EPCAM_uc002rvw.2_Missense_Mutation_p.G291V	p.G263V	NM_002354	NP_002345	P16422	EPCAM_HUMAN			7	1146	+			263			Extracellular (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.788G>T	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507768	0.64410	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.71934	-0.61;-0.59	5.66	5.66	0.87406	.	0.414875	0.31010	N	0.008436	T	0.76176	0.3951	M	0.63428	1.95	0.51012	D	0.999909	D;D	0.64830	0.994;0.994	P;P	0.56278	0.737;0.795	T	0.76814	-0.2820	10	0.51188	T	0.08	-24.3142	9.7783	0.40632	0.0757:0.1521:0.7722:0.0	.	263;291	P16422;B5MCA4	EPCAM_HUMAN;.	V	291;263	ENSP00000385476:G291V;ENSP00000263735:G263V	ENSP00000263735:G263V	G	+	2	0	EPCAM	47460542	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.641000	0.46587	2.671000	0.90904	0.555000	0.69702	GGT		0.378	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			21	64	1	0	6.33239e-15	0.010504	9.57935e-15	21	64				
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:54045035G>A	ENST00000185150.4	+	14	1512	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Splice_Site_p.V407I|ERLEC1_ENST00000405123.3_Splice_Site_p.V435I|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	461					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.V461I(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCTTTAGGTTGAATCTCC	0.338																																							uc002rxl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1381-1383)GTT>ATT		erlectin isoform 1							136.0	134.0	134.0					2																	54045035		2203	4299	6502	SO:0001630	splice_region_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54045035G>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1381-1G>A	2.37:g.54045035G>A						ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.V435I|ERLEC1_uc002rxn.2_Missense_Mutation_p.V407I	p.V461I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			14	1661	+			461					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.1381G>A	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212325	0.79240	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T;T	0.03524	3.9;3.9;3.9	5.99	5.99	0.97316	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	.	.	.	0.39637	D	0.970262	D;P;D	0.58268	0.982;0.735;0.982	P;B;P	0.57244	0.816;0.316;0.769	T	0.00228	-1.1899	8	.	.	.	-14.5994	18.6582	0.91462	0.0:0.0:1.0:0.0	.	407;435;461	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	I	435;461;407	ENSP00000385629:V435I;ENSP00000185150:V461I;ENSP00000367485:V407I	.	V	+	1	0	ERLEC1	53898539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.840000	0.97914	0.655000	0.94253	GTT		0.338	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	Missense_Mutation	9	48	0	0	0	0.004482	0	9	48				
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	C	A	rs370944597		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:69098254C>A	ENST00000295379.1	-	1	395	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	79					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.V79V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGGTGGGTCCACCTTGGCTG	0.468																																							uc002sez.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(235-237)GTG>GTT		bone morphogenetic protein 10 preproprotein							172.0	162.0	165.0					2																	69098254		2203	4300	6503	SO:0001819	synonymous_variant	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69098254C>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.237G>T	2.37:g.69098254C>A							p.V79V	NM_014482	NP_055297	O95393	BMP10_HUMAN			1	396	-			79					Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	c.237G>T	CCDS1890.1																																																																																				0.468	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		39	124	1	0	3.62531e-18	0.004289	5.79463e-18	39	124				
TEX261	113419	broad.mit.edu	37	2	71216145	71216145	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:71216145G>A	ENST00000272438.4	-	5	562	c.375C>T	c.(373-375)gtC>gtT	p.V125V	AC007040.11_ENST00000606025.1_Silent_p.V125V|TEX261_ENST00000466731.1_5'UTR	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	125						integral component of membrane (GO:0016021)		p.V125V(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AATAGGCCAGGACCTGGCAAC	0.577																																							uc002shn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)GTC>GTT		testis expressed sequence 261							36.0	32.0	33.0					2																	71216145		2203	4300	6503	SO:0001819	synonymous_variant	113419					integral to membrane		g.chr2:71216145G>A	AL832385	CCDS1914.1	2p13.3	2013-09-24	2007-03-13		ENSG00000144043	ENSG00000144043			30712	protein-coding gene	gene with protein product			"""testis expressed sequence 261"""			9464256	Standard	NM_144582		Approved	MGC32043, TEG-261	uc002shn.3	Q6UWH6	OTTHUMG00000129708	ENST00000272438.4:c.375C>T	2.37:g.71216145G>A						TEX261_uc010fdy.2_Silent_p.V78V	p.V125V	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN			5	489	-			125			Helical; (Potential).		A1A587|D6W5G9|Q8WUJ5	Silent	SNP	ENST00000272438.4	37	c.375C>T	CCDS1914.1																																																																																				0.577	TEX261-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251916.1	NM_144582		5	32	0	0	0	0.000602	0	5	32				
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:101093867T>A	ENST00000376865.1	+	5	259	c.252T>A	c.(250-252)gtT>gtA	p.V84V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	84					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.V84V(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACATCCAGTTAAAACTGGGG	0.368																																							uc002tan.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(250-252)GTT>GTA		neuromedin S precursor							78.0	74.0	75.0					2																	101093867		2203	4300	6503	SO:0001819	synonymous_variant	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101093867T>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.252T>A	2.37:g.101093867T>A							p.V84V	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			5	259	+			84						Silent	SNP	ENST00000376865.1	37	c.252T>A	CCDS33259.1																																																																																				0.368	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		13	32	0	0	0	0.001855	0	13	32				
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:102964544T>A	ENST00000233954.1	+	9	1381	c.1110T>A	c.(1108-1110)acT>acA	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383																																							uc002tbu.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1108-1110)ACT>ACA		interleukin 1 receptor-like 1 isoform 1							120.0	112.0	115.0					2																	102964544		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102964544T>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1110T>A	2.37:g.102964544T>A						IL18R1_uc002tbw.3_Intron	p.T370T	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			9	1381	+			370			Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1110T>A	CCDS2057.1																																																																																				0.383	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		19	61	0	0	0	0.001882	0	19	61				
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:141665515G>T	ENST00000389484.3	-	22	4422	c.3451C>A	c.(3451-3453)Ctg>Atg	p.L1151M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1151	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1151M(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGCTGCAGGCAGACTGAG	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3451-3453)CTG>ATG		low density lipoprotein-related protein 1B							180.0	166.0	170.0					2																	141665515		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665515G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3451C>A	2.37:g.141665515G>T	ENSP00000374135:p.Leu1151Met	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.L333M	p.L1151M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4423	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1151			Extracellular (Potential).|LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3451C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946183	0.73672	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99176	-5.52;-3.92	5.58	2.76	0.32466	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.098696	0.42964	D	0.000635	D	0.99187	0.9718	M	0.86953	2.85	0.46564	D	0.9991	P;D	0.76494	0.955;0.999	P;D	0.85130	0.817;0.997	D	0.99643	1.0989	10	0.87932	D	0	.	11.0113	0.47665	0.2063:0.0:0.7937:0.0	.	334;1151	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	M	1151;1089;296	ENSP00000374135:L1151M;ENSP00000413239:L296M	ENSP00000374135:L1151M	L	-	1	2	LRP1B	141381985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.809000	0.62591	0.718000	0.32166	0.585000	0.79938	CTG		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	66	1	0	1.66031e-10	0.003954	2.24274e-10	25	66				
PABPC1P2	728773	broad.mit.edu	37	2	147345742	147345742	+	IGR	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:147345742G>T								RNU7-2P (442957 upstream) : AC103881.1 (249574 downstream)														p.A68S(2)									TCCACAGACAGCTATGGATGT	0.388																																							uc002twf.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(202-204)GCT>TCT		RecName: Full=Putative protein PABPC1-like; AltName: Full=Polyadenylate-binding protein pseudogene 2;																																				SO:0001628	intergenic_variant	728773							g.chr2:147345742G>T																													2.37:g.147345742G>T							p.A68S	NR_026904						1	1118	+									Missense_Mutation	SNP		37	c.202G>T																																																																																				0	0.388									12	34	1	0	4.36969e-10	0.001855	5.84927e-10	12	34				
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:158980311T>A	ENST00000005756.4	+	6	909	c.715T>A	c.(715-717)Tta>Ata	p.L239I	UPP2_ENST00000409859.4_Missense_Mutation_p.L296I|UPP2_ENST00000605860.1_Missense_Mutation_p.L296I|UPP2_ENST00000460456.1_3'UTR	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	239					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.L239I(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AGAAAAAAAGTTAGACTACTT	0.453																																							uc002tzp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(715-717)TTA>ATA		uridine phosphorylase 2 isoform a							100.0	99.0	99.0					2																	158980311		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158980311T>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.715T>A	2.37:g.158980311T>A	ENSP00000005756:p.Leu239Ile					UPP2_uc002tzo.2_Missense_Mutation_p.L296I	p.L239I	NM_173355	NP_775491	O95045	UPP2_HUMAN			6	909	+			239					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.715T>A	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262136	0.23051	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.86769	-2.17;-2.17	4.65	0.35	0.16037	Nucleoside phosphorylase domain (1);	0.338429	0.27744	N	0.018024	D	0.83459	0.5259	L	0.58969	1.84	0.33237	D	0.556713	B	0.29716	0.255	B	0.38954	0.286	T	0.79507	-0.1775	10	0.46703	T	0.11	.	5.149	0.15000	0.0:0.2567:0.1705:0.5728	.	239	O95045	UPP2_HUMAN	I	296;239	ENSP00000387230:L296I;ENSP00000005756:L239I	ENSP00000005756:L239I	L	+	1	2	UPP2	158688557	0.923000	0.31300	0.169000	0.22859	0.009000	0.06853	0.107000	0.15375	0.161000	0.19458	0.450000	0.29827	TTA		0.453	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		40	82	0	0	0	0.005524	0	40	82				
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179398197A>G	ENST00000591111.1	-	308	98446	c.98222T>C	c.(98221-98223)tTt>tCt	p.F32741S	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25317S|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F25442S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F34382S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F25509S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31814S|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32741	Ig-like 145.				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.F25317S(2)|p.F25509S(2)|p.F31814S(2)|p.F31812S(2)|p.F25442S(2)		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)			TCTGATCTCAAAGCAGACACT	0.473																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(95440-95442)TTT>TCT		titin isoform N2-A							69.0	66.0	67.0					2																	179398197		1958	4144	6102	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398197A>G	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.98222T>C	2.37:g.179398197A>G	ENSP00000465570:p.Phe32741Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F25509S|TTN_uc010zfi.1_Missense_Mutation_p.F25442S|TTN_uc010zfj.1_Missense_Mutation_p.F25317S	p.F31814S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	95665	-			32741					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.95441T>C		.	.	.	.	.	.	.	.	.	.	A	18.79	3.697923	0.68386	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.89336	0.6686	H	0.96805	3.885	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72338	0.958;0.958;0.958;0.977	D	0.92821	0.6272	9	0.87932	D	0	.	15.6844	0.77396	1.0:0.0:0.0:0.0	.	25317;25442;25509;32741	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	31814;25317;25509;25442;25314	ENSP00000343764:F31814S;ENSP00000434586:F25317S;ENSP00000340554:F25509S;ENSP00000352154:F25442S	ENSP00000340554:F25509S	F	-	2	0	TTN	179106443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.309000	0.96252	2.189000	0.69895	0.459000	0.35465	TTT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	35	0	0	0	0.008871	0	19	35				
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179629388C>A	ENST00000591111.1	-	42	10078	c.9854G>T	c.(9853-9855)tGc>tTc	p.C3285F	TTN_ENST00000360870.5_Missense_Mutation_p.C3285F|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C3239F|TTN_ENST00000359218.5_Missense_Mutation_p.C3239F|TTN_ENST00000589042.1_Missense_Mutation_p.C3285F|TTN_ENST00000342175.6_Missense_Mutation_p.C3239F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C3285F			Q8WZ42	TITIN_HUMAN	titin	13612	Ig-like 19.				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.C3285F(6)|p.C3239F(6)		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)			AAGAAATTTGCACTTGAAGCC	0.493																																							uc010zfg.1		NA																	12	Substitution - Missense(12)		lung(12)	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.(9853-9855)TGC>TTC		titin isoform N2-A							118.0	117.0	117.0					2																	179629388		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629388C>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.9854G>T	2.37:g.179629388C>A	ENSP00000465570:p.Cys3285Phe					TTN_uc010zfh.1_Missense_Mutation_p.C3239F|TTN_uc010zfi.1_Missense_Mutation_p.C3239F|TTN_uc010zfj.1_Missense_Mutation_p.C3239F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.C3285F	p.C3285F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10078	-			3285					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.9854G>T		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371137	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57844	0.2081	N	0.03084	-0.415	0.34527	D	0.708817	P;P;P;P;D	0.63880	0.934;0.934;0.934;0.934;0.993	P;P;P;P;P	0.62298	0.837;0.837;0.837;0.837;0.9	T	0.73072	-0.4098	9	0.87932	D	0	.	15.4278	0.75069	0.1395:0.8605:0.0:0.0	.	3239;3239;3239;3285;3285	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	3285;3239;3239;3239;3239;3285	ENSP00000343764:C3285F;ENSP00000434586:C3239F;ENSP00000340554:C3239F;ENSP00000352154:C3239F;ENSP00000354117:C3285F	ENSP00000340554:C3239F	C	-	2	0	TTN	179337633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.797000	0.62503	2.683000	0.91414	0.655000	0.94253	TGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	103	1	0	2.89935e-36	0.00361	5.24182e-36	62	103				
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179642042C>A	ENST00000591111.1	-	27	4872	c.4648G>T	c.(4648-4650)Gtg>Ttg	p.V1550L	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1550L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V1504L|TTN_ENST00000359218.5_Missense_Mutation_p.V1504L|TTN_ENST00000589042.1_Missense_Mutation_p.V1550L|TTN_ENST00000342175.6_Missense_Mutation_p.V1504L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V1550L|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12411					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.V1504L(6)|p.V1550L(6)		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)			TGATGTTCCACAGCTGAAAGA	0.348																																							uc010zfg.1		NA																	12	Substitution - Missense(12)		lung(12)	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.(4648-4650)GTG>TTG		titin isoform N2-A							74.0	72.0	73.0					2																	179642042		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642042C>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.4648G>T	2.37:g.179642042C>A	ENSP00000465570:p.Val1550Leu					TTN_uc010zfh.1_Missense_Mutation_p.V1504L|TTN_uc010zfi.1_Missense_Mutation_p.V1504L|TTN_uc010zfj.1_Missense_Mutation_p.V1504L|TTN_uc002unb.2_Missense_Mutation_p.V1550L|uc002unc.1_RNA	p.V1550L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	4872	-			1550					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.4648G>T		.	.	.	.	.	.	.	.	.	.	C	11.14	1.550629	0.27739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62364	0.03;0.23;0.21;0.2;0.29	5.9	5.9	0.94986	Ribonuclease H-like (1);	.	.	.	.	T	0.49184	0.1542	N	0.25485	0.75	0.21782	N	0.999549	B;B;B;B;B	0.27068	0.006;0.006;0.006;0.002;0.167	B;B;B;B;B	0.28011	0.006;0.006;0.006;0.006;0.085	T	0.44065	-0.9352	9	0.87932	D	0	.	7.7516	0.28901	0.0:0.8096:0.0:0.1904	.	1504;1504;1504;1550;1550	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1550;1504;1504;1504;1504;1550	ENSP00000343764:V1550L;ENSP00000434586:V1504L;ENSP00000340554:V1504L;ENSP00000352154:V1504L;ENSP00000354117:V1550L	ENSP00000340554:V1504L	V	-	1	0	TTN	179350287	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.640000	0.46579	2.804000	0.96469	0.650000	0.86243	GTG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	37	1	0	1.55795e-14	0.001882	2.32711e-14	21	37				
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	T	rs140646380	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:189875383G>T	ENST00000304636.3	+	50	4191	c.4021G>T	c.(4021-4023)Ggc>Tgc	p.G1341C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTTTAGCTACGGCAATCCTGA	0.408																																							uc002uqj.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4021-4023)GGC>TGC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						109.0	105.0	107.0					2																	189875383		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189875383G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4021G>T	2.37:g.189875383G>T	ENSP00000304408:p.Gly1341Cys						p.G1341C	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		50	4138	+			1341			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4021G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006074	0.74932	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73789	-0.78;-0.78	5.5	5.5	0.81552	Fibrillar collagen, C-terminal (3);	0.000000	0.52532	D	0.000068	D	0.89329	0.6684	M	0.90082	3.085	0.46586	D	0.999116	D	0.89917	1.0	D	0.87578	0.998	D	0.90969	0.4818	10	0.72032	D	0.01	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	1341	P02461	CO3A1_HUMAN	C	1341;1038	ENSP00000304408:G1341C;ENSP00000315243:G1038C	ENSP00000304408:G1341C	G	+	1	0	COL3A1	189583628	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.869000	0.99810	2.591000	0.87537	0.655000	0.94253	GGC		0.408	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		37	60	1	0	1.15505e-17	0.009718	1.83631e-17	37	60				
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:191841713C>T	ENST00000361099.3	-	22	2299	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT1_ENST00000392322.3_Missense_Mutation_p.E638K|STAT1_ENST00000392323.2_Missense_Mutation_p.E640K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.E638K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	638	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.E638K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GCAGAAAGTTCTTTCTTCGTG	0.398																																							uc002usj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1912-1914)GAA>AAA		signal transducer and activator of transcription	Fludarabine(DB01073)						117.0	110.0	112.0					2																	191841713		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191841713C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1912G>A	2.37:g.191841713C>T	ENSP00000354394:p.Glu638Lys					STAT1_uc010fse.1_Missense_Mutation_p.E638K|STAT1_uc002usk.2_Missense_Mutation_p.E638K|STAT1_uc002usl.2_Missense_Mutation_p.E640K	p.E638K	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		22	2300	-			638			SH2.		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1912G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913711	0.52439	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.47	4.59	0.56863	SH2 motif (4);	0.131490	0.64402	D	0.000002	D	0.83622	0.5294	L	0.38838	1.175	0.80722	D	1	B;B	0.32203	0.36;0.097	B;B	0.29440	0.102;0.101	T	0.83255	-0.0051	10	0.54805	T	0.06	-27.7356	14.4124	0.67124	0.0:0.9295:0.0:0.0705	.	638;638	P42224-2;P42224	.;STAT1_HUMAN	K	638;638;638;640	ENSP00000354394:E638K;ENSP00000386244:E638K;ENSP00000376136:E638K;ENSP00000376137:E640K	ENSP00000354394:E638K	E	-	1	0	STAT1	191549958	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	2.937000	0.48979	1.551000	0.49450	-0.140000	0.14226	GAA		0.398	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		15	129	0	0	0	0.004007	0	15	129				
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:192257838G>T	ENST00000392318.3	+	20	2363	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y	MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D706Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D706Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	706	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D706Y(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACGCCTGGAGGACTTGGCCAC	0.428																																							uc010fsg.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(2116-2118)GAC>TAC		myosin IB isoform 1							85.0	85.0	85.0					2																	192257838		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192257838G>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2116G>T	2.37:g.192257838G>T	ENSP00000376132:p.Asp706Tyr					MYO1B_uc002usq.2_Missense_Mutation_p.D706Y|MYO1B_uc002usr.2_Missense_Mutation_p.D706Y|MYO1B_uc002usu.2_5'UTR	p.D706Y	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		20	2371	+			706			IQ 1.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2116G>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495947	0.85069	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	L	0.56340	1.77	0.80722	D	1	D;D	0.64830	0.994;0.992	D;D	0.72075	0.976;0.946	T	0.81364	-0.0966	10	0.52906	T	0.07	.	19.8639	0.96797	0.0:0.0:1.0:0.0	.	706;706	O43795;O43795-2	MYO1B_HUMAN;.	Y	706	ENSP00000341903:D706Y;ENSP00000376132:D706Y;ENSP00000306382:D706Y;ENSP00000376130:D706Y	ENSP00000306382:D706Y	D	+	1	0	MYO1B	191966083	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.664000	0.83830	2.772000	0.95346	0.650000	0.86243	GAC		0.428	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		7	70	1	0	2.0095e-06	0.001984	2.41221e-06	7	70				
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:198950213G>C	ENST00000428675.1	+	2	2370	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D560H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	658	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D560H(2)|p.D658H(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATCCACAGGACTTTTGGAA	0.413																																							uc010fsp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(1972-1974)GAC>CAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						43.0	46.0	45.0					2																	198950213		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950213G>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1972G>C	2.37:g.198950213G>C	ENSP00000402861:p.Asp658His					PLCL1_uc002uuv.3_Missense_Mutation_p.D579H	p.D658H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2263	+			658			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1972G>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376974	0.61735	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.52526	0.66;0.66	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.163812	0.43110	D	0.000608	T	0.70072	0.3182	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68953	-0.5273	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	658;584	Q15111;B4DYZ4	PLCL1_HUMAN;.	H	658;560	ENSP00000402861:D658H;ENSP00000414138:D560H	.	D	+	1	0	PLCL1	198658458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	GAC		0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		6	61	0	0	0	0.000978	0	6	61				
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:201533401C>A	ENST00000374700.2	+	33	3914	c.3673C>A	c.(3673-3675)Cag>Aag	p.Q1225K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1225					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.Q1225K(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATTCTCCCCAGGGCATTCT	0.433																																							uc002uvx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)|skin(1)	6						c.(3673-3675)CAG>AAG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						147.0	146.0	147.0					2																	201533401		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201533401C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3673C>A	2.37:g.201533401C>A	ENSP00000363832:p.Gln1225Lys					AOX1_uc010zhf.1_Missense_Mutation_p.Q781K|AOX1_uc010fsu.2_Missense_Mutation_p.Q591K	p.Q1225K	NM_001159	NP_001150	Q06278	ADO_HUMAN			33	3774	+			1225					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3673C>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016426	0.19355	.	.	ENSG00000138356	ENST00000374700;ENST00000439380	T;T	0.40756	1.02;1.22	5.1	2.17	0.27698	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.476036	0.23510	N	0.047410	T	0.17789	0.0427	N	0.05608	-0.01	0.29683	N	0.841513	B	0.02656	0.0	B	0.06405	0.002	T	0.06232	-1.0838	10	0.33940	T	0.23	-26.9015	2.9234	0.05777	0.2391:0.4466:0.2242:0.0901	.	1225	Q06278	ADO_HUMAN	K	1225;65	ENSP00000363832:Q1225K;ENSP00000413326:Q65K	ENSP00000363832:Q1225K	Q	+	1	0	AOX1	201241646	0.002000	0.14202	1.000000	0.80357	0.753000	0.42808	0.173000	0.16724	0.733000	0.32492	0.563000	0.77884	CAG		0.433	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		67	127	1	0	5.05157e-50	0.00361	9.44978e-50	67	127				
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:202436667A>G	ENST00000286195.3	-	8	874	c.830T>C	c.(829-831)gTg>gCg	p.V277A	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V277A	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	277								p.V277A(6)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CACTTACGTCACGGGATCTGT	0.348																																							uc002uye.2		NA																	6	Substitution - Missense(6)		lung(6)	large_intestine(1)|ovary(1)|skin(1)	3						c.(829-831)GTG>GCG		amyotrophic lateral sclerosis 2 (juvenile)							123.0	116.0	118.0					2																	202436667		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202436667A>G	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.830T>C	2.37:g.202436667A>G	ENSP00000286195:p.Val277Ala					ALS2CR11_uc002uyf.2_Missense_Mutation_p.V277A|ALS2CR11_uc010fti.2_Missense_Mutation_p.V277A	p.V277A	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			8	878	-			277					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.830T>C	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537048	0.45176	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.49	0.192	0.15134	.	1.597550	0.03605	N	0.234051	T	0.36054	0.0953	L	0.53249	1.67	0.09310	N	1	P;B;P	0.42871	0.557;0.122;0.792	B;B;B	0.37601	0.167;0.023;0.254	T	0.25152	-1.0140	10	0.56958	D	0.05	.	3.5062	0.07691	0.5637:0.0:0.157:0.2793	.	277;277;277	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	A	277	ENSP00000286195:V277A;ENSP00000400672:V277A;ENSP00000409937:V277A;ENSP00000399016:V277A	ENSP00000286195:V277A	V	-	2	0	ALS2CR11	202144912	0.002000	0.14202	0.006000	0.13384	0.746000	0.42486	0.654000	0.24918	-0.199000	0.10317	-0.326000	0.08463	GTG		0.348	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		20	37	0	0	0	0.002299	0	20	37				
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:207003266C>A	ENST00000233190.6	-	13	1601	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	NDUFS1_ENST00000432169.1_Silent_p.L334L|NDUFS1_ENST00000457011.1_Silent_p.L329L|NDUFS1_ENST00000455934.2_Silent_p.L459L|NDUFS1_ENST00000449699.1_Silent_p.L445L|NDUFS1_ENST00000423725.1_Silent_p.L388L|NDUFS1_ENST00000440274.1_Silent_p.L409L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	445					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L445L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGAGTCTCCCAGGTGGTCAT	0.408																																							uc002vbe.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1333-1335)CTG>CTT		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						101.0	102.0	101.0					2																	207003266		2203	4300	6503	SO:0001819	synonymous_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207003266C>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1335G>T	2.37:g.207003266C>A						NDUFS1_uc010ziq.1_Silent_p.L459L|NDUFS1_uc010zir.1_Silent_p.L409L|NDUFS1_uc010zis.1_Silent_p.L388L|NDUFS1_uc010zit.1_Silent_p.L334L|NDUFS1_uc010ziu.1_Silent_p.L329L	p.L445L	NM_005006	NP_004997	P28331	NDUS1_HUMAN			13	1462	-			445					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	c.1335G>T	CCDS2366.1																																																																																				0.408	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		18	110	1	0	8.00594e-06	0.007413	9.43841e-06	18	110				
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:212578346C>A	ENST00000342788.4	-	8	1221	c.911G>T	c.(910-912)tGt>tTt	p.C304F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C304F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C304F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	304	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C304F(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGCACGCACACAAGAACTGGA	0.358										TSP Lung(8;0.080)																													uc002veg.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(910-912)TGT>TTT		v-erb-a erythroblastic leukemia viral oncogene							104.0	99.0	100.0					2																	212578346		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212578346C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.911G>T	2.37:g.212578346C>A	ENSP00000342235:p.Cys304Phe	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.C304F|ERBB4_uc010zji.1_Missense_Mutation_p.C304F|ERBB4_uc010zjj.1_Missense_Mutation_p.C304F|ERBB4_uc010fut.1_Missense_Mutation_p.C304F	p.C304F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	8	1009	-		Renal(323;0.06)|Lung NSC(271;0.197)	304			Cys-rich.|Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.911G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.533258|4.533258	0.85812|0.85812	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.93189|.	-3.18;-3.18;-3.18|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88418|0.88418	0.6431|0.6431	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.91628|0.91628	0.5316|0.5316	10|5	0.87932|.	D|.	0|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	304;304;163;304;304|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	F|L	304|304	ENSP00000342235:C304F;ENSP00000403204:C304F;ENSP00000385565:C304F|.	ENSP00000342235:C304F|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212286591|212286591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		17	20	1	0	9.7654e-05	0.007413	0.000109884	17	20				
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:219846816T>A	ENST00000295727.1	-	3	871	c.290A>T	c.(289-291)aAc>aTc	p.N97I	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.N97I(2)	EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTCGTAGTTCATGTTGGG	0.642			T	"""EWSR1,  FUS"""	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)	NSCLC(198;941 2228 4658 24163 34665)	uc002vji.1		NA		Dom	yes		2	2q36	54738	T	FEV protein - (HSRNAFEV)			M	EWSR1| FUS		Ewing sarcoma	EWSR1/FEV(10)|FUS/FEV(2)	2	Substitution - Missense(2)		lung(2)	bone(10)|soft_tissue(2)	12						c.(289-291)AAC>ATC		FEV (ETS oncogene family)							100.0	69.0	79.0					2																	219846816		2203	4300	6503	SO:0001583	missense	54738				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:219846816T>A		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.290A>T	2.37:g.219846816T>A	ENSP00000295727:p.Asn97Ile						p.N97I	NM_017521	NP_059991	Q99581	FEV_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	872	-		Renal(207;0.0474)	97			ETS.			Missense_Mutation	SNP	ENST00000295727.1	37	c.290A>T	CCDS2428.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348591	0.82132	.	.	ENSG00000163497	ENST00000295727	T	0.60920	0.15	3.11	3.11	0.35812	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	U	0.000000	T	0.81735	0.4885	H	0.96662	3.86	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	D	0.85578	0.1238	10	0.87932	D	0	.	10.4441	0.44483	0.0:0.0:0.0:1.0	.	97	Q99581	FEV_HUMAN	I	97	ENSP00000295727:N97I	ENSP00000295727:N97I	N	-	2	0	FEV	219555060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.632000	0.83247	1.288000	0.44600	0.379000	0.24179	AAC		0.642	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			23	28	0	0	0	0.002299	0	23	28				
NCL	4691	broad.mit.edu	37	2	232326670	232326670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:232326670A>G	ENST00000322723.4	-	3	434	c.194T>C	c.(193-195)gTc>gCc	p.V65A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	65	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.V65A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGGGAAACGACCACCTTCTT	0.493																																							uc002vru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(193-195)GTC>GCC		nucleolin							165.0	168.0	167.0					2																	232326670		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326670A>G		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.194T>C	2.37:g.232326670A>G	ENSP00000318195:p.Val65Ala					SNORD82_uc010fxw.1_5'Flank	p.V65A	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	335	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	65			1.|8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.194T>C	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701645	0.30142	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.21932	3.18;3.24;3.24;3.24;1.98	5.27	3.9	0.45041	.	0.528156	0.20405	N	0.092978	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.10902	T	0.67	-6.8781	6.5269	0.22307	0.8092:0.0:0.1907:0.0	.	65	P19338	NUCL_HUMAN	A	65;65;49;49;49;49	ENSP00000318195:V65A;ENSP00000401620:V49A;ENSP00000392747:V49A;ENSP00000413775:V49A;ENSP00000401322:V49A	ENSP00000318195:V65A	V	-	2	0	NCL	232034914	0.011000	0.17503	0.134000	0.22075	0.634000	0.38068	1.220000	0.32491	2.000000	0.58554	0.529000	0.55759	GTC		0.493	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	312	0	0	0	0.00308	0	8	312				
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:239040032G>T	ENST00000343063.3	+	9	2940	c.2677G>T	c.(2677-2679)Ggc>Tgc	p.G893C	ESPNL_ENST00000409506.1_Missense_Mutation_p.G525C|ESPNL_ENST00000409169.1_Missense_Mutation_p.G849C|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	893								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGCACCCACGGCTGGGAGGC	0.697																																							uc002vxq.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2677-2679)GGC>TGC		espin-like							12.0	12.0	12.0					2																	239040032		2175	4271	6446	SO:0001583	missense	339768							g.chr2:239040032G>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2677G>T	2.37:g.239040032G>T	ENSP00000339115:p.Gly893Cys					ESPNL_uc010fyw.2_Missense_Mutation_p.G589C	p.G893C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	2787	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	893					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2677G>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971646	0.53614	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.64260	-0.09;1.02;0.6	4.72	2.87	0.33458	.	0.284811	0.30302	N	0.009929	T	0.69931	0.3166	L	0.59436	1.845	0.29336	N	0.866323	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	T	0.61987	-0.6949	10	0.51188	T	0.08	-35.2273	6.868	0.24104	0.1485:0.1614:0.6901:0.0	.	849;893	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	C	893;849;525	ENSP00000339115:G893C;ENSP00000386577:G849C;ENSP00000386579:G525C	ENSP00000339115:G893C	G	+	1	0	ESPNL	238704771	0.006000	0.16342	1.000000	0.80357	0.735000	0.41995	0.120000	0.15647	2.176000	0.68965	0.460000	0.39030	GGC		0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		10	8	1	0	3.07112e-06	0.000978	3.64235e-06	10	8				
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:2597907G>A	ENST00000358864.1	+	16	2145	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	710					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.V710V(2)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTGCCGGTGGCCTACACCA	0.622																																							uc002wgf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2128-2130)GTG>GTA		transmembrane cochlear-expressed protein 2							124.0	83.0	97.0					20																	2597907		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2597907G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2130G>A	20.37:g.2597907G>A						TMC2_uc002wgg.1_Silent_p.V694V	p.V710V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			16	2145	+			710			Helical; (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.2130G>A	CCDS13029.2																																																																																				0.622	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			15	44	0	0	0	0.00333	0	15	44				
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3052311C>A	ENST00000217386.2	+	1	46	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	4					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)		p.P4T(2)		lung(2)	2					Oxytocin(DB00107)	CATGGCCGGCCCCAGCCTCGC	0.692																																							uc002wht.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(10-12)CCC>ACC		oxytocin-neurophysin I preproprotein	Oxytocin(DB00107)						16.0	15.0	15.0					20																	3052311		2175	4278	6453	SO:0001583	missense	5020				signal transduction		neurohypophyseal hormone activity	g.chr20:3052311C>A		CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"""Endogenous ligands"""	8528	protein-coding gene	gene with protein product	"""oxytocin"", ""neurophysin I"""	167050	"""oxytocin, prepro- (neurophysin I)"", ""oxytocin, prepropeptide"""	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.10C>A	20.37:g.3052311C>A	ENSP00000217386:p.Pro4Thr						p.P4T	NM_000915	NP_000906	P01178	NEU1_HUMAN			1	46	+			4					Q3MIG0	Missense_Mutation	SNP	ENST00000217386.2	37	c.10C>A	CCDS13044.1	.	.	.	.	.	.	.	.	.	.	C	2.920	-0.223471	0.06061	.	.	ENSG00000101405	ENST00000217386	D	0.97941	-4.62	5.41	1.35	0.21983	.	0.694765	0.14517	N	0.314734	D	0.90356	0.6982	N	0.15975	0.35	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.80207	-0.1478	10	0.02654	T	1	-5.8607	4.6621	0.12648	0.14:0.5521:0.0:0.3079	.	4	P01178	NEU1_HUMAN	T	4	ENSP00000217386:P4T	ENSP00000217386:P4T	P	+	1	0	OXT	3000311	0.000000	0.05858	0.849000	0.33467	0.922000	0.55478	-0.258000	0.08733	0.022000	0.15160	0.557000	0.71058	CCC		0.692	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2	NM_000915		4	15	1	0	2.17888e-05	0.006214	2.52852e-05	4	15				
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3128052T>A	ENST00000380266.3	-	2	1986	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S555S(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTCAGGCTTTGAATTCATAT	0.458																																							uc002whz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1663-1665)TCA>TCT		FAST kinase domains 5							55.0	61.0	59.0					20																	3128052		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128052T>A	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1665A>T	20.37:g.3128052T>A						uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.S555S	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	1976	-			555					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1665A>T	CCDS13048.1																																																																																				0.458	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		33	99	0	0	0	0.002096	0	33	99				
C20orf194	25943	broad.mit.edu	37	20	3234371	3234371	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3234371C>A	ENST00000252032.9	-	36	3489		c.e36+1		C20orf194_ENST00000453730.2_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194									p.?(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCAAGGATACGTGGGTGAAA	0.507																																							uc002wii.2		NA																	2	Unknown(2)		lung(2)		0						c.e36+1		hypothetical protein LOC25943							72.0	78.0	76.0					20																	3234371		2073	4208	6281	SO:0001630	splice_region_variant	25943							g.chr20:3234371C>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3421+1G>T	20.37:g.3234371C>A						C20orf194_uc002wij.3_Splice_Site_p.L880_splice|C20orf194_uc002wik.2_Splice_Site_p.L815_splice	p.L1141_splice	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			36	3472	-								Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3421_splice	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528739	0.85706	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3182371	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.648000	0.61425	2.625000	0.88918	0.655000	0.94253	.		0.507	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Intron	35	96	1	0	3.62531e-18	0.004289	5.79463e-18	35	96				
PANK2	80025	broad.mit.edu	37	20	3869922	3869922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3869922C>T	ENST00000316562.4	+	1	181	c.175C>T	c.(175-177)Cga>Tga	p.R59*	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000497424.1_Intron|PANK2_ENST00000610179.1_5'Flank	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	59					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R59*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAATCCTCCTCGAGTTAGGGA	0.677																																							uc002wkc.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(175-177)CGA>TGA		pantothenate kinase 2 isoform 1 preproprotein							35.0	27.0	30.0					20																	3869922		2203	4300	6503	SO:0001587	stop_gained	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3869922C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.175C>T	20.37:g.3869922C>T	ENSP00000313377:p.Arg59*					uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	p.R59*	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			1	181	+			59					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Nonsense_Mutation	SNP	ENST00000316562.4	37	c.175C>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713965	0.68730	.	.	ENSG00000125779	ENST00000316562	.	.	.	5.13	0.623	0.17654	.	1.038240	0.07707	N	0.941339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5768	0.39463	0.1511:0.4082:0.4406:0.0	.	.	.	.	X	59	.	ENSP00000313377:R59X	R	+	1	2	PANK2	3817922	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.282000	0.08445	0.061000	0.16311	0.655000	0.94253	CGA		0.677	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	17	0	0	0	0.00308	0	7	17				
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:8862495G>C	ENST00000338037.6	+	32	3677	c.3650G>C	c.(3649-3651)tGa>tCa	p.*1217S	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.*1217S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCTGTGAATGCTCCTG	0.522																																							uc002wnb.2		NA																	2	Nonstop extension(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3649-3651)TGA>TCA		phosphoinositide-specific phospholipase C beta 1							52.0	58.0	56.0					20																	8862495		2203	4300	6503	SO:0001578	stop_lost	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862495G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3650G>C	20.37:g.8862495G>C	ENSP00000338185:p.*1217Serext*38					PLCB1_uc002wna.2_3'UTR	p.*1217S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			32	3653	+			1217					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonstop_Mutation	SNP	ENST00000338037.6	37	c.3650G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	4.250	0.045394	0.08196	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	.	.	.	6.06	-0.251	0.13003	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3389	0.38067	0.6249:0.0:0.3751:0.0	.	.	.	.	S	1217;1137	.	.	X	+	2	2	PLCB1	8810495	1.000000	0.71417	0.803000	0.32268	0.394000	0.30568	2.130000	0.42064	0.168000	0.19655	-0.142000	0.14014	TGA		0.522	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			17	56	0	0	0	0.004007	0	17	56				
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:19674054C>A	ENST00000328041.6	+	13	1673	c.1476C>A	c.(1474-1476)taC>taA	p.Y492*	RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	492					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.Y492*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTCTCCTACATGATGGTGT	0.488																																							uc002wrl.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1474-1476)TAC>TAA		solute carrier family 24							96.0	79.0	85.0					20																	19674054		2203	4300	6503	SO:0001587	stop_gained	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19674054C>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1476C>A	20.37:g.19674054C>A	ENSP00000333519:p.Tyr492*						p.Y492*	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			13	1673	+			492			Helical; (Potential).		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Nonsense_Mutation	SNP	ENST00000328041.6	37	c.1476C>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	39	7.369428	0.98241	.	.	ENSG00000185052	ENST00000328041	.	.	.	5.43	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3331	0.49487	0.0:0.8419:0.0:0.1581	.	.	.	.	X	492	.	.	Y	+	3	2	SLC24A3	19622054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.741000	0.47426	2.547000	0.85894	0.655000	0.94253	TAC		0.488	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		22	67	1	0	2.41591e-17	0.004656	3.81701e-17	22	67				
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:33067498A>T	ENST00000262650.6	+	19	1981	c.1845A>T	c.(1843-1845)gcA>gcT	p.A615A	ITCH_ENST00000535650.1_Silent_p.A464A|ITCH_ENST00000374864.4_Silent_p.A574A|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	615	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.A574A(2)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAATATGCAGGGAAGGATA	0.353																																							uc010geu.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(4)|lung(1)|central_nervous_system(1)	6						c.(1843-1845)GCA>GCT		itchy homolog E3 ubiquitin protein ligase							179.0	156.0	164.0					20																	33067498		2203	4300	6503	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33067498A>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1845A>T	20.37:g.33067498A>T						ITCH_uc002xak.2_Silent_p.A574A|ITCH_uc010zuj.1_Silent_p.A464A	p.A615A	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			19	2037	+			615			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1845A>T	CCDS58768.1																																																																																				0.353	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			30	56	0	0	0	0.008361	0	30	56				
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:40042045C>T	ENST00000373233.3	-	35	7227	c.7050G>A	c.(7048-7050)gaG>gaA	p.E2350E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E2350E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAATGGATTTCTCGGCTTGGC	0.592																																							uc002xka.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(7048-7050)GAG>GAA		chromodomain helicase DNA binding protein 6							45.0	44.0	45.0					20																	40042045		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40042045C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7050G>A	20.37:g.40042045C>T						CHD6_uc002xjz.1_5'UTR	p.E2350E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			35	7228	-		Myeloproliferative disorder(115;0.00425)	2350					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.7050G>A	CCDS13317.1																																																																																				0.592	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			6	35	0	0	0	0.00308	0	6	35				
CHD6	84181	broad.mit.edu	37	20	40122580	40122580	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:40122580T>C	ENST00000373233.3	-	9	1274	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G	CHD6_ENST00000309279.7_Missense_Mutation_p.D366G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	366	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.D366G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTCTTCATCAGGCTAACA	0.488																																							uc002xka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(1096-1098)GAT>GGT		chromodomain helicase DNA binding protein 6							108.0	88.0	95.0					20																	40122580		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40122580T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1097A>G	20.37:g.40122580T>C	ENSP00000362330:p.Asp366Gly					CHD6_uc002xkd.2_Missense_Mutation_p.D344G	p.D366G	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			9	1275	-		Myeloproliferative disorder(115;0.00425)	366					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1097A>G	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.011371|5.011371	0.93346|0.93346	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	T;T|.	0.71817|.	-0.6;-0.6|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.64402|.	D|.	0.000015|.	T|T	0.73497|0.73497	0.3594|0.3594	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P|.	0.51537|.	0.946|.	P|.	0.57244|.	0.816|.	T|T	0.73600|0.73600	-0.3931|-0.3931	10|5	0.87932|.	D|.	0|.	-18.5147|-18.5147	15.1165|15.1165	0.72407|0.72407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	366|.	Q8TD26|.	CHD6_HUMAN|.	G|V	366|69	ENSP00000362330:D366G;ENSP00000308684:D366G|.	ENSP00000308684:D366G|.	D|M	-|-	2|1	0|0	CHD6|CHD6	39555994|39555994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.655000|7.655000	0.83696|0.83696	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			3	48	0	0	0	0.004672	0	3	48				
MYBL2	4605	broad.mit.edu	37	20	42344627	42344627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:42344627G>T	ENST00000217026.4	+	14	2130	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	MYBL2_ENST00000396863.4_Missense_Mutation_p.C644F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	668					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C668F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGGTGGCCTGCGGGGGGACC	0.622																																							uc002xlb.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|kidney(2)	5						c.(2002-2004)TGC>TTC		MYB-related protein B							111.0	119.0	116.0					20																	42344627		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42344627G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2003G>T	20.37:g.42344627G>T	ENSP00000217026:p.Cys668Phe					MYBL2_uc010zwj.1_Missense_Mutation_p.C644F	p.C668F	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	2218	+		Myeloproliferative disorder(115;0.00452)	668					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.2003G>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603961	0.28534	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.21031	2.03;2.04	4.97	4.97	0.65823	.	0.048681	0.85682	D	0.000000	T	0.34395	0.0896	L	0.45581	1.43	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.979;0.994	T	0.02950	-1.1090	10	0.13108	T	0.6	-13.8188	12.5042	0.55972	0.0:0.0:0.8328:0.1672	.	644;668	F8W6N6;P10244	.;MYBB_HUMAN	F	644;668	ENSP00000380072:C644F;ENSP00000217026:C668F	ENSP00000217026:C668F	C	+	2	0	MYBL2	41778041	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.555000	0.67301	2.474000	0.83562	0.561000	0.74099	TGC		0.622	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		9	405	1	0	5.4927e-09	0.004482	7.15862e-09	9	405				
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:42695474G>T	ENST00000358131.5	+	7	1615	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TOX2_ENST00000341197.4_Silent_p.G487G|TOX2_ENST00000423191.2_Silent_p.G445G|TOX2_ENST00000372999.1_Silent_p.G445G|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G496G(2)|p.G445G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCAGTGGGGAGTGTGGCA	0.642																																							uc002xlf.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1405-1407)GGG>GGT		TOX high mobility group box family member 2							122.0	111.0	115.0					20																	42695474		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695474G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1407G>T	20.37:g.42695474G>T						TOX2_uc010ggo.2_Silent_p.G487G|TOX2_uc002xle.3_Silent_p.G445G|TOX2_uc010ggp.2_Silent_p.G445G|TOX2_uc002xlg.2_Silent_p.G286G|TOX2_uc010zwk.1_Silent_p.G365G	p.G469G	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1424	+		Myeloproliferative disorder(115;0.00452)	469					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1407G>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318691	0.40996	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.51	2.01	0.26516	.	0.245550	0.37053	N	0.002273	T	0.60196	0.2250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59899	-0.7367	6	0.87932	D	0	.	6.0638	0.19852	0.142:0.3522:0.5058:0.0	.	.	.	.	V	94	.	ENSP00000362083:G94V	G	+	2	0	TOX2	42128888	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.535000	0.45685	0.620000	0.30215	0.655000	0.94253	GGG		0.642	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			61	145	1	0	1.48005e-37	0.00361	2.684e-37	61	145				
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:43034856C>A	ENST00000316099.4	+	2	363	c.274C>A	c.(274-276)Cac>Aac	p.H92N	HNF4A_ENST00000609795.1_Missense_Mutation_p.H70N|HNF4A_ENST00000316673.4_Missense_Mutation_p.H70N|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.H92N|HNF4A_ENST00000457232.1_Missense_Mutation_p.H70N|HNF4A_ENST00000415691.2_Missense_Mutation_p.H92N	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	92					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H92N(4)|p.H70N(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGAAGAACCACATGTACTC	0.607																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)|lung(1)|skin(1)	3						c.(274-276)CAC>AAC		hepatocyte nuclear factor 4 alpha isoform b							51.0	48.0	49.0					20																	43034856		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034856C>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.274C>A	20.37:g.43034856C>A	ENSP00000312987:p.His92Asn					HNF4A_uc010zwo.1_Silent_p.T82T|HNF4A_uc002xlt.2_Missense_Mutation_p.H70N|HNF4A_uc002xlu.2_Missense_Mutation_p.H70N|HNF4A_uc002xlv.2_Missense_Mutation_p.H70N|HNF4A_uc002xly.2_Missense_Mutation_p.H92N|HNF4A_uc002xlz.2_Missense_Mutation_p.H92N|HNF4A_uc010ggq.2_Missense_Mutation_p.H85N	p.H92N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	363	+		Myeloproliferative disorder(115;0.0122)	92			Nuclear receptor.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.274C>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.652778	0.88056	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.17	5.17	0.71159	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.246452	0.47852	D	0.000215	D	0.96144	0.8743	L	0.31752	0.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0;0.997	D;D;D;D;D;D;D	0.87578	0.998;0.988;0.988;0.996;0.997;0.994;0.986	D	0.96973	0.9710	10	0.62326	D	0.03	.	18.7348	0.91750	0.0:1.0:0.0:0.0	.	85;92;92;92;70;70;70	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	N	70;70;92;92;122;92	ENSP00000315180:H70N;ENSP00000396216:H70N;ENSP00000312987:H92N;ENSP00000410911:H92N;ENSP00000412111:H92N	ENSP00000312987:H92N	H	+	1	0	HNF4A	42468270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.753000	0.85153	2.414000	0.81942	0.645000	0.84053	CAC		0.607	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			28	57	1	0	4.59853e-10	0.005443	6.12793e-10	28	57				
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657																																							uc002xqw.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2155-2157)CGC>TGC		zinc finger protein 335							33.0	37.0	36.0					20																	44587938		2202	4300	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44587938G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2155C>T	20.37:g.44587938G>A	ENSP00000325326:p.Arg719Cys					ZNF335_uc010zxk.1_Missense_Mutation_p.R564C	p.R719C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			15	2278	-		Myeloproliferative disorder(115;0.0122)	719					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2155C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561478	0.86335	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.11063	2.94;2.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.00609	-1.1646	10	0.66056	D	0.02	-32.1644	17.5159	0.87773	0.0:0.0:1.0:0.0	.	564;719	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	719;496;564	ENSP00000325326:R719C;ENSP00000397098:R564C	ENSP00000243961:R496C	R	-	1	0	ZNF335	44021345	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.631000	0.67812	2.607000	0.88179	0.561000	0.74099	CGC		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		31	80	0	0	0	0.003755	0	31	80				
GID8	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:61576189C>T	ENST00000266069.3	+	5	759	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	204						cell junction (GO:0030054)|nucleus (GO:0005634)		p.N204N(2)									GGGCTCAGAACGAGCTGGACC	0.473																																							uc002ydy.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(610-612)AAC>AAT		chromosome 20 open reading frame 11							88.0	78.0	81.0					20																	61576189		2203	4300	6503	SO:0001819	synonymous_variant	54994					nucleus	protein binding	g.chr20:61576189C>T	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.612C>T	20.37:g.61576189C>T							p.N204N	NM_017896	NP_060366	Q9NWU2	CT011_HUMAN			5	789	+	Breast(26;5.68e-08)		204					E1P5I3|Q8N5M5	Silent	SNP	ENST00000266069.3	37	c.612C>T	CCDS13510.1																																																																																				0.473	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		34	81	0	0	0	0.002445	0	34	81				
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:10970037C>A	ENST00000361285.4	-	6	420	c.91G>T	c.(91-93)Gca>Tca	p.A31S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.A31S|TPTE_ENST00000342420.5_Missense_Mutation_p.A31S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A31S(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTCGGTTGCTCCTTTAAAT	0.393																																							uc002yip.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(91-93)GCA>TCA		transmembrane phosphatase with tensin homology							216.0	205.0	209.0					21																	10970037		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970037C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.91G>T	21.37:g.10970037C>A	ENSP00000355208:p.Ala31Ser					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A31S|TPTE_uc002yir.1_Missense_Mutation_p.A31S|TPTE_uc010gkv.1_Intron	p.A31S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	459	-			31					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.91G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	1.709	-0.499590	0.04291	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95588	-3.75;-3.5;-3.45	0.725	-0.225	0.13111	.	.	.	.	.	D	0.87529	0.6200	N	0.22421	0.69	0.09310	N	1	B;P;B	0.42871	0.122;0.792;0.174	B;B;B	0.37601	0.059;0.254;0.048	T	0.80251	-0.1460	9	0.30854	T	0.27	.	3.2263	0.06732	0.0:0.6736:0.0:0.3264	.	31;31;31	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	31	ENSP00000298232:A31S;ENSP00000355208:A31S;ENSP00000344441:A31S	ENSP00000298232:A31S	A	-	1	0	TPTE	9991908	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.260000	0.18424	-0.097000	0.12307	-1.031000	0.02408	GCA		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			26	150	1	0	1.16021e-09	0.007291	1.53916e-09	26	150				
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	C	G	rs34428315		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:37664514C>G	ENST00000399151.3	+	36	6713	c.6628C>G	c.(6628-6630)Cta>Gta	p.L2210V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2210					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L2210V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTAGAACTTCTAAAATTAAA	0.428																																							uc002yvg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(6628-6630)CTA>GTA		pad-1-like							66.0	68.0	67.0					21																	37664514		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37664514C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6628C>G	21.37:g.37664514C>G	ENSP00000382104:p.Leu2210Val					DOPEY2_uc011aeb.1_Missense_Mutation_p.L2159V	p.L2210V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			36	6707	+			2210					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.6628C>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940935	0.52972	.	.	ENSG00000142197	ENST00000399151	T	0.48201	0.82	4.75	3.87	0.44632	.	0.068447	0.64402	D	0.000015	T	0.61426	0.2346	M	0.81341	2.54	0.39008	D	0.959491	D;D	0.62365	0.991;0.985	P;P	0.55824	0.785;0.614	T	0.67764	-0.5586	10	0.62326	D	0.03	.	10.0557	0.42244	0.0:0.8352:0.0:0.1648	.	2203;2210	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	2210	ENSP00000382104:L2210V	ENSP00000382104:L2210V	L	+	1	2	DOPEY2	36586384	0.999000	0.42202	0.970000	0.41538	0.998000	0.95712	1.420000	0.34804	1.138000	0.42230	0.655000	0.94253	CTA		0.428	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		22	51	0	0	0	0.010504	0	22	51				
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr22:29886353G>A	ENST00000310624.6	+	4	2757	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	914	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K908K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGAGGCTCCTG	0.498																																							uc003afo.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2722-2724)AAG>AAA		neurofilament, heavy polypeptide 200kDa							56.0	61.0	59.0					22																	29886353		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886353G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2724G>A	22.37:g.29886353G>A						NEFH_uc003afp.2_5'UTR	p.K908K	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2795	+			914			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2724G>A	CCDS13858.1																																																																																				0.498	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		6	17	0	0	0	0.00308	0	6	17				
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:41274850G>T	ENST00000349496.5	+	8	1380	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G367V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G360V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G367V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	367					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G367V(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAAGCTTTAGGACTTCACCTG	0.393		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	2	Substitution - Missense(2)		lung(2)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1099-1101)GGA>GTA		beta-catenin	Lithium(DB01356)						100.0	89.0	93.0					3																	41274850		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41274850G>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1100G>T	3.37:g.41274850G>T	ENSP00000344456:p.Gly367Val					CTNNB1_uc003ckp.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckq.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckr.2_Missense_Mutation_p.G367V|CTNNB1_uc011azf.1_Missense_Mutation_p.G360V|CTNNB1_uc011azg.1_Missense_Mutation_p.G295V|CTNNB1_uc003cks.2_5'Flank|CTNNB1_uc003ckt.1_5'Flank	p.G367V	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1256	+			367			ARM 6.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1100G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468522	0.84533	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.71581	2.175	0.80722	D	1	B;P	0.43826	0.273;0.818	B;P	0.55391	0.357;0.775	T	0.63782	-0.6559	10	0.15066	T	0.55	1.2085	19.8737	0.96861	0.0:0.0:1.0:0.0	.	295;367	B4DSW9;P35222	.;CTNB1_HUMAN	V	367;367;367;360;367	ENSP00000385604:G367V;ENSP00000379486:G367V;ENSP00000344456:G367V;ENSP00000411226:G360V;ENSP00000379488:G367V	ENSP00000344456:G367V	G	+	2	0	CTNNB1	41249854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	GGA		0.393	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		19	62	1	0	3.99206e-14	0.007413	5.91822e-14	19	62				
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42703101C>T	ENST00000232974.6	+	3	1879	c.1598C>T	c.(1597-1599)gCc>gTc	p.A533V	ZBTB47_ENST00000457842.3_Missense_Mutation_p.A157V|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79V			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	533					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.A533V(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TACACCATGGCCCACGTGCGT	0.522																																							uc003clu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(469-471)GCC>GTC		zinc finger protein 651							61.0	61.0	61.0					3																	42703101		2014	4192	6206	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703101C>T	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1598C>T	3.37:g.42703101C>T	ENSP00000232974:p.Ala533Val						p.A157V	NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	572	+			157			C2H2-type 4.		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.470C>T	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235820	0.79800	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.07688	3.17;3.17;3.17	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.24404	-1.0161	10	0.72032	D	0.01	-29.8628	17.9287	0.88991	0.0:1.0:0.0:0.0	.	157	Q9UFB7	ZBT47_HUMAN	V	533;432;157;79	ENSP00000232974:A533V;ENSP00000411491:A157V;ENSP00000420968:A79V	ENSP00000232974:A533V	A	+	2	0	ZBTB47	42678105	1.000000	0.71417	0.995000	0.50966	0.776000	0.43924	7.754000	0.85163	2.230000	0.72887	0.561000	0.74099	GCC		0.522	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		13	45	0	0	0	0.00245	0	13	45				
KRBOX1	100506243	broad.mit.edu	37	3	42982786	42982786	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42982786C>A	ENST00000418176.1	+	2	2139	c.105C>A	c.(103-105)gcC>gcA	p.A35A	KRBOX1_ENST00000443313.1_Silent_p.A35A|KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000383748.4_Silent_p.A35A|KRBOX1_ENST00000426937.1_Silent_p.A35A			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.A35A(4)		lung(2)	2						TGGTGCCTGCCGAGAGGGCCT	0.537																																							uc003cmm.3		NA																	4	Substitution - coding silent(4)		lung(4)		NA						c.(100-102)GCC>GCA		SubName: Full=cDNA FLJ51974;																																				SO:0001819	synonymous_variant	0							g.chr3:42982786C>A		CCDS54572.1	3p22.1	2014-02-12	2010-07-29		ENSG00000240747	ENSG00000240747		"""-"""	38708	protein-coding gene	gene with protein product							Standard	NM_001205272		Approved		uc003cmm.4	C9JBD0	OTTHUMG00000156448	ENST00000418176.1:c.105C>A	3.37:g.42982786C>A						uc003cmn.3_Silent_p.A34A	p.A34A							3	247	+								B4DJE8	Silent	SNP	ENST00000418176.1	37	c.102C>A	CCDS54572.1																																																																																				0.537	KRBOX1-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344236.1	NM_001205272		3	10	1	0	0.004672	0.004672	0.00501901	3	10				
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:47663809C>G	ENST00000254480.5	-	25	2788	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	890					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.R890T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGATCTTTCTTTCTTCCAC	0.378																																							uc003crq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|lung(1)	3						c.(2668-2670)AGA>ACA		SWI/SNF-related matrix-associated							148.0	141.0	144.0					3																	47663809		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47663809C>G	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2669G>C	3.37:g.47663809C>G	ENSP00000254480:p.Arg890Thr					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R781T	p.R890T	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	25	2787	-			890					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2669G>C	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089101	0.94100	.	.	ENSG00000173473	ENST00000254480	T	0.71341	-0.56	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89336	0.3650	10	0.59425	D	0.04	-20.9845	19.1705	0.93575	0.0:1.0:0.0:0.0	.	890	Q92922	SMRC1_HUMAN	T	890	ENSP00000254480:R890T	ENSP00000254480:R890T	R	-	2	0	SMARCC1	47638813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	AGA		0.378	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			53	151	0	0	0	0.00361	0	53	151				
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:49691797C>T	ENST00000296452.4	+	5	4922	c.4808C>T	c.(4807-4809)tCt>tTt	p.S1603F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1603					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.S1603F(2)		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)		CCGAGTGTGTCTCAGCTGCCC	0.642																																							uc003cxe.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4807-4809)TCT>TTT		bassoon protein							52.0	48.0	50.0					3																	49691797		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691797C>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.4808C>T	3.37:g.49691797C>T	ENSP00000296452:p.Ser1603Phe						p.S1603F	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	4922	+			1603					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4808C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687491	0.48097	.	.	ENSG00000164061	ENST00000296452	T	0.19105	2.17	5.1	5.1	0.69264	.	0.556226	0.18103	N	0.151635	T	0.18087	0.0434	N	0.19112	0.55	0.47737	D	0.999502	P	0.37955	0.612	B	0.37833	0.259	T	0.07966	-1.0745	10	0.72032	D	0.01	.	17.2765	0.87116	0.0:1.0:0.0:0.0	.	1603	Q9UPA5	BSN_HUMAN	F	1603	ENSP00000296452:S1603F	ENSP00000296452:S1603F	S	+	2	0	BSN	49666801	0.131000	0.22433	0.863000	0.33907	0.901000	0.52897	4.090000	0.57693	2.384000	0.81235	0.561000	0.74099	TCT		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		13	30	0	0	0	0.00245	0	13	30				
CACNA2D3	55799	broad.mit.edu	37	3	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:54913116G>T	ENST00000474759.1	+	19	1830	c.1782G>T	c.(1780-1782)ggG>ggT	p.G594G	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Splice_Site_p.G594G|CACNA2D3_ENST00000415676.2_Splice_Site_p.G594G|CACNA2D3_ENST00000490478.1_Splice_Site_p.G500G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	594						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G594G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGGACAAAGGGGTACATTTTT	0.343																																							uc003dhf.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1780-1782)GGG>GGT		calcium channel, voltage-dependent, alpha							88.0	90.0	89.0					3																	54913116		1833	4076	5909	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54913116G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1782+1G>T	3.37:g.54913116G>T						CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.G500G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.G328G|uc003dhk.1_Intron	p.G594G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	19	1830	+			594			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.1782G>T	CCDS54598.1																																																																																				0.343	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Silent	10	31	1	0	5.16669e-11	0.000978	7.10869e-11	10	31				
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:77623840G>T	ENST00000461745.1	+	14	3062	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	ROBO2_ENST00000487694.3_Missense_Mutation_p.G737V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G721V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	721	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.G737V(2)|p.G721V(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTTCCAAGGAATGGATAGT	0.373																																							uc003dpy.3		NA																	4	Substitution - Missense(4)		lung(4)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2161-2163)GGA>GTA		roundabout, axon guidance receptor, homolog 2							48.0	44.0	45.0					3																	77623840		1835	4094	5929	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77623840G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2162G>T	3.37:g.77623840G>T	ENSP00000417164:p.Gly721Val					ROBO2_uc003dpz.2_Missense_Mutation_p.G725V|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G725V	p.G721V	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	14	2805	+			721			Fibronectin type-III 2.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2162G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821397	0.90873	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.60797	0.16;0.16;0.16	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000414	T	0.80292	0.4596	M	0.84948	2.725	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82692	-0.0331	9	0.87932	D	0	.	19.7585	0.96304	0.0:0.0:1.0:0.0	.	737;721;721	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	737;737;741;721;721;442	ENSP00000417335:G737V;ENSP00000417164:G721V;ENSP00000327536:G721V	ENSP00000327536:G721V	G	+	2	0	ROBO2	77706530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.665000	0.90641	0.585000	0.79938	GGA		0.373	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		9	26	1	0	1.12685e-05	0.004482	1.31281e-05	9	26				
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	G	C	rs377115740		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:87017756G>C	ENST00000398399.2	-	3	1284	c.921C>G	c.(919-921)agC>agG	p.S307R	VGLL3_ENST00000383698.3_Missense_Mutation_p.S307R	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.S307R(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAATCCCACGCTGGGCACTA	0.418																																							uc003dqn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(919-921)AGC>AGG		colon carcinoma related protein							83.0	80.0	81.0					3																	87017756		1976	4154	6130	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017756G>C	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.921C>G	3.37:g.87017756G>C	ENSP00000381436:p.Ser307Arg						p.S307R	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1285	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	307						Missense_Mutation	SNP	ENST00000398399.2	37	c.921C>G	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463614	0.63513	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.55234	0.53;0.59	5.77	4.62	0.57501	.	0.308756	0.33180	N	0.005199	T	0.69324	0.3098	M	0.70275	2.135	0.47308	D	0.999381	D	0.76494	0.999	D	0.79108	0.992	T	0.71712	-0.4510	10	0.87932	D	0	0.0255	11.3831	0.49770	0.9285:0.0:0.0715:0.0	.	307	A8MV65	VGLL3_HUMAN	R	307	ENSP00000381436:S307R;ENSP00000373199:S307R	ENSP00000373199:S307R	S	-	3	2	VGLL3	87100446	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.550000	0.36223	1.034000	0.39945	-0.340000	0.08031	AGC		0.418	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		14	59	0	0	0	0.003163	0	14	59				
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:89391035G>T	ENST00000336596.2	+	5	1326	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G	EPHA3_ENST00000494014.1_Silent_p.G367G|EPHA3_ENST00000452448.2_Silent_p.G367G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G367G(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAATGTGGGTGGAATATAA	0.488										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1099-1101)GGG>GGT		ephrin receptor EphA3 isoform a precursor							112.0	107.0	109.0					3																	89391035		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391035G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1101G>T	3.37:g.89391035G>T		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.G367G|EPHA3_uc010hon.1_RNA	p.G367G	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1326	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	367			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1101G>T	CCDS2922.1																																																																																				0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		18	81	1	0	1.55795e-14	0.001882	2.32711e-14	18	81				
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	G	C	rs202241125		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:99567728G>C	ENST00000354552.3	-	5	3262	c.2792C>G	c.(2791-2793)aCg>aGg	p.T931R	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T691R|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T691R|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T931R|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T507R	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T931R(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCAGTACTCGTGTAAGAGTG	0.473																																							uc003dtm.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2791-2793)ACG>AGG		filamin A interacting protein 1-like isoform 1							299.0	288.0	292.0					3																	99567728		2047	4190	6237	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567728G>C		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2792C>G	3.37:g.99567728G>C	ENSP00000346560:p.Thr931Arg					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.T931R|FILIP1L_uc010hpf.2_Missense_Mutation_p.T507R|FILIP1L_uc010hpg.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtn.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtp.1_Missense_Mutation_p.T691R	p.T931R	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	3255	-			931					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2792C>G	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597528	0.66332	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.26957	2.13;1.7;1.81;2.13;1.81;1.79	6.11	6.11	0.99139	.	0.000000	0.53938	D	0.000050	T	0.49745	0.1575	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.36890	-0.9729	10	0.87932	D	0	-13.0458	20.7342	0.99715	0.0:0.0:1.0:0.0	.	931;931	Q4L180-2;Q4L180	.;FIL1L_HUMAN	R	931;507;691;931;691;677;691	ENSP00000346560:T931R;ENSP00000417774:T507R;ENSP00000419642:T691R;ENSP00000327880:T931R;ENSP00000373192:T691R;ENSP00000419874:T691R	ENSP00000327880:T931R	T	-	2	0	FILIP1L	101050418	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	9.864000	0.99589	2.906000	0.99361	0.655000	0.94253	ACG		0.473	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		85	275	0	0	0	0.00361	0	85	275				
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:100328780T>A	ENST00000273352.3	+	1	348	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	27					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L27Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTTTGGGACTGGGCATCTGG	0.517																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(79-81)CTG>CAG		G protein-coupled receptor 128 precursor							233.0	189.0	204.0					3																	100328780		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100328780T>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.80T>A	3.37:g.100328780T>A	ENSP00000273352:p.Leu27Gln						p.L27Q	NM_032787	NP_116176	Q96K78	GP128_HUMAN			1	348	+			27			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.80T>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804097	0.50315	.	.	ENSG00000144820	ENST00000273352	T	0.56444	0.46	5.69	5.69	0.88448	.	0.000000	0.44285	D	0.000462	T	0.69314	0.3097	M	0.67953	2.075	0.58432	D	0.999993	D	0.89917	1.0	D	0.76575	0.988	T	0.72693	-0.4216	10	0.87932	D	0	.	12.3498	0.55143	0.0:0.0:0.0:1.0	.	27	Q96K78	GP128_HUMAN	Q	27	ENSP00000273352:L27Q	ENSP00000273352:L27Q	L	+	2	0	GPR128	101811470	0.423000	0.25482	0.707000	0.30419	0.289000	0.27227	3.480000	0.53172	2.162000	0.67917	0.460000	0.39030	CTG		0.517	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			28	98	0	0	0	0.009535	0	28	98				
MORC1	27136	broad.mit.edu	37	3	108819263	108819263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:108819263C>G	ENST00000483760.1	-	5	358		c.e5+1		MORC1_ENST00000232603.5_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1									p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAAATTCTCACCTTTTAAGAC	0.353																																							uc003dxl.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.e5+1		MORC family CW-type zinc finger 1							129.0	131.0	130.0					3																	108819263		2203	4300	6503	SO:0001630	splice_region_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819263C>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.314+1G>C	3.37:g.108819263C>G						MORC1_uc011bhn.1_Splice_Site_p.S105_splice	p.S105_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			5	401	-									Splice_Site	SNP	ENST00000483760.1	37	c.314_splice		.	.	.	.	.	.	.	.	.	.	C	17.70	3.455085	0.63290	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5466	0.84448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110301953	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.665000	0.61547	2.773000	0.95371	0.655000	0.94253	.		0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Intron	5	175	0	0	0	0.000602	0	5	175				
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:120973837G>T	ENST00000273666.6	+	16	1808	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D513Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D513Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGAGGAAGACCCATTTGC	0.363																																							uc003eec.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1537-1539)GAC>TAC		syntaxin binding protein 5-like							92.0	87.0	89.0					3																	120973837		1862	4122	5984	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120973837G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1537G>T	3.37:g.120973837G>T	ENSP00000273666:p.Asp513Tyr					STXBP5L_uc011bji.1_Missense_Mutation_p.D513Y	p.D513Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	16	1677	+			513					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1537G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380526	0.82792	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.63096	0.56;-0.02;-0.02;0.56;-0.02;-0.02	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83630	0.0144	10	0.87932	D	0	-5.9562	19.2886	0.94089	0.0:0.0:1.0:0.0	.	513;513	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Y	513	ENSP00000273666:D513Y;ENSP00000420019:D513Y;ENSP00000419627:D513Y;ENSP00000420287:D513Y;ENSP00000420666:D513Y;ENSP00000420167:D513Y	ENSP00000273666:D513Y	D	+	1	0	STXBP5L	122456527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.370000	0.97159	2.553000	0.86117	0.655000	0.94253	GAC		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			13	35	1	0	1.5842e-08	0.001855	2.04669e-08	13	35				
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122002901C>A	ENST00000490131.1	+	7	2472	c.2100C>A	c.(2098-2100)aaC>aaA	p.N700K	CASR_ENST00000296154.5_Missense_Mutation_p.N700K|CASR_ENST00000498619.1_Missense_Mutation_p.N710K|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602																																							uc003eev.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2098-2100)AAC>AAA		calcium-sensing receptor precursor	Cinacalcet(DB01012)						77.0	69.0	72.0					3																	122002901		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002901C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2100C>A	3.37:g.122002901C>A	ENSP00000418685:p.Asn700Lys					CASR_uc003eew.3_Missense_Mutation_p.N710K	p.N700K	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2472	+			700			Helical; Name=3; (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2100C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665664	0.47677	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88975	-2.45;-2.45;-2.45	6.04	1.75	0.24633	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	L	0.53249	1.67	0.52099	D	0.999948	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.945	D	0.90636	0.4571	10	0.66056	D	0.02	.	11.5737	0.50850	0.0:0.6464:0.0:0.3536	.	710;700	E7ENE0;P41180	.;CASR_HUMAN	K	700;710;700	ENSP00000418685:N700K;ENSP00000420194:N710K;ENSP00000296154:N700K	ENSP00000296154:N700K	N	+	3	2	CASR	123485591	0.844000	0.29557	0.994000	0.49952	0.995000	0.86356	-0.003000	0.12901	0.438000	0.26450	0.561000	0.74099	AAC		0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		29	115	1	0	1.7881e-09	0.008361	2.35632e-09	29	115				
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122631831A>G	ENST00000357599.3	-	18	2970	c.2584T>C	c.(2584-2586)Tgg>Cgg	p.W862R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W916R|SEMA5B_ENST00000195173.4_Missense_Mutation_p.W861R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	862	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.W916R(2)|p.W862R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGACGACCACGGGCCCCAG	0.746																																							uc003efz.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2584-2586)TGG>CGG		semaphorin 5B isoform 1							11.0	14.0	13.0					3																	122631831		2186	4281	6467	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631831A>G	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2584T>C	3.37:g.122631831A>G	ENSP00000350215:p.Trp862Arg					SEMA5B_uc011bju.1_Missense_Mutation_p.W804R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.W862R|SEMA5B_uc003efy.1_5'Flank	p.W862R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	18	2888	-			862			Extracellular (Potential).|TSP type-1 3.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2584T>C	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305902	0.81247	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.01	5.01	0.66863	.	0.196597	0.47852	D	0.000205	D	0.92260	0.7545	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94790	0.7961	10	0.87932	D	0	.	14.0489	0.64722	1.0:0.0:0.0:0.0	.	804;862	D3YTI7;Q9P283	.;SEM5B_HUMAN	R	862;861;804;916;862	ENSP00000350215:W862R;ENSP00000195173:W861R;ENSP00000389588:W916R;ENSP00000377208:W862R	ENSP00000195173:W861R	W	-	1	0	SEMA5B	124114521	1.000000	0.71417	0.920000	0.36463	0.990000	0.78478	9.100000	0.94213	2.114000	0.64651	0.533000	0.62120	TGG		0.746	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		8	25	0	0	0	0.004482	0	8	25				
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:131101022G>A	ENST00000521288.1	+	2	302	c.271G>A	c.(271-273)Gag>Aag	p.E91K	NUDT16_ENST00000359850.3_Missense_Mutation_p.E58K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E91K|NUDT16_ENST00000537561.1_Missense_Mutation_p.E45K|RP11-933H2.4_ENST00000502521.1_RNA			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	91	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)	p.E58K(2)		large_intestine(1)|lung(6)	7						TTTCCGCGTGGAGCGCACTGA	0.672																																							uc003eof.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(172-174)GAG>AAG		nudix-type motif 16							23.0	26.0	25.0					3																	131101022		2186	4272	6458	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131101022G>A	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.271G>A	3.37:g.131101022G>A	ENSP00000429274:p.Glu91Lys					uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.E45K|NUDT16_uc003eog.1_Missense_Mutation_p.E58K	p.E58K	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			2	213	+			91			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.172G>A	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736934	0.30774	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	3.72	3.72	0.42706	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.520844	0.17841	N	0.160209	T	0.11324	0.0276	L	0.33339	1.005	0.32526	N	0.535563	P;D	0.65815	0.867;0.995	B;P	0.59115	0.375;0.852	T	0.01702	-1.1292	10	0.08599	T	0.76	-14.5966	8.7681	0.34715	0.0:0.0:0.7745:0.2255	.	91;58	Q96DE0;B4E3B4	NUD16_HUMAN;.	K	45;58;91;91	ENSP00000440230:E45K;ENSP00000352911:E58K;ENSP00000429274:E91K;ENSP00000422375:E91K	ENSP00000352911:E58K	E	+	1	0	NUDT16	132583712	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	1.783000	0.38664	2.093000	0.63338	0.555000	0.69702	GAG		0.672	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		9	27	0	0	0	0.001882	0	9	27				
MED12L	116931	broad.mit.edu	37	3	151101922	151101922	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:151101922G>A	ENST00000474524.1	+	33	4775	c.4737G>A	c.(4735-4737)acG>acA	p.T1579T	MED12L_ENST00000273432.4_Silent_p.T1439T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1579						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T1579T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAATGGAACGTTAGCCTCTG	0.353																																							uc003eyp.2		NA																	2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4735-4737)ACG>ACA		mediator of RNA polymerase II transcription,							133.0	130.0	131.0					3																	151101922		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151101922G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4737G>A	3.37:g.151101922G>A						MED12L_uc011bnz.1_Silent_p.T1439T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.T742T	p.T1579T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		33	4775	+			1579					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.4737G>A	CCDS33876.1																																																																																				0.353	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	57	0	0	0	0.009096	0	4	57				
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:164733862G>C	ENST00000264382.3	-	32	3828	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGTGTACTGAACATCCTGA	0.333										HNSCC(35;0.089)																													uc003fei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3766-3768)CAG>GAG		sucrase-isomaltase	Acarbose(DB00284)						149.0	160.0	156.0					3																	164733862		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733862G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3766C>G	3.37:g.164733862G>C	ENSP00000264382:p.Gln1256Glu	HNSCC(35;0.089)					p.Q1256E	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3828	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1256			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3766C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015726	0.75161	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	4.93	4.93	0.64822	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.94021	3.485	0.58432	D	0.999991	D	0.89917	1.0	D	0.77557	0.99	D	0.98111	1.0420	10	0.87932	D	0	.	18.3199	0.90234	0.0:0.0:1.0:0.0	.	1256	P14410	SUIS_HUMAN	E	1256	ENSP00000264382:Q1256E	ENSP00000264382:Q1256E	Q	-	1	0	SI	166216556	1.000000	0.71417	0.981000	0.43875	0.730000	0.41778	7.112000	0.77086	2.557000	0.86248	0.585000	0.79938	CAG		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	72	0	0	0	0.009096	0	4	72				
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:170216488C>A	ENST00000231706.5	-	4	1042	c.727G>T	c.(727-729)Gag>Tag	p.E243*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517																																							uc003fgz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(727-729)GAG>TAG		solute carrier family 7 (cationic amino acid							71.0	68.0	69.0					3																	170216488		2203	4300	6503	SO:0001587	stop_gained	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216488C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.727G>T	3.37:g.170216488C>A	ENSP00000231706:p.Glu243*					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.E243*	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	1043	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		243					B3KV33|Q9HCF9	Nonsense_Mutation	SNP	ENST00000231706.5	37	c.727G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	40	8.322243	0.98759	.	.	ENSG00000013293	ENST00000231706	.	.	.	5.99	5.99	0.97316	.	0.171146	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000231706:E243X	E	-	1	0	SLC7A14	171699182	0.999000	0.42202	0.933000	0.37362	0.857000	0.48899	4.787000	0.62432	2.840000	0.97914	0.655000	0.94253	GAG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		24	65	1	0	1.17739e-12	0.005443	1.6824e-12	24	65				
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:183667663C>A	ENST00000334444.6	-	22	3345	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1035	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L1035L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCTCCCGAATCAGGACCCTGG	0.557																																							uc003fmg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3103-3105)CTG>CTT		ATP-binding cassette, sub-family C, member 5							109.0	117.0	114.0					3																	183667663		2088	4220	6308	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667663C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3105G>T	3.37:g.183667663C>A						ABCC5_uc011bqt.1_Silent_p.L563L|ABCC5_uc010hxl.2_Intron	p.L1035L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3270	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1035			Helical; (Potential).|ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3105G>T	CCDS43176.1																																																																																				0.557	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		24	72	1	0	2.24059e-21	0.00632	3.67037e-21	24	72				
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:185341817A>T	ENST00000296257.5	+	15	1798	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	SENP2_ENST00000427465.2_Nonsense_Mutation_p.R344*|SENP2_ENST00000545472.1_Nonsense_Mutation_p.R510*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	520	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.R520*(2)|p.K520*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAGACCAAAAGAAATAGTGA	0.343																																							uc003fpn.2		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(1558-1560)AGA>TGA		SUMO1/sentrin/SMT3 specific protease 2							135.0	132.0	133.0					3																	185341817		2203	4300	6503	SO:0001587	stop_gained	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185341817A>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1558A>T	3.37:g.185341817A>T	ENSP00000296257:p.Arg520*					SENP2_uc011brv.1_Nonsense_Mutation_p.R510*|SENP2_uc011brw.1_Nonsense_Mutation_p.R333*	p.R520*	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		15	1729	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		520			Protease.		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Nonsense_Mutation	SNP	ENST00000296257.5	37	c.1558A>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334167	0.81801	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	.	.	.	5.34	4.18	0.49190	.	0.124941	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8179	8.9285	0.35655	0.9142:0.0:0.0858:0.0	.	.	.	.	X	510;520;391;344;183	.	ENSP00000296257:R520X	R	+	1	2	SENP2	186824511	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	6.185000	0.72013	0.874000	0.35823	-0.388000	0.06559	AGA		0.343	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		39	116	0	0	0	0.00874	0	39	116				
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:186335058G>C	ENST00000273784.5	+	4	571	c.495G>C	c.(493-495)gcG>gcC	p.A165A	AHSG_ENST00000411641.2_Silent_p.A164A	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.A164A(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACGCCGCGAAAGCTGCCC	0.592											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fqk.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(490-492)GCG>GCC		alpha-2-HS-glycoprotein							72.0	69.0	70.0					3																	186335058		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186335058G>C	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.495G>C	3.37:g.186335058G>C			OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2006	AHSG_uc003fqj.2_Silent_p.A164A|AHSG_uc003fql.3_Silent_p.A165A|AHSG_uc003fqm.3_Silent_p.A163A|AHSG_uc010hyp.2_Silent_p.A127A	p.A164A	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	4	573	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		164	PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).		Cystatin fetuin-A-type 2.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.492G>C																																																																																					0.592	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		25	119	0	0	0	0.004656	0	25	119				
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:194118069G>A	ENST00000401815.1	-	1	1014	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	GP5_ENST00000323007.3_Missense_Mutation_p.R315C			P40197	GPV_HUMAN	glycoprotein V (platelet)	315					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R315C(4)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCGCAGGCGGCTCAGGTTG	0.726																																							uc003ftv.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|breast(1)	3						c.(943-945)CGC>TGC		glycoprotein V (platelet) precursor							8.0	10.0	9.0					3																	194118069		1913	3954	5867	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118069G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.943C>T	3.37:g.194118069G>A	ENSP00000383931:p.Arg315Cys						p.R315C	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	974	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	315			Extracellular (Potential).		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.943C>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624605	0.28889	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.25579	1.79;1.79	3.95	-7.83	0.01201	.	0.909655	0.09045	N	0.856737	T	0.20251	0.0487	L	0.50847	1.595	0.09310	N	1	D	0.67145	0.996	B	0.43575	0.424	T	0.17379	-1.0371	10	0.52906	T	0.07	.	9.6771	0.40047	0.065:0.606:0.1553:0.1736	.	315	P40197	GPV_HUMAN	C	315	ENSP00000383931:R315C;ENSP00000319286:R315C	ENSP00000319286:R315C	R	-	1	0	GP5	195599358	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-1.182000	0.03082	-1.619000	0.01566	-0.519000	0.04390	CGC		0.726	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		6	15	0	0	0	0.001168	0	6	15				
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:3444869A>G	ENST00000382774.3	+	3	506	c.391A>G	c.(391-393)Aag>Gag	p.K131E	HGFAC_ENST00000511533.1_Missense_Mutation_p.K131E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	131	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K131E(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCACACAGGAAGTGGTGGGT	0.697																																							uc003ghc.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(391-393)AAG>GAG		HGF activator preproprotein							13.0	17.0	16.0					4																	3444869		2176	4264	6440	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3444869A>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.391A>G	4.37:g.3444869A>G	ENSP00000372224:p.Lys131Glu					HGFAC_uc010icw.2_Missense_Mutation_p.K131E	p.K131E	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	394	+			131			Fibronectin type-II.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.391A>G	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513239	0.27123	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.51071	0.72;0.72	2.47	2.47	0.30058	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.636429	0.14202	U	0.334635	T	0.41396	0.1157	L	0.47716	1.5	0.24776	N	0.992846	P;B	0.40578	0.722;0.07	B;B	0.42163	0.378;0.155	T	0.32375	-0.9909	10	0.66056	D	0.02	.	6.8698	0.24115	1.0:0.0:0.0:0.0	.	131;131	D6RAR4;Q04756	.;HGFA_HUMAN	E	131	ENSP00000372224:K131E;ENSP00000421801:K131E	ENSP00000372224:K131E	K	+	1	0	HGFAC	3414667	0.000000	0.05858	1.000000	0.80357	0.092000	0.18411	0.053000	0.14184	1.391000	0.46566	0.249000	0.18162	AAG		0.697	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			6	20	0	0	0	0.001168	0	6	20				
ACOX3	8310	broad.mit.edu	37	4	8418165	8418165	+	Silent	SNP	C	C	T	rs35092737	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:8418165C>T	ENST00000356406.5	-	2	161	c.84G>A	c.(82-84)gcG>gcA	p.A28A	ACOX3_ENST00000503233.1_Silent_p.A28A|ACOX3_ENST00000413009.2_Silent_p.A28A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	28					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A28A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGCTGAAGGACGCTCTTGCTC	0.607													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		17775	0.0		0.0	False		,,,				2504	0.0						uc010idk.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)GCG>GCA		acyl-Coenzyme A oxidase 3 isoform a		C	,	73,4333	66.4+/-103.9	2,69,2132	74.0	74.0	74.0		84,84	-7.2	0.1	4	dbSNP_126	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	2,69,6432	TT,TC,CC		0.0,1.6568,0.5613	,	28/625,28/701	8418165	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8418165C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.84G>A	4.37:g.8418165C>T						ACOX3_uc003glc.3_Silent_p.A28A|ACOX3_uc003gld.3_Silent_p.A28A|ACOX3_uc003gle.1_5'Flank	p.A28A	NM_003501	NP_003492	O15254	ACOX3_HUMAN			2	229	-			28					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.84G>A	CCDS3401.1																																																																																				0.607	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			16	132	0	0	0	0.004007	0	16	132				
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:22390178C>A	ENST00000334304.5	-	19	3385	c.3116G>T	c.(3115-3117)aGt>aTt	p.S1039I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1039					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.S1039I(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGAACGCACTGAAGCTTAA	0.463																																							uc003gqm.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(3115-3117)AGT>ATT		G protein-coupled receptor 125 precursor							105.0	96.0	99.0					4																	22390178		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390178C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3116G>T	4.37:g.22390178C>A	ENSP00000334952:p.Ser1039Ile					GPR125_uc010ieo.1_Missense_Mutation_p.S895I|GPR125_uc003gql.1_Missense_Mutation_p.S166I	p.S1039I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3381	-		Breast(46;0.198)	1039			Helical; Name=7; (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3116G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934813	0.73442	.	.	ENSG00000152990	ENST00000334304	T	0.43294	0.95	5.79	5.79	0.91817	GPCR, family 2-like (1);	0.137920	0.64402	D	0.000001	T	0.45816	0.1361	L	0.29908	0.895	0.80722	D	1	P;P	0.50819	0.831;0.939	B;P	0.49887	0.419;0.625	T	0.43861	-0.9365	10	0.87932	D	0	.	20.0256	0.97521	0.0:1.0:0.0:0.0	.	896;1039	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	1039	ENSP00000334952:S1039I	ENSP00000334952:S1039I	S	-	2	0	GPR125	21999276	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.736000	0.68597	2.737000	0.93849	0.650000	0.86243	AGT		0.463	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			53	77	1	0	5.73376e-24	0.00361	9.71462e-24	53	77				
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:39904046C>T	ENST00000303538.8	-	13	1959	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PDS5A_ENST00000503396.1_Missense_Mutation_p.V474I	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.V474I(4)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTGGGGGACAAGATACTGA	0.318																																							uc003guv.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1420-1422)GTC>ATC		PDS5, regulator of cohesion maintenance, homolog							109.0	104.0	106.0					4																	39904046		1821	4073	5894	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39904046C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1420G>A	4.37:g.39904046C>T	ENSP00000303427:p.Val474Ile					PDS5A_uc010ifo.2_Missense_Mutation_p.V434I|PDS5A_uc003guw.3_Missense_Mutation_p.V474I	p.V474I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			13	1960	-			474						Missense_Mutation	SNP	ENST00000303538.8	37	c.1420G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745254	0.69418	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.38649	1.16	0.80722	D	1	B;P	0.39862	0.234;0.692	B;P	0.47162	0.163;0.54	T	0.53514	-0.8428	8	.	.	.	-12.1012	19.313	0.94199	0.0:1.0:0.0:0.0	.	474;474	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	I	474	.	.	V	-	1	0	PDS5A	39580441	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.570000	0.86706	0.655000	0.94253	GTC		0.318	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		8	68	0	0	0	0.004482	0	8	68				
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55131116C>G	ENST00000257290.5	+	5	990	c.659C>G	c.(658-660)gCt>gGt	p.A220G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	220	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A220G(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAAATGGAAGCTCTTAAAACC	0.408			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		2	Substitution - Missense(2)		lung(2)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(658-660)GCT>GGT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						153.0	150.0	151.0					4																	55131116		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131116C>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.659C>G	4.37:g.55131116C>G	ENSP00000257290:p.Ala220Gly	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.A114G|PDGFRA_uc003ham.2_RNA	p.A220G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	990	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		220			Ig-like C2-type 3.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.659C>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613870	0.66672	.	.	ENSG00000134853	ENST00000257290	T	0.77358	-1.09	5.26	4.42	0.53409	Immunoglobulin-like (1);	0.594559	0.12587	U	0.455884	D	0.85948	0.5816	M	0.77313	2.365	0.80722	D	1	P;B	0.49090	0.919;0.411	P;B	0.58013	0.831;0.281	T	0.83052	-0.0152	10	0.39692	T	0.17	.	13.6901	0.62539	0.0:0.9255:0.0:0.0745	.	220;220	P16234-3;P16234	.;PGFRA_HUMAN	G	220	ENSP00000257290:A220G	ENSP00000257290:A220G	A	+	2	0	PDGFRA	54825873	0.998000	0.40836	0.571000	0.28486	0.964000	0.63967	4.400000	0.59709	1.232000	0.43678	0.491000	0.48974	GCT		0.408	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		88	122	0	0	0	0.00361	0	88	122				
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55961743C>A	ENST00000263923.4	-	20	3113		c.e20+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGACATACCTTGTAGGGG	0.413			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		2	Unknown(2)		lung(2)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.e20+1		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						117.0	116.0	116.0					4																	55961743		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961743C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2817+1G>T	4.37:g.55961743C>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Splice_Site_p.K939_splice	p.K939_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		20	3119	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)							A2RRS0|B5A925|C5IFA0|O60723|Q14178	Splice_Site	SNP	ENST00000263923.4	37	c.2817_splice	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423943	0.83667	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4447	0.99122	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDR	55656500	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.818000	0.86416	2.834000	0.97654	0.655000	0.94253	.		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Intron	10	49	1	0	3.27435e-08	0.00245	4.20279e-08	10	49				
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:68534382C>T	ENST00000322244.5	-	9	739	c.680G>A	c.(679-681)gGc>gAc	p.G227D	UBA6_ENST00000420827.2_Missense_Mutation_p.G227D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	227					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.G227D(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGTAACAATGCCAGGATTTGC	0.303																																							uc003hdg.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(679-681)GGC>GAC		ubiquitin-activating enzyme E1-like 2							97.0	92.0	94.0					4																	68534382		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68534382C>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.680G>A	4.37:g.68534382C>T	ENSP00000313454:p.Gly227Asp					UBA6_uc003hdi.2_Missense_Mutation_p.G227D|UBA6_uc003hdj.2_Missense_Mutation_p.G227D	p.G227D	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			9	732	-			227					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.680G>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.26660	1.72;1.72	5.54	5.54	0.83059	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.85130	0.997;0.944;0.965	T	0.75605	-0.3260	10	0.87932	D	0	-11.1385	19.0746	0.93156	0.0:1.0:0.0:0.0	.	227;227;227	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	D	227	ENSP00000313454:G227D;ENSP00000399234:G227D	ENSP00000313454:G227D	G	-	2	0	UBA6	68216977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.564000	0.73969	2.606000	0.88127	0.655000	0.94253	GGC		0.303	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	23	0	0	0	0.009096	0	4	23				
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:69535962G>T	ENST00000338206.5	-	1	384	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	125					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N125K(2)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TACAGAGCTTGTTACTGTAGT	0.328																																							uc011cal.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(373-375)AAC>AAA		UDP glycosyltransferase 2B15 precursor							103.0	113.0	109.0					4																	69535962		2203	4298	6501	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535962G>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.375C>A	4.37:g.69535962G>T	ENSP00000341045:p.Asn125Lys						p.N125K	NM_001076	NP_001067	P54855	UDB15_HUMAN			1	413	-			125					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.375C>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.023135	0.00414	.	.	ENSG00000196620	ENST00000338206	T	0.58652	0.32	2.79	-5.58	0.02512	.	2.341130	0.03876	U	0.276359	T	0.16981	0.0408	N	0.00327	-1.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35919	-0.9769	10	0.05351	T	0.99	.	7.1736	0.25732	0.0:0.5424:0.1611:0.2965	.	125	P54855	UDB15_HUMAN	K	125	ENSP00000341045:N125K	ENSP00000341045:N125K	N	-	3	2	UGT2B15	69218557	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.032000	0.03574	-1.638000	0.01529	-1.540000	0.00911	AAC		0.328	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		21	94	1	0	2.37509e-13	0.010504	3.46051e-13	21	94				
UGT2B27P	54569	broad.mit.edu	37	4	69879862	69879862	+	IGR	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:69879862T>A								UGT2A3 (62353 upstream) : UGT2B7 (37331 downstream)																							CTGTACAAACTCCTCCATTTG	0.408																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(766-768)GAG>GTG		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							152.0	112.0	124.0					4																	69879862		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69879862T>A																													4.37:g.69879862T>A						UGT2B10_uc011can.1_Missense_Mutation_p.E172V	p.E256V			P36537	UDB10_HUMAN			6	903	-			293						Missense_Mutation	SNP		37	c.767A>T																																																																																				0	0.408									24	90	0	0	0	0.002299	0	24	90				
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:71691024C>A	ENST00000254799.6	-	8	1499	c.1382G>T	c.(1381-1383)cGg>cTg	p.R461L	GRSF1_ENST00000502323.1_Missense_Mutation_p.R299L|GRSF1_ENST00000545193.1_Missense_Mutation_p.R343L|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.R299L	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	461	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R461L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AACGTGGGACCGATCCTTGAG	0.443																																							uc010iia.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1381-1383)CGG>CTG		G-rich RNA sequence binding factor 1 isoform 1							69.0	69.0	69.0					4																	71691024		2020	4197	6217	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691024C>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1382G>T	4.37:g.71691024C>A	ENSP00000254799:p.Arg461Leu					GRSF1_uc011caz.1_Missense_Mutation_p.R343L|GRSF1_uc003hfs.2_Missense_Mutation_p.R299L	p.R461L	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1465	-		all_hematologic(202;0.21)	461			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1382G>T	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.54|17.54	3.415173|3.415173	0.62511|0.62511	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.08193	.|3.12;3.12;3.12;3.12;3.12	5.97|5.97	4.26|4.26	0.50523|0.50523	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30696|0.30696	0.0773|0.0773	M|M	0.87758|0.87758	2.905|2.905	0.52099|0.52099	D|D	0.999943|0.999943	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.80764	.|0.994;0.991	T|T	0.04333|0.04333	-1.0959|-1.0959	5|10	.|0.87932	.|D	.|0	-6.6072|-6.6072	9.8651|9.8651	0.41138|0.41138	0.0:0.793:0.0:0.207|0.0:0.793:0.0:0.207	.|.	.|374;461	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	C|L	398|461;299;393;434;299;343	.|ENSP00000254799:R461L;ENSP00000389219:R299L;ENSP00000427354:R434L;ENSP00000425430:R299L;ENSP00000443380:R343L	.|ENSP00000254799:R461L	G|R	-|-	1|2	0|0	GRSF1|GRSF1	71909888|71909888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.563000|0.563000	0.35712|0.35712	2.795000|2.795000	0.47861|0.47861	0.864000|0.864000	0.35578|0.35578	-0.136000|-0.136000	0.14681|0.14681	GGT|CGG		0.443	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		24	28	1	0	1.42536e-11	0.004656	1.97948e-11	24	28				
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	T	rs200084669		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:72897911G>T	ENST00000308744.6	+	1	391	c.293G>T	c.(292-294)cGg>cTg	p.R98L	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622																																							uc003hgg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(292-294)CGG>CTG		neuropeptide FF receptor 2 isoform 1							24.0	29.0	27.0					4																	72897911		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897911G>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.293G>T	4.37:g.72897911G>T	ENSP00000307822:p.Arg98Leu					NPFFR2_uc010iig.1_5'UTR	p.R98L	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	391	+			98			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.293G>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355697	0.24598	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.77098	-1.07	2.81	-2.9	0.05648	.	.	.	.	.	T	0.49457	0.1558	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.27706	-1.0066	9	0.33141	T	0.24	.	0.3949	0.00417	0.2974:0.1979:0.3078:0.1969	.	98	Q9Y5X5	NPFF2_HUMAN	L	98	ENSP00000307822:R98L	ENSP00000307822:R98L	R	+	2	0	NPFFR2	73116775	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-3.211000	0.00556	-0.602000	0.05775	-0.802000	0.03209	CGG		0.622	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		19	13	1	0	1.22574e-08	0.002299	1.59051e-08	19	13				
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:79402985A>G	ENST00000264895.6	+	57	8911	c.8471A>G	c.(8470-8472)cAt>cGt	p.H2824R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2820	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.H2824R(2)|p.H2825R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTATCCGCCATGGTACTGAC	0.478																																							uc003hlb.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(5)	5						c.(8470-8472)CAT>CGT		Fraser syndrome 1							209.0	211.0	211.0					4																	79402985		1921	4122	6043	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79402985A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8471A>G	4.37:g.79402985A>G	ENSP00000264895:p.His2824Arg						p.H2824R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			57	8911	+			2819			Calx-beta 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8471A>G	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	2.862	-0.235884	0.05944	.	.	ENSG00000138759	ENST00000264895	T	0.27256	1.68	5.57	4.4	0.53042	.	0.120539	0.56097	D	0.000024	T	0.17238	0.0414	N	0.13272	0.32	0.80722	D	1	P	0.37781	0.608	B	0.44163	0.443	T	0.08066	-1.0740	10	0.13108	T	0.6	.	9.3326	0.38032	0.8598:0.0:0.1402:0.0	.	2824	E9PHH6	.	R	2824	ENSP00000264895:H2824R	ENSP00000264895:H2824R	H	+	2	0	FRAS1	79622009	1.000000	0.71417	0.981000	0.43875	0.357000	0.29423	5.302000	0.65733	0.888000	0.36160	-0.450000	0.05554	CAT		0.478	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				163	254	0	0	0	0.00361	0	163	254				
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:84516068G>T	ENST00000395226.2	+	8	1027	c.809G>T	c.(808-810)tGg>tTg	p.W270L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W270L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.W270L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTCATGTCTGGTTTGAACGC	0.438																																							uc003how.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(808-810)TGG>TTG		1-acylglycerol-3-phosphate O-acyltransferase 9							161.0	156.0	158.0					4																	84516068		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84516068G>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.809G>T	4.37:g.84516068G>T	ENSP00000378651:p.Trp270Leu					AGPAT9_uc003hox.2_Missense_Mutation_p.W270L|AGPAT9_uc003hoy.2_Missense_Mutation_p.W270L	p.W270L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN			8	1027	+		Hepatocellular(203;0.114)	270					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.809G>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402082	0.83120	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.93019	-3.15;-3.15	5.81	4.97	0.65823	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	L	0.54323	1.7	0.80722	D	1	P	0.52842	0.956	P	0.53006	0.715	D	0.92283	0.5835	10	0.31617	T	0.26	-8.6882	14.9922	0.71396	0.0683:0.0:0.9317:0.0	.	270	Q53EU6	GPAT3_HUMAN	L	270	ENSP00000378651:W270L;ENSP00000264409:W270L	ENSP00000264409:W270L	W	+	2	0	AGPAT9	84735092	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.863000	0.87023	1.455000	0.47813	0.655000	0.94253	TGG		0.438	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		39	149	1	0	3.33393e-15	0.004878	5.06929e-15	39	149				
DMP1	1758	broad.mit.edu	37	4	88583970	88583970	+	Nonsense_Mutation	SNP	C	C	G	rs368389439		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:88583970C>G	ENST00000339673.6	+	6	1139	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Nonsense_Mutation_p.S331*|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	347					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.S347*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCCAACCTGTCATCTCAAGAG	0.522																																							uc003hqv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1039-1041)TCA>TGA		dentin matrix acidic phosphoprotein 1 isoform 1							119.0	116.0	117.0					4																	88583970		2203	4300	6503	SO:0001587	stop_gained	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583970C>G	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1040C>G	4.37:g.88583970C>G	ENSP00000340935:p.Ser347*					DMP1_uc003hqw.2_Nonsense_Mutation_p.S331*	p.S347*	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1144	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	347					A1L4L3|O43265	Nonsense_Mutation	SNP	ENST00000339673.6	37	c.1040C>G	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346341	0.41599	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	.	.	.	4.89	3.0	0.34707	.	1.045010	0.07533	N	0.912611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.3211	5.5875	0.17283	0.2842:0.6134:0.0:0.1023	.	.	.	.	X	347;331	.	ENSP00000282479:S331X	S	+	2	0	DMP1	88802994	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	1.186000	0.32078	1.277000	0.44412	0.655000	0.94253	TCA		0.522	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			5	219	0	0	0	0.000602	0	5	219				
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	C	T	rs34120296		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:113350384C>T	ENST00000458497.1	+	10	1154	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ALPK1_ENST00000177648.9_Missense_Mutation_p.T292M|ALPK1_ENST00000504176.2_Missense_Mutation_p.T214M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292			T -> M (in dbSNP:rs34120296). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T292M(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGCCTATACGCCGCTCTTC	0.557																																							uc003iap.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(874-876)ACG>ATG		alpha-kinase 1							107.0	111.0	110.0					4																	113350384		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113350384C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.875C>T	4.37:g.113350384C>T	ENSP00000398048:p.Thr292Met					ALPK1_uc003ian.3_Missense_Mutation_p.T292M|ALPK1_uc011cfx.1_Missense_Mutation_p.T214M|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.T120M	p.T292M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1154	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	292					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.875C>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749016	0.89753	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.30714	1.52;1.52;1.52	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.76838	2.35	0.47949	D	0.999553	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69307	0.963;0.941;0.92	T	0.63120	-0.6708	10	0.87932	D	0	-17.349	19.1797	0.93617	0.0:1.0:0.0:0.0	rs34120296	214;214;292	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	M	292;292;214	ENSP00000398048:T292M;ENSP00000177648:T292M;ENSP00000426044:T214M	ENSP00000177648:T292M	T	+	2	0	ALPK1	113569833	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	6.348000	0.73009	2.535000	0.85469	0.655000	0.94253	ACG		0.557	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		42	110	0	0	0	0.00361	0	42	110				
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114153332T>A	ENST00000357077.4	+	5	453	c.400T>A	c.(400-402)Tta>Ata	p.L134I	ANK2_ENST00000394537.3_Missense_Mutation_p.L134I|ANK2_ENST00000506722.1_Missense_Mutation_p.L113I|ANK2_ENST00000264366.6_Missense_Mutation_p.L134I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	134					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L134I(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTACTCCTTTATACATGGC	0.393																																							uc003ibe.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(400-402)TTA>ATA		ankyrin 2 isoform 1							145.0	136.0	139.0					4																	114153332		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114153332T>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.400T>A	4.37:g.114153332T>A	ENSP00000349588:p.Leu134Ile					ANK2_uc003ibd.3_Missense_Mutation_p.L113I|ANK2_uc003ibf.3_Missense_Mutation_p.L134I|ANK2_uc003ibc.2_Missense_Mutation_p.L110I|ANK2_uc011cgb.1_Missense_Mutation_p.L149I	p.L134I	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	5	500	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	134			ANK 4.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.400T>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195606	0.78902	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000343056	T;D;T;T;T;D;D;D	0.90900	1.04;-2.75;-0.51;-0.51;-0.51;-1.7;-1.7;-1.7	5.35	2.9	0.33743	Ankyrin repeat-containing domain (4);	0.000000	0.34386	U	0.004016	D	0.93048	0.7787	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.993	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.99	D	0.92189	0.5758	10	0.72032	D	0.01	.	8.718	0.34423	0.0:0.2167:0.0:0.7833	.	134;134;134;113;113	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	113;113;113;149;134;134;134;149;113	ENSP00000423799:L113I;ENSP00000421011:L113I;ENSP00000421067:L113I;ENSP00000424722:L149I;ENSP00000378044:L134I;ENSP00000349588:L134I;ENSP00000264366:L134I;ENSP00000422900:L149I	ENSP00000264366:L134I	L	+	1	2	ANK2	114372781	0.993000	0.37304	0.990000	0.47175	0.997000	0.91878	2.542000	0.45744	0.978000	0.38470	0.533000	0.62120	TTA		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		50	95	0	0	0	0.00361	0	50	95				
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114274319C>G	ENST00000357077.4	+	38	4598	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1482M|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1515	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I1515M(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGATTTGATCAAAATGACCG	0.458																																							uc003ibe.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4543-4545)ATC>ATG		ankyrin 2 isoform 1							77.0	79.0	78.0					4																	114274319		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274319C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4545C>G	4.37:g.114274319C>G	ENSP00000349588:p.Ile1515Met					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1530M	p.I1515M	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4645	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1482					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4545C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373393	0.42105	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.83	4.98	0.66077	.	0.121154	0.37393	N	0.002104	T	0.39226	0.1070	L	0.41236	1.265	0.80722	D	1	D;D	0.63046	0.969;0.992	P;P	0.62014	0.73;0.897	T	0.19943	-1.0290	10	0.48119	T	0.1	.	7.5822	0.27972	0.0:0.7218:0.1399:0.1382	.	1482;1515	Q01484;Q01484-4	ANK2_HUMAN;.	M	1428;1530;1515;1482	ENSP00000421011:I1428M;ENSP00000424722:I1530M;ENSP00000349588:I1515M;ENSP00000264366:I1482M	ENSP00000264366:I1482M	I	+	3	3	ANK2	114493768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.731000	0.38135	1.441000	0.47550	0.650000	0.86243	ATC		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	89	0	0	0	0.002299	0	22	89				
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:123336740G>T	ENST00000296513.2	+	11	1641	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L	ADAD1_ENST00000388724.2_Missense_Mutation_p.V475L|ADAD1_ENST00000388725.2_Missense_Mutation_p.V468L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	486	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.V486L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGGAGATTGTGGATGGCCT	0.333																																							uc003ieo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1456-1458)GTG>TTG		adenosine deaminase domain containing 1							117.0	117.0	117.0					4																	123336740		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336740G>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1456G>T	4.37:g.123336740G>T	ENSP00000296513:p.Val486Leu					ADAD1_uc003iep.2_Missense_Mutation_p.V475L|ADAD1_uc003ieq.2_Missense_Mutation_p.V468L	p.V486L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			11	1688	+			486			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1456G>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347394	0.82022	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93247	-3.19;-3.19;-3.19	5.02	5.02	0.67125	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	L	0.49571	1.57	0.58432	D	0.999999	P;D	0.71674	0.47;0.998	P;D	0.75020	0.646;0.985	D	0.92568	0.6064	10	0.12766	T	0.61	-3.1659	18.3402	0.90303	0.0:0.0:1.0:0.0	.	475;486	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	486;475;468	ENSP00000296513:V486L;ENSP00000373376:V475L;ENSP00000373377:V468L	ENSP00000296513:V486L	V	+	1	0	ADAD1	123556190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.441000	0.90313	2.335000	0.79485	0.655000	0.94253	GTG		0.333	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		27	73	1	0	8.24728e-16	0.004656	1.2736e-15	27	73				
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:126337745G>C	ENST00000394329.3	+	6	6999	c.6986G>C	c.(6985-6987)cGc>cCc	p.R2329P	FAT4_ENST00000335110.5_Missense_Mutation_p.R627P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2329	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2329P(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAAGAGCGCTTTGTCTTA	0.428																																							uc003ifj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6985-6987)CGC>CCC		FAT tumor suppressor homolog 4 precursor							230.0	222.0	225.0					4																	126337745		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337745G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6986G>C	4.37:g.126337745G>C	ENSP00000377862:p.Arg2329Pro					FAT4_uc011cgp.1_Missense_Mutation_p.R627P	p.R2329P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			6	6986	+			2329			Extracellular (Potential).|Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6986G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	5.506	0.278398	0.10403	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.33	0.319	0.15873	Cadherin (4);Cadherin-like (1);	0.228719	0.21608	U	0.071821	T	0.04092	0.0114	M	0.80028	2.48	0.09310	N	1	B;B	0.30281	0.275;0.256	B;B	0.38264	0.269;0.156	T	0.18366	-1.0339	10	0.46703	T	0.11	.	8.8932	0.35446	0.6306:0.0:0.3694:0.0	.	627;2329	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	P	2329;627	ENSP00000377862:R2329P;ENSP00000335169:R627P	ENSP00000335169:R627P	R	+	2	0	FAT4	126557195	0.008000	0.16893	0.078000	0.20375	0.003000	0.03518	1.621000	0.36986	0.058000	0.16222	-0.994000	0.02522	CGC		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		46	161	0	0	0	0.002522	0	46	161				
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:128804445G>T	ENST00000270861.5	+	3	429	c.155G>T	c.(154-156)gGa>gTa	p.G52V	PLK4_ENST00000513090.1_Intron|PLK4_ENST00000515069.1_Missense_Mutation_p.G52V|PLK4_ENST00000514379.1_Missense_Mutation_p.G11V|PLK4_ENST00000507249.1_Missense_Mutation_p.G52V|PLK4_ENST00000511942.1_3'UTR	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G52V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACAAAGCAGGAATGGTACAG	0.313																																					Colon(135;508 1718 19061 31832 42879)	Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(154-156)GGA>GTA		polo-like kinase 4							72.0	72.0	72.0					4																	128804445		2203	4299	6502	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128804445G>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.155G>T	4.37:g.128804445G>T	ENSP00000270861:p.Gly52Val					PLK4_uc011cgs.1_Intron|PLK4_uc011cgt.1_Missense_Mutation_p.G11V	p.G52V	NM_014264	NP_055079	O00444	PLK4_HUMAN			3	400	+			52			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.155G>T	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957072	0.73902	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000507249;ENST00000514379	T;T;T;T	0.64085	-0.08;-0.08;-0.08;1.81	5.39	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.166828	0.52532	D	0.000065	T	0.66297	0.2775	N	0.21142	0.635	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.70324	-0.4903	10	0.87932	D	0	-9.2906	13.4976	0.61434	0.0748:0.0:0.9252:0.0	.	52	O00444	PLK4_HUMAN	V	52;52;52;11	ENSP00000270861:G52V;ENSP00000421774:G52V;ENSP00000423412:G52V;ENSP00000423582:G11V	ENSP00000270861:G52V	G	+	2	0	PLK4	129023895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.278000	0.65592	2.520000	0.84964	0.655000	0.94253	GGA		0.313	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			13	41	1	0	3.32936e-07	0.006122	4.12173e-07	13	41				
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:156629414A>G	ENST00000296518.7	+	5	553	c.344A>G	c.(343-345)gAa>gGa	p.E115G	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E115G|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E115G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	115					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.E115G(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGACTTTGAAAAAACAATT	0.279																																							uc003iov.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(343-345)GAA>GGA		guanylate cyclase 1, soluble, alpha 3 isoform A							45.0	51.0	49.0					4																	156629414		2203	4297	6500	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156629414A>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.344A>G	4.37:g.156629414A>G	ENSP00000296518:p.Glu115Gly					GUCY1A3_uc003iou.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iow.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iox.2_Missense_Mutation_p.E115G|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E115G	p.E115G	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	880	+	all_hematologic(180;0.24)	Renal(120;0.0854)	115					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.344A>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544283	0.86022	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.9	5.9	0.94986	Heme-NO binding (1);	0.000000	0.64402	D	0.000006	T	0.41143	0.1146	L	0.51422	1.61	0.43793	D	0.996335	B;B;B	0.29270	0.24;0.24;0.24	B;B;B	0.33960	0.173;0.173;0.173	T	0.20773	-1.0265	10	0.26408	T	0.33	.	14.6076	0.68493	1.0:0.0:0.0:0.0	.	115;115;115	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	G	115	ENSP00000424361:E115G;ENSP00000421493:E115G;ENSP00000426968:E115G;ENSP00000412201:E115G;ENSP00000296518:E115G;ENSP00000426040:E115G	ENSP00000296518:E115G	E	+	2	0	GUCY1A3	156848864	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.735000	0.68587	2.273000	0.75805	0.451000	0.29950	GAA		0.279	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			16	40	0	0	0	0.00499	0	16	40				
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:159052134C>G	ENST00000296530.8	-	4	1777	c.1156G>C	c.(1156-1158)Gga>Cga	p.G386R	FAM198B_ENST00000585682.1_Missense_Mutation_p.G386R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G394R|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	386						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G386R(2)|p.G394R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGTCTGAATCCACAGCAATTT	0.398																																							uc003ipp.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1156-1158)GGA>CGA		hypothetical protein LOC51313 isoform 2							97.0	88.0	91.0					4																	159052134		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159052134C>G		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1156G>C	4.37:g.159052134C>G	ENSP00000296530:p.Gly386Arg					FAM198B_uc003ipq.3_Missense_Mutation_p.G394R|FAM198B_uc003ipr.3_Missense_Mutation_p.G386R	p.G386R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			4	1608	-			386			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.1156G>C	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014823	0.93404	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.59502	0.26;0.26	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80772	-0.1233	10	0.87932	D	0	-16.5091	19.9823	0.97331	0.0:1.0:0.0:0.0	.	394;386	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	R	386;386;394;92	ENSP00000296530:G386R;ENSP00000377396:G394R	ENSP00000296530:G386R	G	-	1	0	FAM198B	159271584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.191000	0.77763	2.788000	0.95919	0.650000	0.86243	GGA		0.398	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		11	52	0	0	0	0.001368	0	11	52				
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:164394019G>T	ENST00000280605.3	-	1	1028	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.P290T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCGATTTTGGTATGAGATTC	0.408																																							uc003iqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(868-870)CCA>ACA		transketolase-like 2							170.0	171.0	171.0					4																	164394019		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394019G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.868C>A	4.37:g.164394019G>T	ENSP00000280605:p.Pro290Thr						p.P290T	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1029	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	290					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.868C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789188	0.16258	.	.	ENSG00000151005	ENST00000280605	D	0.89875	-2.58	4.3	0.255	0.15561	.	0.334384	0.31438	N	0.007643	D	0.85186	0.5639	L	0.34521	1.04	0.22693	N	0.998844	P	0.35307	0.494	P	0.48982	0.597	T	0.76451	-0.2954	10	0.62326	D	0.03	-0.6966	3.6594	0.08233	0.0978:0.2938:0.4577:0.1507	.	290	Q9H0I9	TKTL2_HUMAN	T	290	ENSP00000280605:P290T	ENSP00000280605:P290T	P	-	1	0	TKTL2	164613469	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	3.299000	0.51826	0.002000	0.14630	-0.345000	0.07892	CCA		0.408	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		114	403	1	0	1.66084e-67	0.00361	3.15665e-67	114	403				
MSMO1	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:166258949A>T	ENST00000261507.6	+	3	437	c.264A>T	c.(262-264)ccA>ccT	p.P88P	MSMO1_ENST00000393766.2_5'UTR|MSMO1_ENST00000504317.1_Silent_p.P88P	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	88					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)	p.P88P(2)									AGGATAAGCCAGAGACATGGG	0.343																																							uc003ire.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(262-264)CCA>CCT		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						123.0	126.0	125.0					4																	166258949		2203	4300	6503	SO:0001819	synonymous_variant	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166258949A>T	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.264A>T	4.37:g.166258949A>T						SC4MOL_uc010irb.2_Silent_p.P88P|SC4MOL_uc003irf.2_5'UTR	p.P88P	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	3	394	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	88					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Silent	SNP	ENST00000261507.6	37	c.264A>T	CCDS3809.1																																																																																				0.343	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		6	47	0	0	0	0.001984	0	6	47				
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:176573023A>T	ENST00000280187.7	-	5	548	c.503T>A	c.(502-504)gTg>gAg	p.V168E	GPM6A_ENST00000515090.1_Missense_Mutation_p.V161E|GPM6A_ENST00000506894.1_Missense_Mutation_p.V157E|GPM6A_ENST00000393658.2_Missense_Mutation_p.V168E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	168					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.V168E(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGCTCCCTCCACTAATGTGGT	0.458																																							uc003iuf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(502-504)GTG>GAG		glycoprotein M6A isoform 2							142.0	131.0	135.0					4																	176573023		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176573023A>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.503T>A	4.37:g.176573023A>T	ENSP00000280187:p.Val168Glu					GPM6A_uc011ckj.1_Missense_Mutation_p.V161E|GPM6A_uc003iug.2_Missense_Mutation_p.V168E|GPM6A_uc003iuh.2_Missense_Mutation_p.V157E	p.V168E	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	1307	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	168			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.503T>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670786	0.67814	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520	D;D;D;D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-4.84	5.62	5.62	0.85841	.	0.113979	0.64402	D	0.000011	D	0.97776	0.9270	N	0.14661	0.345	0.80722	D	1	P;P;B	0.43542	0.81;0.81;0.317	P;P;B	0.49887	0.625;0.503;0.376	D	0.98372	1.0554	10	0.30854	T	0.27	-10.903	16.1323	0.81449	1.0:0.0:0.0:0.0	.	161;157;168	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	E	168;168;157;161;160;105;105;105	ENSP00000280187:V168E;ENSP00000377268:V168E;ENSP00000421578:V157E;ENSP00000423984:V161E;ENSP00000422959:V160E;ENSP00000426984:V105E;ENSP00000426821:V105E;ENSP00000424075:V105E	ENSP00000280187:V168E	V	-	2	0	GPM6A	176810017	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	5.877000	0.69675	2.277000	0.76020	0.528000	0.53228	GTG		0.458	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			11	48	0	0	0	0.001855	0	11	48				
TENM3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183651436C>A	ENST00000511685.1	+	15	2792	c.2669C>A	c.(2668-2670)cCa>cAa	p.P890Q	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P890Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	890					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P890Q(2)									TTCCATTACCCAGAATATGGA	0.418																																							uc003ivd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2668-2670)CCA>CAA		odz, odd Oz/ten-m homolog 3							132.0	123.0	125.0					4																	183651436		1867	4100	5967	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183651436C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2669C>A	4.37:g.183651436C>A	ENSP00000424226:p.Pro890Gln					ODZ3_uc003ive.1_Missense_Mutation_p.P296Q	p.P890Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	14	2706	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	890			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.2669C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183101	0.78677	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.13657	2.57;2.57	4.92	4.92	0.64577	Carboxypeptidase-like, regulatory domain (1);	.	.	.	.	T	0.43897	0.1268	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50701	-0.8797	9	0.87932	D	0	.	18.2968	0.90148	0.0:1.0:0.0:0.0	.	890	Q9P273	TEN3_HUMAN	Q	890	ENSP00000424226:P890Q;ENSP00000385276:P890Q	ENSP00000385276:P890Q	P	+	2	0	ODZ3	183888430	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	5.898000	0.69838	2.540000	0.85666	0.655000	0.94253	CCA		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	62	1	0	3.86212e-05	0.008291	4.4043e-05	10	62				
TENM3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183664485G>T	ENST00000511685.1	+	19	3665	c.3542G>T	c.(3541-3543)gGg>gTg	p.G1181V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1181V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1181					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G1181V(2)									CTAGCTTGTGGGATCGATGGC	0.507																																							uc003ivd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3541-3543)GGG>GTG		odz, odd Oz/ten-m homolog 3							99.0	103.0	101.0					4																	183664485		2031	4188	6219	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183664485G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3542G>T	4.37:g.183664485G>T	ENSP00000424226:p.Gly1181Val					ODZ3_uc003ive.1_Missense_Mutation_p.G587V	p.G1181V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	18	3579	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1181			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3542G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115909	0.56505	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90324	-2.65;-2.65	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.95207	0.8446	M	0.89601	3.045	0.80722	D	1	D	0.64830	0.994	P	0.53861	0.736	D	0.95696	0.8745	9	0.87932	D	0	.	19.5617	0.95375	0.0:0.0:1.0:0.0	.	1181	Q9P273	TEN3_HUMAN	V	1181	ENSP00000424226:G1181V;ENSP00000385276:G1181V	ENSP00000385276:G1181V	G	+	2	0	ODZ3	183901479	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	7.654000	0.83653	2.859000	0.98148	0.591000	0.81541	GGG		0.507	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			13	35	1	0	1.5842e-08	0.001855	2.04669e-08	13	35				
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:187538952C>A	ENST00000441802.2	-	10	8997	c.8788G>T	c.(8788-8790)Gat>Tat	p.D2930Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2930	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2933Y(2)|p.D2930Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGGGGTCATCCTCACTCACA	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8788-8790)GAT>TAT		FAT tumor suppressor 1 precursor							125.0	123.0	123.0					4																	187538952		1970	4134	6104	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538952C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8788G>T	4.37:g.187538952C>A	ENSP00000406229:p.Asp2930Tyr	HNSCC(5;0.00058)					p.D2930Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8976	-			2930			Extracellular (Potential).|Cadherin 27.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8788G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799750	0.70567	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.63096	-0.02	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.049269	0.85682	D	0.000000	T	0.81503	0.4836	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84066	0.0377	10	0.87932	D	0	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	2930	Q14517	FAT1_HUMAN	Y	2930;2932	ENSP00000406229:D2930Y	ENSP00000260147:D2932Y	D	-	1	0	FAT1	187775946	1.000000	0.71417	0.980000	0.43619	0.760000	0.43138	7.609000	0.82925	2.740000	0.93945	0.650000	0.86243	GAT		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	106	1	0	6.4771e-29	0.002522	1.12968e-28	35	106				
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	G	A	rs111334085	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:434430G>A	ENST00000505113.1	+	11	1631	c.1587G>A	c.(1585-1587)ccG>ccA	p.P529P	AHRR_ENST00000512529.1_Silent_p.P375P|AHRR_ENST00000316418.5_Silent_p.P547P|AHRR_ENST00000506456.1_Silent_p.P385P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	529					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.P543P(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTGTGGTCCGACGCTGCTGC	0.622													G|||	10	0.00199681	0.0038	0.0	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.0051						uc003jav.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(1639-1641)CCG>CCA		arylhydrocarbon receptor repressor		G	,	28,4378	33.5+/-64.1	0,28,2175	75.0	85.0	82.0		1587,1641	-3.7	0.0	5	dbSNP_132	82	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,28,6474	AA,AG,GG		0.0,0.6355,0.2153	,	529/702,547/720	434430	28,12976	2203	4299	6502	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434430G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1587G>A	5.37:g.434430G>A						AHRR_uc003jaw.2_Silent_p.P525P|AHRR_uc010isy.2_Silent_p.P375P|AHRR_uc010isz.2_Silent_p.P525P|AHRR_uc003jax.2_Silent_p.P288P|AHRR_uc003jay.2_Silent_p.P385P|AHRR_uc003jaz.2_Silent_p.P146P	p.P547P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1685	+			529					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1641G>A	CCDS56355.1																																																																																				0.622	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		18	76	0	0	0	0.007413	0	18	76				
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612																																							uc003jbe.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1243-1245)CGC>CGT		solute carrier family 9 (sodium/hydrogen		G		2,4402	4.2+/-10.8	0,2,2200	45.0	45.0	45.0		1245	-8.3	0.4	5	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		415/835	482774	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482774G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1245C>T	5.37:g.482774G>A						SLC9A3_uc011clx.1_Silent_p.R415R	p.R415R	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1357	-			415					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1245C>T	CCDS3855.1																																																																																				0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		7	62	0	0	0	0.001984	0	7	62				
ICE1	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:5461293G>T	ENST00000296564.7	+	13	2068	c.1846G>T	c.(1846-1848)Ggt>Tgt	p.G616C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		616					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.G616C(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATGACTCAGGTGATGGAAT	0.418																																							uc003jdm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1846-1848)GGT>TGT		hypothetical protein LOC23379							108.0	108.0	108.0					5																	5461293		1909	4128	6037	SO:0001583	missense	23379							g.chr5:5461293G>T																												ENST00000296564.7:c.1846G>T	5.37:g.5461293G>T	ENSP00000296564:p.Gly616Cys						p.G616C	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	2068	+			616					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1846G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968469	0.34754	.	.	ENSG00000164151	ENST00000296564	T	0.10763	2.84	4.58	2.53	0.30540	.	1.217400	0.05927	N	0.634439	T	0.15565	0.0375	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.27905	-1.0060	10	0.49607	T	0.09	-8.1299	6.6529	0.22971	0.1224:0.1963:0.6812:0.0	.	616	Q9Y2F5	K0947_HUMAN	C	616	ENSP00000296564:G616C	ENSP00000296564:G616C	G	+	1	0	KIAA0947	5514293	0.001000	0.12720	0.001000	0.08648	0.068000	0.16541	0.717000	0.25851	0.859000	0.35456	0.305000	0.20034	GGT		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			44	130	1	0	1.03325e-14	0.002852	1.55907e-14	44	130				
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:13820609C>A	ENST00000265104.4	-	41	6792		c.e41-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCTTCAACCTGAAAACATA	0.507									Kartagener syndrome																														uc003jfd.2		NA																	2	Unknown(2)		lung(2)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e41-1		dynein, axonemal, heavy chain 5							76.0	72.0	73.0					5																	13820609		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13820609C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6688-1G>T	5.37:g.13820609C>A							p.V2230_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			41	6730	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.6688_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799688	0.90538	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4023	0.94635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13873609	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.871000	0.69628	2.579000	0.87056	0.650000	0.86243	.		0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	27	85	1	0	1.7881e-09	0.008361	2.35632e-09	27	85				
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:14461326A>G	ENST00000344204.4	+	35	5426	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.K1801R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1801					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1801R(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAAGCACAAGAAGAGCCGC	0.706																																							uc003jff.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(5401-5403)AAG>AGG		triple functional domain (PTPRF interacting)							7.0	7.0	7.0					5																	14461326		2080	4117	6197	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14461326A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5402A>G	5.37:g.14461326A>G	ENSP00000339299:p.Lys1801Arg					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.K1450R|TRIO_uc003jfi.1_Missense_Mutation_p.K104R	p.K1801R	NM_007118	NP_009049	O75962	TRIO_HUMAN			35	5408	+	Lung NSC(4;0.000742)		1801					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5402A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217855	0.79352	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.69806	-0.43;-0.41	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.69823	2.125	0.58432	D	0.999999	D;D;P	0.67145	0.996;0.98;0.816	P;P;B	0.54759	0.76;0.674;0.225	T	0.77429	-0.2591	10	0.45353	T	0.12	.	15.3604	0.74469	1.0:0.0:0.0:0.0	.	1801;1801;1801	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	R	1801;1801;1488	ENSP00000339299:K1801R;ENSP00000446348:K1801R	ENSP00000339299:K1801R	K	+	2	0	TRIO	14514326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.190000	0.94934	2.019000	0.59389	0.533000	0.62120	AAG		0.706	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	6	0	0	0	0.009096	0	3	6				
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:31323317G>T	ENST00000265071.2	+	12	2540	c.2275G>T	c.(2275-2277)Gat>Tat	p.D759Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	759					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.D759Y(2)		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						AGTGACCACGGATGCAGATCA	0.537																																							uc003jhe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|large_intestine(1)	7						c.(2275-2277)GAT>TAT		cadherin 6, type 2 preproprotein							67.0	60.0	63.0					5																	31323317		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323317G>T	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.2275G>T	5.37:g.31323317G>T	ENSP00000265071:p.Asp759Tyr						p.D759Y	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2601	+			759			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2275G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895450	0.91962	.	.	ENSG00000113361	ENST00000265071	T	0.79141	-1.24	5.55	5.55	0.83447	Cadherin, cytoplasmic domain (1);	0.189047	0.56097	D	0.000025	D	0.91310	0.7260	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92716	0.6187	10	0.87932	D	0	.	19.8741	0.96863	0.0:0.0:1.0:0.0	.	759	P55285	CADH6_HUMAN	Y	759	ENSP00000265071:D759Y	ENSP00000265071:D759Y	D	+	1	0	CDH6	31359074	1.000000	0.71417	0.960000	0.40013	0.933000	0.57130	9.809000	0.99208	2.761000	0.94854	0.655000	0.94253	GAT		0.537	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		28	115	1	0	9.39395e-14	0.00632	1.38229e-13	28	115				
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33937086C>A	ENST00000330120.3	+	1	596	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687																																							uc003jic.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(241-243)CGG>AGG		relaxin/insulin-like family peptide receptor 3							56.0	62.0	60.0					5																	33937086		2203	4299	6502	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937086C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.241C>A	5.37:g.33937086C>A							p.R81R	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	598	+			81			Extracellular (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.241C>A	CCDS3900.1																																																																																				0.687	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		15	63	1	0	2.31682e-05	0.003163	2.67291e-05	15	63				
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33989433T>A	ENST00000335606.6	-	5	1002	c.914A>T	c.(913-915)cAt>cTt	p.H305L	AMACR_ENST00000502637.1_Missense_Mutation_p.H290L|AMACR_ENST00000382085.3_Missense_Mutation_p.H305L|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	305					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.H305L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGATCATGATGAACAACCTC	0.532																																							uc003jig.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(913-915)CAT>CTT		alpha-methylacyl-CoA racemase isoform 1							99.0	92.0	95.0					5																	33989433		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989433T>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.914A>T	5.37:g.33989433T>A	ENSP00000334424:p.His305Leu					AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.H290L|AMACR_uc003jij.2_Missense_Mutation_p.H305L	p.H305L	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			5	996	-			305					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.914A>T	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	T	3.057	-0.194127	0.06259	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.51071	0.72;0.72;0.72	5.6	-2.25	0.06888	CoA-transferase family III domain (1);	0.313610	0.34411	N	0.003981	T	0.19967	0.0480	N	0.16233	0.39	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.04017	-1.0984	10	0.27785	T	0.31	-7.6442	0.0603	0.00015	0.2791:0.2358:0.198:0.2872	.	305;290;305	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	L	305;305;290	ENSP00000334424:H305L;ENSP00000371517:H305L;ENSP00000424351:H290L	ENSP00000334424:H305L	H	-	2	0	AMACR	34025190	0.028000	0.19301	0.000000	0.03702	0.004000	0.04260	0.298000	0.19120	-0.075000	0.12798	-1.038000	0.02383	CAT		0.532	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		44	84	0	0	0	0.002852	0	44	84				
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35084585G>C	ENST00000382002.5	-	5	786	c.360C>G	c.(358-360)gaC>gaG	p.D120E	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000231423.3_Missense_Mutation_p.D120E|PRLR_ENST00000348262.3_Missense_Mutation_p.D120E|PRLR_ENST00000542609.1_Missense_Mutation_p.D120E|PRLR_ENST00000397391.3_Missense_Mutation_p.D49E|PRLR_ENST00000310101.5_Missense_Mutation_p.D120E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.D120E|PRLR_ENST00000342362.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	120	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.D120E(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGTAAGTCACGTCCACATAAA	0.438																																							uc003jjm.2		NA																	2	Substitution - Missense(2)	p.D120G(1)	lung(2)	ovary(2)|skin(1)	3						c.(358-360)GAC>GAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						215.0	201.0	206.0					5																	35084585		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084585G>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.360C>G	5.37:g.35084585G>C	ENSP00000371432:p.Asp120Glu					PRLR_uc003jjg.1_Missense_Mutation_p.D120E|PRLR_uc003jjh.1_Missense_Mutation_p.D120E|PRLR_uc003jji.1_Missense_Mutation_p.D49E|PRLR_uc003jjj.1_Missense_Mutation_p.D120E|PRLR_uc003jjk.1_Missense_Mutation_p.D49E|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Missense_Mutation_p.D49E	p.D120E	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	890	-	all_lung(31;3.83e-05)		120			Fibronectin type-III 1.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.360C>G	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526561	0.64860	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;1.5;-0.5;-0.5;-0.5;-0.5	5.68	-1.22	0.09494	Fibronectin, type III (2);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.76328	2.33	0.80722	D	1	P;D;D;D;P;D	0.69078	0.889;0.997;0.996;0.958;0.932;0.991	P;D;P;P;P;P	0.66084	0.536;0.941;0.886;0.735;0.73;0.73	T	0.73164	-0.4069	10	0.49607	T	0.09	-16.75	7.7352	0.28810	0.7563:0.1063:0.1374:0.0	.	120;120;49;120;120;120	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	E	120;120;120;49;120;120;120;120	ENSP00000231423:D120E;ENSP00000424841:D120E;ENSP00000311613:D120E;ENSP00000380546:D49E;ENSP00000441813:D120E;ENSP00000371432:D120E;ENSP00000309008:D120E;ENSP00000423493:D120E	ENSP00000231423:D120E	D	-	3	2	PRLR	35120342	0.975000	0.34042	0.991000	0.47740	0.795000	0.44927	0.203000	0.17315	-0.454000	0.07066	-0.140000	0.14226	GAC		0.438	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			70	272	0	0	0	0.00361	0	70	272				
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	T	rs202194656		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:36677103G>T	ENST00000265113.4	+	6	1153	c.677G>T	c.(676-678)cGa>cTa	p.R226L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R226Q(2)|p.R226L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCTTACCCGAATCACAGAG	0.488																																							uc003jkj.3		NA																	4	Substitution - Missense(4)		lung(3)|endometrium(1)		0						c.(676-678)CGA>CTA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						135.0	123.0	127.0					5																	36677103		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677103G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.677G>T	5.37:g.36677103G>T	ENSP00000265113:p.Arg226Leu					SLC1A3_uc011cox.1_Missense_Mutation_p.R119L|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226L	p.R226L	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1153	+	all_lung(31;0.000245)		226			Extracellular (Potential).		B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.677G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	7.961	0.747028	0.15710	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.55413	0.52;0.53	5.92	1.09	0.20402	.	0.544777	0.21368	N	0.075688	T	0.26268	0.0641	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13791	-1.0496	10	0.38643	T	0.18	-7.1884	6.8028	0.23760	0.4362:0.0:0.4553:0.1085	.	226;226	Q4JCQ8;P43003	.;EAA1_HUMAN	L	226;174;226	ENSP00000265113:R226L;ENSP00000371343:R226L	ENSP00000265113:R226L	R	+	2	0	SLC1A3	36712860	0.001000	0.12720	0.048000	0.18961	0.084000	0.17831	0.514000	0.22786	0.129000	0.18514	-0.140000	0.14226	CGA		0.488	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		16	58	1	0	3.45872e-05	0.004007	3.98256e-05	16	58				
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:37341209C>A	ENST00000231498.3	-	11	1432	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	NUP155_ENST00000381843.2_Missense_Mutation_p.R351I|NUP155_ENST00000513532.1_Missense_Mutation_p.R410I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	410					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R410I(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAGAGCTCTATGTACTTT	0.353																																							uc003jku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1228-1230)AGA>ATA		nucleoporin 155kDa isoform 1							67.0	65.0	65.0					5																	37341209		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37341209C>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1229G>T	5.37:g.37341209C>A	ENSP00000231498:p.Arg410Ile					NUP155_uc003jkt.1_Missense_Mutation_p.R351I|NUP155_uc010iuz.1_Missense_Mutation_p.R410I	p.R410I	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1347	-	all_lung(31;0.000137)		410					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.1229G>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326385	0.41197	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.43294	0.95;0.95;0.95	5.43	3.03	0.35002	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.188086	0.56097	D	0.000029	T	0.18467	0.0443	N	0.08118	0	0.49687	D	0.999814	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.05146	-1.0903	10	0.17832	T	0.49	-0.83	6.1799	0.20465	0.0:0.3822:0.0:0.6178	.	410;410	E9PF10;O75694	.;NU155_HUMAN	I	410;351;372;410	ENSP00000231498:R410I;ENSP00000371265:R351I;ENSP00000422019:R410I	ENSP00000231498:R410I	R	-	2	0	NUP155	37376966	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.759000	0.47573	1.002000	0.39104	-0.469000	0.05056	AGA		0.353	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		21	80	1	0	1.55795e-14	0.001882	2.32711e-14	21	80				
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:52211398G>T	ENST00000282588.6	+	15	2420	c.1962G>T	c.(1960-1962)ggG>ggT	p.G654G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.G654G(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACTATTGGGGGCCTTGGTG	0.463																																							uc003jou.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(1960-1962)GGG>GGT		integrin, alpha 1 precursor							206.0	207.0	206.0					5																	52211398		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211398G>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1962G>T	5.37:g.52211398G>T						ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.G185G	p.G654G	NM_181501	NP_852478	P56199	ITA1_HUMAN			15	2014	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	654			Extracellular (Potential).|FG-GAP 7.		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.1962G>T	CCDS3955.1																																																																																				0.463	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		82	138	1	0	3.59392e-34	0.00361	6.45817e-34	82	138				
ADAMTS6	11174	broad.mit.edu	37	5	64569202	64569202	+	IGR	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:64569202C>A								ADAMTS6 (74610 upstream) : ADAMTS6 (23832 downstream)														p.G529W(1)									CACAGTGTCCCCTCAGCTGCT	0.423																																							uc003jtp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							188.0	193.0	191.0					5																	64569202		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64569202C>A																													5.37:g.64569202C>A						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G150W	p.G529W	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	12	2399	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	529			Disintegrin.			Missense_Mutation	SNP		37	c.1585G>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.573174	0.86542	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.72167	-0.63;-0.63	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91770	0.5427	10	0.87932	D	0	.	19.4213	0.94723	0.0:1.0:0.0:0.0	.	529;529	D6R9L6;Q9UKP5	.;ATS6_HUMAN	W	529;479;529	ENSP00000370443:G529W;ENSP00000423551:G529W	ENSP00000261306:G479W	G	-	1	0	ADAMTS6	64604958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.675000	0.91044	0.650000	0.86243	GGG	0	0.423									46	177	1	0	6.31075e-24	0.00361	1.06618e-23	46	177				
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:72383455G>A	ENST00000430046.2	+	25	2401	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G762E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G729E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	762	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.G762E(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CTTTCAGAAGGACCTAGTAAA	0.423																																							uc003kcl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2284-2286)GGA>GAA		FCH domain only 2 isoform a							92.0	88.0	89.0					5																	72383455		1830	4080	5910	SO:0001583	missense	115548							g.chr5:72383455G>A	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2285G>A	5.37:g.72383455G>A	ENSP00000393776:p.Gly762Glu					FCHO2_uc011csl.1_Missense_Mutation_p.G729E|FCHO2_uc010izb.2_Missense_Mutation_p.G190E|FCHO2_uc011csn.1_Missense_Mutation_p.G190E	p.G762E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	25	2401	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	762					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.2285G>A	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575105	0.86542	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.18502	2.21;2.21;2.21	4.67	4.67	0.58626	Muniscin C-terminal mu homology domain (1);	0.116367	0.56097	D	0.000025	T	0.49236	0.1545	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.965	D;D	0.85130	0.997;0.928	T	0.58775	-0.7577	10	0.87932	D	0	-17.2261	18.1271	0.89589	0.0:0.0:1.0:0.0	.	729;762	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	E	762;762;729	ENSP00000393776:G762E;ENSP00000344034:G762E;ENSP00000427296:G729E	ENSP00000344034:G762E	G	+	2	0	FCHO2	72419211	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	9.203000	0.95033	2.573000	0.86826	0.650000	0.86243	GGA		0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		16	57	0	0	0	0.003163	0	16	57				
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:79373964C>G	ENST00000350881.2	+	17	2369	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L636V	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	727					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L727V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGTCACCCTGACCGACTT	0.587																																							uc003kgh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2179-2181)CTG>GTG		thrombospondin 4 precursor							95.0	75.0	82.0					5																	79373964		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79373964C>G		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2179C>G	5.37:g.79373964C>G	ENSP00000339730:p.Leu727Val					uc003kgi.3_Intron	p.L727V	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	18	2502	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	727			TSP type-3 8.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2179C>G	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393164	0.62066	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86865	-2.07;-2.18	5.23	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.80183	2.485	0.58432	D	0.999996	P	0.49253	0.921	D	0.77004	0.989	D	0.90683	0.4607	10	0.28530	T	0.3	-19.9075	10.6351	0.45560	0.0:0.8315:0.0:0.1685	.	727	P35443	TSP4_HUMAN	V	727;636	ENSP00000339730:L727V;ENSP00000422298:L636V	ENSP00000339730:L727V	L	+	1	2	THBS4	79409720	0.858000	0.29795	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	1.477000	0.48234	0.655000	0.94253	CTG		0.587	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	51	0	0	0	0.000602	0	5	51				
VCAN	1462	broad.mit.edu	37	5	82785999	82785999	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:82785999T>A	ENST00000265077.3	+	3	718	c.153T>A	c.(151-153)acT>acA	p.T51T	VCAN_ENST00000343200.5_Silent_p.T51T|VCAN_ENST00000512590.2_Silent_p.T3T|VCAN_ENST00000502527.2_Silent_p.T51T|VCAN_ENST00000513984.1_Silent_p.T51T|VCAN_ENST00000342785.4_Silent_p.T51T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	51	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T51T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGATGCCTACTTTGCCACCCA	0.438																																							uc003kii.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(151-153)ACT>ACA		versican isoform 1 precursor							86.0	83.0	84.0					5																	82785999		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82785999T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.153T>A	5.37:g.82785999T>A						VCAN_uc003kij.3_Silent_p.T51T|VCAN_uc010jau.2_Silent_p.T51T|VCAN_uc003kik.3_Silent_p.T51T|VCAN_uc003kih.3_Silent_p.T51T	p.T51T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	509	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	51			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.153T>A	CCDS4060.1																																																																																				0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	191	0	0	0	0.006214	0	9	191				
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:108281839G>T	ENST00000281092.4	+	11	1629	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	FER_ENST00000438717.2_Missense_Mutation_p.K240N|FER_ENST00000536402.1_Missense_Mutation_p.R311M	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.K415N(2)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGAAAGAAAGGAGAGGCTAT	0.373																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1243-1245)AAG>AAT		fer (fps/fes related) tyrosine kinase							112.0	116.0	115.0					5																	108281839		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108281839G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1245G>T	5.37:g.108281839G>T	ENSP00000281092:p.Lys415Asn					FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.K240N	p.K415N	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	11	1629	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	415					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1245G>T	CCDS4098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.457469|2.457469	0.43634|0.43634	.|.	.|.	ENSG00000151422|ENSG00000151422	ENST00000281092;ENST00000438717|ENST00000536402	T;T|T	0.75477|0.21543	-0.94;-0.93|2.0	5.45|5.45	1.68|1.68	0.24146|0.24146	.|.	0.347042|.	0.36628|.	N|.	0.002499|.	T|T	0.28366|0.28366	0.0701|0.0701	L|L	0.54323|0.54323	1.7|1.7	0.53688|0.53688	D|D	0.999976|0.999976	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.02202|0.02202	-1.1196|-1.1196	10|7	0.32370|0.40728	T|T	0.25|0.16	-19.6161|-19.6161	10.1721|10.1721	0.42915|0.42915	0.3904:0.0:0.6096:0.0|0.3904:0.0:0.6096:0.0	.|.	415|.	P16591|.	FER_HUMAN|.	N|M	415;240|311	ENSP00000281092:K415N;ENSP00000394297:K240N|ENSP00000442627:R311M	ENSP00000281092:K415N|ENSP00000442627:R311M	K|R	+|+	3|2	2|0	FER|FER	108309738|108309738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.576000|0.576000	0.23744|0.23744	0.375000|0.375000	0.24679|0.24679	0.491000|0.491000	0.48974|0.48974	AAG|AGG		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		20	17	1	0	2.4624e-09	0.008871	3.23053e-09	20	17				
LVRN	206338	broad.mit.edu	37	5	115339077	115339077	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:115339077G>T	ENST00000357872.4	+	12	2161	c.2037G>T	c.(2035-2037)aaG>aaT	p.K679N	AQPEP_ENST00000395528.2_Splice_Site_p.K196N	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		679						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K679N(2)									AGGATCCTAAGGTAAGGTTAC	0.294																																							uc003kro.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2035-2037)AAG>AAT		laeverin							40.0	45.0	43.0					5																	115339077		2192	4274	6466	SO:0001630	splice_region_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115339077G>T																												ENST00000357872.4:c.2037+1G>T	5.37:g.115339077G>T						AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.K679N	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			12	2201	+			679			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2037G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827223	0.32329	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.24151	1.87;1.87	5.2	5.2	0.72013	.	0.226096	0.37809	N	0.001924	T	0.47451	0.1446	L	0.53617	1.68	0.49915	D	0.999839	D	0.89917	1.0	D	0.77557	0.99	T	0.31138	-0.9954	10	0.45353	T	0.12	.	17.8672	0.88799	0.0:0.0:1.0:0.0	.	679	Q6Q4G3	AMPQ_HUMAN	N	196;679;668	ENSP00000378899:K196N;ENSP00000350541:K679N	ENSP00000350541:K679N	K	+	3	2	AC010282.1	115366976	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	4.686000	0.61700	2.584000	0.87258	0.585000	0.79938	AAG		0.294	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		Missense_Mutation	9	93	1	0	0.000274275	0.004482	0.00030515	9	93				
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:126859188G>C	ENST00000296666.8	+	2	205	c.17G>C	c.(16-18)gGa>gCa	p.G6A	PRRC1_ENST00000512635.2_Missense_Mutation_p.G6A|PRRC1_ENST00000442138.2_Missense_Mutation_p.G6A	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus (GO:0005794)		p.G6A(2)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGAGAGTGGAATAGAGACA	0.378																																							uc003kuk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(16-18)GGA>GCA		proline-rich coiled-coil 1							123.0	104.0	110.0					5																	126859188		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126859188G>C	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.17G>C	5.37:g.126859188G>C	ENSP00000296666:p.Gly6Ala					PRRC1_uc003kuj.3_Missense_Mutation_p.G6A	p.G6A	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	2	197	+		Prostate(80;0.165)	6					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.17G>C	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643849	0.87859	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.69548	-0.5116	9	0.72032	D	0.01	-13.9088	16.0695	0.80914	0.0:0.0:1.0:0.0	.	6;6	Q96M27;Q96M27-5	PRRC1_HUMAN;.	A	6	.	ENSP00000296666:G6A	G	+	2	0	PRRC1	126887087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.194000	0.72082	2.699000	0.92147	0.650000	0.86243	GGA		0.378	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		10	30	0	0	0	0.006214	0	10	30				
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:127483407C>T	ENST00000262461.2	+	11	2056	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P623S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	623					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.P623S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AGTGAGTGCTCCCAAAATATT	0.323																																							uc003kus.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1867-1869)CCC>TCC		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						102.0	101.0	102.0					5																	127483407		2203	4297	6500	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127483407C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1867C>T	5.37:g.127483407C>T	ENSP00000262461:p.Pro623Ser					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.P623S	p.P623S	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	11	2031	+		all_cancers(142;0.0972)|Prostate(80;0.151)	623			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1867C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552814	0.86127	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.97976	-4.64;-4.64	5.06	5.06	0.68205	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99797	1.1034	10	0.87932	D	0	.	18.6192	0.91315	0.0:1.0:0.0:0.0	.	623;623	P55011-3;P55011	.;S12A2_HUMAN	S	623	ENSP00000262461:P623S;ENSP00000340878:P623S	ENSP00000262461:P623S	P	+	1	0	SLC12A2	127511306	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.212000	0.77941	2.638000	0.89438	0.585000	0.79938	CCC		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		4	35	0	0	0	0.009096	0	4	35				
FBN2	2201	broad.mit.edu	37	5	127710389	127710389	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:127710389C>A	ENST00000508053.1	-	21	3001	c.2027G>T	c.(2026-2028)aGt>aTt	p.S676I	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.S676I|FBN2_ENST00000508989.1_Missense_Mutation_p.S643I			P35556	FBN2_HUMAN	fibrillin 2	676	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.S676I(4)		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)		GGACCCTTCACTGTTGATGCA	0.507																																							uc003kuu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2026-2028)AGT>ATT		fibrillin 2 precursor							119.0	97.0	105.0					5																	127710389		2203	4300	6503	SO:0001583	missense	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.chr5:127710389C>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.2027G>T	5.37:g.127710389C>A	ENSP00000424571:p.Ser676Ile					FBN2_uc003kuv.2_Missense_Mutation_p.S643I	p.S676I	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)	15	2466	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	676			EGF-like 10; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2027G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267401	0.40095	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92048	-2.96;-2.96;-2.96	4.45	2.05	0.26809	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.257682	0.29328	N	0.012477	D	0.84579	0.5503	N	0.16708	0.43	0.22737	N	0.998791	P;B	0.37594	0.601;0.085	B;B	0.43103	0.408;0.077	T	0.75964	-0.3132	10	0.46703	T	0.11	.	5.2577	0.15555	0.0:0.1814:0.2812:0.5374	.	643;676	D6RJI3;P35556	.;FBN2_HUMAN	I	676;676;643	ENSP00000262464:S676I;ENSP00000424571:S676I;ENSP00000425596:S643I	ENSP00000262464:S676I	S	-	2	0	FBN2	127738288	1.000000	0.71417	0.979000	0.43373	0.872000	0.50106	4.004000	0.57068	0.478000	0.27488	-1.021000	0.02439	AGT		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	75	1	0	1.58986e-06	0.008291	1.92799e-06	11	75				
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:133909338A>G	ENST00000282605.4	+	10	1524	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000361895.2_Missense_Mutation_p.R480G|PHF15_ENST00000395003.1_Missense_Mutation_p.R480G|PHF15_ENST00000402835.1_Intron														p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512																																							uc003kzo.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1438-1440)AGA>GGA		PHD finger protein 15							120.0	95.0	103.0					5																	133909338		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133909338A>G																												ENST00000282605.4:c.1438A>G	5.37:g.133909338A>G	ENSP00000282605:p.Arg480Gly					PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G	p.R480G	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1617	+			480						Missense_Mutation	SNP	ENST00000282605.4	37	c.1438A>G		.	.	.	.	.	.	.	.	.	.	A	21.8	4.197263	0.79015	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.66280	-0.2;-0.0;-0.0	5.51	5.51	0.81932	.	0.206046	0.48767	D	0.000161	T	0.77778	0.4181	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.99;0.99;0.997;0.99	T	0.80169	-0.1494	10	0.87932	D	0	.	15.794	0.78394	1.0:0.0:0.0:0.0	.	480;480;480;480;496	B4DFY8;Q9NQC1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.	G	480;496;480;480;480;480	ENSP00000282605:R480G;ENSP00000354425:R480G;ENSP00000378451:R480G	ENSP00000282605:R480G	R	+	1	2	PHF15	133937237	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.626000	0.54245	2.317000	0.78254	0.459000	0.35465	AGA		0.512	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			53	57	0	0	0	0.00361	0	53	57				
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	C	T	rs201057651		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:139193210C>T	ENST00000274710.3	+	3	893	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R230C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCCGCTCTGAGAA	0.632																																							uc003leu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(688-690)CGC>TGC		pleckstrin and Sec7 domain containing 2		C	CYS/ARG	0,4290		0,0,2145	13.0	17.0	16.0		688	3.6	1.0	5		16	2,8476		0,2,4237	yes	missense	PSD2	NM_032289.2	180	0,2,6382	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	230/772	139193210	2,12766	2145	4239	6384	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193210C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.688C>T	5.37:g.139193210C>T	ENSP00000274710:p.Arg230Cys						p.R230C	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	893	+			230					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.688C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198982	0.58126	0.0	2.36E-4	ENSG00000146005	ENST00000274710	T	0.15603	2.41	4.52	3.63	0.41609	.	0.347215	0.23067	N	0.052312	T	0.29620	0.0739	L	0.48642	1.525	0.58432	D	0.999999	D	0.89917	1.0	P	0.61800	0.894	T	0.01604	-1.1314	10	0.59425	D	0.04	.	11.485	0.50348	0.3447:0.6553:0.0:0.0	.	230	Q9BQI7	PSD2_HUMAN	C	230	ENSP00000274710:R230C	ENSP00000274710:R230C	R	+	1	0	PSD2	139173394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.589000	0.53972	0.988000	0.38734	0.462000	0.41574	CGC		0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		16	11	0	0	0	0.001882	0	16	11				
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140181953C>A	ENST00000522353.2	+	1	1171	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P391T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P391T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACGCCCCACGTCCC	0.567																																							uc003lhf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(2)	8						c.(1171-1173)CCC>ACC		protocadherin alpha 3 isoform 1 precursor							129.0	118.0	122.0					5																	140181953		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181953C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1171C>A	5.37:g.140181953C>A	ENSP00000429808:p.Pro391Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P391T	p.P391T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1171	+			391			Cadherin 4.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1171C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.373131	0.24857	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.59364	0.27;0.27	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.41605	U	0.000842	T	0.71108	0.3301	M	0.63428	1.95	0.09310	N	1	P;P	0.40050	0.61;0.7	B;P	0.54431	0.322;0.752	T	0.65952	-0.6043	10	0.62326	D	0.03	.	18.1862	0.89793	0.0:1.0:0.0:0.0	.	391;391	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	391	ENSP00000429808:P391T;ENSP00000434086:P391T	ENSP00000429808:P391T	P	+	1	0	PCDHA3	140162137	0.000000	0.05858	0.021000	0.16686	0.886000	0.51366	0.017000	0.13399	2.378000	0.81104	0.467000	0.42956	CCC		0.567	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		60	200	1	0	5.10652e-33	0.00361	9.06637e-33	60	200				
PCDHB4	56131	broad.mit.edu	37	5	140502030	140502030	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140502030A>G	ENST00000194152.1	+	1	450	c.450A>G	c.(448-450)ctA>ctG	p.L150L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L150L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGTACTCTATTTCCGTTGC	0.403																																							uc003lip.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(448-450)CTA>CTG		protocadherin beta 4 precursor							52.0	57.0	56.0					5																	140502030		2203	4299	6502	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502030A>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.450A>G	5.37:g.140502030A>G							p.L150L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	450	+			150			Cadherin 2.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.450A>G	CCDS4246.1																																																																																				0.403	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		6	145	0	0	0	0.001168	0	6	145				
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140558219G>T	ENST00000239444.2	+	1	849	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCGCTGGACCGAGAGGA	0.532																																							uc011dai.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)	4						c.(604-606)GAC>TAC		protocadherin beta 8 precursor							53.0	75.0	68.0					5																	140558219		2202	4277	6479	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558219G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.604G>T	5.37:g.140558219G>T	ENSP00000239444:p.Asp202Tyr					PCDHB16_uc003liv.2_5'Flank	p.D202Y	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	790	+			202			Cadherin 2.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.604G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	15.68	2.906010	0.52333	.	.	ENSG00000120322	ENST00000239444	T	0.65549	-0.16	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89656	0.6778	H	0.99951	5.03	0.42024	D	0.990996	D	0.89917	1.0	D	0.97110	1.0	D	0.95178	0.8296	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	202	Q9UN66	PCDB8_HUMAN	Y	202	ENSP00000239444:D202Y	ENSP00000239444:D202Y	D	+	1	0	PCDHB8	140538403	1.000000	0.71417	0.194000	0.23346	0.780000	0.44128	8.005000	0.88553	1.911000	0.55334	0.585000	0.79938	GAC		0.532	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		51	245	1	0	1.82294e-38	0.00361	3.32616e-38	51	245				
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140731096G>A	ENST00000523390.1	+	1	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	423	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.K423K(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGACAAGGGCAAACCAG	0.517																																							uc003ljo.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1267-1269)AAG>AAA		protocadherin gamma subfamily B, 1 isoform 1							79.0	90.0	87.0					5																	140731096		2168	4264	6432	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731096G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1269G>A	5.37:g.140731096G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.K423K	p.K423K	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1269	+			423			Extracellular (Potential).|Cadherin 4.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1269G>A	CCDS54923.1																																																																																				0.517	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		53	41	0	0	0	0.00361	0	53	41				
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140799011G>T	ENST00000398594.2	+	1	1585	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	529	Cadherin 5. {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.E529*(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACCTTCGAGCTCACGCT	0.697																																							uc003lkn.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1585-1587)GAG>TAG		protocadherin gamma subfamily B, 7 isoform 1							38.0	42.0	41.0					5																	140799011		2070	4199	6269	SO:0001587	stop_gained	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799011G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1585G>T	5.37:g.140799011G>T	ENSP00000381594:p.Glu529*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.E529*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.E529*	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1730	+			529			Extracellular (Potential).|Cadherin 5.		Q9UN63	Nonsense_Mutation	SNP	ENST00000398594.2	37	c.1585G>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	31	5.088659	0.94100	.	.	ENSG00000254122	ENST00000398594	.	.	.	5.38	-1.41	0.08941	.	0.251419	0.19568	U	0.111156	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	13.679	0.62472	0.1281:0.6185:0.2535:0.0	.	.	.	.	X	529	.	ENSP00000381594:E529X	E	+	1	0	PCDHGB7	140779195	0.000000	0.05858	0.982000	0.44146	0.784000	0.44337	-1.885000	0.01620	-0.336000	0.08438	0.491000	0.48974	GAG		0.697	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		53	57	1	0	1.63038e-21	0.00361	2.68559e-21	53	57				
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140812210G>T	ENST00000252085.3	+	1	2026	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	628	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.T628T(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687																																							uc003lkt.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(1882-1884)ACG>ACT		protocadherin gamma subfamily A, 12 isoform 1							31.0	39.0	36.0					5																	140812210		2174	4243	6417	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812210G>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1884G>T	5.37:g.140812210G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.T628T	p.T628T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2053	+			628			Cadherin 6.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1884G>T	CCDS4260.1																																																																																				0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		19	135	1	0	1.28384e-07	0.001882	1.60277e-07	19	135				
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:158135059A>G	ENST00000313708.6	-	15	1954	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.F490L|EBF1_ENST00000380654.4_Missense_Mutation_p.F527L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	558					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.F558L(2)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGTGCGAAAGCACTCTTC	0.622			T	HMGA2	lipoma																																		uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1672-1674)TTC>CTC		early B-cell factor							86.0	81.0	83.0					5																	158135059		2193	4291	6484	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158135059A>G	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1672T>C	5.37:g.158135059A>G	ENSP00000322898:p.Phe558Leu					EBF1_uc011ddw.1_Missense_Mutation_p.F426L|EBF1_uc011ddx.1_Missense_Mutation_p.F559L|EBF1_uc003lxl.3_Missense_Mutation_p.F527L	p.F558L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1974	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	558					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1672T>C	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872634	0.91587	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.48201	0.82;0.82;0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	M	0.83953	2.67	0.48975	D	0.999734	D;D;D;D	0.89917	0.997;0.969;1.0;1.0	D;D;D;D	0.91635	0.97;0.914;0.998;0.999	T	0.74802	-0.3541	10	0.52906	T	0.07	-6.0687	14.889	0.70594	1.0:0.0:0.0:0.0	.	558;545;558;527	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	L	558;558;527;490	ENSP00000322898:F558L;ENSP00000370029:F527L;ENSP00000428020:F490L	ENSP00000322898:F558L	F	-	1	0	EBF1	158067637	1.000000	0.71417	0.984000	0.44739	0.901000	0.52897	9.339000	0.96797	1.919000	0.55581	0.459000	0.35465	TTC		0.622	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		9	6	0	0	0	0.008291	0	9	6				
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:162909666C>T	ENST00000358715.3	+	13	1437	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	HMMR_ENST00000393915.4_Silent_p.A468A|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Silent_p.A381A|HMMR_ENST00000353866.3_Silent_p.A452A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	467					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.A467A(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CGTTAACAGCCAGTGAGATAG	0.348																																							uc003lzf.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1399-1401)GCC>GCT		hyaluronan-mediated motility receptor isoform b							58.0	59.0	59.0					5																	162909666		2203	4300	6503	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162909666C>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1401C>T	5.37:g.162909666C>T						HMMR_uc003lzh.2_Silent_p.A468A|HMMR_uc003lzg.2_Silent_p.A452A|HMMR_uc011dem.1_Silent_p.A381A|uc003lzi.2_RNA	p.A467A	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	13	1583	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	467					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.1401C>T	CCDS4362.1																																																																																				0.348	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		9	56	0	0	0	0.000978	0	9	56				
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:168093656G>T	ENST00000519560.1	-	36	4794	c.4375C>A	c.(4375-4377)Cgc>Agc	p.R1459S	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466S|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(4375-4377)CGC>AGC		slit homolog 3 precursor							80.0	78.0	78.0					5																	168093656		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093656G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4375C>A	5.37:g.168093656G>T	ENSP00000430333:p.Arg1459Ser					SLIT3_uc010jjg.2_Missense_Mutation_p.R1466S	p.R1459S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4795	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1459			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4375C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449094	0.84101	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.75938	-0.98;-0.97	5.08	5.08	0.68730	Cystine knot, C-terminal (2);	0.254594	0.43919	D	0.000503	T	0.65790	0.2725	L	0.38175	1.15	0.80722	D	1	P	0.39940	0.696	B	0.36244	0.22	T	0.65084	-0.6254	10	0.26408	T	0.33	.	18.4917	0.90851	0.0:0.0:1.0:0.0	.	1459	O75094	SLIT3_HUMAN	S	1459;1466	ENSP00000430333:R1459S;ENSP00000332164:R1466S	ENSP00000332164:R1466S	R	-	1	0	SLIT3	168026234	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.898000	0.56281	2.362000	0.80069	0.555000	0.69702	CGC		0.607	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		14	101	1	0	6.31663e-08	0.003163	8.00376e-08	14	101				
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169494661G>T	ENST00000256935.8	+	45	4695	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	DOCK2_ENST00000520908.1_Missense_Mutation_p.V1031F|DOCK2_ENST00000540750.1_Missense_Mutation_p.V600F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V1539F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACCCTGCTGTCATGGGAGG	0.547																																							uc003maf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4615-4617)GTC>TTC		dedicator of cytokinesis 2							150.0	142.0	144.0					5																	169494661		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169494661G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4615G>T	5.37:g.169494661G>T	ENSP00000256935:p.Val1539Phe					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V1031F|DOCK2_uc003mah.2_Missense_Mutation_p.V95F	p.V1539F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		45	4695	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1539			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4615G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164844	0.78339	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.32753	1.44;1.44;1.44	4.83	4.83	0.62350	Cytochrome c domain (1);	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.79193	-0.1904	10	0.87932	D	0	.	18.2848	0.90111	0.0:0.0:1.0:0.0	.	1031;95;1539	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	F	1539;1031;600	ENSP00000256935:V1539F;ENSP00000429283:V1031F;ENSP00000438827:V600F	ENSP00000256935:V1539F	V	+	1	0	DOCK2	169427239	1.000000	0.71417	0.980000	0.43619	0.382000	0.30200	9.809000	0.99208	2.387000	0.81309	0.563000	0.77884	GTC		0.547	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		19	174	1	0	1.87028e-06	0.001882	2.24965e-06	19	174				
DOCK2	1794	broad.mit.edu	37	5	169508848	169508848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169508848C>A	ENST00000256935.8	+	51	5370	c.5290C>A	c.(5290-5292)Ctg>Atg	p.L1764M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256M|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGCCCTGGCGCTCTC	0.632																																							uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(5290-5292)CTG>ATG		dedicator of cytokinesis 2							59.0	52.0	54.0					5																	169508848		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508848C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5290C>A	5.37:g.169508848C>A	ENSP00000256935:p.Leu1764Met					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1256M|DOCK2_uc003mah.2_Missense_Mutation_p.L320M	p.L1764M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5370	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1764					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5290C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004284	0.35320	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10288	3.54;3.17;2.89	4.84	4.84	0.62591	.	0.125717	0.36519	N	0.002553	T	0.13670	0.0331	N	0.19112	0.55	0.29645	N	0.844431	P;D;P	0.63880	0.808;0.993;0.808	P;P;P	0.58721	0.523;0.844;0.523	T	0.02477	-1.1153	10	0.42905	T	0.14	.	9.4612	0.38785	0.0:0.9025:0.0:0.0975	.	1256;320;1764	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1764;1256;825	ENSP00000256935:L1764M;ENSP00000429283:L1256M;ENSP00000438827:L825M	ENSP00000256935:L1764M	L	+	1	2	DOCK2	169441426	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	1.479000	0.35453	2.368000	0.80403	0.655000	0.94253	CTG		0.632	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		7	58	1	0	0.00185496	0.001855	0.00202204	7	58				
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	C	G	rs146116253		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169533120C>G	ENST00000306268.6	+	1	220	c.159C>G	c.(157-159)ggC>ggG	p.G53G	FOXI1_ENST00000449804.2_Silent_p.G53G			Q12951	FOXI1_HUMAN	forkhead box I1	53	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G53G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGGGGCGGCGAGTATGGGG	0.692									Pendred syndrome																														uc003mai.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|central_nervous_system(1)	4						c.(157-159)GGC>GGG		forkhead box I1 isoform a							15.0	17.0	16.0					5																	169533120		2200	4294	6494	SO:0001819	synonymous_variant	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169533120C>G	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.159C>G	5.37:g.169533120C>G						FOXI1_uc003maj.3_Silent_p.G53G	p.G53G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	204	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	53			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.159C>G	CCDS4372.1																																																																																				0.692	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		8	29	0	0	0	0.006214	0	8	29				
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173491286A>T	ENST00000303177.3	+	3	443	c.181A>T	c.(181-183)Aag>Tag	p.K61*	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Nonsense_Mutation_p.K61*	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		61					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K61*(2)									GAACAAAGGGAAGTTCCGGGT	0.463																																							uc003mcx.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(181-183)AAG>TAG		HMP19 protein							91.0	86.0	88.0					5																	173491286		2203	4300	6503	SO:0001587	stop_gained	51617				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding	g.chr5:173491286A>T																												ENST00000303177.3:c.181A>T	5.37:g.173491286A>T	ENSP00000307722:p.Lys61*						p.K61*	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	326	+	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	61			Cytoplasmic (Potential).		B2R5Y0|D3DQN0|Q9UHX8	Nonsense_Mutation	SNP	ENST00000303177.3	37	c.181A>T	CCDS4391.1	.	.	.	.	.	.	.	.	.	.	A	36	5.916305	0.97099	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521585;ENST00000521278;ENST00000519717	.	.	.	5.69	5.69	0.88448	.	0.047245	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6674	16.2484	0.82467	1.0:0.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000307722:K61X	K	+	1	0	AC011333.1	173423892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.291000	0.77112	0.533000	0.62120	AAG		0.463	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			53	60	0	0	0	0.00361	0	53	60				
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173534364G>T	ENST00000303177.3	+	5	634	c.372G>T	c.(370-372)caG>caT	p.Q124H	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		124					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q124H(2)									ACTCCTCCCAGGACCCCAATT	0.592																																							uc003mcx.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(370-372)CAG>CAT		HMP19 protein							78.0	77.0	77.0					5																	173534364		2203	4300	6503	SO:0001583	missense	51617				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding	g.chr5:173534364G>T																												ENST00000303177.3:c.372G>T	5.37:g.173534364G>T	ENSP00000307722:p.Gln124His					HMP19_uc011dfh.1_Missense_Mutation_p.R28M	p.Q124H	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	517	+	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	124			Lumenal (Potential).		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	ENST00000303177.3	37	c.372G>T	CCDS4391.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166141	0.78339	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521278;ENST00000519717	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.70275	2.135	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.81814	-0.0760	9	0.87932	D	0	-15.1018	18.4438	0.90676	0.0:0.0:1.0:0.0	.	124	Q9Y328	NSG2_HUMAN	H	124	.	ENSP00000307722:Q124H	Q	+	3	2	AC011333.1	173466970	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.733000	0.68571	2.344000	0.79699	0.561000	0.74099	CAG		0.592	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			29	104	1	0	5.45727e-16	0.008361	8.47162e-16	29	104				
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176011426T>A	ENST00000510636.1	+	19	2418	c.2144T>A	c.(2143-2145)gTg>gAg	p.V715E	CDHR2_ENST00000506348.1_Missense_Mutation_p.V715E|CDHR2_ENST00000261944.5_Missense_Mutation_p.V715E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V715E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTAGTGGGCGTGGTGAAGGCC	0.617																																							uc003mem.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2143-2145)GTG>GAG		protocadherin LKC precursor							84.0	88.0	87.0					5																	176011426		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011426T>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2144T>A	5.37:g.176011426T>A	ENSP00000424565:p.Val715Glu					CDHR2_uc003men.1_Missense_Mutation_p.V715E	p.V715E	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			19	2210	+			715			Cadherin 7.|Extracellular (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2144T>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.522719	0.00149	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.51817	0.69;0.69;0.69	5.12	1.22	0.21188	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27866	0.0686	L	0.39633	1.23	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.31971	-0.9924	9	0.02654	T	1	-0.1982	2.2739	0.04097	0.3804:0.0751:0.119:0.4256	.	715	Q9BYE9	CDHR2_HUMAN	E	715	ENSP00000424565:V715E;ENSP00000261944:V715E;ENSP00000421078:V715E	ENSP00000261944:V715E	V	+	2	0	CDHR2	175944032	0.000000	0.05858	0.019000	0.16419	0.007000	0.05969	0.055000	0.14229	0.030000	0.15379	-0.524000	0.04348	GTG		0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		32	228	0	0	0	0.009535	0	32	228				
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176306803C>T	ENST00000329542.4	+	15	2719	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	UNC5A_ENST00000261961.3_Silent_p.G775G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	815	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G815G(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCAACGGCAACCTCAGCC	0.672																																							uc003mey.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2443-2445)GGC>GGT		netrin receptor Unc5h1 precursor							37.0	40.0	39.0					5																	176306803		2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306803C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2445C>T	5.37:g.176306803C>T							p.G815G	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2637	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	815			Death.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.2445C>T	CCDS34299.1																																																																																				0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		8	73	0	0	0	0.00308	0	8	73				
ADAMTS2	9509	broad.mit.edu	37	5	178585744	178585744	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:178585744A>C	ENST00000251582.7	-	6	1213	c.1112T>G	c.(1111-1113)tTt>tGt	p.F371C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.F371C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	371	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F371C(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGAAGGCCCAAAGTCCTGCCG	0.627																																							uc003mjw.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1111-1113)TTT>TGT		ADAM metallopeptidase with thrombospondin type 1							145.0	125.0	132.0					5																	178585744		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585744A>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1112T>G	5.37:g.178585744A>C	ENSP00000251582:p.Phe371Cys					ADAMTS2_uc011dgm.1_Missense_Mutation_p.F371C	p.F371C	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1112	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	371			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1112T>G	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618756	0.87460	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.88818	-2.43;-2.43	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000018	D	0.94650	0.8275	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.95286	0.8390	10	0.87932	D	0	.	15.1958	0.73088	1.0:0.0:0.0:0.0	.	371;371	O95450-2;O95450	.;ATS2_HUMAN	C	371	ENSP00000251582:F371C;ENSP00000274609:F371C	ENSP00000251582:F371C	F	-	2	0	ADAMTS2	178518350	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	9.157000	0.94714	2.177000	0.69029	0.528000	0.53228	TTT		0.627	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		10	192	0	0	0	0.006214	0	10	192				
ADAMTS2	9509	broad.mit.edu	37	5	178770885	178770885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:178770885C>T	ENST00000251582.7	-	2	518	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADAMTS2_ENST00000274609.5_Nonsense_Mutation_p.W139*	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	139					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W139*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTCGCCCTGCCACTCCATAG	0.687																																							uc003mjw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(415-417)TGG>TGA		ADAM metallopeptidase with thrombospondin type 1							8.0	10.0	10.0					5																	178770885		2173	4245	6418	SO:0001587	stop_gained	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178770885C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.417G>A	5.37:g.178770885C>T	ENSP00000251582:p.Trp139*					ADAMTS2_uc011dgm.1_Nonsense_Mutation_p.W139*	p.W139*	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	2	417	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	139						Nonsense_Mutation	SNP	ENST00000251582.7	37	c.417G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.324833	0.98214	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	.	.	.	5.21	5.21	0.72293	.	0.000000	0.41938	D	0.000785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7434	0.88413	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000251582:W139X	W	-	3	0	ADAMTS2	178703491	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	5.851000	0.69481	2.427000	0.82271	0.462000	0.41574	TGG		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		3	14	0	0	0	0.004672	0	3	14				
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	T	rs35379048	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:7585490G>T	ENST00000379802.3	+	24	8336	c.7995G>T	c.(7993-7995)acG>acT	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T2665T(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577																																							uc003mxp.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(7993-7995)ACG>ACT		desmoplakin isoform I							97.0	94.0	95.0					6																	7585490		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585490G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7995G>T	6.37:g.7585490G>T						DSP_uc003mxq.1_Silent_p.T2066T	p.T2665T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8274	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2665			Globular 2.|Plectin 15.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7995G>T	CCDS4501.1																																																																																				0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		77	102	1	0	2.40943e-26	0.00361	4.16557e-26	77	102				
HIST1H2AA	221613	broad.mit.edu	37	6	25726441	25726441	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:25726441C>G	ENST00000297012.3	-	1	349	c.315G>C	c.(313-315)caG>caC	p.Q105H	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q105H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGACTCCGCCCTGGGCAATGG	0.507																																							uc003nfc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CAG>CAC		histone cluster 1, H2aa							321.0	272.0	289.0					6																	25726441		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726441C>G	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.315G>C	6.37:g.25726441C>G	ENSP00000297012:p.Gln105His					HIST1H2BA_uc003nfd.2_5'Flank	p.Q105H	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	350	-			105						Missense_Mutation	SNP	ENST00000297012.3	37	c.315G>C	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254331	0.22965	.	.	ENSG00000164508	ENST00000297012	T	0.43688	0.94	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (2);	0.000000	0.47852	D	0.000207	T	0.23289	0.0563	M	0.64170	1.965	0.80722	D	1	P	0.51240	0.943	B	0.39617	0.305	T	0.09618	-1.0666	10	0.62326	D	0.03	.	9.4814	0.38902	0.0:0.8922:0.0:0.1078	.	105	Q96QV6	H2A1A_HUMAN	H	105	ENSP00000297012:Q105H	ENSP00000297012:Q105H	Q	-	3	2	HIST1H2AA	25834420	1.000000	0.71417	0.552000	0.28243	0.018000	0.09664	1.963000	0.40452	1.133000	0.42147	0.650000	0.86243	CAG		0.507	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		5	300	0	0	0	0.001168	0	5	300				
HIST1H2AA	221613	broad.mit.edu	37	6	25726451	25726451	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:25726451G>C	ENST00000297012.3	-	1	339	c.305C>G	c.(304-306)aCc>aGc	p.T102S	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	102						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T102S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGGGCAATGGTCACGCCGCC	0.512																																							uc003nfc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)ACC>AGC		histone cluster 1, H2aa							330.0	278.0	296.0					6																	25726451		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726451G>C	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.305C>G	6.37:g.25726451G>C	ENSP00000297012:p.Thr102Ser					HIST1H2BA_uc003nfd.2_5'Flank	p.T102S	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	340	-			102						Missense_Mutation	SNP	ENST00000297012.3	37	c.305C>G	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044544	0.19748	.	.	ENSG00000164508	ENST00000297012	T	0.46063	0.88	3.65	1.87	0.25490	Histone-fold (2);Histone H2A (2);	0.000000	0.51477	D	0.000094	T	0.33147	0.0853	H	0.94620	3.56	0.52501	D	0.999953	P	0.41450	0.75	B	0.32864	0.154	T	0.42137	-0.9469	10	0.87932	D	0	.	7.9664	0.30102	0.2102:0.0:0.7898:0.0	.	102	Q96QV6	H2A1A_HUMAN	S	102	ENSP00000297012:T102S	ENSP00000297012:T102S	T	-	2	0	HIST1H2AA	25834430	1.000000	0.71417	0.107000	0.21349	0.005000	0.04900	6.273000	0.72581	0.548000	0.28955	-0.142000	0.14014	ACC		0.512	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		4	285	0	0	0	0.001168	0	4	285				
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:29012092C>A	ENST00000377175.1	-	1	925	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGTAAATGAGCGGGTTGAGAC	0.423																																							uc003nlw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(859-861)CCG>CCT		olfactory receptor, family 2, subfamily W,							78.0	64.0	69.0					6																	29012092		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012092C>A	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.861G>T	6.37:g.29012092C>A							p.P287P	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	861	-			287			Helical; Name=7; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.861G>T	CCDS4656.1																																																																																				0.423	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			7	10	1	0	8.12818e-05	0.001984	9.16352e-05	7	10				
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	G	T	rs143845391		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35053711G>T	ENST00000360359.3	+	22	3439	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1101					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.A1101S(1)|p.A427S(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGAAATCCGCAGTACGTGG	0.622																																							uc003ojx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(3301-3303)GCA>TCA		ankyrin repeat and sterile alpha motif domain							33.0	29.0	30.0					6																	35053711		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35053711G>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	ENST00000360359.3:c.3301G>T	6.37:g.35053711G>T	ENSP00000353518:p.Ala1101Ser					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.A642S|ANKS1A_uc010jvp.1_Missense_Mutation_p.A475S	p.A1101S	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			22	3443	+			1101					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.3301G>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753309	0.49362	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.38240	1.15	5.55	4.69	0.59074	.	0.000000	0.48767	D	0.000161	T	0.40322	0.1112	L	0.47716	1.5	0.80722	D	1	P;P;D	0.89917	0.853;0.853;1.0	P;P;D	0.83275	0.459;0.459;0.996	T	0.24870	-1.0148	10	0.38643	T	0.18	-10.2292	12.9685	0.58499	0.0748:0.0:0.9252:0.0	.	427;427;1101	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	S	1101;427	ENSP00000353518:A1101S	ENSP00000353518:A1101S	A	+	1	0	ANKS1A	35161689	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	3.901000	0.56303	1.363000	0.46019	-0.119000	0.15052	GCA		0.622	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		10	26	1	0	1.58986e-06	0.008291	1.92799e-06	10	26				
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35212536A>G	ENST00000274938.7	+	18	2349	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	SCUBE3_ENST00000394681.1_Silent_p.P799P	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.P783P(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCCGCTGTCCAGGAAACACAA	0.577																																							uc003okf.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2347-2349)CCA>CCG		signal peptide, CUB domain, EGF-like 3							145.0	139.0	141.0					6																	35212536		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35212536A>G	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2349A>G	6.37:g.35212536A>G						SCUBE3_uc003okg.1_Silent_p.P782P|SCUBE3_uc003okh.1_Silent_p.P670P	p.P783P	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			18	2355	+			783						Silent	SNP	ENST00000274938.7	37	c.2349A>G	CCDS4800.1																																																																																				0.577	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		48	175	0	0	0	0.00361	0	48	175				
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:44150906G>A	ENST00000398776.1	+	21	2106	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D690N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.D690N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTATGCAGATGATGACCT	0.522																																							uc003owt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2068-2070)GAT>AAT		calpain 11							156.0	152.0	153.0					6																	44150906		2008	4187	6195	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44150906G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2068G>A	6.37:g.44150906G>A	ENSP00000381758:p.Asp690Asn					CAPN11_uc011dvn.1_3'UTR	p.D690N	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		21	2106	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		690			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.2068G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	8.198	0.797503	0.16327	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.35973	1.28;1.28	5.38	1.38	0.22167	EF-hand-like domain (1);	0.306724	0.23558	N	0.046887	T	0.07234	0.0183	N	0.12831	0.26	0.09310	N	0.999996	B	0.12630	0.006	B	0.06405	0.002	T	0.33033	-0.9884	10	0.42905	T	0.14	.	9.171	0.37081	0.3069:0.0:0.6931:0.0	.	690	Q9UMQ6	CAN11_HUMAN	N	690	ENSP00000381758:D690N;ENSP00000441078:D690N	ENSP00000381758:D690N	D	+	1	0	CAPN11	44258884	0.999000	0.42202	0.005000	0.12908	0.284000	0.27059	2.927000	0.48900	0.338000	0.23692	-0.149000	0.13747	GAT		0.522	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			33	109	0	0	0	0.002445	0	33	109				
DEFB112	245915	broad.mit.edu	37	6	50016257	50016257	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:50016257G>T	ENST00000322246.4	-	1	107	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	36					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.I36I(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACCTGTGCTGATTTTCTCTG	0.318																																							uc011dws.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(106-108)ATC>ATA		beta-defensin 112 precursor							126.0	119.0	121.0					6																	50016257		2203	4299	6502	SO:0001819	synonymous_variant	245915				defense response to bacterium	extracellular region		g.chr6:50016257G>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.108C>A	6.37:g.50016257G>T							p.I36I	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			1	108	-	Lung NSC(77;0.042)		36					Q8NET0	Silent	SNP	ENST00000322246.4	37	c.108C>A	CCDS34476.1																																																																																				0.318	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		7	51	1	0	0.00307968	0.00308	0.0033265	7	51				
TPBG	7162	broad.mit.edu	37	6	83074867	83074867	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:83074867C>T	ENST00000369750.3	+	2	806	c.189C>T	c.(187-189)ccC>ccT	p.P63P	TPBG_ENST00000543496.1_Silent_p.P63P|TPBG_ENST00000535040.1_Silent_p.P63P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	63	LRRNT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		ACCAGTGCCCCGCGCTGTGCG	0.692																																							uc003pjn.3		NA																	0				central_nervous_system(1)	1						c.(187-189)CCC>CCT		trophoblast glycoprotein precursor																																				SO:0001819	synonymous_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83074867C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.189C>T	6.37:g.83074867C>T						TPBG_uc010kbj.2_Silent_p.P63P|TPBG_uc003pjo.2_Silent_p.P63P	p.P63P	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1125	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	63			Extracellular (Potential).|LRRNT.		A8K555	Silent	SNP	ENST00000369750.3	37	c.189C>T	CCDS4995.1																																																																																				0.692	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			3	10	0	0	0	0.004672	0	3	10				
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:97052766C>T	ENST00000326771.2	+	4	680	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FHL5_ENST00000541107.1_Silent_p.S100S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	100	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S100S(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGCTCCTCCAAGTGCTTCC	0.512																																							uc003pos.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(298-300)TCC>TCT		activator of cAMP-responsive element modulator							111.0	101.0	104.0					6																	97052766		2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97052766C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.300C>T	6.37:g.97052766C>T						FHL5_uc003pot.1_Silent_p.S100S	p.S100S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	4	705	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	100			LIM zinc-binding 1.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.300C>T	CCDS5035.1																																																																																				0.512	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		13	33	0	0	0	0.001368	0	13	33				
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:128134882G>C	ENST00000368248.2	-	4	1052	c.904C>G	c.(904-906)Cag>Gag	p.Q302E	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q267E|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q302E|THEMIS_ENST00000368250.1_Missense_Mutation_p.Q223E	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	302	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q302E(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTCCCAGGCTGTAAAATGCTT	0.398																																							uc003qbi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(904-906)CAG>GAG		thymocyte selection pathway associated isoform							111.0	117.0	115.0					6																	128134882		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134882G>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.904C>G	6.37:g.128134882G>C	ENSP00000357231:p.Gln302Glu					THEMIS_uc010kfa.2_Missense_Mutation_p.Q205E|THEMIS_uc011ebt.1_Missense_Mutation_p.Q302E|THEMIS_uc010kfb.2_Missense_Mutation_p.Q267E	p.Q302E	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1223	-			302			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.904C>G	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	4.810	0.150566	0.09185	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.59	3.78	0.43462	.	0.553031	0.19780	N	0.106247	T	0.07052	0.0179	M	0.75264	2.295	0.32762	N	0.504926	B;B	0.28128	0.137;0.201	B;B	0.28385	0.085;0.089	T	0.07385	-1.0775	10	0.51188	T	0.08	-5.8028	6.4653	0.21977	0.1326:0.0:0.6049:0.2625	.	302;302	F5H1J9;Q8N1K5	.;THMS1_HUMAN	E	223;302;302;267;70	ENSP00000357233:Q223E;ENSP00000439594:Q302E;ENSP00000357231:Q302E;ENSP00000439863:Q267E;ENSP00000387740:Q70E	ENSP00000357231:Q302E	Q	-	1	0	THEMIS	128176575	0.138000	0.22547	0.981000	0.43875	0.218000	0.24690	0.575000	0.23729	0.697000	0.31718	0.455000	0.32223	CAG		0.398	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		35	68	0	0	0	0.003271	0	35	68				
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:129649485C>G	ENST00000421865.2	+	29	4288	c.4239C>G	c.(4237-4239)acC>acG	p.T1413T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1413	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.T1413T(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGACCAACCCTGGGCACCT	0.517																																							uc003qbn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(1)|skin(1)	10						c.(4237-4239)ACC>ACG		laminin alpha 2 subunit isoform a precursor							133.0	114.0	120.0					6																	129649485		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649485C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4239C>G	6.37:g.129649485C>G						LAMA2_uc003qbo.2_Silent_p.T1413T	p.T1413T	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4344	+			1413			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4239C>G	CCDS5138.1																																																																																				0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			38	54	0	0	0	0.005524	0	38	54				
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:130762209G>T	ENST00000296978.3	+	3	1513	c.642G>T	c.(640-642)tcG>tcT	p.S214S	TMEM200A_ENST00000392429.1_Silent_p.S214S|TMEM200A_ENST00000545622.1_Silent_p.S214S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						integral component of membrane (GO:0016021)		p.S214S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTCTTTCTCGGGTTTTCGGA	0.478																																							uc003qca.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(640-642)TCG>TCT		transmembrane protein 200A							60.0	59.0	59.0					6																	130762209		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762209G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.642G>T	6.37:g.130762209G>T						TMEM200A_uc010kfh.2_Silent_p.S214S|TMEM200A_uc010kfi.2_Silent_p.S214S|TMEM200A_uc003qcb.2_Silent_p.S214S	p.S214S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1513	+			214			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.642G>T	CCDS5140.1																																																																																				0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		14	34	1	0	6.31663e-08	0.003163	8.00376e-08	14	34				
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:131937143C>A	ENST00000368068.3	-	10	960		c.e10-1		MED23_ENST00000539158.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000540546.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000368053.4_Splice_Site|MED23_ENST00000403834.3_Splice_Site	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAAACAGATCCTTTAAAGAAA	0.338																																							uc003qcs.1		NA																	4	Unknown(4)		lung(4)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.e10-1		mediator complex subunit 23 isoform a							76.0	74.0	75.0					6																	131937143		2203	4300	6503	SO:0001630	splice_region_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131937143C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.781-1G>T	6.37:g.131937143C>A						MED23_uc003qcq.2_Splice_Site_p.D261_splice|MED23_uc003qct.1_Splice_Site_p.D261_splice|MED23_uc011ecb.1_Splice_Site	p.D261_splice	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	10	955	-	Breast(56;0.0753)							B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Splice_Site	SNP	ENST00000368068.3	37	c.781_splice	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145120	0.57044	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3089	0.94177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED23	131978836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.773000	0.85462	2.632000	0.89209	0.650000	0.86243	.		0.338	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Intron	10	13	1	0	7.48243e-07	0.006214	9.2247e-07	10	13				
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:132938808G>T	ENST00000367931.1	-	2	536	c.537C>A	c.(535-537)gtC>gtA	p.V179V	TAAR2_ENST00000275191.2_Silent_p.V134V|TAAR2_ENST00000537809.1_Silent_p.V134V			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	179					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V179V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTCTGAGAAGACCACCCCGA	0.463																																							uc003qdl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(535-537)GTC>GTA		trace amine associated receptor 2 isoform 1							67.0	61.0	63.0					6																	132938808		2203	4300	6503	SO:0001819	synonymous_variant	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938808G>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.537C>A	6.37:g.132938808G>T						TAAR2_uc010kfr.1_Silent_p.V134V	p.V179V	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	537	-	Breast(56;0.135)		179			Helical; Name=4; (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	c.537C>A	CCDS34541.1																																																																																				0.463	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		19	33	1	0	2.35188e-11	0.006122	3.25097e-11	19	33				
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:143081590G>A	ENST00000367604.1	-	8	6474	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	HIVEP2_ENST00000012134.2_Silent_p.S1945S|HIVEP2_ENST00000367603.2_Silent_p.S1945S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1945					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.S1945S(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCACAGGCAAGGAGGAGAATC	0.463																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5833-5835)TCC>TCT		human immunodeficiency virus type I enhancer							81.0	83.0	82.0					6																	143081590		1977	4150	6127	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081590G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5835C>T	6.37:g.143081590G>A							p.S1945S	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6578	-			1945					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.5835C>T	CCDS43510.1																																																																																				0.463	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			8	58	0	0	0	0.000978	0	8	58				
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146247376T>A	ENST00000367505.2	-	16	3522	c.3258A>T	c.(3256-3258)atA>atT	p.I1086I	SHPRH_ENST00000275233.7_Silent_p.I1086I|SHPRH_ENST00000438092.2_Silent_p.I1095I|SHPRH_ENST00000367503.3_Silent_p.I1095I			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1086					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I1095I(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGGTAGGTGGTATCCCTGGGT	0.378																																							uc003qlf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3256-3258)ATA>ATT		SNF2 histone linker PHD RING helicase isoform a							118.0	112.0	114.0					6																	146247376		1893	4113	6006	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146247376T>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3258A>T	6.37:g.146247376T>A						SHPRH_uc003qld.2_Silent_p.I1095I|SHPRH_uc003qle.2_Silent_p.I1095I|SHPRH_uc003qlg.1_Silent_p.I642I|SHPRH_uc003qlh.2_Silent_p.I11I|SHPRH_uc003qli.1_Silent_p.I11I	p.I1086I	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	16	3657	-		Ovarian(120;0.0365)	1086					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.3258A>T	CCDS43513.2																																																																																				0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		15	37	0	0	0	0.00499	0	15	37				
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146720744C>A	ENST00000282753.1	+	7	2804	c.2569C>A	c.(2569-2571)Cgc>Agc	p.R857S	GRM1_ENST00000355289.4_Missense_Mutation_p.R857S|GRM1_ENST00000492807.2_Missense_Mutation_p.R857S|GRM1_ENST00000392299.2_Missense_Mutation_p.R857S|GRM1_ENST00000361719.2_Missense_Mutation_p.R857S|GRM1_ENST00000507907.1_Missense_Mutation_p.R857S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	857					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R857S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGATGTTGTCCGCATGCATGT	0.527																																							uc010khw.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2569-2571)CGC>AGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						70.0	59.0	62.0					6																	146720744		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720744C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2569C>A	6.37:g.146720744C>A	ENSP00000282753:p.Arg857Ser					GRM1_uc010khv.1_Missense_Mutation_p.R857S|GRM1_uc003qll.2_Missense_Mutation_p.R857S|GRM1_uc011edz.1_Missense_Mutation_p.R857S|GRM1_uc011eea.1_Missense_Mutation_p.R857S	p.R857S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3039	+		Ovarian(120;0.0387)	857			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2569C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509585	0.85282	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88818	-2.39;-2.43;-2.43;-2.39;-2.36;-2.43	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.987;1.0	D	0.94132	0.7389	10	0.62326	D	0.03	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	857;857;857	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	S	857	ENSP00000354896:R857S;ENSP00000376119:R857S;ENSP00000424095:R857S;ENSP00000282753:R857S;ENSP00000347437:R857S;ENSP00000425599:R857S	ENSP00000282753:R857S	R	+	1	0	GRM1	146762437	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	CGC		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	42	1	0	7.03913e-09	0.001368	9.15395e-09	12	42				
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147631360C>T	ENST00000321680.6	+	10	1058	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	STXBP5_ENST00000367481.3_Missense_Mutation_p.T353I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T353I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T24I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	353					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.T353I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGTGTGAAACACCATACCCA	0.353																																							uc003qlz.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1057-1059)ACA>ATA		syntaxin binding protein 5 (tomosyn) isoform b							102.0	102.0	102.0					6																	147631360		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147631360C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1058C>T	6.37:g.147631360C>T	ENSP00000321826:p.Thr353Ile					STXBP5_uc010khz.1_Missense_Mutation_p.T353I|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.T24I	p.T353I	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	10	1219	+		Ovarian(120;0.0164)	353			WD 7.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1058C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441080	0.83993	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.14391	2.52;2.51;2.63;3.13	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.989;0.998	T	0.01648	-1.1304	10	0.87932	D	0	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	353;353;24	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	353;353;353;24	ENSP00000356451:T353I;ENSP00000321826:T353I;ENSP00000356450:T353I;ENSP00000179882:T24I	ENSP00000179882:T24I	T	+	2	0	STXBP5	147673053	1.000000	0.71417	0.979000	0.43373	0.633000	0.38033	7.776000	0.85560	2.820000	0.97059	0.650000	0.86243	ACA		0.353	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			11	20	0	0	0	0.000978	0	11	20				
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	A	C	rs562086945		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147680270A>C	ENST00000321680.6	+	23	2356	c.2356A>C	c.(2356-2358)Att>Ctt	p.I786L	STXBP5_ENST00000367481.3_Missense_Mutation_p.I750L|STXBP5_ENST00000367480.3_Missense_Mutation_p.I733L|STXBP5_ENST00000179882.6_Missense_Mutation_p.I441L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	786					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.I786L(2)|p.I750L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTAACAAGCATTGACAAAGA	0.418																																							uc003qlz.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2356-2358)ATT>CTT		syntaxin binding protein 5 (tomosyn) isoform b							89.0	88.0	89.0					6																	147680270		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680270A>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2356A>C	6.37:g.147680270A>C	ENSP00000321826:p.Ile786Leu					STXBP5_uc010khz.1_Missense_Mutation_p.I750L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.I441L	p.I786L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2517	+		Ovarian(120;0.0164)	786					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2356A>C	CCDS47499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.64|15.64	2.892965|2.892965	0.52121|0.52121	.|.	.|.	ENSG00000164506|ENSG00000164506	ENST00000367475|ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	.|T;T;T;T;T	.|0.25250	.|1.83;1.83;1.81;1.83;1.83	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24890|0.24890	0.0604|0.0604	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.56746	.|0.977;0.969;0.969	.|D;D;D	.|0.67103	.|0.949;0.926;0.919	T|T	0.04065|0.04065	-1.0980|-1.0980	5|10	.|0.11485	.|T	.|0.65	.|.	15.9173|15.9173	0.79531|0.79531	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|750;786;441	.|Q5T5C0-2;Q5T5C0;B3KXX0	.|.;STXB5_HUMAN;.	P|L	111|125;750;786;733;441;110	.|ENSP00000356451:I750L;ENSP00000321826:I786L;ENSP00000356450:I733L;ENSP00000179882:I441L;ENSP00000376112:I110L	.|ENSP00000179882:I441L	H|I	+|+	2|1	0|0	STXBP5|STXBP5	147721963|147721963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.962000|8.962000	0.93254|0.93254	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.418	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			13	41	0	0	0	0.001855	0	13	41				
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:160237602C>A	ENST00000610273.1	+	14	1226	c.1055C>A	c.(1054-1056)gCg>gAg	p.A352E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468																																							uc003qsx.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1054-1056)GCG>GAG		poly(A)-specific ribonuclease (PARN)-like domain							140.0	137.0	138.0					6																	160237602		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237602C>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1055C>A	6.37:g.160237602C>A	ENSP00000476448:p.Ala352Glu					PNLDC1_uc003qsy.1_Missense_Mutation_p.A363E	p.A352E	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	14	1226	+		Breast(66;0.00519)|Ovarian(120;0.123)	352			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1055C>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503151	0.44558	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22945	1.93;1.93	5.61	4.72	0.59763	Ribonuclease H-like (1);	0.087082	0.49916	D	0.000134	T	0.31482	0.0798	M	0.63843	1.955	0.24009	N	0.996184	D;D	0.64830	0.992;0.994	P;P	0.60949	0.865;0.881	T	0.16571	-1.0398	10	0.87932	D	0	.	14.5927	0.68378	0.0:0.7243:0.2757:0.0	.	363;352	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	E	352;363	ENSP00000275275:A352E;ENSP00000376007:A363E	ENSP00000275275:A352E	A	+	2	0	PNLDC1	160157592	0.751000	0.28327	0.000000	0.03702	0.377000	0.30045	1.241000	0.32743	1.335000	0.45486	0.555000	0.69702	GCG		0.468	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		77	136	1	0	7.83748e-43	0.00361	1.44786e-42	77	136				
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:5103997C>T	ENST00000353796.3	+	6	1234	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	RBAK_ENST00000396912.1_Missense_Mutation_p.L304F|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	304					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L304F(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAGGGAACCCTCACTGTACA	0.418																																							uc010kss.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(910-912)CTC>TTC		RB-associated KRAB repressor							70.0	73.0	72.0					7																	5103997		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103997C>T	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.910C>T	7.37:g.5103997C>T	ENSP00000275423:p.Leu304Phe					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.L304F	p.L304F	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1234	+		Ovarian(82;0.0175)	304			C2H2-type 2.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.910C>T	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708999	0.48517	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.52057	0.68;0.68	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000339	T	0.68869	0.3048	M	0.83384	2.64	0.34882	D	0.744647	D	0.71674	0.998	D	0.77004	0.989	T	0.77446	-0.2585	8	.	.	.	.	13.8561	0.63527	0.0:1.0:0.0:0.0	.	304	Q9NYW8	RBAK_HUMAN	F	304	ENSP00000275423:L304F;ENSP00000380120:L304F	.	L	+	1	0	RBAK	5070523	0.029000	0.19370	1.000000	0.80357	0.997000	0.91878	0.607000	0.24209	2.386000	0.81285	0.555000	0.69702	CTC		0.418	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		18	59	0	0	0	0.00499	0	18	59				
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTGTAACTCAGAGACCACTAA	0.348																																							uc011jxz.1		NA																	2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1147-1149)CAG>CAC		aryl hydrocarbon receptor precursor							71.0	63.0	66.0					7																	17375399		2202	4300	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17375399G>C	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1149G>C	7.37:g.17375399G>C	ENSP00000242057:p.Gln383His					AHR_uc003stt.3_RNA	p.Q383H	NM_001621	NP_001612	P35869	AHR_HUMAN			9	1762	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		383			PAC.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1149G>C	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930150	0.52759	.	.	ENSG00000106546	ENST00000242057	T	0.05447	3.44	5.98	-1.41	0.08941	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.43152	1.355	0.44798	D	0.997802	B	0.28128	0.201	B	0.31390	0.129	T	0.22277	-1.0221	10	0.62326	D	0.03	.	12.8346	0.57765	0.6126:0.0:0.3874:0.0	.	383	P35869	AHR_HUMAN	H	383	ENSP00000242057:Q383H	ENSP00000242057:Q383H	Q	+	3	2	AHR	17341924	0.995000	0.38212	0.977000	0.42913	0.859000	0.49053	0.361000	0.20267	-0.292000	0.08999	0.591000	0.81541	CAG		0.348	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		4	31	0	0	0	0.009096	0	4	31				
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:32209435C>A	ENST00000396193.1	-	3	863	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGCTATCCAGCTGTGGCAATT	0.483																																							uc003tco.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(268-270)CAG>CAT		phosphodiesterase 1C							117.0	102.0	106.0					7																	32209435		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209435C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.270G>T	7.37:g.32209435C>A	ENSP00000379496:p.Gln90His						p.Q90H	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	864	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.270G>T	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413640	0.42817	.	.	ENSG00000154678	ENST00000396193	T	0.72835	-0.69	5.75	1.37	0.22104	.	5.499220	0.02840	U	0.127886	T	0.52996	0.1769	N	0.08118	0	0.28207	N	0.927091	P	0.39576	0.679	B	0.38500	0.275	T	0.52381	-0.8583	10	0.54805	T	0.06	.	6.4671	0.21987	0.1215:0.5252:0.0:0.3533	.	90	E9PE92	.	H	90	ENSP00000379496:Q90H	ENSP00000379496:Q90H	Q	-	3	2	PDE1C	32175960	0.001000	0.12720	0.997000	0.53966	0.975000	0.68041	-1.024000	0.03603	0.354000	0.24105	0.655000	0.94253	CAG		0.483	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			12	77	1	0	4.92203e-23	0.00623	8.24509e-23	12	77				
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:34867133T>A	ENST00000360581.1	+	5	727	c.599T>A	c.(598-600)cTg>cAg	p.L200Q	NPSR1_ENST00000531252.1_Missense_Mutation_p.L189Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.L200Q|NPSR1_ENST00000381542.1_Missense_Mutation_p.L134Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.L200Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	200						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.L200Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTGGGCCCTGTGGCCTGAC	0.532																																							uc003teg.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(3)|pancreas(1)	4						c.(598-600)CTG>CAG		G protein-coupled receptor for asthma	Halothane(DB01159)						159.0	137.0	145.0					7																	34867133		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34867133T>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.599T>A	7.37:g.34867133T>A	ENSP00000353788:p.Leu200Gln					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L200Q|NPSR1_uc010kwt.1_Missense_Mutation_p.L47Q|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.L134Q|NPSR1_uc003tei.1_Missense_Mutation_p.L200Q|NPSR1_uc010kww.1_Missense_Mutation_p.L189Q|NPSR1_uc011kar.1_Missense_Mutation_p.L134Q|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.L200Q	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			5	727	+			200			Extracellular (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.599T>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820093	0.50633	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.125415	0.36409	N	0.002608	T	0.50905	0.1643	L	0.41236	1.265	0.48135	D	0.999591	D;D;D;B;D;B	0.65815	0.995;0.976;0.993;0.054;0.97;0.056	D;P;P;B;P;B	0.65874	0.939;0.792;0.865;0.064;0.714;0.098	T	0.39057	-0.9632	10	0.13470	T	0.59	-5.9746	14.6901	0.69080	0.0:0.0:0.0:1.0	.	134;189;134;200;200;200	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	Q	200;134;200;189;200;63	ENSP00000353788:L200Q;ENSP00000370953:L134Q;ENSP00000352839:L200Q;ENSP00000433258:L189Q;ENSP00000370950:L200Q	ENSP00000334093:L63Q	L	+	2	0	NPSR1	34833658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.065000	0.61736	0.533000	0.62120	CTG		0.532	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		17	156	0	0	0	0.007413	0	17	156				
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:43447290A>T	ENST00000395891.2	+	8	1366	c.761A>T	c.(760-762)aAg>aTg	p.K254M	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.K254M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	254	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K254M(2)|p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAGATCCAAGATCATAGGC	0.522																																							uc003tid.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(760-762)AAG>ATG		NEDD4-like ubiquitin-protein ligase 1							62.0	63.0	63.0					7																	43447290		1947	4165	6112	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43447290A>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.761A>T	7.37:g.43447290A>T	ENSP00000379228:p.Lys254Met					HECW1_uc011kbi.1_Missense_Mutation_p.K254M|HECW1_uc003tie.1_Missense_Mutation_p.K286M	p.K254M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			8	1366	+			254			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.761A>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930257	0.73327	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.71934	-0.61;-0.61	5.35	2.84	0.33178	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.417387	0.29028	N	0.013361	T	0.67477	0.2897	N	0.24115	0.695	0.30528	N	0.767757	P;P;P	0.43633	0.773;0.794;0.813	P;P;P	0.53224	0.65;0.601;0.721	T	0.68070	-0.5506	10	0.56958	D	0.05	.	11.7971	0.52106	0.7102:0.2898:0.0:0.0	.	254;286;254	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	M	254;254;253	ENSP00000379228:K254M;ENSP00000407774:K254M	ENSP00000265522:K253M	K	+	2	0	HECW1	43413815	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	1.647000	0.37260	0.286000	0.22352	0.460000	0.39030	AAG		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		42	64	0	0	0	0.002852	0	42	64				
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48318349G>T	ENST00000435803.1	+	18	7582	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D2465Y(2)|p.D2520Y(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACATCAATGGACTCCATTGT	0.428																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7558-7560)GAC>TAC		ATP binding cassette, sub-family A (ABC1),							179.0	179.0	179.0					7																	48318349		1869	4098	5967	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318349G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7558G>T	7.37:g.48318349G>T	ENSP00000411096:p.Asp2520Tyr					ABCA13_uc010kys.1_5'Flank	p.D2520Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7583	+			2520					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7558G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522280	0.44866	.	.	ENSG00000179869	ENST00000435803	T	0.57595	0.39	4.87	0.734	0.18294	.	0.931184	0.08886	N	0.879279	T	0.51126	0.1656	L	0.29908	0.895	0.09310	N	1	D	0.58970	0.984	P	0.57371	0.819	T	0.39742	-0.9599	10	0.87932	D	0	.	4.6367	0.12528	0.2358:0.0:0.5899:0.1743	.	2520	Q86UQ4	ABCAD_HUMAN	Y	2520	ENSP00000411096:D2520Y	ENSP00000411096:D2520Y	D	+	1	0	ABCA13	48288895	0.023000	0.18921	0.004000	0.12327	0.053000	0.15095	0.936000	0.28938	-0.167000	0.10871	0.655000	0.94253	GAC		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		108	147	1	0	1.13638e-54	0.00361	2.14609e-54	108	147				
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48550739A>T	ENST00000435803.1	+	51	13608	c.13584A>T	c.(13582-13584)acA>acT	p.T4528T	ABCA13_ENST00000544596.1_Silent_p.T258T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4528					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T4473T(2)|p.T4528T(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCAGTTAACAGCTTTTACTT	0.458																																							uc003toq.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13582-13584)ACA>ACT		ATP binding cassette, sub-family A (ABC1),							121.0	116.0	118.0					7																	48550739		1957	4147	6104	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550739A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13584A>T	7.37:g.48550739A>T						ABCA13_uc010kys.1_Silent_p.T1603T|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.T258T	p.T4528T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			51	13609	+			4528					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13584A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522009	0.27211	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.17	-1.64	0.08318	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38329	-0.9666	4	.	.	.	.	5.9499	0.19239	0.6551:0.1292:0.2157:0.0	.	.	.	.	C	49	.	.	S	+	1	0	ABCA13	48521285	0.916000	0.31088	0.972000	0.41901	0.989000	0.77384	0.053000	0.14184	-0.467000	0.06932	0.460000	0.39030	AGC		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	97	0	0	0	0.001855	0	12	97				
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:55912411C>A	ENST00000388975.3	-	4	292	c.176G>T	c.(175-177)gGg>gTg	p.G59V	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.G59V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTCTCCCCTGTAATAGA	0.343																																							uc003tqz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)GGG>GTG		septin 14							42.0	39.0	40.0					7																	55912411		1837	4084	5921	SO:0001630	splice_region_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55912411C>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.176-1G>T	7.37:g.55912411C>A							p.G59V	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	293	-	Breast(14;0.214)		59			GTP (By similarity).		A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.176G>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	19.16	3.772962	0.69992	.	.	ENSG00000154997	ENST00000388975	D	0.90197	-2.63	4.04	4.04	0.47022	.	0.109437	0.38111	N	0.001810	D	0.97253	0.9102	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98485	1.0607	10	0.87932	D	0	.	14.5076	0.67762	0.0:1.0:0.0:0.0	.	59	Q6ZU15	SEP14_HUMAN	V	59	ENSP00000373627:G59V	ENSP00000373627:G59V	G	-	2	0	SEPT14	55879905	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	6.488000	0.73637	2.177000	0.69029	0.655000	0.94253	GGG		0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	Missense_Mutation	4	23	1	0	0.000602214	0.000602	0.000662548	4	23				
ZNF716	441234	broad.mit.edu	37	7	57529052	57529052	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:57529052C>A	ENST00000420713.1	+	4	997	c.885C>A	c.(883-885)ccC>ccA	p.P295P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	295					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.P295P(4)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACATGTG	0.413																																							uc011kdi.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(883-885)CCC>CCA		zinc finger protein 716							38.0	38.0	38.0					7																	57529052		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57529052C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.885C>A	7.37:g.57529052C>A							p.P295P	NM_001159279	NP_001152751					4	997	+									Silent	SNP	ENST00000420713.1	37	c.885C>A	CCDS55112.1																																																																																				0.413	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		10	15	1	0	1.58986e-06	0.008291	1.92799e-06	10	15				
NCF1B	654816	broad.mit.edu	37	7	72645953	72645953	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:72645953G>A	ENST00000423083.1	+	0	988					NR_003186.1		A6NI72	NCF1B_HUMAN	neutrophil cytosolic factor 1B pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175)										GACGGCTGGTGGGTCATCAGG	0.612																																							uc011kes.1		NA																	0					0						c.(712-714)TGG>TAG		neutrophil cytosolic factor 1																																						654816							g.chr7:72645953G>A			7q11.23	2014-03-20	2006-09-19		ENSG00000182487	ENSG00000182487			32522	pseudogene	pseudogene			"""neutrophil cytosolic factor 1B"""				Standard	NR_003186		Approved	SH3PXD1B	uc011ker.1	A6NI72	OTTHUMG00000156804		7.37:g.72645953G>A						FKBP6_uc003twz.2_Intron	p.W238*	NM_000265	NP_000256					7	717	+									Nonsense_Mutation	SNP	ENST00000423083.1	37	c.713G>A																																																																																					0.612	NCF1B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345924.1	NR_003186		33	18	0	0	0	0.00361	0	33	18				
MAGI2	9863	broad.mit.edu	37	7	77789402	77789402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:77789402C>T	ENST00000354212.4	-	16	3038	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E929K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E915K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	929	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.E929K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGAAGCCCTCATTCTCTTTG	0.532																																							uc003ugx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2785-2787)GAG>AAG		membrane associated guanylate kinase, WW and PDZ							104.0	96.0	99.0					7																	77789402		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77789402C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2785G>A	7.37:g.77789402C>T	ENSP00000346151:p.Glu929Lys					MAGI2_uc003ugy.2_Missense_Mutation_p.E915K|MAGI2_uc010ldx.1_Missense_Mutation_p.E522K	p.E929K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			16	3039	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	929			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2785G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338099	0.95758	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.29142	1.58;1.58;1.58	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	0.000000	0.37393	U	0.002102	T	0.51770	0.1694	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.91635	0.995;0.999;0.994	T	0.52449	-0.8574	10	0.87932	D	0	.	19.1358	0.93428	0.0:1.0:0.0:0.0	.	929;915;929	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	915;929;929;929	ENSP00000405766:E915K;ENSP00000346151:E929K;ENSP00000428389:E929K	ENSP00000346151:E929K	E	-	1	0	MAGI2	77627338	1.000000	0.71417	0.984000	0.44739	0.928000	0.56348	7.484000	0.81180	2.519000	0.84933	0.585000	0.79938	GAG		0.532	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	139	0	0	0	0.00308	0	7	139				
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:81331986G>T	ENST00000222390.5	-	18	2324	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	HGF_ENST00000457544.2_Missense_Mutation_p.P695T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	700	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.P700T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGACGATTTGGAATGGCACAT	0.398																																							uc003uhl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(2098-2100)CCA>ACA		hepatocyte growth factor isoform 1							131.0	123.0	126.0					7																	81331986		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81331986G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2098C>A	7.37:g.81331986G>T	ENSP00000222390:p.Pro700Thr					HGF_uc003uhm.2_Missense_Mutation_p.P695T	p.P700T	NM_000601	NP_000592	P14210	HGF_HUMAN			18	2263	-			700			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2098C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251433	0.39797	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88664	-2.41;-2.41	4.96	4.07	0.47477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.313576	0.35805	N	0.002976	D	0.85517	0.5715	L	0.39566	1.225	0.80722	D	1	B;B	0.16603	0.015;0.018	B;B	0.26094	0.039;0.066	T	0.81484	-0.0912	10	0.44086	T	0.13	.	15.5677	0.76306	0.0:0.1386:0.8614:0.0	.	695;700	P14210-3;P14210	.;HGF_HUMAN	T	700;695	ENSP00000222390:P700T;ENSP00000391238:P695T	ENSP00000222390:P700T	P	-	1	0	HGF	81169922	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.916000	0.56416	1.204000	0.43247	0.655000	0.94253	CCA		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		29	17	1	0	1.32181e-22	0.007291	2.20798e-22	29	17				
CACNA2D1	781	broad.mit.edu	37	7	81594951	81594951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:81594951C>A	ENST00000356253.5	-	32	2824	c.2569G>T	c.(2569-2571)Ggg>Tgg	p.G857W	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G845W|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G57W			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	857					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G845W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGAAGAAACCCACCATCATCC	0.373																																							uc003uhr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(2533-2535)GGG>TGG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						156.0	139.0	145.0					7																	81594951		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594951C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2569G>T	7.37:g.81594951C>A	ENSP00000348589:p.Gly857Trp					CACNA2D1_uc011kgy.1_Missense_Mutation_p.G57W	p.G845W	NM_000722	NP_000713	P54289	CA2D1_HUMAN			32	2789	-			857			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2533G>T		.	.	.	.	.	.	.	.	.	.	C	18.54	3.645706	0.67358	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.78481	-1.18;-1.18;-1.18	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90833	0.4718	10	0.87932	D	0	-13.0781	18.672	0.91514	0.0:1.0:0.0:0.0	.	57;845	B7Z658;P54289-2	.;.	W	845;864;857;57	ENSP00000349320:G845W;ENSP00000348589:G857W;ENSP00000443124:G57W	ENSP00000284088:G864W	G	-	1	0	CACNA2D1	81432887	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.561000	0.67339	2.407000	0.81776	0.591000	0.81541	GGG		0.373	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				5	29	1	0	1.23904e-05	0.000602	1.44069e-05	5	29				
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:93518469T>C	ENST00000222543.5	-	3	650	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TFPI2_ENST00000545378.1_Intron|AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	113	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y113C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTAAAGAAATACTTTTCTGT	0.443																																							uc003umy.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(337-339)TAT>TGT		tissue factor pathway inhibitor 2 precursor							74.0	85.0	82.0					7																	93518469		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93518469T>C	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.338A>G	7.37:g.93518469T>C	ENSP00000222543:p.Tyr113Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.Y113C|TFPI2_uc003una.1_Missense_Mutation_p.Y102C|TFPI2_uc003unb.1_Missense_Mutation_p.Y113C|TFPI2_uc010lfg.1_Intron	p.Y113C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	413	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		113			BPTI/Kunitz inhibitor 2.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.338A>G	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122464	0.37436	.	.	ENSG00000105825	ENST00000222543;ENST00000451238	T;T	0.66099	-0.15;-0.19	5.17	3.99	0.46301	Proteinase inhibitor I2, Kunitz metazoa (5);	0.060450	0.64402	D	0.000002	D	0.84261	0.5433	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86347	0.1708	10	0.52906	T	0.07	.	10.9572	0.47364	0.1447:0.0:0.0:0.8553	.	102;113	Q8NAK6;P48307	.;TFPI2_HUMAN	C	113;34	ENSP00000222543:Y113C;ENSP00000416370:Y34C	ENSP00000222543:Y113C	Y	-	2	0	TFPI2	93356405	1.000000	0.71417	0.719000	0.30619	0.010000	0.07245	3.243000	0.51392	0.880000	0.35969	0.383000	0.25322	TAT		0.443	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		55	183	0	0	0	0.00361	0	55	183				
MUC17	140453	broad.mit.edu	37	7	100677932	100677932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100677932G>A	ENST00000306151.4	+	3	3299	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1079	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1079T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTATTCTCAAGCCAGTTCATC	0.502																																							uc003uxp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3235-3237)GCC>ACC		mucin 17 precursor							447.0	372.0	398.0					7																	100677932		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677932G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3235G>A	7.37:g.100677932G>A	ENSP00000302716:p.Ala1079Thr					MUC17_uc010lho.1_RNA	p.A1079T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3288	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1079			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3235G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104804	0.06967	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.74	-0.383	0.12477	.	.	.	.	.	T	0.01905	0.0060	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.49570	-0.8926	9	0.09843	T	0.71	.	3.9628	0.09418	0.5138:0.0:0.4862:0.0	.	1079	Q685J3	MUC17_HUMAN	T	1079	ENSP00000302716:A1079T	ENSP00000302716:A1079T	A	+	1	0	MUC17	100464652	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-6.224000	0.00075	-0.125000	0.11703	0.134000	0.15878	GCC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		335	444	0	0	0	0.00361	0	335	444				
MUC17	140453	broad.mit.edu	37	7	100685898	100685898	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100685898C>G	ENST00000306151.4	+	3	11265	c.11201C>G	c.(11200-11202)tCt>tGt	p.S3734C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3734	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCATTTCATCTTCTGCAACT	0.507																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11200-11202)TCT>TGT		mucin 17 precursor							229.0	211.0	217.0					7																	100685898		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685898C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11201C>G	7.37:g.100685898C>G	ENSP00000302716:p.Ser3734Cys					MUC17_uc010lho.1_RNA	p.S3734C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11254	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3734			Extracellular (Potential).|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11201C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.811	0.715808	0.15306	.	.	ENSG00000169876	ENST00000306151	T	0.02140	4.43	2.2	2.2	0.27929	.	.	.	.	.	T	0.05044	0.0135	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.44952	-0.9294	9	0.59425	D	0.04	.	7.8869	0.29655	0.0:1.0:0.0:0.0	.	3734	Q685J3	MUC17_HUMAN	C	3734	ENSP00000302716:S3734C	ENSP00000302716:S3734C	S	+	2	0	MUC17	100472618	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.216000	0.09266	1.239000	0.43787	0.423000	0.28283	TCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	321	0	0	0	0.009096	0	4	321				
COL26A1	136227	broad.mit.edu	37	7	101183242	101183242	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101183242T>G	ENST00000397927.3	+	0	729				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T172T(2)									CCGAGAGCACTCCGCCGACCT	0.657																																							uc010lhy.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(508-510)ACT>ACG		EMI domain containing 2							47.0	58.0	54.0					7																	101183242		2077	4200	6277			136227					collagen		g.chr7:101183242T>G	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101183242T>G						EMID2_uc003uyo.1_Silent_p.T172T	p.T170T	NM_133457	NP_597714	Q96A83	EMID2_HUMAN			5	702	+	Lung NSC(181;0.215)		172					Q32M90	Silent	SNP	ENST00000397927.3	37	c.510T>G																																																																																					0.657	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		33	25	0	0	0	0.004878	0	33	25				
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101870904G>T	ENST00000292535.7	+	21	3426	c.3388G>T	c.(3388-3390)Ggc>Tgc	p.G1130C	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G972C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G1141C|CUX1_ENST00000549414.2_Missense_Mutation_p.G1108C|CUX1_ENST00000550008.2_Missense_Mutation_p.G1074C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1028C|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1130					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G1130C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACACCTACGGCATAACCAA	0.607																																							uc003uyx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3388-3390)GGC>TGC		cut-like homeobox 1 isoform a							61.0	63.0	62.0					7																	101870904		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870904G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3388G>T	7.37:g.101870904G>T	ENSP00000292535:p.Gly1130Cys					CUX1_uc003uys.3_Missense_Mutation_p.G1141C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.G1130C	NM_181552	NP_853530	P39880	CUX1_HUMAN			21	3426	+			1130			CUT 3.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3388G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786105	0.90282	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59906	0.24;0.24;0.24;0.24;0.24;0.23	5.75	5.75	0.90469	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.058323	0.64402	D	0.000001	T	0.66992	0.2846	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	T	0.69617	-0.5097	10	0.62326	D	0.03	-26.1851	19.942	0.97168	0.0:0.0:1.0:0.0	.	1130;1141	P39880;P39880-3	CUX1_HUMAN;.	C	1141;1130;1108;1074;1028;972	ENSP00000353401:G1141C;ENSP00000292535:G1130C;ENSP00000446630:G1108C;ENSP00000447373:G1074C;ENSP00000450125:G1028C;ENSP00000451558:G972C	ENSP00000292535:G1130C	G	+	1	0	CUX1	101657624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.714000	0.92807	0.561000	0.74099	GGC		0.607	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		26	82	1	0	3.69857e-22	0.008361	6.14356e-22	26	82				
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:103137039G>T	ENST00000428762.1	-	56	9286	c.9127C>A	c.(9127-9129)Ctg>Atg	p.L3043M	RELN_ENST00000424685.2_Missense_Mutation_p.L3043M|RELN_ENST00000343529.5_Missense_Mutation_p.L3043M|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3043					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L3043M(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGTTGTCCAGTGCCCACTGA	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9127-9129)CTG>ATG		reelin isoform a							127.0	110.0	116.0					7																	103137039		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137039G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9127C>A	7.37:g.103137039G>T	ENSP00000392423:p.Leu3043Met					RELN_uc010liz.2_Missense_Mutation_p.L3043M	p.L3043M	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	56	9287	-			3043					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9127C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402776	0.62288	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.30981	1.51;1.51;1.51	5.84	3.67	0.42095	Neuraminidase (2);	0.069940	0.64402	D	0.000016	T	0.49983	0.1589	M	0.64170	1.965	0.36835	D	0.887102	D;D	0.76494	0.996;0.999	D;D	0.79784	0.953;0.993	T	0.60566	-0.7238	10	0.72032	D	0.01	.	11.8544	0.52429	0.0728:0.0:0.8021:0.1251	.	3043;3043	P78509-2;P78509	.;RELN_HUMAN	M	3043;3043;3043;560;3043	ENSP00000392423:L3043M;ENSP00000345694:L3043M;ENSP00000388446:L3043M	ENSP00000345694:L3043M	L	-	1	2	RELN	102924275	1.000000	0.71417	0.279000	0.24732	0.953000	0.61014	3.371000	0.52379	1.430000	0.47334	0.650000	0.86243	CTG		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		54	45	1	0	9.86064e-34	0.00361	1.76657e-33	54	45				
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:127670602A>G	ENST00000249363.3	-	2	349	c.92T>C	c.(91-93)cTg>cCg	p.L31P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L31P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCTGCACACAGAATCCACAC	0.622																																							uc003vmk.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(91-93)CTG>CCG		leucine rich repeat containing 4 precursor							71.0	73.0	72.0					7																	127670602		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670602A>G	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.92T>C	7.37:g.127670602A>G	ENSP00000249363:p.Leu31Pro					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.L31P	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	229	-			31					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.92T>C	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652039	0.29336	.	.	ENSG00000128594	ENST00000249363;ENST00000476782;ENST00000478726	T;T	0.67171	-0.25;1.61	4.66	4.66	0.58398	.	0.587019	0.15994	N	0.234653	T	0.44159	0.1280	N	0.08118	0	0.51233	D	0.999917	B	0.02656	0.0	B	0.04013	0.001	T	0.42882	-0.9425	10	0.62326	D	0.03	.	6.8436	0.23977	0.8984:0.0:0.1016:0.0	.	31	Q9HBW1	LRRC4_HUMAN	P	31	ENSP00000249363:L31P;ENSP00000418093:L31P	ENSP00000249363:L31P	L	-	2	0	LRRC4	127457838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.609000	0.46317	1.923000	0.55706	0.533000	0.62120	CTG		0.622	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		93	54	0	0	0	0.00361	0	93	54				
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	C	A	rs56132157		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:139285223C>A	ENST00000406875.3	-	11	2469	c.2375G>T	c.(2374-2376)cGg>cTg	p.R792L	HIPK2_ENST00000342645.6_Missense_Mutation_p.R792L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R765L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	792	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.		R -> Q. {ECO:0000269|PubMed:17344846}.		adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.R792L(4)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGCTGCCGCATCACGTG	0.567																																							uc003vvf.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(2374-2376)CGG>CTG		homeodomain interacting protein kinase 2 isoform							88.0	93.0	91.0					7																	139285223		2137	4237	6374	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285223C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2375G>T	7.37:g.139285223C>A	ENSP00000385571:p.Arg792Leu					HIPK2_uc003vvd.3_Missense_Mutation_p.R765L	p.R792L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			11	2549	-	Melanoma(164;0.205)		792		R -> Q.	Interaction with HMGA1 (By similarity).|Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).|Interaction with CTBP1 (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2375G>T		.	.	.	.	.	.	.	.	.	.	C	19.79	3.893733	0.72639	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.28069	1.63;1.63;1.63	4.84	4.84	0.62591	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.53688	D	0.99997	D;D	0.65815	0.995;0.992	D;D	0.72982	0.968;0.979	T	0.51309	-0.8722	8	0.36615	T	0.2	.	18.4978	0.90872	0.0:1.0:0.0:0.0	.	792;765	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	792;765;792	ENSP00000385571:R792L;ENSP00000413724:R765L;ENSP00000343108:R792L	ENSP00000343108:R792L	R	-	2	0	HIPK2	138935763	1.000000	0.71417	0.999000	0.59377	0.761000	0.43186	7.272000	0.78516	2.675000	0.91044	0.650000	0.86243	CGG		0.567	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		22	75	1	0	1.10923e-09	0.00278	1.47483e-09	22	75				
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142459828C>A	ENST00000311737.7	+	3	410	c.404C>A	c.(403-405)aCt>aAt	p.T135N	PRSS1_ENST00000486171.1_Missense_Mutation_p.T149N	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.T135N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCTCCAGCCACTGGCACGAAG	0.557																																							uc003wak.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(403-405)ACT>AAT		protease, serine, 1 preproprotein							65.0	71.0	69.0					7																	142459828		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459828C>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.404C>A	7.37:g.142459828C>A	ENSP00000308720:p.Thr135Asn					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.T75N	p.T135N	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	421	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	135			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.404C>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	9.370	1.070159	0.20147	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88431	-2.38;-2.38;-2.38	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.266285	0.42420	D	0.000718	T	0.78483	0.4290	N	0.03891	-0.335	0.24394	N	0.99473	B;B	0.15930	0.015;0.015	B;B	0.30495	0.116;0.116	T	0.73509	-0.3960	10	0.66056	D	0.02	.	14.0086	0.64481	0.0:1.0:0.0:0.0	.	149;135	E7EQ64;P07477	.;TRY1_HUMAN	N	149;135;125;85	ENSP00000417854:T149N;ENSP00000308720:T135N;ENSP00000419912:T85N	ENSP00000308720:T135N	T	+	2	0	PRSS1	142139402	0.267000	0.24122	0.346000	0.25655	0.009000	0.06853	4.682000	0.61671	1.789000	0.52484	0.398000	0.26397	ACT		0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			45	26	1	0	1.38705e-31	0.00361	2.4335e-31	45	26				
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:147914552C>G	ENST00000361727.3	+	19	3699	c.3183C>G	c.(3181-3183)ccC>ccG	p.P1061P	CNTNAP2_ENST00000538075.1_Silent_p.P120P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P1061P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGGCGCCCTGCATTCTCC	0.567										HNSCC(39;0.1)																													uc003weu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3181-3183)CCC>CCG		cell recognition molecule Caspr2 precursor							111.0	100.0	104.0					7																	147914552		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914552C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3183C>G	7.37:g.147914552C>G		HNSCC(39;0.1)					p.P1061P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3699	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1061			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3183C>G	CCDS5889.1																																																																																				0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			41	125	0	0	0	0.007835	0	41	125				
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	G	C	rs201627778		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:150645550G>C	ENST00000262186.5	-	11	3075	c.2674C>G	c.(2674-2676)Cgc>Ggc	p.R892G	KCNH2_ENST00000392968.2_Missense_Mutation_p.R796G|KCNH2_ENST00000330883.4_Missense_Mutation_p.R552G	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	892					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.R892G(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTGCGCCTGCGGAAGGACAAC	0.647																																					GBM(137;110 1844 13671 20123 45161)	GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2674-2676)CGC>GGC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						45.0	43.0	44.0					7																	150645550		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150645550G>C	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2674C>G	7.37:g.150645550G>C	ENSP00000262186:p.Arg892Gly					KCNH2_uc003wib.2_Missense_Mutation_p.R552G|KCNH2_uc011kux.1_Missense_Mutation_p.R796G	p.R892G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2687	-	all_neural(206;0.219)		892			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2674C>G	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460462	0.63401	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.98717	-4.79;-4.88;-5.09	3.87	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	M	0.66939	2.045	0.80722	D	1	D;P;B	0.63880	0.993;0.662;0.299	D;B;B	0.71184	0.972;0.259;0.048	D	0.98023	1.0372	10	0.27082	T	0.32	.	13.6994	0.62599	0.0:0.0:1.0:0.0	.	796;892;552	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	G	552;796;892	ENSP00000328531:R552G;ENSP00000376695:R796G;ENSP00000262186:R892G	ENSP00000262186:R892G	R	-	1	0	KCNH2	150276483	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.735000	0.38176	2.172000	0.68678	0.491000	0.48974	CGC		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		19	47	0	0	0	0.007413	0	19	47				
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:153584797C>T	ENST00000404039.1	+	1	616	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A10V(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCAAGACCGCTAAGATGCAG	0.577																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wli.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|breast(1)	4						c.(28-30)GCT>GTT		dipeptidyl-peptidase 6 isoform 3							63.0	60.0	61.0					7																	153584797		1568	3582	5150	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:153584797C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.29C>T	7.37:g.153584797C>T	ENSP00000385578:p.Ala10Val						p.A10V	NM_001039350	NP_001034439	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		1	379	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	Error:Variant_position_missing_in_P42658_after_alignment						Missense_Mutation	SNP	ENST00000404039.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	C	15.42	2.829622	0.50845	.	.	ENSG00000130226	ENST00000404039	T	0.14144	2.53	4.93	4.04	0.47022	.	.	.	.	.	T	0.12390	0.0301	.	.	.	0.80722	D	1	D	0.54207	0.965	B	0.39068	0.289	T	0.02958	-1.1089	8	0.66056	D	0.02	.	10.5703	0.45196	0.193:0.807:0.0:0.0	.	10	E9PF59	.	V	10	ENSP00000385578:A10V	ENSP00000385578:A10V	A	+	2	0	DPP6	153215730	1.000000	0.71417	0.818000	0.32626	0.964000	0.63967	3.702000	0.54800	1.043000	0.40175	0.557000	0.71058	GCT		0.577	DPP6-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000322930.1	NM_130797		13	68	0	0	0	0.001855	0	13	68				
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:154862701C>G	ENST00000287907.2	+	1	668	c.92C>G	c.(91-93)cCc>cGc	p.P31R	HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	31					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P31R(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GACCTGCGCCCCAGCTCGCCC	0.612																																							uc003wlu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(91-93)CCC>CGC		5-hydroxytryptamine receptor 5A							99.0	96.0	97.0					7																	154862701		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862701C>G		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.92C>G	7.37:g.154862701C>G	ENSP00000287907:p.Pro31Arg					uc011kvt.1_Intron|uc003wlt.2_Intron	p.P31R	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	156	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	31			Extracellular (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.92C>G	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	8.771	0.925971	0.18056	.	.	ENSG00000157219	ENST00000287907	T	0.36878	1.23	4.74	3.84	0.44239	.	0.749302	0.12336	N	0.477946	T	0.17831	0.0428	N	0.08118	0	0.25155	N	0.9904	B	0.02656	0.0	B	0.04013	0.001	T	0.23119	-1.0197	10	0.16420	T	0.52	.	8.4771	0.33021	0.1556:0.7631:0.0:0.0813	.	31	P47898	5HT5A_HUMAN	R	31	ENSP00000287907:P31R	ENSP00000287907:P31R	P	+	2	0	HTR5A	154493634	0.033000	0.19621	0.015000	0.15790	0.176000	0.22953	2.096000	0.41738	1.178000	0.42870	0.467000	0.42956	CCC		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		32	112	0	0	0	0.005524	0	32	112				
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:157997861A>C	ENST00000389418.4	-	4	390		c.e4+1		PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389413.3_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCACACTTACCTGGCTGGG	0.488																																							uc003wno.2		NA																	2	Unknown(2)		lung(2)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.e4+1		protein tyrosine phosphatase, receptor type, N							127.0	109.0	115.0					7																	157997861		2203	4300	6503	SO:0001630	splice_region_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157997861A>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.380+1T>G	7.37:g.157997861A>C						PTPRN2_uc003wnp.2_Splice_Site_p.R110_splice|PTPRN2_uc003wnq.2_Splice_Site_p.R127_splice|PTPRN2_uc003wnr.2_Splice_Site_p.R89_splice|PTPRN2_uc011kwa.1_Splice_Site_p.R150_splice	p.R127_splice	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	4	501	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)						E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Splice_Site	SNP	ENST00000389418.4	37	c.380_splice	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.565322	0.27915	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0646	0.59025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN2	157690622	1.000000	0.71417	0.909000	0.35828	0.003000	0.03518	4.786000	0.62425	1.960000	0.56953	0.460000	0.39030	.		0.488	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		Intron	18	62	0	0	0	0.002445	0	18	62				
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:1581027C>A	ENST00000421627.2	+	5	1519	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567																																							uc003wpl.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1384-1386)TCC>TAC		discs large-associated protein 2							106.0	116.0	112.0					8																	1581027		2188	4273	6461	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1581027C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1385C>A	8.37:g.1581027C>A	ENSP00000400258:p.Ser462Tyr					DLGAP2_uc003wpm.2_Missense_Mutation_p.S462Y	p.S462Y	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	5	1482	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	541					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1385C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.95|19.95	3.921111|3.921111	0.73213|0.73213	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.20738	.|2.05	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52370|0.52370	0.1730|0.1730	M|M	0.82323|0.82323	2.585|2.585	0.52099|0.52099	D|D	0.999942|0.999942	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.59526|0.59526	-0.7438|-0.7438	5|10	.|0.87932	.|D	.|0	-10.7811|-10.7811	18.7837|18.7837	0.91946|0.91946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|541;541	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	T|Y	479|507;462	.|ENSP00000400258:S462Y	.|ENSP00000348366:S507Y	P|S	+|+	1|2	0|0	DLGAP2|DLGAP2	1568434|1568434	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.343000|0.343000	0.28985|0.28985	7.354000|7.354000	0.79424|0.79424	2.475000|2.475000	0.83589|0.83589	0.555000|0.555000	0.69702|0.69702	CCG|TCC		0.567	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	26	1	0	2.80697e-09	0.000978	3.67447e-09	11	26				
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	C	A	rs541983846		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:3432521C>A	ENST00000520002.1	-	11	1848	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	CSMD1_ENST00000400186.3_Missense_Mutation_p.Q431H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q430H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	431	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Q430H(2)|p.Q159H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTTCATACTGAACCGGAT	0.517																																							uc011kwk.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(1291-1293)CAG>CAT		CUB and Sushi multiple domains 1 precursor							90.0	100.0	97.0					8																	3432521		2043	4209	6252	SO:0001583	missense	64478					integral to membrane		g.chr8:3432521C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1293G>T	8.37:g.3432521C>A	ENSP00000430733:p.Gln431His						p.Q431H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	10	1683	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	431			CUB 3.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1293G>T		.	.	.	.	.	.	.	.	.	.	C	18.12	3.552457	0.65311	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.06	3.21	0.36854	.	.	.	.	.	T	0.41926	0.1180	L	0.43554	1.36	0.40630	D	0.981841	D	0.55385	0.971	D	0.64410	0.925	T	0.17653	-1.0362	9	0.34782	T	0.22	.	11.2432	0.48980	0.0:0.841:0.0:0.159	.	431	E5RIG2	.	H	431;431;293;430;430;430	ENSP00000383047:Q431H;ENSP00000430733:Q431H;ENSP00000441462:Q430H;ENSP00000446243:Q430H;ENSP00000441675:Q430H	ENSP00000320445:Q293H	Q	-	3	2	CSMD1	3419929	0.998000	0.40836	1.000000	0.80357	0.685000	0.39939	0.588000	0.23924	1.090000	0.41315	0.655000	0.94253	CAG		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		18	61	1	0	3.32936e-07	0.006122	4.12173e-07	18	61				
RP1L1	94137	broad.mit.edu	37	8	10468146	10468146	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:10468146C>A	ENST00000382483.3	-	4	3685	c.3462G>T	c.(3460-3462)tcG>tcT	p.S1154S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1154					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.S1154S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGTCCTTCGAGATGCTGA	0.587																																							uc003wtc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3460-3462)TCG>TCT		retinitis pigmentosa 1-like 1							49.0	56.0	54.0					8																	10468146		2089	4217	6306	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468146C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3462G>T	8.37:g.10468146C>A							p.S1154S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3691	-			1154					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.3462G>T	CCDS43708.1																																																																																				0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			22	76	1	0	9.57634e-11	0.00333	1.31149e-10	22	76				
SLC35G5	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:11188891C>T	ENST00000382435.4	+	1	495	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	92	EamA 1.					integral component of membrane (GO:0016021)		p.D92D(2)									TGCGTGGCGACCCCCTTCTGG	0.592																																							uc003wtp.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(274-276)GAC>GAT		acyl-malonyl condensing enzyme							185.0	193.0	190.0					8																	11188891		2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11188891C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.276C>T	8.37:g.11188891C>T							p.D92D	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	397	+			92			DUF6 1.		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.276C>T	CCDS5980.1																																																																																				0.592	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		84	363	0	0	0	0.00361	0	84	363				
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21976735C>G	ENST00000381418.4	-	15	4519	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	HR_ENST00000312841.8_Silent_p.L1013L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1013	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L1013L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGATGCTGACCAGGTCGGCCA	0.602																																							uc003xas.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(3037-3039)CTG>CTC		hairless protein isoform a							65.0	59.0	61.0					8																	21976735		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21976735C>G	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3039G>C	8.37:g.21976735C>G						HR_uc003xat.2_Silent_p.L1013L	p.L1013L	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	15	3704	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1013			JmjC.		Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.3039G>C	CCDS6022.1																																																																																				0.602	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			17	51	0	0	0	0.00499	0	17	51				
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	G	A	rs185501052	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21977932G>A	ENST00000381418.4	-	12	4179	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	HR_ENST00000312841.8_Missense_Mutation_p.A900V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	900					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A900V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGCTCAGCGCCTGCACCTG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15086	0.0		0.0	False		,,,				2504	0.0						uc003xas.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(2698-2700)GCG>GTG		hairless protein isoform a							68.0	73.0	71.0					8																	21977932		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21977932G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2699C>T	8.37:g.21977932G>A	ENSP00000370826:p.Ala900Val					HR_uc003xat.2_Missense_Mutation_p.A900V	p.A900V	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	12	3364	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	900					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2699C>T	CCDS6022.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.841	0.156384	0.09236	.	.	ENSG00000168453	ENST00000381418;ENST00000312841;ENST00000517699	T;T;T	0.61274	0.12;0.12;0.12	4.44	0.503	0.16940	.	0.589389	0.16233	N	0.223505	T	0.39145	0.1067	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.21821	0.061;0.036	B;B	0.15052	0.012;0.005	T	0.17018	-1.0383	10	0.15952	T	0.53	-1.6875	3.75	0.08563	0.287:0.0:0.5439:0.1691	.	900;900	O43593-2;O43593	.;HAIR_HUMAN	V	900;900;123	ENSP00000370826:A900V;ENSP00000326765:A900V;ENSP00000430413:A123V	ENSP00000326765:A900V	A	-	2	0	HR	22033877	0.004000	0.15560	0.116000	0.21606	0.005000	0.04900	0.078000	0.14761	-0.021000	0.14009	-0.436000	0.05848	GCG		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			33	91	0	0	0	0.003271	0	33	91				
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22175745G>C	ENST00000454009.2	+	20	2869	c.2360G>C	c.(2359-2361)aGc>aCc	p.S787T	PIWIL2_ENST00000356766.6_Missense_Mutation_p.S787T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.S787T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	787	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.S787T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGTGGACAGCCTGAAGCTA	0.453																																							uc003xbn.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2359-2361)AGC>ACC		piwi-like 2							104.0	107.0	106.0					8																	22175745		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22175745G>C	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2360G>C	8.37:g.22175745G>C	ENSP00000406956:p.Ser787Thr					PIWIL2_uc011kzf.1_Missense_Mutation_p.S787T|PIWIL2_uc010ltv.2_Missense_Mutation_p.S787T	p.S787T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	20	2508	+			787			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2360G>C	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395800	0.62177	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.30714	1.52;1.52;1.52	5.95	5.95	0.96441	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.039273	0.85682	D	0.000000	T	0.24624	0.0597	N	0.21583	0.68	0.48452	D	0.999653	P;B	0.35527	0.507;0.27	B;B	0.34346	0.18;0.18	T	0.02226	-1.1192	10	0.28530	T	0.3	-6.5389	19.1739	0.93594	0.0:0.0:1.0:0.0	.	787;787	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	787	ENSP00000349208:S787T;ENSP00000428267:S787T;ENSP00000406956:S787T	ENSP00000349208:S787T	S	+	2	0	PIWIL2	22231690	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.942000	0.87708	2.827000	0.97445	0.650000	0.86243	AGC		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			26	105	0	0	0	0.008361	0	26	105				
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22863618G>T	ENST00000251822.6	+	4	979	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D155Y|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D170Y|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	148	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D148Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGCTACGCTGACCTGGAGGC	0.597																																							uc003xcq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(442-444)GAC>TAC		Rho-related BTB domain containing 2 isoform 3							176.0	167.0	170.0					8																	22863618		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22863618G>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.442G>T	8.37:g.22863618G>T	ENSP00000251822:p.Asp148Tyr					RHOBTB2_uc003xcp.2_Missense_Mutation_p.D170Y|RHOBTB2_uc011kzp.1_Missense_Mutation_p.D155Y	p.D148Y	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	4	979	+		Prostate(55;0.0513)|Breast(100;0.214)	148			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.442G>T	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745907	0.69418	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.11108	-1.0601	10	0.24483	T	0.36	.	17.682	0.88246	0.0:0.0:1.0:0.0	.	155;148;170	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	Y	170;170;155;148	ENSP00000427926:D170Y;ENSP00000430785:D170Y;ENSP00000429141:D155Y;ENSP00000251822:D148Y	ENSP00000251822:D148Y	D	+	1	0	RHOBTB2	22919563	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	9.856000	0.99531	2.505000	0.84491	0.563000	0.77884	GAC		0.597	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			101	372	1	0	2.14978e-47	0.00361	4.00887e-47	101	372				
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:28309761C>A	ENST00000380254.2	-	6	888	c.740G>T	c.(739-741)gGa>gTa	p.G247V	RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Splice_Site_p.G235V|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000517436.1_5'Flank|FBXO16_ENST00000346498.2_Splice_Site_p.G235V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	247								p.G247V(2)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGCTTCTTACCCTTGCTGGAC	0.403																																							uc003xgu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(739-741)GGA>GTA		F-box only protein 16							78.0	76.0	77.0					8																	28309761		2203	4300	6503	SO:0001630	splice_region_variant	157574							g.chr8:28309761C>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.740+1G>T	8.37:g.28309761C>A						ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.G234V|FBXO16_uc003xgw.2_Missense_Mutation_p.G234V	p.G247V	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	6	838	-		Ovarian(32;2.06e-05)	247					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.740G>T	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.585|6.585	0.476213|0.476213	0.12521|0.12521	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000518248|ENST00000380254;ENST00000346498;ENST00000518734	.|T;T;T	.|0.14144	.|2.54;2.53;2.55	5.42|5.42	4.46|4.46	0.54185|0.54185	.|.	.|1.517430	.|0.04235	.|U	.|0.335910	T|T	0.13072|0.13072	0.0317|0.0317	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.11235	.|0.003;0.003;0.004	.|B;B;B	.|0.08055	.|0.003;0.002;0.003	T|T	0.19778|0.19778	-1.0295|-1.0295	5|9	.|.	.|.	.|.	-21.7072|-21.7072	9.3134|9.3134	0.37919|0.37919	0.2363:0.6401:0.1235:0.0|0.2363:0.6401:0.1235:0.0	.|.	.|235;235;247	.|Q3T1B3;Q3T1B2;Q8IX29	.|.;.;FBX16_HUMAN	Y|V	92|247;235;235	.|ENSP00000369604:G247V;ENSP00000341416:G235V;ENSP00000429687:G235V	.|.	D|G	-|-	1|2	0|0	FBXO16|FBXO16	28365680|28365680	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.121000|0.121000	0.20230|0.20230	1.996000|1.996000	0.40776|0.40776	2.536000|2.536000	0.85505|0.85505	0.543000|0.543000	0.68304|0.68304	GAT|GGA		0.403	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	Missense_Mutation	26	58	1	0	2.44723e-14	0.004656	3.64625e-14	26	58				
SARAF	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:29924385A>G	ENST00000256255.6	-	4	1007	c.750T>C	c.(748-750)ttT>ttC	p.F250F	TMEM66_ENST00000545648.1_Silent_p.F78F|TMEM66_ENST00000536273.1_Silent_p.F78F	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		250					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.F250F(2)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTTGTCCTGTAAAAGCACTGC	0.398																																							uc003xhs.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(748-750)TTT>TTC		transmembrane protein 66 precursor							144.0	141.0	142.0					8																	29924385		2203	4300	6503	SO:0001819	synonymous_variant	51669					integral to membrane		g.chr8:29924385A>G																												ENST00000256255.6:c.750T>C	8.37:g.29924385A>G						TMEM66_uc003xht.2_Silent_p.F250F|TMEM66_uc003xhu.2_Silent_p.F214F|TMEM66_uc003xhv.2_Silent_p.F78F	p.F250F	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	4	934	-			250					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Silent	SNP	ENST00000256255.6	37	c.750T>C	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.725|9.725	1.160590|1.160590	0.21454|0.21454	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000521265|ENST00000518296	.|.	.|.	.|.	5.19|5.19	0.932|0.932	0.19466|0.19466	.|.	.|.	.|.	.|.	.|.	T|T	0.55353|0.55353	0.1915|0.1915	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44003|0.44003	-0.9356|-0.9356	4|4	.|.	.|.	.|.	-0.9005|-0.9005	8.3969|8.3969	0.32561|0.32561	0.3153:0.0:0.6847:0.0|0.3153:0.0:0.6847:0.0	.|.	.|.	.|.	.|.	S|H	250|120	.|.	.|.	L|Y	-|-	2|1	0|0	TMEM66|TMEM66	30043927|30043927	0.125000|0.125000	0.22332|0.22332	0.462000|0.462000	0.27118|0.27118	0.919000|0.919000	0.55068|0.55068	0.278000|0.278000	0.18753|0.18753	-0.137000|-0.137000	0.11455|0.11455	-0.484000|-0.484000	0.04775|0.04775	TTA|TAC		0.398	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			63	153	0	0	0	0.00361	0	63	153				
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:35606200A>C	ENST00000404895.2	+	12	2250	c.1922A>C	c.(1921-1923)cAg>cCg	p.Q641P	UNC5D_ENST00000416672.1_Missense_Mutation_p.Q646P|UNC5D_ENST00000287272.2_Missense_Mutation_p.Q572P|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q636P|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q574P|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q217P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	641	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.Q636P(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGACACAGCAGGGCAAATGG	0.438																																							uc003xjr.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1921-1923)CAG>CCG		unc-5 homolog D precursor							123.0	114.0	117.0					8																	35606200		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35606200A>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1922A>C	8.37:g.35606200A>C	ENSP00000385143:p.Gln641Pro					UNC5D_uc003xjs.1_Missense_Mutation_p.Q636P|UNC5D_uc003xju.1_Missense_Mutation_p.Q217P	p.Q641P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	2250	+			641			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1922A>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225279	0.79576	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.88	5.88	0.94601	ZU5 (2);	0.096084	0.64402	D	0.000001	T	0.45816	0.1361	L	0.34521	1.04	0.51767	D	0.999936	D;P;D	0.54964	0.969;0.898;0.969	P;P;P	0.53006	0.715;0.453;0.589	T	0.28650	-1.0037	10	0.34782	T	0.22	-17.732	16.2792	0.82664	1.0:0.0:0.0:0.0	.	217;636;641	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	P	641;574;572;646;636;217	ENSP00000385143:Q641P;ENSP00000392739:Q574P;ENSP00000287272:Q572P;ENSP00000412652:Q646P;ENSP00000394303:Q636P;ENSP00000397211:Q217P	ENSP00000287272:Q572P	Q	+	2	0	UNC5D	35725742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.784000	0.91818	2.243000	0.73865	0.533000	0.62120	CAG		0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			29	85	0	0	0	0.002096	0	29	85				
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36691143C>G	ENST00000399881.3	+	11	1215	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S393C(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTTCTGGATCTGCAATGAAG	0.398																																							uc010lvw.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1177-1179)TCT>TGT		potassium channel, subfamily U, member 1							156.0	151.0	153.0					8																	36691143		1893	4116	6009	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36691143C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1178C>G	8.37:g.36691143C>G	ENSP00000382770:p.Ser393Cys					KCNU1_uc003xjw.2_RNA	p.S393C	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	11	1265	+			393			RCK N-terminal.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.1178C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943709	0.53079	.	.	ENSG00000215262	ENST00000399881	T	0.71222	-0.55	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.201100	0.24115	U	0.041401	D	0.83617	0.5293	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	D	0.85285	0.1064	10	0.87932	D	0	-3.6308	17.9341	0.89007	0.0:1.0:0.0:0.0	.	393	A8MYU2	KCNU1_HUMAN	C	393	ENSP00000382770:S393C	ENSP00000382770:S393C	S	+	2	0	KCNU1	36810301	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	5.687000	0.68219	2.659000	0.90383	0.585000	0.79938	TCT		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		9	26	0	0	0	0.008291	0	9	26				
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36694374G>T	ENST00000399881.3	+	14	1466	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E477*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGCTTTGCTGAATTAAAACT	0.433																																							uc010lvw.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)	1						c.(1429-1431)GAA>TAA		potassium channel, subfamily U, member 1							154.0	153.0	153.0					8																	36694374		1871	4115	5986	SO:0001587	stop_gained	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36694374G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1429G>T	8.37:g.36694374G>T	ENSP00000382770:p.Glu477*					KCNU1_uc003xjw.2_RNA	p.E477*	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	14	1516	+			477			RCK N-terminal.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000399881.3	37	c.1429G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	37	6.402152	0.97537	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.34	5.34	0.76211	.	0.000000	0.38492	U	0.001672	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.447	18.9859	0.92769	0.0:0.0:1.0:0.0	.	.	.	.	X	477	.	ENSP00000382770:E477X	E	+	1	0	KCNU1	36813532	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	9.234000	0.95347	2.657000	0.90304	0.585000	0.79938	GAA		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		35	111	1	0	8.4185e-14	0.002445	1.24493e-13	35	111				
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41551533G>A	ENST00000347528.4	-	29	3498	c.3415C>T	c.(3415-3417)Cgg>Tgg	p.R1139W	ANK1_ENST00000265709.8_Missense_Mutation_p.R1180W|ANK1_ENST00000379758.2_Missense_Mutation_p.R1139W|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139W|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139W|ANK1_ENST00000396942.1_Missense_Mutation_p.R1139W	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1180W(2)|p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAACTTCCGGCGCCGGGGC	0.642																																							uc003xok.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(3415-3417)CGG>TGG		ankyrin 1 isoform 1							50.0	52.0	51.0					8																	41551533		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41551533G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3415C>T	8.37:g.41551533G>A	ENSP00000339620:p.Arg1139Trp					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R455W|ANK1_uc003xoi.2_Missense_Mutation_p.R1139W|ANK1_uc003xoj.2_Missense_Mutation_p.R1139W|ANK1_uc003xol.2_Missense_Mutation_p.R1139W|ANK1_uc003xom.2_Missense_Mutation_p.R1180W	p.R1139W	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		29	3499	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1139					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3415C>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.041304|4.041304	0.75732|0.75732	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.74842	.|-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.15|5.15	4.23|4.23	0.50019|0.50019	.|.	.|0.057430	.|0.64402	.|D	.|0.000002	D|D	0.86159|0.86159	0.5866|0.5866	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.993;0.998;0.999;1.0;0.993;1.0	.|P;P;D;D;P;D	.|0.79108	.|0.88;0.685;0.972;0.987;0.88;0.992	D|D	0.87949|0.87949	0.2722|0.2722	5|10	.|0.87932	.|D	.|0	.|.	12.7905|12.7905	0.57530|0.57530	0.0:0.0:0.7128:0.2872|0.0:0.0:0.7128:0.2872	.|.	.|1180;1139;1139;1139;1139;455	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|W	460|1139;1139;1139;1139;1139;1139;1180;1139	.|ENSP00000339620:R1139W;ENSP00000289734:R1139W;ENSP00000369082:R1139W;ENSP00000380149:R1139W;ENSP00000380147:R1139W;ENSP00000309131:R1139W;ENSP00000265709:R1180W	.|ENSP00000265709:R1180W	P|R	-|-	2|1	0|2	ANK1|ANK1	41670690|41670690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	4.970000|4.970000	0.63742|0.63742	2.557000|2.557000	0.86248|0.86248	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.642	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		17	66	0	0	0	0.006122	0	17	66				
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41553923C>A	ENST00000347528.4	-	26	3001	c.2918G>T	c.(2917-2919)aGc>aTc	p.S973I	ANK1_ENST00000265709.8_Missense_Mutation_p.S1014I|ANK1_ENST00000379758.2_Missense_Mutation_p.S973I|ANK1_ENST00000289734.7_Missense_Mutation_p.S973I|ANK1_ENST00000352337.4_Missense_Mutation_p.S973I|ANK1_ENST00000396945.1_Missense_Mutation_p.S973I|ANK1_ENST00000396942.1_Missense_Mutation_p.S973I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	973	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1014I(2)|p.S973I(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TATGATCCTGCTGGCCAGGCC	0.716																																							uc003xok.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2917-2919)AGC>ATC		ankyrin 1 isoform 1							34.0	37.0	36.0					8																	41553923		2202	4298	6500	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41553923C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2918G>T	8.37:g.41553923C>A	ENSP00000339620:p.Ser973Ile					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S289I|ANK1_uc003xoi.2_Missense_Mutation_p.S973I|ANK1_uc003xoj.2_Missense_Mutation_p.S973I|ANK1_uc003xol.2_Missense_Mutation_p.S973I|ANK1_uc003xom.2_Missense_Mutation_p.S1014I	p.S973I	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	3002	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	973			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2918G>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.110018|5.110018	0.94292|0.94292	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.53|5.53	5.53|5.53	0.82687|0.82687	.|ZU5 (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81456|0.81456	0.4826|0.4826	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.998;0.998;0.997;0.995;0.998;1.0	D|D	0.83501|0.83501	0.0075|0.0075	5|10	.|0.87932	.|D	.|0	.|.	19.4479|19.4479	0.94855|0.94855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1014;973;973;973;973;289	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	H|I	294|973;973;973;973;973;973;1014;973	.|ENSP00000339620:S973I;ENSP00000289734:S973I;ENSP00000369082:S973I;ENSP00000380149:S973I;ENSP00000380147:S973I;ENSP00000309131:S973I;ENSP00000265709:S1014I	.|ENSP00000265709:S1014I	Q|S	-|-	3|2	2|0	ANK1|ANK1	41673080|41673080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	6.006000|6.006000	0.70724|0.70724	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.716	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		31	61	1	0	1.22384e-17	0.002836	1.94047e-17	31	61				
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41581079C>A	ENST00000347528.4	-	8	867	c.784G>T	c.(784-786)Gga>Tga	p.G262*	ANK1_ENST00000265709.8_Nonsense_Mutation_p.G295*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.G262*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.G262*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.G262*|ANK1_ENST00000396942.1_Nonsense_Mutation_p.G262*	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	262	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G295*(2)|p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGCTCCCCGATCCAGC	0.652																																							uc003xok.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(784-786)GGA>TGA		ankyrin 1 isoform 1							119.0	88.0	99.0					8																	41581079		2203	4300	6503	SO:0001587	stop_gained	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41581079C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.784G>T	8.37:g.41581079C>A	ENSP00000339620:p.Gly262*					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Nonsense_Mutation_p.G262*|ANK1_uc003xoj.2_Nonsense_Mutation_p.G262*|ANK1_uc003xol.2_Nonsense_Mutation_p.G262*|ANK1_uc003xom.2_Nonsense_Mutation_p.G295*	p.G262*	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		8	868	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	262			ANK 7.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Nonsense_Mutation	SNP	ENST00000347528.4	37	c.784G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	41	8.816438	0.98964	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.734	0.69402	0.0:0.9298:0.0:0.0702	.	.	.	.	X	262;262;262;262;262;262;295;262	.	ENSP00000265709:G295X	G	-	1	0	ANK1	41700236	0.998000	0.40836	0.996000	0.52242	0.990000	0.78478	4.970000	0.63742	1.351000	0.45789	0.655000	0.94253	GGA		0.652	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		23	75	1	0	1.10513e-12	0.002299	1.58296e-12	23	75				
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:77766283G>C	ENST00000521891.2	+	10	7574	c.7126G>C	c.(7126-7128)Gct>Cct	p.A2376P	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331P|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.				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.A2360P(2)		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)			AGCTAAAAACGCTGCTGCCCC	0.512										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6991-6993)GCT>CCT		zinc finger homeodomain 4							107.0	106.0	106.0					8																	77766283		2002	4167	6169	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766283G>C		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.7126G>C	8.37:g.77766283G>C	ENSP00000430497:p.Ala2376Pro	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A2376P|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2331P	p.A2331P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7378	+			2331					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6991G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	6.219	0.408602	0.11812	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.72	4.8	-6.02	0.02192	.	1.168090	0.06525	N	0.740447	T	0.28632	0.0709	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26121	-1.0112	10	0.35671	T	0.21	.	0.1442	0.00086	0.303:0.2475:0.1944:0.2551	.	2331;2331;2376	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	P	2376;2360;2331;2331;2350	ENSP00000430497:A2376P;ENSP00000399605:A2331P;ENSP00000050961:A2331P;ENSP00000430848:A2350P	ENSP00000050961:A2331P	A	+	1	0	ZFHX4	77928838	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-1.347000	0.02632	-0.678000	0.05224	-0.247000	0.11927	GCT		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	117	0	0	0	0.00361	0	46	117				
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:82615028T>A	ENST00000220669.5	-	8	727	c.709A>T	c.(709-711)Aag>Tag	p.K237*	ZFAND1_ENST00000521895.1_Nonstop_Mutation_p.*127L|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.K230*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.K130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding (GO:0008270)	p.K237*(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAATCCTCCTTAGCAATCCAG	0.353																																							uc003ycj.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(709-711)AAG>TAG		zinc finger, AN1-type domain 1							125.0	136.0	132.0					8																	82615028		2203	4300	6503	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82615028T>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.709A>T	8.37:g.82615028T>A	ENSP00000220669:p.Lys237*					ZFAND1_uc010lzx.1_Nonsense_Mutation_p.K230*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.K130*	p.K237*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			8	723	-			237					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.709A>T	CCDS6232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.300448|4.300448	0.81136|0.81136	.|.	.|.	ENSG00000104231|ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521287|ENST00000521895	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.308587|.	0.39985|.	N|.	0.001219|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07175|.	T|.	0.84|.	.|.	6.8726|6.8726	0.24129|0.24129	0.0:0.0822:0.1536:0.7642|0.0:0.0822:0.1536:0.7642	.|.	.|.	.|.	.|.	X|L	230;237;130;130|127	.|.	ENSP00000220669:K237X|.	K|X	-|-	1|2	0|2	ZFAND1|ZFAND1	82777583|82777583	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.873000|0.873000	0.50193|0.50193	3.655000|3.655000	0.54460|0.54460	2.137000|2.137000	0.66172|0.66172	0.477000|0.477000	0.44152|0.44152	AAG|TAA		0.353	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		41	108	0	0	0	0.003214	0	41	108				
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:101075826C>G	ENST00000360863.6	-	8	1364	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RGS22_ENST00000523287.1_Missense_Mutation_p.E209D|RGS22_ENST00000523437.1_Missense_Mutation_p.E378D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E390D(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCAGCGCTCTCATTCTTTG	0.358																																							uc003yjb.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1168-1170)GAG>GAC		regulator of G-protein signaling 22							146.0	132.0	136.0					8																	101075826		1888	4110	5998	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075826C>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1170G>C	8.37:g.101075826C>G	ENSP00000354109:p.Glu390Asp					RGS22_uc003yja.1_Missense_Mutation_p.E209D|RGS22_uc003yjc.1_Missense_Mutation_p.E378D|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.E390D	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1365	-			390					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1170G>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	8.860	0.946686	0.18356	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32023	1.48;1.47;1.47	5.68	-1.86	0.07760	.	0.372084	0.27831	N	0.017668	T	0.19525	0.0469	L	0.39397	1.21	0.25843	N	0.984034	B;B;B	0.17667	0.014;0.014;0.023	B;B;B	0.19666	0.012;0.012;0.026	T	0.14090	-1.0485	10	0.32370	T	0.25	.	6.8762	0.24149	0.1265:0.1131:0.636:0.1245	.	378;390;209	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	D	390;378;209;378	ENSP00000354109:E390D;ENSP00000429382:E209D;ENSP00000428212:E378D	ENSP00000354109:E390D	E	-	3	2	RGS22	101145002	0.948000	0.32251	0.673000	0.29887	0.028000	0.11728	-0.080000	0.11339	-0.446000	0.07149	-1.067000	0.02272	GAG		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		6	81	0	0	0	0.001168	0	6	81				
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3283-3285)TGG>TAG		CUB and Sushi multiple domains 3 isoform 1							95.0	95.0	95.0					8																	113657364		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113657364C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3284G>A	8.37:g.113657364C>T	ENSP00000297405:p.Trp1095*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.W367*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W1055*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W991*	p.W1095*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3443	-			1095			Extracellular (Potential).|CUB 6.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.3284G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	45	11.416021	0.99558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.78	5.78	0.91487	.	0.080023	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	X	1055;1095;435;991;1095	.	ENSP00000297405:W1095X	W	-	2	0	CSMD3	113726540	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.749000	0.85096	2.894000	0.99253	0.591000	0.81541	TGG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	12	0	0	0	0.009096	0	3	12				
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116430678C>T	ENST00000220888.5	-	5	2823	c.2664G>A	c.(2662-2664)agG>agA	p.R888R	TRPS1_ENST00000520276.1_Silent_p.R892R|TRPS1_ENST00000519076.1_Silent_p.R642R|TRPS1_ENST00000395715.3_Silent_p.R901R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473									Langer-Giedion syndrome																														uc003ynz.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2662-2664)AGG>AGA		zinc finger transcription factor TRPS1							87.0	88.0	88.0					8																	116430678		1911	4120	6031	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430678C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2664G>A	8.37:g.116430678C>T						TRPS1_uc011lhy.1_Silent_p.R892R|TRPS1_uc003yny.2_Silent_p.R901R|TRPS1_uc010mcy.2_Silent_p.R888R	p.R888R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3123	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		888					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2664G>A		.	.	.	.	.	.	.	.	.	.	C	7.857	0.725294	0.15439	.	.	ENSG00000104447	ENST00000518018	.	.	.	5.81	3.78	0.43462	.	.	.	.	.	T	0.55593	0.1930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52660	-0.8546	4	.	.	.	.	6.4745	0.22028	0.0:0.6816:0.0:0.3184	.	.	.	.	T	13	.	.	A	-	1	0	TRPS1	116499854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.797000	0.26999	1.457000	0.47850	0.650000	0.86243	GCG		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		24	82	0	0	0	0.003954	0	24	82				
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	A	rs372146914		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116631413C>A	ENST00000220888.5	-	2	1032	c.873G>T	c.(871-873)ctG>ctT	p.L291L	TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000519076.1_Silent_p.L245L|TRPS1_ENST00000395715.3_Silent_p.L304L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L304L(2)|p.L291L(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGATGTCCTGCAGCACACCAG	0.418									Langer-Giedion syndrome																														uc003ynz.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(871-873)CTG>CTT		zinc finger transcription factor TRPS1		C		0,3822		0,0,1911	90.0	83.0	85.0		912	2.3	1.0	8		85	2,8284		0,2,4141	no	coding-synonymous	TRPS1	NM_014112.2		0,2,6052	AA,AC,CC		0.0241,0.0,0.0165		304/1295	116631413	2,12106	1911	4143	6054	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631413C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.873G>T	8.37:g.116631413C>A						TRPS1_uc011lhy.1_Silent_p.L295L|TRPS1_uc003yny.2_Silent_p.L304L|TRPS1_uc010mcy.2_Silent_p.L291L	p.L291L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1332	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		291					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.873G>T																																																																																					0.418	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		19	48	1	0	3.51602e-12	0.008871	4.95249e-12	19	48				
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363																																							uc003yox.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(160-162)AGA>ACA		collagen, type XIV, alpha 1 precursor							73.0	73.0	73.0					8																	121170441		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121170441G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.161G>C	8.37:g.121170441G>C	ENSP00000297848:p.Arg54Thr						p.R54T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		3	426	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		54			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.161G>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445988	0.43429	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.38	3.2	0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.192051	0.43110	D	0.000605	T	0.36386	0.0965	L	0.39245	1.2	0.31119	N	0.709104	B	0.31459	0.324	B	0.34038	0.174	T	0.25433	-1.0132	10	0.14656	T	0.56	.	4.2088	0.10502	0.4761:0.0:0.5239:0.0	.	54	Q05707	COEA1_HUMAN	T	54	ENSP00000443974:R54T;ENSP00000311809:R54T;ENSP00000297848:R54T;ENSP00000247781:R54T	ENSP00000247781:R54T	R	+	2	0	COL14A1	121239622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.985000	0.49362	1.113000	0.41760	0.650000	0.86243	AGA		0.363	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		14	47	0	0	0	0.00245	0	14	47				
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144332252C>T	ENST00000330701.4	+	2	608	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZFP41_ENST00000522452.1_Missense_Mutation_p.P80L|ZFP41_ENST00000520584.1_Missense_Mutation_p.P80L	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	80					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P80L(2)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTTCATTCCTTTTCAGAGG	0.512																																							uc003yxw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(238-240)CCT>CTT		zinc finger protein 41 homolog							83.0	86.0	85.0					8																	144332252		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332252C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.239C>T	8.37:g.144332252C>T	ENSP00000327427:p.Pro80Leu					ZFP41_uc003yxv.2_RNA	p.P80L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	597	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		80					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.239C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	9.587	1.125209	0.20959	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.07114	3.22;3.22;3.22	2.82	1.9	0.25705	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	0.999998	D	0.69078	0.997	P	0.61397	0.888	T	0.29912	-0.9996	9	0.54805	T	0.06	-13.4517	6.9077	0.24319	0.2739:0.7261:0.0:0.0	.	80	Q8N8Y5	ZFP41_HUMAN	L	80	ENSP00000430465:P80L;ENSP00000327427:P80L;ENSP00000428966:P80L	ENSP00000327427:P80L	P	+	2	0	ZFP41	144403627	0.000000	0.05858	0.071000	0.20095	0.980000	0.70556	0.238000	0.18004	0.714000	0.32081	0.467000	0.42956	CCT		0.512	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		48	113	0	0	0	0.00361	0	48	113				
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144808840G>T	ENST00000388913.3	-	5	2916	c.2791C>A	c.(2791-2793)Ccg>Acg	p.P931T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development (GO:0031214)			p.P931T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCGCTCCGGCACGGGGGGC	0.736																																							uc003yzk.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2791-2793)CCG>ACG		FAM83H							5.0	7.0	6.0					8																	144808840		1757	3774	5531	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808840G>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2791C>A	8.37:g.144808840G>T	ENSP00000373565:p.Pro931Thr					FAM83H_uc010mfk.1_RNA	p.P931T	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2860	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		931					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2791C>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	5.206	0.223520	0.09863	.	.	ENSG00000180921	ENST00000388913	T	0.18174	2.23	4.95	4.06	0.47325	.	47.265900	0.00166	N	0.000000	T	0.15392	0.0371	L	0.32530	0.975	0.09310	N	1	B	0.26363	0.147	B	0.21546	0.035	T	0.15378	-1.0439	10	0.44086	T	0.13	.	5.1285	0.14897	0.167:0.0:0.6591:0.1739	.	931	Q6ZRV2	FA83H_HUMAN	T	931	ENSP00000373565:P931T	ENSP00000373565:P931T	P	-	1	0	FAM83H	144880828	0.862000	0.29867	0.778000	0.31720	0.115000	0.19883	1.875000	0.39578	2.328000	0.79073	0.500000	0.49745	CCG		0.736	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		7	6	1	0	8.12818e-05	0.001984	9.16352e-05	7	6				
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144998070C>A	ENST00000322810.4	-	31	6607	c.6438G>T	c.(6436-6438)gaG>gaT	p.E2146D	PLEC_ENST00000398774.2_Missense_Mutation_p.E1977D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2009D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1987D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2032D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1995D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2036D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2013D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2009D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756																																							uc003zaf.1		NA																	6	Substitution - Missense(6)		lung(6)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6436-6438)GAG>GAT		plectin isoform 1							6.0	8.0	7.0					8																	144998070		1862	3863	5725	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998070C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6438G>T	8.37:g.144998070C>A	ENSP00000323856:p.Glu2146Asp					PLEC_uc003zab.1_Missense_Mutation_p.E2009D|PLEC_uc003zac.1_Missense_Mutation_p.E2013D|PLEC_uc003zad.2_Missense_Mutation_p.E2009D|PLEC_uc003zae.1_Missense_Mutation_p.E1977D|PLEC_uc003zag.1_Missense_Mutation_p.E1987D|PLEC_uc003zah.2_Missense_Mutation_p.E1995D|PLEC_uc003zaj.2_Missense_Mutation_p.E2036D	p.E2146D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6608	-			2146			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6438G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533859	0.13188	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.25;-1.25;-1.3;-1.29;-1.22;-1.24;-1.26;-1.21;-1.26	3.79	1.92	0.25849	.	0.000000	0.64402	U	0.000009	T	0.62319	0.2418	N	0.22421	0.69	0.36734	D	0.881862	B;B;B;B;B;B;B;B	0.15473	0.012;0.012;0.012;0.013;0.012;0.012;0.012;0.012	B;B;B;B;B;B;B;B	0.22601	0.018;0.04;0.04;0.018;0.04;0.04;0.04;0.04	T	0.49485	-0.8935	10	0.21540	T	0.41	.	3.9244	0.09257	0.3301:0.483:0.0:0.1869	.	2036;1995;1987;2146;1977;2009;2013;2009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2009;2013;2009;1977;2146;1987;1995;2036;2032	ENSP00000344848:E2009D;ENSP00000350277:E2013D;ENSP00000346602:E2009D;ENSP00000381756:E1977D;ENSP00000323856:E2146D;ENSP00000347044:E1987D;ENSP00000348702:E1995D;ENSP00000388180:E2036D;ENSP00000434583:E2032D	ENSP00000323856:E2146D	E	-	3	2	PLEC	145070058	0.073000	0.21202	0.997000	0.53966	0.023000	0.10783	-0.776000	0.04674	0.363000	0.24346	0.448000	0.29417	GAG		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	10	1	0	0.00307968	0.00308	0.0033265	3	10				
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:145160669G>T	ENST00000322428.5	+	2	487	c.83G>T	c.(82-84)aGg>aTg	p.R28M	SHARPIN_ENST00000398712.2_5'Flank|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Splice_Site_p.R28M|MAF1_ENST00000534585.1_Splice_Site_p.R28M	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	28					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)	p.R28M(2)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCATTGGCAGGTGAGGCAGG	0.562																																							uc003zbc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(82-84)AGG>ATG		MAF1 protein							66.0	64.0	65.0					8																	145160669		2203	4300	6503	SO:0001630	splice_region_variant	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145160669G>T		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.83+1G>T	8.37:g.145160669G>T						SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	p.R28M	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	584	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		28					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.83G>T	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382304	0.61845	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	T;T;T	0.51325	0.71;0.75;0.71	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80683	-0.1273	10	0.66056	D	0.02	-32.7849	13.1416	0.59438	0.0:0.0:1.0:0.0	.	28	Q9H063	MAF1_HUMAN	M	28	ENSP00000318604:R28M;ENSP00000433979:R28M;ENSP00000436720:R28M	ENSP00000318604:R28M	R	+	2	0	MAF1	145232657	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	4.554000	0.60760	2.167000	0.68274	0.462000	0.41574	AGG		0.562	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272	Missense_Mutation	21	74	1	0	3.01185e-09	0.003954	3.93398e-09	21	74				
RIC1	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:5762559A>G	ENST00000414202.2	+	18	2202	c.2011A>G	c.(2011-2013)Att>Gtt	p.I671V	KIAA1432_ENST00000449720.2_Missense_Mutation_p.I555V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.I592V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.I592V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.I671V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.I592V(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAGAGCATTATGTTAAA	0.458																																							uc003zji.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1774-1776)ATT>GTT		connexin 43-interacting protein 150 isoform a							111.0	99.0	103.0					9																	5762559		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5762559A>G																												ENST00000414202.2:c.2011A>G	9.37:g.5762559A>G	ENSP00000416696:p.Ile671Val					KIAA1432_uc003zjh.2_Missense_Mutation_p.I592V|KIAA1432_uc003zjl.3_Missense_Mutation_p.I555V|KIAA1432_uc003zjj.1_Missense_Mutation_p.I134V	p.I592V	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	17	1867	+		Acute lymphoblastic leukemia(23;0.154)	671						Missense_Mutation	SNP	ENST00000414202.2	37	c.1774A>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.943402|2.943402	0.53079|0.53079	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56587|0.56587	0.1995|0.1995	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.28850	.|0.144;0.144;0.177;0.225	.|B;B;B;B	.|0.27262	.|0.035;0.035;0.049;0.078	T|T	0.53927|0.53927	-0.8369|-0.8369	5|9	.|0.12103	.|T	.|0.63	-19.9562|-19.9562	16.3634|16.3634	0.83296|0.83296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|555;592;671;671	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	R|V	562|671;671;592;592;555	.|.	.|ENSP00000251879:I671V	H|I	+|+	2|1	0|0	KIAA1432|KIAA1432	5752559|5752559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.927000|8.927000	0.92846|0.92846	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	CAT|ATT		0.458	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			36	103	0	0	0	0.004878	0	36	103				
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:14812842A>T	ENST00000380880.3	-	16	3644	c.2861T>A	c.(2860-2862)gTt>gAt	p.V954D	FREM1_ENST00000380881.4_Missense_Mutation_p.V955D|FREM1_ENST00000422223.2_Missense_Mutation_p.V954D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	954					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V955D(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCTGAGATAACATCTCTCTG	0.507																																							uc003zlm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2860-2862)GTT>GAT		FRAS1 related extracellular matrix 1 precursor							190.0	187.0	188.0					9																	14812842		2080	4239	6319	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14812842A>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2861T>A	9.37:g.14812842A>T	ENSP00000370262:p.Val954Asp					FREM1_uc010mic.2_RNA	p.V954D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	16	3451	-			954			CSPG 6.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2861T>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404817	0.83230	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.57595	0.39;0.39;0.39	5.78	5.78	0.91487	.	0.454150	0.26300	N	0.025162	T	0.72700	0.3493	M	0.78801	2.425	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	T	0.76602	-0.2899	10	0.87932	D	0	-10.6194	16.1138	0.81283	1.0:0.0:0.0:0.0	.	954	Q5H8C1	FREM1_HUMAN	D	955;954;954	ENSP00000370263:V955D;ENSP00000412940:V954D;ENSP00000370262:V954D	ENSP00000370257:V957D	V	-	2	0	FREM1	14802842	1.000000	0.71417	0.919000	0.36401	0.796000	0.44982	8.730000	0.91510	2.220000	0.72140	0.533000	0.62120	GTT		0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		78	206	0	0	0	0.00361	0	78	206				
CCDC171	203238	broad.mit.edu	37	9	15591483	15591483	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:15591483A>T	ENST00000380701.3	+	5	800	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	CCDC171_ENST00000297641.3_Missense_Mutation_p.M158L|CCDC171_ENST00000535968.1_Missense_Mutation_p.M158L	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	158	Glu-rich.							p.M158L(1)									AAGAGACAATATGATCCAAAA	0.318																																							uc003zmd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)ATG>TTG		hypothetical protein LOC203238							70.0	72.0	72.0					9																	15591483		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15591483A>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.472A>T	9.37:g.15591483A>T	ENSP00000370077:p.Met158Leu					C9orf93_uc010mih.1_Missense_Mutation_p.M158L|C9orf93_uc003zme.2_Missense_Mutation_p.M65L|C9orf93_uc011lmu.1_Missense_Mutation_p.M158L|C9orf93_uc003zmc.2_Missense_Mutation_p.M158L	p.M158L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	5	787	+			158			Potential.|Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.472A>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	7.282	0.609248	0.14066	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.38240	1.15;1.15;1.15	5.58	1.74	0.24563	.	0.378699	0.29369	N	0.012345	T	0.13372	0.0324	N	0.04508	-0.205	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.20840	-1.0263	10	0.19590	T	0.45	-1.7432	5.0648	0.14576	0.681:0.154:0.1649:0.0	.	158;158;158;158	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	L	158	ENSP00000438838:M158L;ENSP00000297641:M158L;ENSP00000370077:M158L	ENSP00000297641:M158L	M	+	1	0	C9orf93	15581483	0.903000	0.30736	0.994000	0.49952	0.934000	0.57294	1.589000	0.36644	0.412000	0.25729	0.449000	0.29647	ATG		0.318	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		3	36	0	0	0	0.004672	0	3	36				
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:32487951G>A	ENST00000379883.2	-	8	1361	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	DDX58_ENST00000379882.1_Silent_p.L357L|DDX58_ENST00000379868.1_Silent_p.L199L|DDX58_ENST00000542096.1_Silent_p.L331L|DDX58_ENST00000545044.1_Silent_p.L199L	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	402	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L402L(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACCTGGGGCAGTGGGCCTGAA	0.403																																							uc003zra.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)|pancreas(1)	4						c.(1204-1206)CTG>TTG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							120.0	129.0	126.0					9																	32487951		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32487951G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1204C>T	9.37:g.32487951G>A						DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.L357L|DDX58_uc011lnr.1_Silent_p.L199L|DDX58_uc010mji.2_Silent_p.L331L	p.L402L	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	8	1362	-			402			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.1204C>T	CCDS6526.1																																																																																				0.403	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		20	62	0	0	0	0.010504	0	20	62				
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:35650214G>T	ENST00000259608.3	-	4	410	c.324C>A	c.(322-324)gaC>gaA	p.D108E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	108					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)	p.D108E(2)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCTGCTGGTCTGGCTCTG	0.617																																							uc003zxe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(322-324)GAC>GAA		SHP2-interacting transmembrane adaptor protein							69.0	74.0	73.0					9																	35650214		2203	4300	6503	SO:0001583	missense	27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650214G>T		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.324C>A	9.37:g.35650214G>T	ENSP00000259608:p.Asp108Glu					SIT1_uc003zxf.1_RNA	p.D108E	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	421	-			108			Cytoplasmic (Potential).		B2RBP9	Missense_Mutation	SNP	ENST00000259608.3	37	c.324C>A	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572249	0.03882	.	.	ENSG00000137078	ENST00000259608	T	0.39406	1.08	5.03	-0.526	0.11913	.	0.980175	0.08314	N	0.964852	T	0.22627	0.0546	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21280	-1.0250	10	0.25751	T	0.34	-1.2507	2.8184	0.05464	0.088:0.2917:0.3314:0.2889	.	108	Q9Y3P8	SIT1_HUMAN	E	108	ENSP00000259608:D108E	ENSP00000259608:D108E	D	-	3	2	SIT1	35640214	0.002000	0.14202	0.255000	0.24374	0.190000	0.23558	-0.816000	0.04477	-0.310000	0.08766	0.462000	0.41574	GAC		0.617	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		21	80	1	0	2.21704e-12	0.00278	3.13771e-12	21	80				
TLN1	7094	broad.mit.edu	37	9	35718871	35718871	+	Missense_Mutation	SNP	C	C	A	rs371169599		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:35718871C>A	ENST00000314888.9	-	17	2286	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	TLN1_ENST00000540444.1_Missense_Mutation_p.G645C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	645					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.G645C(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGCCTGGCCCACGTTCCCA	0.572																																							uc003zxt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1933-1935)GGC>TGC		talin 1							42.0	35.0	37.0					9																	35718871		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35718871C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1933G>T	9.37:g.35718871C>A	ENSP00000316029:p.Gly645Cys						p.G645C	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		17	2287	-	all_epithelial(49;0.167)		645					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1933G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762354	0.89932	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71817	-0.58;-0.6	6.17	6.17	0.99709	Talin, central (3);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86184	0.1608	10	0.87932	D	0	-21.6571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	645	Q9Y490	TLN1_HUMAN	C	645	ENSP00000316029:G645C;ENSP00000442981:G645C	ENSP00000316029:G645C	G	-	1	0	TLN1	35708871	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	25	1	0	1.58986e-06	0.008291	1.92799e-06	10	25				
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395969	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:38395968_38395969GA>TG	ENST00000377698.3	+	2	376_377	c.223_224GA>TG	c.(223-225)GAt>TGt	p.D75C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TGACCGGGCTGATGTGGATCGG	0.644																																							uc004aay.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(223-225)GAT>TGT		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)																																			SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395968_38395969GA>TG	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	Exception_encountered	9.37:g.38395968_38395969delinsTG	ENSP00000366927:p.Asp75Cys						p.D75C	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	335_336	+			75					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	DNP	ENST00000377698.3	37	c.223_224GA>TG	CCDS6615.1																																																																																				0.644	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			41	123	0	0	0	0.004672	0	41	123				
SPATA31A6	389730	broad.mit.edu	37	9	43629263	43629263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:43629263C>G	ENST00000332857.6	-	2	275	c.247G>C	c.(247-249)Gct>Cct	p.A83P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	83					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.A83P(2)									AGAGCCTTACCTCTCAGACTG	0.547																																							uc011lrb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(247-249)GCT>CCT		hypothetical protein LOC389730																																				SO:0001630	splice_region_variant	389730					integral to membrane		g.chr9:43629263C>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.247+1G>C	9.37:g.43629263C>G							p.A83P	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			2	276	-			83						Missense_Mutation	SNP	ENST00000332857.6	37	c.247G>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785714	0.49997	.	.	ENSG00000185775	ENST00000332857	T	0.04502	3.61	2.08	2.08	0.27032	.	.	.	.	.	T	0.12689	0.0308	L	0.55213	1.73	0.19300	N	0.999979	D	0.67145	0.996	D	0.64410	0.925	T	0.09930	-1.0652	8	.	.	.	.	7.7632	0.28965	0.0:1.0:0.0:0.0	.	83	Q5VVP1	F75A6_HUMAN	P	83	ENSP00000329825:A83P	.	A	-	1	0	FAM75A6	43569259	0.266000	0.24112	0.342000	0.25602	0.053000	0.15095	0.786000	0.26844	1.472000	0.48140	0.393000	0.25936	GCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	Missense_Mutation	65	72	0	0	0	0.00361	0	65	72				
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:72082745C>A	ENST00000265381.4	-	5	1698	c.1476G>T	c.(1474-1476)agG>agT	p.R492S	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTTGATCCTGCTTACGG	0.527																																							uc004ahh.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1474-1476)AGG>AGT		amyloid beta A4 precursor protein-binding,							163.0	137.0	146.0					9																	72082745		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082745C>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1476G>T	9.37:g.72082745C>A	ENSP00000265381:p.Arg492Ser						p.R492S	NM_001163	NP_001154	Q02410	APBA1_HUMAN			5	1752	-			492			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1476G>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044697	0.75732	.	.	ENSG00000107282	ENST00000265381	T	0.59224	0.28	5.87	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.094572	0.64402	D	0.000002	T	0.69566	0.3125	M	0.73430	2.235	0.80722	D	1	D	0.56968	0.978	P	0.58077	0.832	T	0.72747	-0.4200	10	0.87932	D	0	-17.4655	11.2891	0.49239	0.0:0.8514:0.0:0.1486	.	492	Q02410	APBA1_HUMAN	S	492	ENSP00000265381:R492S	ENSP00000265381:R492S	R	-	3	2	APBA1	71272565	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.447000	0.21710	2.792000	0.96026	0.650000	0.86243	AGG		0.527	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		15	141	1	0	4.72057e-08	0.003954	6.00708e-08	15	141				
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:73399169C>A	ENST00000377111.2	-	7	1243	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	TRPM3_ENST00000377105.1_Missense_Mutation_p.A181S|TRPM3_ENST00000377110.3_Missense_Mutation_p.A334S|TRPM3_ENST00000360823.2_Missense_Mutation_p.A206S|TRPM3_ENST00000377101.1_Missense_Mutation_p.A181S|TRPM3_ENST00000408909.2_Missense_Mutation_p.A181S|TRPM3_ENST00000377106.1_Missense_Mutation_p.A206S|TRPM3_ENST00000396280.5_Missense_Mutation_p.A181S|TRPM3_ENST00000358082.3_Missense_Mutation_p.A206S|TRPM3_ENST00000361823.5_Missense_Mutation_p.A181S|TRPM3_ENST00000396285.1_Missense_Mutation_p.A181S|TRPM3_ENST00000423814.3_Missense_Mutation_p.A361S|TRPM3_ENST00000396283.1_Missense_Mutation_p.A206S|TRPM3_ENST00000396292.4_Missense_Mutation_p.A206S|TRPM3_ENST00000357533.2_Missense_Mutation_p.A336S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	359					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.A206S(2)|p.A334S(2)|p.A336S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTATGAGTGCCACCACAGGA	0.458																																							uc004aid.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1000-1002)GCA>TCA		transient receptor potential cation channel,							85.0	67.0	73.0					9																	73399169		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73399169C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1000G>T	9.37:g.73399169C>A	ENSP00000366315:p.Ala334Ser					TRPM3_uc004ahu.2_Missense_Mutation_p.A164S|TRPM3_uc004ahv.2_Missense_Mutation_p.A164S|TRPM3_uc004ahw.2_Missense_Mutation_p.A206S|TRPM3_uc004ahx.2_Missense_Mutation_p.A181S|TRPM3_uc004ahy.2_Missense_Mutation_p.A206S|TRPM3_uc004ahz.2_Missense_Mutation_p.A181S|TRPM3_uc004aia.2_Missense_Mutation_p.A181S|TRPM3_uc004aib.2_Missense_Mutation_p.A181S|TRPM3_uc004aic.2_Missense_Mutation_p.A334S|TRPM3_uc010mor.2_Missense_Mutation_p.A334S|TRPM3_uc004aie.2_Missense_Mutation_p.A181S|TRPM3_uc004aif.2_Missense_Mutation_p.A206S|TRPM3_uc004aig.2_Missense_Mutation_p.A181S	p.A334S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			7	1244	-			359			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1000G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.08|19.08	3.757665|3.757665	0.69648|0.69648	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.67698|.	4.08;4.08;0.53;0.52;4.08;4.08;4.08;4.08;0.53;0.52;0.56;1.47;-0.28;1.47|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70824|0.70824	0.3268|0.3268	L|L	0.46157|0.46157	1.445|1.445	0.52099|0.52099	D|D	0.999948|0.999948	P;P;D;B;P;B;B;P;B;B|.	0.54601|.	0.885;0.529;0.967;0.327;0.597;0.369;0.046;0.597;0.451;0.143|.	B;B;P;B;B;B;B;B;B;B|.	0.58454|.	0.416;0.373;0.839;0.085;0.4;0.097;0.06;0.4;0.316;0.097|.	T|T	0.63287|0.63287	-0.6671|-0.6671	10|5	0.52906|.	T|.	0.07|.	-27.0704|-27.0704	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359;181;334;334;334;336;206;181;334;181|.	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.|.	S|V	334;334;206;206;181;336;181;181;206;206;361;181;206;181|180	ENSP00000366315:A334S;ENSP00000366314:A334S;ENSP00000366310:A206S;ENSP00000354066:A206S;ENSP00000366309:A181S;ENSP00000350140:A336S;ENSP00000386127:A181S;ENSP00000379581:A181S;ENSP00000379587:A206S;ENSP00000350791:A206S;ENSP00000389542:A361S;ENSP00000366305:A181S;ENSP00000379579:A206S;ENSP00000355395:A181S|.	ENSP00000350140:A336S|.	A|G	-|-	1|2	0|0	TRPM3|TRPM3	72588989|72588989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	4.903000|4.903000	0.63272|0.63272	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		10	30	1	0	0.000978159	0.000978	0.00107416	10	30				
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:74300223C>A	ENST00000377044.4	-	24	4581	c.4042G>T	c.(4042-4044)Gtg>Ttg	p.V1348L	TMEM2_ENST00000377066.5_Missense_Mutation_p.V1285L|TMEM2_ENST00000396272.3_Missense_Mutation_p.V341L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1348					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1348L(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTCAAGCACCCCAAGGCCC	0.443																																							uc011lsa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4042-4044)GTG>TTG		transmembrane protein 2 isoform a							108.0	98.0	102.0					9																	74300223		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74300223C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4042G>T	9.37:g.74300223C>A	ENSP00000366243:p.Val1348Leu					TMEM2_uc011lrz.1_Missense_Mutation_p.V341L|TMEM2_uc010mos.2_Missense_Mutation_p.V1285L|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.V182L	p.V1348L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	24	4582	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1348					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.4042G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908399	0.17833	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.71698	-0.59;-0.53;2.65	5.53	4.64	0.57946	.	0.343178	0.27340	N	0.019803	T	0.44664	0.1304	N	0.01576	-0.805	0.27358	N	0.956048	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38243	-0.9670	10	0.38643	T	0.18	.	14.3518	0.66708	0.0:0.2194:0.7806:0.0	.	1348;1285	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1348;1285;341	ENSP00000366243:V1348L;ENSP00000366266:V1285L;ENSP00000379569:V341L	ENSP00000366243:V1348L	V	-	1	0	TMEM2	73490043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.880000	0.56145	1.347000	0.45714	0.555000	0.69702	GTG		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		38	84	1	0	6.70999e-13	0.004289	9.65782e-13	38	84				
PCSK5	5125	broad.mit.edu	37	9	78937970	78937970	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:78937970T>G	ENST00000545128.1	+	31	4562	c.4024T>G	c.(4024-4026)Tgc>Ggc	p.C1342G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1342	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.C1342G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCCCAGAGTGCACGCCTGA	0.547																																							uc004akc.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(280-282)TGC>GGC		Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.							20.0	17.0	18.0					9																	78937970		876	1991	2867	SO:0001583	missense	0							g.chr9:78937970T>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4024T>G	9.37:g.78937970T>G	ENSP00000446280:p.Cys1342Gly						p.C94G							4	500	+								F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.280T>G	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478430	0.63849	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.73575	-0.76;0.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	H	0.99498	4.595	0.54753	D	0.999989	.	.	.	.	.	.	D	0.93813	0.7112	8	0.87932	D	0	-20.1243	10.5985	0.45352	0.1441:0.0:0.0:0.8558	.	.	.	.	G	1342;1072;1042	ENSP00000446280:C1342G;ENSP00000411654:C1042G	ENSP00000365945:C1072G	C	+	1	0	PCSK5	78127790	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.444000	0.60001	2.154000	0.67381	0.528000	0.53228	TGC		0.547	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	14	0	0	0	0.009096	0	4	14				
TSTD2	158427	broad.mit.edu	37	9	100364923	100364923	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:100364923T>C	ENST00000341170.4	-	10	1761	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	460								p.Q460R(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CCCCTTGTCTTGACATGTGAC	0.537																																							uc004axn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1378-1380)CAA>CGA		thiosulfate sulfurtransferase (rhodanese)-like							243.0	206.0	219.0					9																	100364923		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100364923T>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1379A>G	9.37:g.100364923T>C	ENSP00000342499:p.Gln460Arg					TSTD2_uc004axo.2_Missense_Mutation_p.Q234R	p.Q460R	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN			10	1867	-			460					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1379A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776000	0.49786	.	.	ENSG00000136925	ENST00000375173;ENST00000341170	T;T	0.36340	1.26;1.26	5.5	5.5	0.81552	.	0.056918	0.64402	D	0.000001	T	0.31544	0.0800	L	0.53671	1.685	0.80722	D	1	P	0.42692	0.787	B	0.36134	0.218	T	0.10800	-1.0614	10	0.14252	T	0.57	-12.8991	15.5809	0.76439	0.0:0.0:0.0:1.0	.	460	Q5T7W7	TSTD2_HUMAN	R	56;460	ENSP00000364316:Q56R;ENSP00000342499:Q460R	ENSP00000342499:Q460R	Q	-	2	0	TSTD2	99404744	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.534000	0.60622	2.225000	0.72522	0.460000	0.39030	CAA		0.537	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		6	310	0	0	0	0.004482	0	6	310				
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:104319803G>T	ENST00000389120.3	+	16	2397	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	769					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K769N(2)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCGTATCAAGTCCAATCAGA	0.453																																							uc004bbn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2305-2307)AAG>AAT		ring finger protein 20							119.0	108.0	112.0					9																	104319803		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104319803G>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2307G>T	9.37:g.104319803G>T	ENSP00000373772:p.Lys769Asn						p.K769N	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	16	2397	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	769			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2307G>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605829	0.66445	.	.	ENSG00000155827	ENST00000389120	T	0.55930	0.49	5.67	0.763	0.18459	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.54323	1.7	0.54753	D	0.999987	D	0.71674	0.998	D	0.70487	0.969	T	0.60434	-0.7264	10	0.72032	D	0.01	-26.004	9.3988	0.38420	0.5108:0.0:0.4892:0.0	.	769	Q5VTR2	BRE1A_HUMAN	N	769	ENSP00000373772:K769N	ENSP00000373772:K769N	K	+	3	2	RNF20	103359624	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.820000	0.27323	0.081000	0.16988	0.655000	0.94253	AAG		0.453	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		12	42	1	0	5.16669e-11	0.000978	7.10869e-11	12	42				
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	C	T	rs146391633		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:107288801C>T	ENST00000277216.3	-	1	689	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230S(2)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCTGTGGCCGAGTTCGTTC	0.413																																							uc011lvn.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(688-690)TCG>TCA		olfactory receptor, family 13, subfamily C,		T		0,4406		0,0,2203	125.0	124.0	125.0		690	1.3	0.2	9	dbSNP_134	125	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	OR13C4	NM_001001919.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		230/319	107288801	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288801C>T		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.690G>A	9.37:g.107288801C>T							p.S230S	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	690	-			230			Cytoplasmic (Potential).		Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.690G>A	CCDS35088.1																																																																																				0.413	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			33	101	0	0	0	0.00623	0	33	101				
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:114820914C>T	ENST00000374270.3	-	14	2075	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	SUSD1_ENST00000374264.2_Missense_Mutation_p.D635N|SUSD1_ENST00000374263.3_Missense_Mutation_p.D635N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	635						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D635N(2)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTCAGAATCACAAGAAAAT	0.488																																							uc004bfu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1903-1905)GAT>AAT		sushi domain containing 1 precursor							97.0	101.0	100.0					9																	114820914		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114820914C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1903G>A	9.37:g.114820914C>T	ENSP00000363388:p.Asp635Asn					SUSD1_uc010mui.2_Missense_Mutation_p.D635N|SUSD1_uc010muj.2_Missense_Mutation_p.D635N	p.D635N	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			14	1944	-			635			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1903G>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126067	0.56721	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.29142	1.58;1.58;1.58	5.44	5.44	0.79542	.	0.000000	0.49916	D	0.000135	T	0.53465	0.1798	M	0.79805	2.47	0.34891	D	0.745522	D;D;D	0.63046	0.992;0.989;0.986	P;P;P	0.59357	0.856;0.787;0.722	T	0.67133	-0.5747	10	0.49607	T	0.09	-26.2875	14.9247	0.70868	0.1437:0.8563:0.0:0.0	.	635;635;635	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	N	635	ENSP00000363388:D635N;ENSP00000363381:D635N;ENSP00000363382:D635N	ENSP00000363381:D635N	D	-	1	0	SUSD1	113860735	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	2.312000	0.43726	2.553000	0.86117	0.561000	0.74099	GAT		0.488	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		19	121	0	0	0	0.007413	0	19	121				
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:125145835G>T	ENST00000362012.2	+	8	815	c.810G>T	c.(808-810)gtG>gtT	p.V270V	PTGS1_ENST00000223423.4_Silent_p.V270V|PTGS1_ENST00000540753.1_Silent_p.V245V|PTGS1_ENST00000373698.5_Silent_p.V161V	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	270					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.V270V(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGCGCCTGTGTTGATGCACT	0.642																																							uc004bmg.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(808-810)GTG>GTT		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						60.0	57.0	58.0					9																	125145835		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125145835G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.810G>T	9.37:g.125145835G>T						PTGS1_uc011lys.1_Silent_p.V245V|PTGS1_uc010mwb.1_Silent_p.V161V|PTGS1_uc004bmf.1_Silent_p.V270V|PTGS1_uc004bmh.1_Silent_p.V161V|PTGS1_uc011lyt.1_Silent_p.V161V	p.V270V	NM_000962	NP_000953	P23219	PGH1_HUMAN			8	945	+			270					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.810G>T	CCDS6842.1																																																																																				0.642	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			10	53	1	0	1.61879e-10	0.001368	2.19667e-10	10	53				
AK8	158067	broad.mit.edu	37	9	135602879	135602879	+	Silent	SNP	C	C	T	rs368966104		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:135602879C>T	ENST00000298545.3	-	12	1685	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	388	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.R388R(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCAGAGTCAGCCGCTCCATGA	0.448																																							uc004cbu.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1162-1164)CGG>CGA		putative adenylate kinase-like protein C9orf98							101.0	97.0	98.0					9																	135602879		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135602879C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1164G>A	9.37:g.135602879C>T						C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.R184R	p.R388R	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	12	1720	-			388			Adenylate kinase.		A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.1164G>A	CCDS6954.1																																																																																				0.448	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		4	161	0	0	0	0.009096	0	4	161				
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:138713801C>A	ENST00000389532.4	-	11	2770	c.2706G>T	c.(2704-2706)ctG>ctT	p.L902L	CAMSAP1_ENST00000409386.3_Silent_p.L913L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.L624L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	902					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.L902L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTTGCCGACAGCGCCTCCA	0.637																																							uc004cgr.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2704-2706)CTG>CTT		calmodulin regulated spectrin-associated protein							56.0	63.0	61.0					9																	138713801		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713801C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2706G>T	9.37:g.138713801C>A						CAMSAP1_uc004cgq.3_Silent_p.L792L|CAMSAP1_uc010nbg.2_Silent_p.L624L	p.L902L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2706	-			902					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.2706G>T	CCDS35176.2																																																																																				0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		49	119	1	0	2.47907e-22	0.00361	4.12946e-22	49	119				
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:88008704C>G	ENST00000276127.4	+	3	548	c.289C>G	c.(289-291)Ccc>Gcc	p.P97A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P97A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97							metal ion binding (GO:0046872)	p.P97A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACCCCCATTCCCAGAAAATT	0.413																																							uc004efd.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(289-291)CCC>GCC		CPX chromosome region, candidate 1							37.0	33.0	34.0					X																	88008704		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008704C>G	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.289C>G	X.37:g.88008704C>G	ENSP00000276127:p.Pro97Ala					CPXCR1_uc004efc.3_Missense_Mutation_p.P97A	p.P97A	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	548	+			97					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.289C>G	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165319	0.21538	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.52754	0.65;0.65	3.33	2.47	0.30058	.	0.000000	0.37577	N	0.002027	T	0.46483	0.1395	L	0.29908	0.895	0.24382	N	0.994787	D	0.71674	0.998	D	0.63381	0.914	T	0.19484	-1.0304	9	.	.	.	-8.12	5.7488	0.18134	0.0:0.8489:0.0:0.1511	.	97	Q8N123	CPXCR_HUMAN	A	97	ENSP00000276127:P97A;ENSP00000362203:P97A	.	P	+	1	0	CPXCR1	87895360	0.923000	0.31300	0.683000	0.30040	0.099000	0.18886	0.160000	0.16462	0.801000	0.34066	0.594000	0.82650	CCC		0.413	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		8	13	0	0	0	0.00308	0	8	13				
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:89177108G>T	ENST00000561129.2	+	1	154	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TGIF2LX_ENST00000283891.5_Silent_p.P8P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P8P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGACGGCCCGGCTGAGACCC	0.527																																							uc004efe.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(22-24)CCG>CCT		TGFB-induced factor homeobox 2-like, X-linked							42.0	50.0	48.0					X																	89177108		2201	4300	6501	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177108G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.24G>T	X.37:g.89177108G>T							p.P8P	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	73	+			8					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.24G>T	CCDS14459.1																																																																																				0.527	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		32	59	1	0	9.80977e-26	0.004289	1.68127e-25	32	59				
RGAG1	57529	broad.mit.edu	37	X	109694400	109694400	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:109694400A>T	ENST00000465301.2	+	3	801	c.555A>T	c.(553-555)tcA>tcT	p.S185S	RGAG1_ENST00000540313.1_Silent_p.S185S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	185										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGCACTTCATCCTCTGAGG	0.473																																							uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(553-555)TCA>TCT		retrotransposon gag domain containing 1							135.0	114.0	121.0					X																	109694400		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694400A>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.555A>T	X.37:g.109694400A>T						RGAG1_uc011msr.1_Silent_p.S185S	p.S185S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	801	+			185					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.555A>T	CCDS14552.1																																																																																				0.473	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		4	213	0	0	0	0.009096	0	4	213				
TENM1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:124097430T>G	ENST00000371130.3	-	1	236	c.173A>C	c.(172-174)aAt>aCt	p.N58T	TENM1_ENST00000422452.2_Missense_Mutation_p.N58T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	58	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N58T(2)									ACTCTGGCTATTGTAATTCAT	0.368																																							uc004euj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(172-174)AAT>ACT		odz, odd Oz/ten-m homolog 1 isoform 3							256.0	238.0	244.0					X																	124097430		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097430T>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.173A>C	X.37:g.124097430T>G	ENSP00000360171:p.Asn58Thr					ODZ1_uc011muj.1_Missense_Mutation_p.N58T|ODZ1_uc010nqy.2_Missense_Mutation_p.N58T	p.N58T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	237	-			58			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.173A>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.912029	0.52439	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28255	1.62;1.62	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.217113	0.39210	N	0.001432	T	0.24661	0.0598	N	0.22421	0.69	0.36290	D	0.856339	B;B;P	0.35656	0.025;0.025;0.514	B;B;B	0.36030	0.022;0.022;0.216	T	0.26326	-1.0106	10	0.48119	T	0.1	.	15.0274	0.71680	0.0:0.0:0.0:1.0	.	58;58;58	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	58	ENSP00000360171:N58T;ENSP00000403954:N58T	ENSP00000360171:N58T	N	-	2	0	ODZ1	123925111	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	5.454000	0.66651	1.931000	0.55961	0.486000	0.48141	AAT		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		109	164	0	0	0	0.00361	0	109	164				
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:131228118G>T	ENST00000298542.4	-	5	509	c.334C>A	c.(334-336)Cca>Aca	p.P112T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P97T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.P112T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCATGGAAGCCTTCCT	0.403																																							uc004ewn.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(334-336)CCA>ACA		FERM domain containing 7							181.0	153.0	162.0					X																	131228118		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131228118G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.334C>A	X.37:g.131228118G>T	ENSP00000298542:p.Pro112Thr					FRMD7_uc011muy.1_Missense_Mutation_p.P97T	p.P112T	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			5	512	-	Acute lymphoblastic leukemia(192;0.000127)		112			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.334C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327334	0.41197	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78003	-1.14;-1.14	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.054676	0.64402	D	0.000001	T	0.80904	0.4713	L	0.28115	0.83	0.41857	D	0.990201	D;P	0.89917	1.0;0.924	D;P	0.91635	0.999;0.52	T	0.78760	-0.2078	10	0.25106	T	0.35	.	16.8125	0.85724	0.0:0.0:1.0:0.0	.	97;112	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	112;97	ENSP00000298542:P112T;ENSP00000417996:P97T	ENSP00000298542:P112T	P	-	1	0	FRMD7	131055799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.776000	0.62354	2.262000	0.75019	0.529000	0.55759	CCA		0.403	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		74	113	1	0	1.43161e-34	0.00361	2.58038e-34	74	113				
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:151303881G>T	ENST00000370323.4	-	4	528	c.212C>A	c.(211-213)cCa>cAa	p.P71Q	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P71Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71						nucleus (GO:0005634)		p.P71Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCCTCTGGGGTGCTTGG	0.532																																							uc004ffk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(211-213)CCA>CAA		melanoma antigen family A, 10							100.0	103.0	102.0					X																	151303881		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303881G>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.212C>A	X.37:g.151303881G>T	ENSP00000359347:p.Pro71Gln					MAGEA10_uc004ffl.2_Missense_Mutation_p.P71Q	p.P71Q	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	620	-	Acute lymphoblastic leukemia(192;6.56e-05)		71						Missense_Mutation	SNP	ENST00000370323.4	37	c.212C>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461184	0.12342	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	2.08	0.106	0.14540	Melanoma associated antigen, MAGE, N-terminal (1);	1.873540	0.03003	N	0.148465	T	0.07052	0.0179	L	0.53729	1.69	0.09310	N	1	B	0.16396	0.017	B	0.19666	0.026	T	0.40421	-0.9564	10	0.13853	T	0.58	.	2.2805	0.04113	0.1947:0.0:0.5062:0.2991	.	71	P43363	MAGAA_HUMAN	Q	71	ENSP00000359347:P71Q;ENSP00000244096:P71Q;ENSP00000406161:P71Q;ENSP00000391977:P71Q	ENSP00000244096:P71Q	P	-	2	0	MAGEA10	151054537	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	0.159000	0.16442	-0.060000	0.13132	0.287000	0.19450	CCA		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		112	163	1	0	2.68928e-46	0.00361	4.98357e-46	112	163				
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153130579C>A	ENST00000370060.1	-	22	3025	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	L1CAM_ENST00000538883.1_Missense_Mutation_p.G948C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G946C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G946C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G941C|L1CAM_ENST00000543994.1_Missense_Mutation_p.G948C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G941C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	946	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Missing (in HSAS). {ECO:0000269|PubMed:9195224}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCACGCCGTTGTGGCTG	0.711																																							uc004fjb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(1)	9						c.(2836-2838)GGC>TGC		L1 cell adhesion molecule isoform 1 precursor							23.0	22.0	22.0					X																	153130579		2199	4293	6492	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130579C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2836G>T	X.37:g.153130579C>A	ENSP00000359077:p.Gly946Cys					L1CAM_uc004fjc.2_Missense_Mutation_p.G946C|L1CAM_uc010nuo.2_Missense_Mutation_p.G941C	p.G946C	NM_000425	NP_000416	P32004	L1CAM_HUMAN			21	2944	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		946		Missing (in HSAS).	Extracellular (Potential).|Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2836G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150209	0.78001	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000024	D	0.84442	0.5473	H	0.94620	3.56	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	0.89017	0.3432	10	0.87932	D	0	.	15.0584	0.71933	0.0:1.0:0.0:0.0	.	941;946;946	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	946;948;946;948;941;941;946	ENSP00000359077:G946C;ENSP00000438430:G948C;ENSP00000359074:G946C;ENSP00000439645:G948C;ENSP00000354712:G941C;ENSP00000359072:G941C;ENSP00000355380:G946C	ENSP00000355380:G946C	G	-	1	0	L1CAM	152783773	1.000000	0.71417	0.966000	0.40874	0.595000	0.36748	6.403000	0.73264	2.143000	0.66587	0.523000	0.50628	GGC		0.711	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		10	18	1	0	1.15088e-07	0.004007	1.44285e-07	10	18				
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153588257G>C	ENST00000369850.3	-	23	4058	c.3822C>G	c.(3820-3822)gcC>gcG	p.A1274A	FLNA_ENST00000360319.4_Silent_p.A1274A|FLNA_ENST00000422373.1_Silent_p.A1274A|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Silent_p.A1274A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1274					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.A1274A(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGTGGTGGCCTCACGGA	0.657																																							uc004fkk.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(6)	6						c.(3820-3822)GCC>GCG		filamin A, alpha isoform 2							43.0	45.0	44.0					X																	153588257		1998	4129	6127	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588257G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3822C>G	X.37:g.153588257G>C						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.A1274A	p.A1274A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			23	4071	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1274			Filamin 11.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.3822C>G	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			41	62	0	0	0	0.00361	0	41	62				
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970|rs6667693|rs537852372|rs61775088|rs61775087|rs151149897|rs61775086|rs61775085|rs61775084|rs1134584|rs568953708	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	-	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000374222.1	-	16	1974_1997	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_ENST00000314675.7_In_Frame_Del_p.GPGPGPSP384del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del			Q5T124	UBX11_HUMAN	UBX domain protein 11	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714																																							uc001blw.2		NA																	2	Insertion - In frame(1)|Deletion - In frame(1)		upper_aerodigestive_tract(1)|ovary(1)	ovary(1)	1						c.(1510-1533)GGTCCCGGTCCCGGCCCCAGTCCCdel		socius isoform 2			,,	1160,368		529,102,133					,,	-2.8	0.0		dbSNP_134	34	3900,354		1880,140,107	no	coding,coding,coding	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	,,	2409,242,240	A1A1,A1R,RR		8.3216,24.0838,12.487	,,	,,		5060,722				SO:0001651	inframe_deletion	91544					cytoplasm|cytoskeleton		g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	1.37:g.26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENSP00000363339:p.Gly504_Pro511del					UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blv.2_In_Frame_Del_p.GPGPGPSP466del|UBXN11_uc001bly.2_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blx.2_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.2_In_Frame_Del_p.GPGPGPSP471del	p.GPGPGPSP504del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			16	1783_1806	-			504_511			Pro-rich.		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Del	DEL	ENST00000374222.1	37	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	CCDS41288.1																																																																																				0.714	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		11	86	NA	NA	NA	NA	NA	11	86	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75596416	75596416	+	Splice_Site	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:75596416delG	ENST00000294638.5	+	2	681	c.17delG	c.(16-18)agg>ag	p.R6fs	RP11-510C10.3_ENST00000427892.1_RNA|RP11-510C10.2_ENST00000446238.1_RNA	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	6					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATTCTGAGCAGGGTAAGTTTG	0.448																																							uc001dgo.2		NA																	0				ovary(3)	3						c.(16-18)AGGfs		LIM homeobox 8							134.0	142.0	140.0					1																	75596416		2203	4300	6503	SO:0001630	splice_region_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75596416delG	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.18+1G>-	1.37:g.75596416delG						uc001dgp.1_RNA	p.R6fs	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			2	681	+			6					E9PGE3	Frame_Shift_Del	DEL	ENST00000294638.5	37	c.17delG	CCDS30756.1																																																																																				0.448	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	Frame_Shift_Del	59	183	NA	NA	NA	NA	NA	59	183	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176927566delC	ENST00000367654.3	-	10	1886	c.1675delG	c.(1675-1677)gtgfs	p.V559fs	ASTN1_ENST00000367657.3_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000424564.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	559					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)				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						GGTGGAATCACAAAGCTCTTG	0.557																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1651-1653)GTGfs		astrotactin isoform 1							104.0	78.0	87.0					1																	176927566		2203	4300	6503	SO:0001589	frameshift_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927566delC	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.1675delG	1.37:g.176927566delC	ENSP00000356626:p.Val559fs					ASTN1_uc001glb.1_Frame_Shift_Del_p.V551fs|ASTN1_uc001gld.1_Frame_Shift_Del_p.V551fs|ASTN1_uc009wwx.1_Frame_Shift_Del_p.V551fs	p.V551fs	NM_004319	NP_004310	O14525	ASTN1_HUMAN			10	1863	-			559					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Frame_Shift_Del	DEL	ENST00000367654.3	37	c.1651delG																																																																																					0.557	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		25	61	NA	NA	NA	NA	NA	25	61	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371236	240371236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:240371236delC	ENST00000319653.9	+	5	3354	c.3124delC	c.(3124-3126)cccfs	p.P1046fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1046	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCC	0.726																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3124-3126)CCCfs		formin 2							3.0	4.0	4.0					1																	240371236		1417	3120	4537	SO:0001589	frameshift_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371236delC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3124delC	1.37:g.240371236delC	ENSP00000318884:p.Pro1046fs					FMN2_uc010pye.1_Frame_Shift_Del_p.P1046fs	p.P1042fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3349	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1042			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	c.3124delC	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	6	NA	NA	NA	NA	NA	3	6	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339717	55339717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55339717delG	ENST00000314634.3	+	1	114	c.114delG	c.(112-114)ttgfs	p.L38fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAACACTGTTGGGTAATTTGC	0.373																																							uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(112-114)TTGfs		olfactory receptor, family 4, subfamily C,							223.0	208.0	213.0					11																	55339717		2201	4296	6497	SO:0001589	frameshift_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339717delG	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.114delG	11.37:g.55339717delG	ENSP00000324913:p.Leu38fs						p.L38fs	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	114	+		all_epithelial(135;0.0748)	38			Helical; Name=1; (Potential).		Q6IEV8	Frame_Shift_Del	DEL	ENST00000314634.3	37	c.114delG	CCDS31502.1																																																																																				0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		41	164	NA	NA	NA	NA	NA	41	164	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185244	56185244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56185244delA	ENST00000312253.1	-	1	464	c.465delT	c.(463-465)gttfs	p.V155fs		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GGAAGAGGGCAACCAGGAAGC	0.453																																							uc010rji.1		NA																	0				ovary(2)	2						c.(463-465)GTTfs		olfactory receptor, family 5, subfamily R,							112.0	113.0	113.0					11																	56185244		2201	4296	6497	SO:0001589	frameshift_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185244delA	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.465delT	11.37:g.56185244delA	ENSP00000308595:p.Val155fs						p.V155fs	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	465	-	Esophageal squamous(21;0.00448)		155			Helical; Name=4; (Potential).			Frame_Shift_Del	DEL	ENST00000312253.1	37	c.465delT	CCDS31530.1																																																																																				0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		25	59	NA	NA	NA	NA	NA	25	59	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113711406	113711406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:113711406delG	ENST00000335509.6	+	10	1189	c.875delG	c.(874-876)cggfs	p.R292fs	TPCN1_ENST00000550785.1_Frame_Shift_Del_p.R364fs|TPCN1_ENST00000392569.4_Frame_Shift_Del_p.R224fs|TPCN1_ENST00000541517.1_Frame_Shift_Del_p.R364fs	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	292					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTACTCCCGGAACCCCTGG	0.537																																							uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(874-876)CGGfs		two pore segment channel 1 isoform 2							310.0	230.0	257.0					12																	113711406		2203	4300	6503	SO:0001589	frameshift_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113711406delG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.875delG	12.37:g.113711406delG	ENSP00000335300:p.Arg292fs					TPCN1_uc001tux.2_Frame_Shift_Del_p.R364fs|TPCN1_uc010syt.1_Frame_Shift_Del_p.R224fs	p.R292fs	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			10	1172	+			292			Extracellular (Potential).		A7E258|Q86XS9|Q8NC20	Frame_Shift_Del	DEL	ENST00000335509.6	37	c.875delG	CCDS31908.1																																																																																				0.537	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		79	262	NA	NA	NA	NA	NA	79	262	---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	64006248	64006248	+	Splice_Site	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:64006248delT	ENST00000337537.3	-	2	758	c.156delA	c.(154-156)aaa>aa	p.K52fs	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.K52fs	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	52					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAGCCTTACCTTTTAGCAGCG	0.398																																							uc001xgd.1		NA																	0				ovary(1)	1						c.(154-156)AAAfs		epsilon isoform of regulatory subunit B56,							153.0	132.0	139.0					14																	64006248		2203	4300	6503	SO:0001630	splice_region_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006248delT	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.157+1A>-	14.37:g.64006248delT						PPP2R5E_uc001xge.2_Frame_Shift_Del_p.K52fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.K52fs|PPP2R5E_uc001xgf.1_RNA|PPP2R5E_uc001xgg.3_Frame_Shift_Del_p.K52fs	p.K52fs	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	746	-			52					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Frame_Shift_Del	DEL	ENST00000337537.3	37	c.156delA	CCDS9758.1																																																																																				0.398	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Frame_Shift_Del	30	127	NA	NA	NA	NA	NA	30	127	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79181428	79181429	+	Frame_Shift_Ins	INS	-	-	A	rs570030401		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:79181428_79181429insA	ENST00000554719.1	+	5	1362_1363	c.871_872insA	c.(871-873)cgcfs	p.R291fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.R291fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCTGGAACCGCTTCATCTGC	0.584																																							uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(871-873)CGCfs		neurexin 3 isoform 1 precursor																																				SO:0001589	frameshift_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79181428_79181429insA	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		Exception_encountered	14.37:g.79181428_79181429insA	ENSP00000451648:p.Arg291fs					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Frame_Shift_Ins_p.R425fs	p.R291fs	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1362_1363	+		Renal(4;0.00876)	664			EGF-like 2.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Frame_Shift_Ins	INS	ENST00000554719.1	37	c.871_872insA	CCDS9870.1																																																																																				0.584	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		26	85	NA	NA	NA	NA	NA	26	85	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	G	-	rs397515272		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2114374delG	ENST00000219476.3	+	15	2175	c.1545delG	c.(1543-1545)ctgfs	p.L515fs	TSC2_ENST00000353929.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.L515fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.L478fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.L526fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.L466fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.L515fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	515					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGGACCTGGCAGAGGGCT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1543-1545)CTGfs		tuberous sclerosis 2 isoform 1							81.0	81.0	81.0					16																	2114374		2198	4300	6498	SO:0001589	frameshift_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2114374delG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1545delG	16.37:g.2114374delG	ENSP00000219476:p.Leu515fs					TSC2_uc010bsd.2_Frame_Shift_Del_p.L515fs|TSC2_uc002coo.2_Frame_Shift_Del_p.L515fs|TSC2_uc010uvv.1_Frame_Shift_Del_p.L478fs|TSC2_uc010uvw.1_Frame_Shift_Del_p.L466fs|TSC2_uc002cop.2_Frame_Shift_Del_p.L315fs	p.L515fs	NM_000548	NP_000539	P49815	TSC2_HUMAN			15	1651	+		Hepatocellular(780;0.0202)	515					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Del	DEL	ENST00000219476.3	37	c.1545delG	CCDS10458.1																																																																																				0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		93	136	NA	NA	NA	NA	NA	93	136	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29821421	29821435	+	In_Frame_Del	DEL	GCGGCGGCAGCGGCA	GCGGCGGCAGCGGCA	-	rs370462022|rs374878500|rs530039776|rs532656391|rs368894015|rs565282629|rs75194070|rs201662748	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GCGGCGGCAGCGGCA	GCGGCGGCAGCGGCA	-	-	GCGGCGGCAGCGGCA	GCGGCGGCAGCGGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:29821421_29821435delGCGGCGGCAGCGGCA	ENST00000322945.6	+	5	1468_1482	c.1303_1317delGCGGCGGCAGCGGCA	c.(1303-1317)gcggcggcagcggcadel	p.AAAAA440del	MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAA417del|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000358758.7_5'Flank|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAA135del|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAA41del|MAZ_ENST00000563402.1_Splice_Site_p.94_96GGG>G|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000566906.2_Splice_Site|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	440	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGTCCAATggcggcggcagcggcagcggcggcag	0.665														61	0.0121805	0.0189	0.0029	5008	,	,		13959	0.002		0.003	False		,,,				2504	0.0297				Colon(72;875 1167 15364 30899 37091)	Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(1303-1317)GCGGCGGCAGCGGCAdel		MYC-associated zinc finger protein isoform 1			,	36,115,3849		9,0,18,21,73,1879					,	2.9	1.0			33	57,176,7789		19,0,19,27,122,3824	no	codingComplex,utr-3	MAZ	NM_002383.2,NM_001042539.1	,	28,0,37,48,195,5703	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9045,3.775,3.1941	,	,		93,291,11638				SO:0001651	inframe_deletion	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821421_29821435delGCGGCGGCAGCGGCA	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1303_1317delGCGGCGGCAGCGGCA	16.37:g.29821421_29821435delGCGGCGGCAGCGGCA	ENSP00000313362:p.Ala440_Ala444del					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_In_Frame_Del_p.AAAAA417del|MAZ_uc002dtw.2_Splice_Site_p.D94_splice|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_In_Frame_Del_p.AAAAA135del|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_In_Frame_Del_p.AAAAA41del|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank	p.AAAAA440del	NM_002383	NP_002374	P56270	MAZ_HUMAN			5	1471_1485	+			440_444	Missing (in Ref. 3).		Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	In_Frame_Del	DEL	ENST00000322945.6	37	c.1303_1317delGCGGCGGCAGCGGCA	CCDS42143.1																																																																																				0.665	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		16	89	NA	NA	NA	NA	NA	16	89	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	C	-	rs569889555		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:49672282delC	ENST00000561648.1	-	4	834	c.781delG	c.(781-783)gacfs	p.D262fs	ZNF423_ENST00000567169.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.D262fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.D145fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	262					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGAAGTCGTCCTTCTTGGCT	0.607																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(781-783)GACfs		zinc finger protein 423							52.0	45.0	48.0					16																	49672282		2198	4300	6498	SO:0001589	frameshift_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672282delC	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.781delG	16.37:g.49672282delC	ENSP00000455426:p.Asp262fs					ZNF423_uc010vgn.1_Frame_Shift_Del_p.D144fs	p.D261fs	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1079	-		all_cancers(37;0.0155)	261					O94860|Q76N04|Q9NZ13	Frame_Shift_Del	DEL	ENST00000561648.1	37	c.781delG	CCDS32445.1																																																																																				0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		30	48	NA	NA	NA	NA	NA	30	48	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193314	7193314	+	Frame_Shift_Del	DEL	G	G	-	rs536640539	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:7193314delG	ENST00000007699.5	-	6	884	c.821delC	c.(820-822)ccgfs	p.P275fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	275	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAATCTGGGCGGGGGGACTCG	0.627																																							uc002gfq.2		NA																	0					0						c.(820-822)CCGfs		Y box binding protein 2							45.0	50.0	48.0					17																	7193314		2203	4300	6503	SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193314delG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.821delC	17.37:g.7193314delG	ENSP00000007699:p.Pro275fs						p.P274fs	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			6	878	-			274			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Frame_Shift_Del	DEL	ENST00000007699.5	37	c.821delC	CCDS11098.1																																																																																				0.627	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		34	101	NA	NA	NA	NA	NA	34	101	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10303967	10303967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10303967delC	ENST00000403437.2	-	27	3569	c.3475delG	c.(3475-3477)gcafs	p.A1159fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1159					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)			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						GCAGAAGTTGCCCCACCGGCT	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3475-3477)GCAfs		myosin, heavy chain 8, skeletal muscle,							82.0	92.0	89.0					17																	10303967		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:10303967delC		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.3475delG	17.37:g.10303967delC	ENSP00000384330:p.Ala1159fs					uc002gml.1_Intron	p.A1159fs	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3570	-			1159			Potential.		Q14910	Frame_Shift_Del	DEL	ENST00000403437.2	37	c.3475delG	CCDS11153.1																																																																																				0.607	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		62	195	NA	NA	NA	NA	NA	62	195	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27448150	27448150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:27448150delG	ENST00000527372.1	-	6	1631	c.1451delC	c.(1450-1452)gcgfs	p.A484fs	MYO18A_ENST00000531253.1_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000354329.4_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000533112.1_Frame_Shift_Del_p.A484fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	484	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATCAGCATCGCCCTGTATGC	0.597																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(1450-1452)GCGfs		myosin 18A isoform a							44.0	46.0	45.0					17																	27448150		2141	4244	6385	SO:0001589	frameshift_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448150delG	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1451delC	17.37:g.27448150delG	ENSP00000437073:p.Ala484fs					MYO18A_uc010wbc.1_Frame_Shift_Del_p.A26fs|MYO18A_uc002hds.2_Frame_Shift_Del_p.A26fs|MYO18A_uc010csa.1_Frame_Shift_Del_p.A484fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.A484fs|MYO18A_uc010wbd.1_Frame_Shift_Del_p.A153fs	p.A484fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1609	-			484			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Del	DEL	ENST00000527372.1	37	c.1451delC	CCDS45642.1																																																																																				0.597	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	17	NA	NA	NA	NA	NA	13	17	---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59946733	59946733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:59946733delT	ENST00000444766.3	-	22	3138	c.3063delA	c.(3061-3063)ccafs	p.P1021fs	INTS2_ENST00000251334.6_Frame_Shift_Del_p.P1013fs	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1021					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAGTTCACATGGATAACCCT	0.363																																							uc002izn.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(3061-3063)CCAfs		integrator complex subunit 2							31.0	28.0	29.0					17																	59946733		1819	4072	5891	SO:0001589	frameshift_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59946733delT	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3063delA	17.37:g.59946733delT	ENSP00000414237:p.Pro1021fs					INTS2_uc002izm.2_Frame_Shift_Del_p.P1013fs	p.P1021fs	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			22	3139	-			1021					Q9ULD3	Frame_Shift_Del	DEL	ENST00000444766.3	37	c.3063delA	CCDS45750.1																																																																																				0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		3	6	NA	NA	NA	NA	NA	3	6	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																							uc002pbq.1		NA																	0				large_intestine(2)|ovary(2)	4						c.(631-636)CGGAAG>CGG		CD3E antigen, epsilon polypeptide associated			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	p.K217del	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	217			Poly-Lys.		Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		12	351	NA	NA	NA	NA	NA	12	351	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026217	129026217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:129026217delC	ENST00000259241.6	-	2	768	c.755delG	c.(754-756)cgcfs	p.R252fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	252					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCCAGCATGCGCACCTGGCG	0.657																																							uc002tpt.3		NA																	0				pancreas(1)	1						c.(754-756)CGCfs		heparan sulfate 6-O-sulfotransferase 1							12.0	15.0	14.0					2																	129026217		1964	4138	6102	SO:0001589	frameshift_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026217delC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.755delG	2.37:g.129026217delC	ENSP00000259241:p.Arg252fs						p.R252fs	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	789	-	Colorectal(110;0.1)		252			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Frame_Shift_Del	DEL	ENST00000259241.6	37	c.755delG	CCDS42748.1																																																																																				0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		12	44	NA	NA	NA	NA	NA	12	44	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433097	73433098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:73433097_73433098insA	ENST00000263666.4	-	10	2733_2734	c.2619_2620insT	c.(2617-2622)atcccgfs	p.P874fs	PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.P596fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.P531fs|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.P531fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.P591fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	874					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTGCGCCGGGATGTGCGCGT	0.649																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2617-2622)ATCCCGfs		PDZ domain containing ring finger 3																																				SO:0001589	frameshift_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433097_73433098insA	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2619_2620insT	3.37:g.73433097_73433098insA	ENSP00000263666:p.Pro874fs					PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.I530fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.I571fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.I590fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.I593fs	p.I873fs	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2715_2716	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	873_874					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Frame_Shift_Ins	INS	ENST00000263666.4	37	c.2619_2620insT	CCDS33789.1																																																																																				0.649	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		18	124	NA	NA	NA	NA	NA	18	124	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35988559	35988560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35988559_35988560insA	ENST00000274278.3	-	2	545_546	c.188_189insT	c.(187-189)ttgfs	p.L63fs	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Frame_Shift_Ins_p.L63fs|UGT3A1_ENST00000333811.4_Frame_Shift_Ins_p.L9fs	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	63						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTGGGATCAAAAACTTTCC	0.327																																							uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(187-189)TTGfs		UDP glycosyltransferase 3 family, polypeptide A1																																				SO:0001589	frameshift_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988559_35988560insA		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.189dupT	5.37:g.35988564_35988564dupA	ENSP00000274278:p.Leu63fs					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Frame_Shift_Ins_p.L63fs|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_Frame_Shift_Ins_p.L9fs	p.L63fs	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	345_346	-	all_lung(31;0.000197)		63			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Frame_Shift_Ins	INS	ENST00000274278.3	37	c.188_189insT	CCDS3913.1																																																																																				0.327	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		19	43	NA	NA	NA	NA	NA	19	43	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																							uc003kwq.2		NA																	1	Insertion - Frameshift(1)		ovary(1)		0						c.(1513-1515)CTTfs		solute carrier family 22 member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					uc003kwr.3_Intron	p.L505fs	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1679	+		all_cancers(142;0.0752)|Breast(839;0.198)	505			Helical; Name=12; (Potential).		O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		9	504	NA	NA	NA	NA	NA	9	504	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147443647	147443647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:147443647delC	ENST00000256084.7	+	1	82	c.40delC	c.(40-42)cttfs	p.L14fs	SPINK5_ENST00000398454.1_Frame_Shift_Del_p.L14fs|SPINK5_ENST00000359874.3_Frame_Shift_Del_p.L14fs	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	14					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTGGCTCTTTGCCTCAT	0.507																																							uc003lox.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(40-42)CTTfs		serine peptidase inhibitor, Kazal type 5 isoform							210.0	206.0	207.0					5																	147443647		2058	4203	6261	SO:0001589	frameshift_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147443647delC	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.40delC	5.37:g.147443647delC	ENSP00000256084:p.Leu14fs					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_5'UTR|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L14fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L14fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L14fs	p.L14fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	113	+			14					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Frame_Shift_Del	DEL	ENST00000256084.7	37	c.40delC	CCDS43382.1																																																																																				0.507	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		19	160	NA	NA	NA	NA	NA	19	160	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-	rs139277418	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176026665delG	ENST00000303991.4	-	2	348	c.171delC	c.(169-171)cccfs	p.P57fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	57					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTGCCTGGGGGGTGCAG	0.662																																							uc003meo.1		NA																	0				ovary(2)	2						c.(169-171)CCCfs		G protein-regulated inducer of neurite outgrowth							51.0	59.0	56.0					5																	176026665		2203	4299	6502	SO:0001589	frameshift_variant	114787					growth cone|plasma membrane		g.chr5:176026665delG	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.171delC	5.37:g.176026665delG	ENSP00000305839:p.Pro57fs						p.P57fs	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	346	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	57					C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	ENST00000303991.4	37	c.171delC	CCDS4405.1																																																																																				0.662	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		44	301	NA	NA	NA	NA	NA	44	301	---	---	---	---
CMTR1	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	C	-	rs377340604		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:37430722delC	ENST00000373451.4	+	13	1607	c.1443delC	c.(1441-1443)gtcfs	p.V481fs		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	481					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ACTTGGTGGTCCCCCTGGAGG	0.498																																							uc003ons.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1441-1443)GTCfs		FtsJ methyltransferase domain containing 2							189.0	167.0	174.0					6																	37430722		2203	4300	6503	SO:0001589	frameshift_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37430722delC	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1443delC	6.37:g.37430722delC	ENSP00000362550:p.Val481fs						p.V481fs	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			13	1696	+			481					A8K949|Q14670|Q96FJ9	Frame_Shift_Del	DEL	ENST00000373451.4	37	c.1443delC	CCDS4835.1																																																																																				0.498	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		74	168	NA	NA	NA	NA	NA	74	168	---	---	---	---
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:70514295delA	ENST00000276079.8	+	5	772	c.567delA	c.(565-567)ggafs	p.G189fs	NONO_ENST00000535149.1_Frame_Shift_Del_p.G100fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.G189fs|NONO_ENST00000373856.3_Frame_Shift_Del_p.G189fs|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCCCTCAGGAAAAGGCATTG	0.512			T	TFE3	papillary renal cancer																																		uc004dzo.2		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				ovary(2)|kidney(2)	4						c.(565-567)GGAfs		non-POU domain containing, octamer-binding							79.0	63.0	69.0					X																	70514295		2203	4300	6503	SO:0001589	frameshift_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514295delA	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.567delA	X.37:g.70514295delA	ENSP00000276079:p.Gly189fs					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Frame_Shift_Del_p.G189fs|NONO_uc004dzp.2_Frame_Shift_Del_p.G189fs|NONO_uc011mpv.1_Frame_Shift_Del_p.G100fs|NONO_uc004dzq.2_Frame_Shift_Del_p.G58fs	p.G189fs	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			6	1277	+	Renal(35;0.156)		189			RRM 2.|DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Frame_Shift_Del	DEL	ENST00000276079.8	37	c.567delA	CCDS14410.1																																																																																				0.512	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		25	42	NA	NA	NA	NA	NA	25	42	---	---	---	---
