#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	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
SCNN1D	6339	hgsc.bcm.edu	37	1	1226692	1226692	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:1226692T>C	ENST00000338555.2	+	15	2763	c.1619T>C	c.(1618-1620)gTc>gCc	p.V540A	SCNN1D_ENST00000379116.5_Missense_Mutation_p.V704A|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V540A|SCNN1D_ENST00000325425.8_Missense_Mutation_p.V606A			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	540					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)			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)	GGGGCCTCCGTCCTCTCCCTC	0.731																																					p.V704A		.											.	SCNN1D-90	0			c.T2111C						.						17.0	14.0	15.0					1																	1226692		2140	4214	6354	SO:0001583	missense	6339	exon18			CCTCCGTCCTCTC	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.1619T>C	1.37:g.1226692T>C	ENSP00000339504:p.Val540Ala	4	0		40	38	NM_001130413	0	0	0	3	3	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	T	12.55	1.973078	0.34848	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.09	1.7	0.24286	.	0.000000	0.44483	U	0.000451	T	0.77772	0.4180	M	0.85630	2.765	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.996	D;D;P	0.67725	0.953;0.952;0.834	T	0.67035	-0.5772	10	0.87932	D	0	.	4.941	0.13965	0.0:0.0985:0.1867:0.7147	.	362;540;704	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	A	571;704;540;606;540	ENSP00000368411:V704A;ENSP00000339504:V540A;ENSP00000321594:V606A;ENSP00000383717:V540A	ENSP00000321594:V606A	V	+	2	0	SCNN1D	1216555	0.257000	0.24022	0.001000	0.08648	0.776000	0.43924	1.678000	0.37586	0.159000	0.19401	0.260000	0.18958	GTC	.		0.731	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	
ATAD3B	83858	hgsc.bcm.edu	37	1	1431081	1431081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:1431081delT	ENST00000308647.7	+	16	1947	c.1831delT	c.(1831-1833)tgcfs	p.C611fs		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	611						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		TGCCGGCCCCTGCACATTTAG	0.682																																					p.C611fs		.											.	ATAD3B-44	0			c.1831delT						.			8,4258		0,8,2125	34.0	35.0	35.0			-0.2	0.0	1		35	104,8150		0,104,4023	no	frameshift	ATAD3B	NM_031921.4		0,112,6148	A1A1,A1R,RR		1.26,0.1875,0.8946			1431081	112,12408	2203	4300	6503	SO:0001589	frameshift_variant	83858	exon16			GGCCCCTGCACAT	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1831delT	1.37:g.1431081delT	ENSP00000311766:p.Cys611fs	32	0		88	18	NM_031921	0	0	0	0	0	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Frame_Shift_Del	DEL	ENST00000308647.7	37	CCDS30.1																																																																																			.		0.682	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
CHD5	26038	bcgsc.ca;mdanderson.org	37	1	6194223	6194223	+	Missense_Mutation	SNP	G	G	A	rs200489902		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:6194223G>A	ENST00000262450.3	-	20	3208	c.3109C>T	c.(3109-3111)Cgg>Tgg	p.R1037W	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCTCATCCCGCAGTTTCTTC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16082	0.0		0.001	False		,,,				2504	0.0				p.R1037W		.											.	CHD5-719	0			c.C3109T						.						84.0	82.0	83.0					1																	6194223		2203	4300	6503	SO:0001583	missense	26038	exon20			CATCCCGCAGTTT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3109C>T	1.37:g.6194223G>A	ENSP00000262450:p.Arg1037Trp	39	1		41	34	NM_015557	0	0	0	0	0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.025384	0.75390	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.70869	-0.52	4.67	2.69	0.31865	Helicase, C-terminal (1);	0.081790	0.48286	D	0.000195	T	0.73071	0.3540	M	0.64170	1.965	0.80722	D	1	D	0.64830	0.994	P	0.50570	0.644	T	0.75062	-0.3450	10	0.87932	D	0	-30.2926	12.4199	0.55514	0.0:0.0:0.5591:0.4409	.	1037	Q8TDI0	CHD5_HUMAN	W	1037;553;445;445	ENSP00000262450:R1037W	ENSP00000262450:R1037W	R	-	1	2	CHD5	6116810	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.411000	0.52672	0.441000	0.26529	0.561000	0.74099	CGG	G|0.999;A|0.000		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
RPL22	6146	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																p.K15fs		.		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	.	RPL22-650	1	Deletion - Frameshift(1)	large_intestine(1)	c.44delA						.						62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	6146	exon2			TGCTTCTTTTTTT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs	38	0		22	18	NM_000983	0	0	0	0	0	B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																			.		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
PLEKHG5	57449	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	6534211	6534211	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:6534211A>G	ENST00000400915.3	-	8	687	c.621T>C	c.(619-621)ccT>ccC	p.P207P	PLEKHG5_ENST00000377748.1_Silent_p.P228P|PLEKHG5_ENST00000377728.3_Silent_p.P151P|PLEKHG5_ENST00000400913.1_Silent_p.P151P|PLEKHG5_ENST00000544978.1_Silent_p.P151P|PLEKHG5_ENST00000537245.1_Silent_p.P230P|PLEKHG5_ENST00000377725.1_Silent_p.P151P|PLEKHG5_ENST00000377732.1_Silent_p.P188P|PLEKHG5_ENST00000535355.1_Silent_p.P220P|PLEKHG5_ENST00000340850.5_Silent_p.P151P|PLEKHG5_ENST00000377740.3_Silent_p.P228P|PLEKHG5_ENST00000377737.2_Silent_p.P151P	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	207					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCATCTCCAGGCTTGGCTG	0.672																																					p.P230P		.											.	PLEKHG5-652	0			c.T690C						.						29.0	30.0	30.0					1																	6534211		2202	4300	6502	SO:0001819	synonymous_variant	57449	exon8			ATCTCCAGGCTTG	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.621T>C	1.37:g.6534211A>G		52	0		58	43	NM_001265592	0	0	0	5	5	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																			.		0.672	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	
PER3	8863	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	7887490	7887490	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:7887490G>T	ENST00000361923.2	+	17	2652	c.2477G>T	c.(2476-2478)gGg>gTg	p.G826V	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.G834V	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	826	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCATGGGCTGCCCTTG	0.602																																					p.G826V		.											.	PER3-93	0			c.G2477T						.						93.0	94.0	94.0					1																	7887490		2203	4300	6503	SO:0001583	missense	8863	exon17			TGCATGGGCTGCC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2477G>T	1.37:g.7887490G>T	ENSP00000355031:p.Gly826Val	53	1		80	66	NM_016831	0	0	0	0	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	5.961	0.361307	0.11296	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09817	2.94;2.95	3.21	-4.31	0.03698	.	3.840100	0.00397	N	0.000048	T	0.07458	0.0188	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44734	0.842;0.704;0.804;0.842	B;B;B;B	0.40864	0.302;0.13;0.342;0.302	T	0.21621	-1.0240	10	0.27082	T	0.32	.	2.8614	0.05588	0.185:0.3879:0.3078:0.1193	.	826;834;834;826	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	834;826;37	ENSP00000366755:G834V;ENSP00000355031:G826V	ENSP00000355031:G826V	G	+	2	0	PER3	7810077	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.449000	0.06812	-0.885000	0.03971	-0.378000	0.06908	GGG	.		0.602	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
UBE4B	10277	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	10197164	10197164	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:10197164C>T	ENST00000253251.8	+	16	2716	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	UBE4B_ENST00000377157.3_Missense_Mutation_p.T510M|UBE4B_ENST00000343090.6_Missense_Mutation_p.T755M					ubiquitination factor E4B											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)		AAATTCCCTACGGAGTGCTTC	0.463																																					p.T755M		.											.	UBE4B-229	0			c.C2264T						.						149.0	131.0	137.0					1																	10197164		2203	4300	6503	SO:0001583	missense	10277	exon17			TCCCTACGGAGTG	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.1877C>T	1.37:g.10197164C>T	ENSP00000253251:p.Thr626Met	91	1		66	57	NM_001105562	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353184	0.95830	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.59502	0.26;0.26;0.26	5.81	5.81	0.92471	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.84001	0.0343	10	0.87932	D	0	-19.7281	20.0833	0.97789	0.0:1.0:0.0:0.0	.	626;755;626	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	M	626;510;755	ENSP00000253251:T626M;ENSP00000366362:T510M;ENSP00000343001:T755M	ENSP00000253251:T626M	T	+	2	0	UBE4B	10119751	1.000000	0.71417	0.863000	0.33907	0.977000	0.68977	7.770000	0.85390	2.756000	0.94617	0.655000	0.94253	ACG	.		0.463	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
MASP2	10747	hgsc.bcm.edu	37	1	11105562	11105562	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:11105562C>T	ENST00000400897.3	-	4	462	c.447G>A	c.(445-447)gcG>gcA	p.A149A	MASP2_ENST00000400898.3_Silent_p.A149A	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	149	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGCAGGTGGGCGCCTCTCCCG	0.672																																					p.A149A	GBM(35;611 746 20780 22741 36496)	.											.	MASP2-94	0			c.G447A						.						35.0	36.0	36.0					1																	11105562		2202	4300	6502	SO:0001819	synonymous_variant	10747	exon4			GGTGGGCGCCTCT	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.447G>A	1.37:g.11105562C>T		6	0		134	115	NM_139208	0	0	0	0	0	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	CCDS123.1																																																																																			.		0.672	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
SPEN	23013	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	16254767	16254767	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:16254767C>T	ENST00000375759.3	+	11	2236	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	678	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATGATCCTCGGGAATACAG	0.428																																					p.R678W		.											.	SPEN-298	0			c.C2032T						.						137.0	132.0	134.0					1																	16254767		2203	4300	6503	SO:0001583	missense	23013	exon11			GATCCTCGGGAAT		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2032C>T	1.37:g.16254767C>T	ENSP00000364912:p.Arg678Trp	230	2		162	149	NM_015001	0	0	0	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474473	0.43942	.	.	ENSG00000065526	ENST00000375759	T	0.11604	2.76	4.84	4.84	0.62591	.	.	.	.	.	T	0.22126	0.0533	L	0.34521	1.04	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00534	-1.1684	9	0.72032	D	0.01	-7.3918	13.153	0.59500	0.1596:0.8404:0.0:0.0	.	678	Q96T58	MINT_HUMAN	W	678	ENSP00000364912:R678W	ENSP00000364912:R678W	R	+	1	2	SPEN	16127354	0.990000	0.36364	1.000000	0.80357	0.968000	0.65278	2.734000	0.47368	2.514000	0.84764	0.563000	0.77884	CGG	.		0.428	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
ARHGEF10L	55160	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	17982377	17982377	+	Frame_Shift_Del	DEL	G	G	-	rs374475787		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:17982377delG	ENST00000361221.3	+	24	2644	c.2485delG	c.(2485-2487)gggfs	p.G831fs	ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G604fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G792fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G534fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G826fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G792fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	831						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCCCAGGTCGGGGGCGGACA	0.657																																					p.G829fs		.											.	ARHGEF10L-292	0			c.2485delG						.						10.0	13.0	12.0					1																	17982377		2161	4228	6389	SO:0001589	frameshift_variant	55160	exon24			CAGGTCGGGGGCG	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2485delG	1.37:g.17982377delG	ENSP00000355060:p.Gly831fs	76	0		94	83	NM_018125	0	0	0	0	0	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	CCDS182.1																																																																																			.		0.657	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
MRTO4	51154	bcgsc.ca	37	1	19584004	19584004	+	Silent	SNP	G	G	A	rs1042380	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:19584004G>A	ENST00000330263.4	+	5	627	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	110					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCACAAAGGAGGAGGTGAATG	0.527													G|||	1259	0.251398	0.4932	0.183	5008	,	,		22095	0.1012		0.2266	False		,,,				2504	0.1534				p.E110E	GBM(192;2418 3032 7540 48714)	.											.	MRTO4-90	0			c.G330A						.	G		2091,2315	572.9+/-383.4	505,1081,617	147.0	142.0	144.0		330	-3.3	1.0	1	dbSNP_86	144	2104,6496	363.1+/-333.0	263,1578,2459	no	coding-synonymous	MRTO4	NM_016183.3		768,2659,3076	AA,AG,GG		24.4651,47.458,32.2543		110/240	19584004	4195,8811	2203	4300	6503	SO:0001819	synonymous_variant	51154	exon5			AAAGGAGGAGGTG	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.330G>A	1.37:g.19584004G>A		81	0		73	5	NM_016183	0	0	0	0	0	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																			G|0.711;A|0.289		0.527	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183	
VWA5B1	127731	broad.mit.edu;bcgsc.ca	37	1	20639404	20639404	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:20639404C>T	ENST00000375079.2	+	3	411	c.215C>T	c.(214-216)aCa>aTa	p.T72I	VWA5B1_ENST00000289825.4_5'UTR|VWA5B1_ENST00000375083.4_Missense_Mutation_p.T72I|RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000289815.8_Missense_Mutation_p.T72I	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	72	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						CGTGTCGTGACAGTACAGATC	0.592																																					p.T72I		.											.	.	0			c.C215T						.						69.0	62.0	64.0					1																	20639404		692	1591	2283	SO:0001583	missense	127731	exon3			TCGTGACAGTACA	AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.215C>T	1.37:g.20639404C>T	ENSP00000364220:p.Thr72Ile	112	0		168	7	NM_001039500	0	0	0	0	0	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	ENST00000375079.2	37		.	.	.	.	.	.	.	.	.	.	C	17.90	3.502334	0.64298	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000530722;ENST00000534075;ENST00000375079	T;T;T	0.05199	3.73;3.48;3.72	5.82	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.34521	1.04	0.80722	D	1	D	0.63046	0.992	D	0.63957	0.92	T	0.01608	-1.1313	10	0.52906	T	0.07	-7.3104	14.805	0.69945	0.1454:0.8546:0.0:0.0	.	72	Q5TIE3-2	.	I	72	ENSP00000289815:T72I;ENSP00000364224:T72I;ENSP00000364220:T72I	ENSP00000289815:T72I	T	+	2	0	VWA5B1	20511991	1.000000	0.71417	0.060000	0.19600	0.318000	0.28184	5.443000	0.66581	1.429000	0.47314	0.655000	0.94253	ACA	.		0.592	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000007945.4	XM_001722222	
EIF4G3	8672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	21276548	21276548	+	Silent	SNP	G	G	A	rs372335024		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:21276548G>A	ENST00000264211.8	-	7	797	c.603C>T	c.(601-603)agC>agT	p.S201S	EIF4G3_ENST00000602326.1_Silent_p.S207S|EIF4G3_ENST00000374937.3_Silent_p.S207S|EIF4G3_ENST00000374927.4_Silent_p.S201S|EIF4G3_ENST00000374935.3_Silent_p.S201S|EIF4G3_ENST00000356916.3_Silent_p.S212S|EIF4G3_ENST00000400422.1_Silent_p.S201S|EIF4G3_ENST00000536266.1_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	201					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAAGATGAGCGCTCTCCACAG	0.512																																					p.S212S		.											.	EIF4G3-91	0			c.C636T						.	G	,,,	0,4406		0,0,2203	67.0	66.0	66.0		600,621,636,603	4.8	1.0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G3	NM_001198801.1,NM_001198802.1,NM_001198803.1,NM_003760.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	200/1622,207/1592,212/516,201/1586	21276548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8672	exon13			ATGAGCGCTCTCC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.603C>T	1.37:g.21276548G>A		79	0		93	44	NM_001198803	0	0	2	3	1	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																			.		0.512	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
SRRM1	10250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24993380	24993380	+	Missense_Mutation	SNP	G	G	A	rs370225206		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:24993380G>A	ENST00000323848.9	+	13	2018	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R580Q|SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.R577Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	568	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCCTCCTCGACGGCGCAGG	0.552																																					p.R568Q	Ovarian(68;897 1494 3282 17478)	.											.	SRRM1-93	0			c.G1703A						.	G	GLN/ARG	0,4406		0,0,2203	52.0	44.0	47.0		1703	5.7	0.9	1		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM1	NM_005839.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	568/905	24993380	1,13005	2203	4300	6503	SO:0001583	missense	10250	exon13			CTCCTCGACGGCG	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1703G>A	1.37:g.24993380G>A	ENSP00000326261:p.Arg568Gln	509	0		395	149	NM_005839	0	0	18	34	16	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930526	0.73327	0.0	1.16E-4	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.61627	0.09;0.36;0.59	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000047	T	0.51075	0.1653	L	0.50333	1.59	0.80722	D	1	P;P	0.37997	0.614;0.48	B;B	0.26864	0.074;0.034	T	0.55256	-0.8169	10	0.48119	T	0.1	-1.7773	19.3453	0.94361	0.0:0.0:1.0:0.0	.	580;568	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	568;580;577	ENSP00000326261:R568Q;ENSP00000391430:R580Q;ENSP00000363510:R577Q	ENSP00000326261:R568Q	R	+	2	0	SRRM1	24865967	1.000000	0.71417	0.878000	0.34440	0.894000	0.52154	5.959000	0.70339	2.654000	0.90174	0.650000	0.86243	CGA	.		0.552	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
KDF1	126695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	27278436	27278436	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:27278436G>A	ENST00000320567.5	-	2	524	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		146					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCCATCCCGCCGGCTGGGG	0.627																																					p.R146W		.											.	C1orf172-154	0			c.C436T						.						25.0	28.0	27.0					1																	27278436		2203	4300	6503	SO:0001583	missense	126695	exon2			CATCCCGCCGGCT																												ENST00000320567.5:c.436C>T	1.37:g.27278436G>A	ENSP00000319179:p.Arg146Trp	55	0		108	8	NM_152365	0	0	0	0	0	Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787992	0.70337	.	.	ENSG00000175707	ENST00000320567	T	0.27256	1.68	4.83	4.83	0.62350	.	0.274240	0.34802	N	0.003666	T	0.35856	0.0946	L	0.29908	0.895	0.33557	D	0.596851	D	0.89917	1.0	D	0.70016	0.967	T	0.48151	-0.9060	10	0.87932	D	0	.	11.0699	0.47997	0.0:0.0:0.6825:0.3175	.	146	Q8NAX2	CA172_HUMAN	W	146	ENSP00000319179:R146W	ENSP00000319179:R146W	R	-	1	2	C1orf172	27151023	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.081000	0.50120	2.502000	0.84385	0.650000	0.86243	CGG	.		0.627	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1		
SLC9A1	6548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27429001	27429001	+	Silent	SNP	G	G	A	rs144261466		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:27429001G>A	ENST00000263980.3	-	8	2270	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	SLC9A1_ENST00000545949.1_Silent_p.G226G|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	565					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TGGAGCGCTCGCCAGCTATCA	0.577											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G565G		.											.	SLC9A1-91	0			c.C1695T						.	G		0,4406		0,0,2203	99.0	105.0	103.0		1695	-8.0	0.6	1	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A1	NM_003047.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		565/816	27429001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6548	exon8			GCGCTCGCCAGCT	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1695C>T	1.37:g.27429001G>A		58	0	794	63	59	NM_003047	0	0	1	5	4	B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	CCDS295.1																																																																																			G|1.000;A|0.000		0.577	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047	
ZSCAN20	7579	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	33954759	33954759	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:33954759G>A	ENST00000361328.3	+	4	802	c.649G>A	c.(649-651)Gtt>Att	p.V217I	ZSCAN20_ENST00000373413.2_Intron|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGGGGAGCGTTGGAGATTG	0.522																																					p.V217I		.											.	ZSCAN20-93	0			c.G649A						.						128.0	130.0	129.0					1																	33954759		2005	4162	6167	SO:0001583	missense	7579	exon4			GGGAGCGTTGGAG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.649G>A	1.37:g.33954759G>A	ENSP00000355053:p.Val217Ile	173	1		167	82	NM_145238	0	0	0	0	0	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440462	0.25900	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	6.03	-3.07	0.05363	Krueppel-associated box (1);	1.198700	0.05887	N	0.627579	T	0.36248	0.0960	L	0.47716	1.5	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.24977	-1.0145	9	0.22706	T	0.39	2.0E-4	7.0403	0.25017	0.4962:0.1199:0.3839:0.0	.	217;217	P17040-3;P17040	.;ZSC20_HUMAN	I	217;151;151	.	ENSP00000324450:V217I	V	+	1	0	ZSCAN20	33727346	0.000000	0.05858	0.009000	0.14445	0.998000	0.95712	-0.657000	0.05335	-0.386000	0.07821	0.555000	0.69702	GTT	.		0.522	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
DLGAP3	58512	broad.mit.edu	37	1	35370731	35370731	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:35370731delC	ENST00000373347.1	-	3	522	c.254delG	c.(253-255)ggtfs	p.G85fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G85fs|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	85					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGCTGCTACCCCCCCCAAC	0.701																																					p.G85fs		.											.	DLGAP3-71	0			c.254delG						.			57,65,4026		1,0,55,2,61,1955	10.0	11.0	11.0			-4.8	1.0	1		11	88,98,7860		2,0,84,1,96,3840	no	codingComplex	DLGAP3	NM_001080418.1		3,0,139,3,157,5795	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3117,2.9412,2.5258			35370731	145,163,11886	2178	4247	6425	SO:0001589	frameshift_variant	58512	exon1			CTGCTACCCCCCC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.254delG	1.37:g.35370731delC	ENSP00000362444:p.Gly85fs	13	0		15	8	NM_001080418	0	0	0	0	0	Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	ENST00000373347.1	37	CCDS30670.1																																																																																			.		0.701	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
CSF3R	1441	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:36935323delG	ENST00000373106.1	-	11	1951	c.1404delC	c.(1402-1404)cccfs	p.P468fs	CSF3R_ENST00000440588.2_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000361632.4_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000373103.1_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000338937.5_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000373104.1_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000331941.5_Frame_Shift_Del_p.P468fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	468	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCTCGCGCTGGGGGGGCCCA	0.632																																					p.P468fs		.											.	CSF3R-515	0			c.1404delC						.						74.0	78.0	77.0					1																	36935323		2203	4300	6503	SO:0001589	frameshift_variant	1441	exon11			CGCGCTGGGGGGG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1404delC	1.37:g.36935323delG	ENSP00000362198:p.Pro468fs	26	0		56	39	NM_156039	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000373106.1	37	CCDS413.1																																																																																			.		0.632	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39876656	39876656	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:39876656T>C	ENST00000530275.1	+	1	506	c.311T>C	c.(310-312)gTa>gCa	p.V104A	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	104	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGAAGCTGTAGCAACAAGT	0.453											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V240A		.											.	.	0			c.T719C						.						52.0	52.0	52.0					1																	39876656		1909	4136	6045	SO:0001583	missense	643314	exon1			AAGCTGTAGCAAC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.311T>C	1.37:g.39876656T>C	ENSP00000431179:p.Val104Ala	147	0	889	100	77	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.102061	0.00360	.	.	ENSG00000255103	ENST00000530275	T	0.20598	2.06	4.07	1.05	0.20165	.	.	.	.	.	T	0.05227	0.0139	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	9	0.05351	T	0.99	.	4.226	0.10580	0.1522:0.4857:0.0:0.3621	.	104	O94854	K0754_HUMAN	A	104	ENSP00000431179:V104A	ENSP00000431179:V104A	V	+	2	0	RP4-562N20.1	39649243	0.700000	0.27796	0.980000	0.43619	0.725000	0.41563	0.402000	0.20965	0.097000	0.17492	-0.252000	0.11476	GTA	.		0.453	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39880128	39880128	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:39880128C>T	ENST00000530275.1	+	1	3978	c.3783C>T	c.(3781-3783)acC>acT	p.T1261T	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1261										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGCTGCAACCGCTGGATTAA	0.463																																					p.T1397T		.											.	.	0			c.C4191T						.						71.0	72.0	72.0					1																	39880128		1950	4142	6092	SO:0001819	synonymous_variant	643314	exon1			TGCAACCGCTGGA			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3783C>T	1.37:g.39880128C>T		127	0		143	123	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37																																																																																				.		0.463	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
TMEM125	128218	hgsc.bcm.edu	37	1	43738798	43738798	+	Silent	SNP	C	C	T	rs139782659		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:43738798C>T	ENST00000432792.2	+	4	975	c.405C>T	c.(403-405)gcC>gcT	p.A135A	TMEM125_ENST00000439858.1_Silent_p.A135A			Q96AQ2	TM125_HUMAN	transmembrane protein 125	135						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGGGCTGGCCGCCGCCCCTG	0.711																																					p.A135A		.											.	TMEM125-153	0			c.C405T						.	C		3,4391		0,3,2194	15.0	17.0	16.0		405	-3.5	0.1	1	dbSNP_134	16	0,8562		0,0,4281	no	coding-synonymous	TMEM125	NM_144626.2		0,3,6475	TT,TC,CC		0.0,0.0683,0.0232		135/220	43738798	3,12953	2197	4281	6478	SO:0001819	synonymous_variant	128218	exon4			GCTGGCCGCCGCC	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.405C>T	1.37:g.43738798C>T		1	0		31	27	NM_144626	0	0	0	0	0	D3DPX1	Silent	SNP	ENST00000432792.2	37	CCDS480.1																																																																																			C|1.000;T|0.000		0.711	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626	
ARTN	9048	hgsc.bcm.edu	37	1	44402375	44402375	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:44402375G>A	ENST00000372359.5	+	5	1383	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	ARTN_ENST00000438616.3_Missense_Mutation_p.V218I|ARTN_ENST00000414809.3_Missense_Mutation_p.V209I|ARTN_ENST00000498139.2_Missense_Mutation_p.V209I|ARTN_ENST00000372354.3_Missense_Mutation_p.V201I	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	201					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTTCATGGACGTCAACAGCAC	0.721																																					p.V209I		.											.	ARTN-90	0			c.G625A						.						13.0	13.0	13.0					1																	44402375		2182	4273	6455	SO:0001583	missense	9048	exon4			ATGGACGTCAACA	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"""Endogenous ligands"""	727	protein-coding gene	gene with protein product	"""neublastin"", ""neurotrophic factor"""	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.601G>A	1.37:g.44402375G>A	ENSP00000361434:p.Val201Ile	7	0		85	30	NM_001136215	0	0	0	0	0	D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	CCDS501.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076470	0.76415	.	.	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000498139;ENST00000372354;ENST00000438616	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	4.22	4.22	0.49857	Transforming growth factor-beta, C-terminal (3);	0.088348	0.44483	D	0.000458	D	0.83677	0.5306	L	0.43152	1.355	0.42198	D	0.991758	D;P;D	0.67145	0.995;0.939;0.996	P;B;P	0.53809	0.616;0.258;0.735	D	0.83695	0.0179	10	0.35671	T	0.21	-17.2906	16.2041	0.82108	0.0:0.0:1.0:0.0	.	218;209;201	Q5T4W7-2;Q5T4W7-3;Q5T4W7	.;.;ARTN_HUMAN	I	201;209;209;201;218	ENSP00000361434:V201I;ENSP00000387435:V209I;ENSP00000436727:V209I;ENSP00000361429:V201I;ENSP00000391998:V218I	ENSP00000361429:V201I	V	+	1	0	ARTN	44174962	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.152000	0.71812	1.916000	0.55485	0.471000	0.43371	GTC	.		0.721	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000020713.2	NM_057090	
SLC5A9	200010	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	48701436	48701436	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:48701436G>A	ENST00000438567.2	+	10	1229	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	SLC5A9_ENST00000533824.1_Missense_Mutation_p.A414T|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A418T|SLC5A9_ENST00000420136.2_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	393					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GATCATGGCCGCTCTCATGAG	0.582																																					p.A418T		.											.	SLC5A9-93	0			c.G1252A						.						124.0	92.0	103.0					1																	48701436		2203	4300	6503	SO:0001583	missense	200010	exon11			ATGGCCGCTCTCA	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1177G>A	1.37:g.48701436G>A	ENSP00000401730:p.Ala393Thr	313	0		255	15	NM_001135181	0	0	0	0	0	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	36	5.640512	0.96693	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	D	0.97344	0.9959	10	0.87932	D	0	.	18.2819	0.90101	0.0:0.0:1.0:0.0	.	414;393;418	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	414;393;418	ENSP00000431900:A414T;ENSP00000401730:A393T;ENSP00000236495:A418T	ENSP00000236495:A418T	A	+	1	0	SLC5A9	48474023	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.869000	0.99810	2.560000	0.86352	0.655000	0.94253	GCT	.		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
C8B	732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	57415368	57415368	+	Missense_Mutation	SNP	G	G	A	rs150146785	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:57415368G>A	ENST00000371237.4	-	6	790	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	C8B_ENST00000543257.1_Missense_Mutation_p.R190C|C8B_ENST00000535057.1_Missense_Mutation_p.R180C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.R242C(1)|p.R242G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGACATTGCGTTCAAAATCT	0.338													G|||	5	0.000998403	0.003	0.0014	5008	,	,		21122	0.0		0.0	False		,,,				2504	0.0				p.R242C		.											.	C8B-92	2	Substitution - Missense(2)	ovary(1)|kidney(1)	c.C724T						.	G	CYS/ARG	10,4394	16.8+/-37.8	0,10,2192	88.0	87.0	87.0		724	3.2	0.1	1	dbSNP_134	87	0,8598		0,0,4299	yes	missense	C8B	NM_000066.2	180	0,10,6491	AA,AG,GG		0.0,0.2271,0.0769	probably-damaging	242/592	57415368	10,12992	2202	4299	6501	SO:0001583	missense	732	exon6			CATTGCGTTCAAA	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.724C>T	1.37:g.57415368G>A	ENSP00000360281:p.Arg242Cys	98	1		60	51	NM_000066	0	0	0	0	0	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.89	2.967081	0.53507	0.002271	0.0	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29142	1.74;1.75;1.58	5.19	3.19	0.36642	Membrane attack complex component/perforin (MACPF) domain (1);	1.053100	0.07284	N	0.871299	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	0.999997	D;D;D	0.60160	0.987;0.987;0.978	P;P;B	0.46825	0.528;0.528;0.328	T	0.24476	-1.0159	10	0.72032	D	0.01	-0.8703	9.8148	0.40846	0.0801:0.0:0.7048:0.2151	.	190;180;242	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	242;190;180	ENSP00000360281:R242C;ENSP00000442548:R190C;ENSP00000440113:R180C	ENSP00000360281:R242C	R	-	1	0	C8B	57187956	0.009000	0.17119	0.125000	0.21846	0.376000	0.30014	-0.028000	0.12350	1.318000	0.45170	0.591000	0.81541	CGC	G|0.999;A|0.001		0.338	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	62940939	62940939	+	Silent	SNP	G	G	A	rs202231787		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:62940939G>A	ENST00000340370.5	-	46	5969	c.5952C>T	c.(5950-5952)ccC>ccT	p.P1984P	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Silent_p.P2004P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2015	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.P1984P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGGGGTCTGCGGGATCCTGAT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.001				p.P2004P		.											.	DOCK7-92	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.C6012T						.	G		0,4406		0,0,2203	191.0	168.0	176.0		5952	-8.0	0.9	1		176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DOCK7	NM_033407.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1984/2110	62940939	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85440	exon46			GTCTGCGGGATCC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5952C>T	1.37:g.62940939G>A		139	0		108	10	NM_001271999	0	0	3	4	1	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017430	0.07681	0.0	2.33E-4	ENSG00000116641	ENST00000454575	.	.	.	5.73	-7.99	0.01131	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50224	-0.8853	4	.	.	.	.	6.132	0.20211	0.2519:0.0534:0.4767:0.218	.	.	.	.	C	1178	.	.	R	-	1	0	DOCK7	62713527	0.001000	0.12720	0.901000	0.35422	0.484000	0.33280	-1.683000	0.01934	-1.205000	0.02645	-2.337000	0.00247	CGC	G|0.999;A|0.001		0.438	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
FNDC7	163479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	109273459	109273459	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:109273459C>T	ENST00000370017.3	+	9	2065	c.1788C>T	c.(1786-1788)tgC>tgT	p.C596C	FNDC7_ENST00000271311.2_Silent_p.C597C	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	596	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCCTAGGATGCATCACATGTG	0.458																																					p.C596C		.											.	FNDC7-92	0			c.C1788T						.						161.0	129.0	140.0					1																	109273459		2203	4300	6503	SO:0001819	synonymous_variant	163479	exon9			AGGATGCATCACA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1788C>T	1.37:g.109273459C>T		178	0		134	8	NM_001144937	0	0	0	0	0	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192289	0.21954	.	.	ENSG00000143107	ENST00000445274	.	.	.	6.05	1.11	0.20524	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-18.7653	10.3094	0.43699	0.0:0.5519:0.0:0.4481	.	.	.	.	Y	372	.	.	H	+	1	0	FNDC7	109074982	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	1.157000	0.31724	0.166000	0.19597	0.655000	0.94253	CAT	.		0.458	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	
MYBPHL	343263	ucsc.edu;bcgsc.ca	37	1	109839774	109839774	+	Silent	SNP	G	G	A	rs373917531		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:109839774G>A	ENST00000357155.1	-	4	517	c.468C>T	c.(466-468)gaC>gaT	p.D156D	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	156	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGCCCCAAACGTCCACCAGCT	0.552																																					p.D156D		.											.	MYBPHL-92	0			c.C468T						.	G		2,4404	4.2+/-10.8	0,2,2201	135.0	137.0	137.0		468	-4.0	0.8	1		137	0,8600		0,0,4300	no	coding-synonymous	MYBPHL	NM_001010985.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		156/355	109839774	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	343263	exon4			CCAAACGTCCACC	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.468C>T	1.37:g.109839774G>A		196	3		163	150	NM_001010985	0	0	0	0	0	B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	CCDS30793.1																																																																																			.		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
CSF1	1435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110467421	110467421	+	Silent	SNP	G	G	A	rs376460825		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:110467421G>A	ENST00000329608.6	+	7	1984	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	CSF1_ENST00000420111.2_Silent_p.A233A|CSF1_ENST00000344188.5_Silent_p.A415A|CSF1_ENST00000369801.1_Silent_p.A415A|CSF1_ENST00000369802.3_Silent_p.A531A	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	531			A -> V (in dbSNP:rs2229167).		branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCAGAGAGCGGATTCTCCCT	0.627																																					p.A531A		.											.	CSF1-91	0			c.G1593A						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	33.0	31.0	32.0		1593,1245,699,1593	1.3	0.0	1		32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	531/555,415/439,233/257,531/555	110467421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1435	exon7			GAGAGCGGATTCT	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1593G>A	1.37:g.110467421G>A		248	0		163	67	NM_000757	0	0	0	0	0	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	CCDS816.1																																																																																			.		0.627	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757	
MOV10	4343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	113237220	113237220	+	Missense_Mutation	SNP	G	G	A	rs112768939	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:113237220G>A	ENST00000413052.2	+	9	1831	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	MOV10_ENST00000369644.1_Missense_Mutation_p.V425I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.V481I|MOV10_ENST00000369645.1_Missense_Mutation_p.V481I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	481					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACCTCGGGACGTCCCGCTGCT	0.647													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16002	0.001		0.0	False		,,,				2504	0.0				p.V481I		.											.	MOV10-95	0			c.G1441A						.						28.0	26.0	27.0					1																	113237220		2203	4300	6503	SO:0001583	missense	4343	exon9			CGGGACGTCCCGC	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1441G>A	1.37:g.113237220G>A	ENSP00000399797:p.Val481Ile	55	0		107	94	NM_020963	0	0	0	3	3	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.176	-0.639666	0.03557	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.09	1.04	0.20106	.	0.813456	0.11338	N	0.574313	T	0.61602	0.2360	N	0.04508	-0.205	0.18873	N	0.999984	B;B;B	0.19200	0.0;0.034;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.53251	-0.8465	10	0.29301	T	0.29	-4.8165	10.3404	0.43875	0.3809:0.0:0.6191:0.0	.	425;481;481	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	I	481;481;481;425;481;419	ENSP00000399797:V481I;ENSP00000358659:V481I;ENSP00000358658:V425I;ENSP00000350028:V481I	ENSP00000285733:V481I	V	+	1	0	MOV10	113038743	0.000000	0.05858	0.032000	0.17829	0.012000	0.07955	-0.084000	0.11268	-0.032000	0.13758	-2.069000	0.00389	GTC	A|0.000;C|0.000;G|0.999		0.647	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
SYCP1	6847	hgsc.bcm.edu;broad.mit.edu	37	1	115537601	115537601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:115537601delA	ENST00000369522.3	+	32	3132	c.2892delA	c.(2890-2892)agafs	p.R964fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.R964fs|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATGGATAGAAAAAAAAAAC	0.353																																					p.R964fs		.											.	SYCP1-91	0			c.2892delA						.			97,41,4116		2,3,90,0,38,1994	42.0	47.0	45.0			5.1	1.0	1		47	108,62,8066		1,0,106,1,60,3950	no	codingComplex	SYCP1	NM_003176.2		3,3,196,1,98,5944	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0641,3.244,2.466			115537601	205,103,12182	2200	4297	6497	SO:0001589	frameshift_variant	6847	exon32			GGATAGAAAAAAA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2892delA	1.37:g.115537601delA	ENSP00000358535:p.Arg964fs	70	0		63	11	NM_003176	0	0	0	0	0	O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	CCDS879.1																																																																																			.		0.353	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
GDAP2	54834	hgsc.bcm.edu;bcgsc.ca	37	1	118439565	118439568	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAAA	GAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:118439565_118439568delGAAA	ENST00000369443.5	-	8	1089_1092	c.840_843delTTTC	c.(838-843)tctttcfs	p.SF280fs	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Frame_Shift_Del_p.SF280fs	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	280					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GAGAGCCAATGAAAGAGAGATCAA	0.407																																					p.280_281del		.											.	GDAP2-92	0			c.840_843del						.																																			SO:0001589	frameshift_variant	54834	exon8			GCCAATGAAAGAG	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.840_843delTTTC	1.37:g.118439565_118439568delGAAA	ENSP00000358451:p.Ser280fs	97	1		53	46	NM_017686	0	0	0	0	0	Q96DZ0	Frame_Shift_Del	DEL	ENST00000369443.5	37	CCDS897.1																																																																																			.		0.407	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																					p.G755fs		.											.	ADAMTSL4-92	0			c.2263delG						.						41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507	exon14			GAATTTGGGGGGG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs	7	0		49	26	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	CCDS955.1																																																																																			.		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	150531111	150531111	+	Missense_Mutation	SNP	G	G	A	rs559596593		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:150531111G>A	ENST00000369038.2	+	13	2746	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.D849N|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.D872N|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.D849N|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	849	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTTCCACAGCGACTGGAGCTC	0.612																																					p.D849N		.											.	ADAMTSL4-92	0			c.G2545A						.						59.0	61.0	60.0					1																	150531111		2203	4299	6502	SO:0001583	missense	54507	exon15			CACAGCGACTGGA	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2545G>A	1.37:g.150531111G>A	ENSP00000358034:p.Asp849Asn	62	0		62	7	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495818	0.85069	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.61627	0.09;0.12;0.12;0.12	5.46	5.46	0.80206	.	.	.	.	.	T	0.53530	0.1802	L	0.41356	1.27	0.43114	D	0.994827	D;D;D;D	0.69078	0.972;0.967;0.972;0.997	P;P;P;P	0.54590	0.544;0.631;0.544;0.756	T	0.53486	-0.8432	9	0.44086	T	0.13	.	16.7863	0.85575	0.0:0.0:1.0:0.0	.	810;872;849;849	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	N	849;849;387;872;849	ENSP00000358037:D849N;ENSP00000271643:D849N;ENSP00000358035:D872N;ENSP00000358034:D849N	ENSP00000271643:D849N	D	+	1	0	ADAMTSL4	148797735	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	4.253000	0.58791	2.562000	0.86427	0.462000	0.41574	GAC	.		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
HRNR	388697	bcgsc.ca	37	1	152185882	152185882	+	Silent	SNP	G	G	A	rs41266126	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:152185882G>A	ENST00000368801.2	-	3	8298	c.8223C>T	c.(8221-8223)ggC>ggT	p.G2741G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2741					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G2741G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGACTGGCCTGTGCTAG	0.577																																					p.G2741G		.											.	HRNR-93	1	Substitution - coding silent(1)	prostate(1)	c.C8223T						.						28.0	16.0	20.0					1																	152185882		2167	4065	6232	SO:0001819	synonymous_variant	388697	exon3			AGACTGGCCTGTG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8223C>T	1.37:g.152185882G>A		114	1		23	6	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			A|1.000;|0.000		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
HRNR	388697	bcgsc.ca	37	1	152187474	152187474	+	Missense_Mutation	SNP	G	G	A	rs143987598	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:152187474G>A	ENST00000368801.2	-	3	6706	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2211					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGGCCACGGCTGGAAGAA	0.597																																					p.R2211C		.											.	HRNR-93	0			c.C6631T						.	G	CYS/ARG	18,2920		0,18,1451	19.0	29.0	26.0		6631	-5.9	0.0	1	dbSNP_134	26	0,6180		0,0,3090	no	missense	HRNR	NM_001009931.1	180	0,18,4541	AA,AG,GG		0.0,0.6127,0.1974	benign	2211/2851	152187474	18,9100	1469	3090	4559	SO:0001583	missense	388697	exon3			GGCCACGGCTGGA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6631C>T	1.37:g.152187474G>A	ENSP00000357791:p.Arg2211Cys	388	1		533	61	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.426	0.263675	0.10294	0.006127	0.0	ENSG00000197915	ENST00000368801	T	0.18016	2.24	2.93	-5.86	0.02304	.	.	.	.	.	T	0.02533	0.0077	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.41342	-0.9514	9	0.49607	T	0.09	.	1.8279	0.03125	0.3734:0.1354:0.3567:0.1344	.	2211	Q86YZ3	HORN_HUMAN	C	2211	ENSP00000357791:R2211C	ENSP00000357791:R2211C	R	-	1	0	HRNR	150454098	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.564000	0.02152	-1.493000	0.01835	-0.358000	0.07595	CGT	G|0.999;A|0.001		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
TPM3	7170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	154141804	154141804	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:154141804G>A	ENST00000368530.2	-	9	1023	c.831C>T	c.(829-831)caC>caT	p.H277H	TPM3_ENST00000469717.1_Intron|TPM3_ENST00000328159.4_Silent_p.H240H|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|RN7SL431P_ENST00000582918.1_RNA|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	277					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CATTGAGGGCGTGGTCCAGCT	0.532			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																p.H277H		.		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	.	TPM3-416	0			c.C831T						.						191.0	179.0	183.0					1																	154141804		2203	4300	6503	SO:0001819	synonymous_variant	7170	exon9			GAGGGCGTGGTCC	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.831C>T	1.37:g.154141804G>A		253	0		161	77	NM_152263	0	0	0	0	0	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	CCDS41403.1																																																																																			.		0.532	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263	
ARHGEF11	9826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156908212	156908212	+	Missense_Mutation	SNP	G	G	A	rs141649554		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:156908212G>A	ENST00000361409.2	-	37	4812	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.T1397M|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T773M|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1357					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTATTACCCGTAGCCTTTGT	0.587																																					p.T1397M		.											.	ARHGEF11-233	0			c.C4190T						.	G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	112.0	97.0	102.0		4070,4190	5.3	1.0	1	dbSNP_134	102	0,8600		0,0,4300	yes	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	1357/1523,1397/1563	156908212	2,13004	2203	4300	6503	SO:0001583	missense	9826	exon38			TTACCCGTAGCCT	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4070C>T	1.37:g.156908212G>A	ENSP00000354644:p.Thr1357Met	166	0		125	110	NM_198236	0	0	0	0	0	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991631	0.54041	4.54E-4	0.0	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.66280	-0.2;-0.2;-0.11	5.35	5.35	0.76521	.	0.546304	0.16818	N	0.198297	T	0.39462	0.1079	N	0.19112	0.55	0.32873	D	0.509563	D;P;P	0.63046	0.992;0.899;0.939	P;B;P	0.47015	0.534;0.333;0.534	T	0.48234	-0.9053	10	0.59425	D	0.04	-26.3255	11.6418	0.51237	0.0:0.0:0.8226:0.1774	.	773;1357;1397	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1397;1357;773	ENSP00000357177:T1397M;ENSP00000354644:T1357M;ENSP00000313470:T773M	ENSP00000313470:T773M	T	-	2	0	ARHGEF11	155174836	0.997000	0.39634	0.999000	0.59377	0.953000	0.61014	3.331000	0.52075	2.504000	0.84457	0.655000	0.94253	ACG	G|1.000;A|0.000		0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
ATP1A2	477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160100011	160100011	+	Silent	SNP	C	C	T	rs371520433		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:160100011C>T	ENST00000361216.3	+	12	1670	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	ATP1A2_ENST00000392233.3_Silent_p.L527L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	527					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)			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)			AGATCCCGCTCGACAAGGAGA	0.607																																					p.L527L		.											.	ATP1A2-518	0			c.C1581T						.						82.0	81.0	81.0					1																	160100011		2203	4300	6503	SO:0001819	synonymous_variant	477	exon12			CCCGCTCGACAAG	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.1581C>T	1.37:g.160100011C>T		77	0		66	61	NM_000702	0	0	0	0	0	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	8.255	0.809971	0.16537	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.61	-4.0	0.04057	.	.	.	.	.	T	0.29556	0.0737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37407	-0.9707	4	.	.	.	.	4.9546	0.14033	0.0774:0.3287:0.4022:0.1917	.	.	.	.	L	238	.	.	S	+	2	0	ATP1A2	158366635	1.000000	0.71417	0.121000	0.21740	0.859000	0.49053	0.823000	0.27366	-1.031000	0.03308	0.511000	0.50034	TCG	.		0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
USP21	27005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161130593	161130593	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:161130593C>T	ENST00000289865.8	+	2	384	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	USP21_ENST00000368001.1_Missense_Mutation_p.R55W|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R55W	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	55					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCTGCCTCCCCGGCCAGGTCT	0.647																																					p.R55W		.											.	USP21-660	0			c.C163T						.						53.0	55.0	54.0					1																	161130593		2203	4300	6503	SO:0001583	missense	27005	exon3			CCTCCCCGGCCAG	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.163C>T	1.37:g.161130593C>T	ENSP00000289865:p.Arg55Trp	58	0		63	57	NM_001014443	0	0	0	6	6	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507052	0.64410	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.18502	2.37;2.37;2.21	5.14	3.19	0.36642	.	1.787690	0.03110	N	0.162393	T	0.17365	0.0417	N	0.19112	0.55	0.33739	D	0.619256	D	0.89917	1.0	D	0.75020	0.985	T	0.06570	-1.0819	10	0.87932	D	0	.	12.0943	0.53747	0.4871:0.5128:0.0:0.0	.	55	Q9UK80	UBP21_HUMAN	W	55	ENSP00000356981:R55W;ENSP00000289865:R55W;ENSP00000356980:R55W	ENSP00000289865:R55W	R	+	1	2	USP21	159397217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.333000	0.33816	0.673000	0.31224	0.561000	0.74099	CGG	.		0.647	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
DUSP27	92235	bcgsc.ca	37	1	167096395	167096395	+	Missense_Mutation	SNP	C	C	T	rs76205550	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:167096395C>T	ENST00000361200.2	+	6	2193	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	DUSP27_ENST00000443333.1_Missense_Mutation_p.T676M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T676M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGGACACGACGTCAGTACTG	0.632													C|||	73	0.0145767	0.0552	0.0	5008	,	,		17886	0.0		0.0	False		,,,				2504	0.0				p.T676M		.											.	DUSP27-71	0			c.C2027T						.	C	MET/THR	191,4215	121.7+/-159.2	3,185,2015	48.0	49.0	48.0		2027	-3.2	0.0	1	dbSNP_131	48	3,8597	1.2+/-3.3	0,3,4297	yes	missense	DUSP27	NM_001080426.1	81	3,188,6312	TT,TC,CC		0.0349,4.335,1.4916	benign	676/1159	167096395	194,12812	2203	4300	6503	SO:0001583	missense	92235	exon5			ACACGACGTCAGT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2027C>T	1.37:g.167096395C>T	ENSP00000354483:p.Thr676Met	189	1		238	8	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	C	0.218	-1.030589	0.02045	0.04335	3.49E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02974	4.09;4.09;4.09	4.58	-3.17	0.05202	.	1.130470	0.06748	N	0.779599	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.38643	T	0.18	-2.0627	15.3088	0.74014	0.0944:0.4151:0.4904:0.0	.	676	Q5VZP5	DUS27_HUMAN	M	676	ENSP00000354483:T676M;ENSP00000271385:T676M;ENSP00000404874:T676M	ENSP00000271385:T676M	T	+	2	0	DUSP27	165363019	0.005000	0.15991	0.000000	0.03702	0.037000	0.13140	0.716000	0.25836	-0.408000	0.07565	0.643000	0.83706	ACG	C|0.984;T|0.016		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
BRINP2	57795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	177245455	177245455	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:177245455C>T	ENST00000361539.4	+	6	1209	c.897C>T	c.(895-897)tgC>tgT	p.C299C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	299					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGTGCAAGTGCAGCCCCACCT	0.582																																					p.C299C		.											.	FAM5B-28	0			c.C897T						.						82.0	63.0	70.0					1																	177245455		2203	4300	6503	SO:0001819	synonymous_variant	57795	exon6			CAAGTGCAGCCCC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.897C>T	1.37:g.177245455C>T		427	0		396	175	NM_021165	0	0	0	0	0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																			.		0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
KIAA1614	57710	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	180914481	180914481	+	Silent	SNP	C	C	T	rs369477801		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:180914481C>T	ENST00000367588.4	+	9	3385	c.3330C>T	c.(3328-3330)gaC>gaT	p.D1110D	KIAA1614_ENST00000367587.1_Silent_p.D731D|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1110										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTGTGGAGGACGTGGGTGCTC	0.672																																					p.D1110D		.											.	KIAA1614-26	0			c.C3330T						.	C		0,4132		0,0,2066	47.0	52.0	50.0		3330	-8.7	0.7	1		50	1,8355		0,1,4177	no	coding-synonymous	KIAA1614	NM_020950.1		0,1,6243	TT,TC,CC		0.012,0.0,0.0080		1110/1191	180914481	1,12487	2066	4178	6244	SO:0001819	synonymous_variant	57710	exon9			GGAGGACGTGGGT	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3330C>T	1.37:g.180914481C>T		8	0		48	43	NM_020950	0	0	0	0	0	Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	CCDS41442.1																																																																																			.		0.672	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
ATP2B4	493	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	203682343	203682343	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:203682343G>A	ENST00000357681.5	+	14	3385	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	ATP2B4_ENST00000391954.2_Silent_p.A754A|ATP2B4_ENST00000341360.2_Silent_p.A754A|ATP2B4_ENST00000367218.3_Silent_p.A754A|ATP2B4_ENST00000367219.3_Silent_p.A742A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	754					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGTCCTGGCGCGATCTTCTC	0.542																																					p.A754A		.											.	ATP2B4-517	0			c.G2262A						.						189.0	175.0	180.0					1																	203682343		2203	4300	6503	SO:0001819	synonymous_variant	493	exon14			CCTGGCGCGATCT	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2262G>A	1.37:g.203682343G>A		200	1		119	41	NM_001001396	0	0	5	5	0	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	CCDS1440.1																																																																																			.		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
SRGAP2	23380	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	206566076	206566076	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:206566076G>A	ENST00000414007.1	+	2	97	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	173	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTACAATGCCGACAGCATCAG	0.532																																					p.D20N		.											.	.	0			c.G58A						.						39.0	36.0	37.0					1																	206566076		2052	4199	6251	SO:0001583	missense	100996712	exon2			AATGCCGACAGCA	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.97G>A	1.37:g.206566076G>A	ENSP00000390898:p.Asp33Asn	1069	0		900	131	NM_001271887	0	0	9	10	1		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.357116|5.357116	0.95854|0.95854	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007|ENST00000295713	T|.	0.16457|.	2.34|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	.|.	.|.	.|.	0.31099|.	N|.	0.710612|.	D;B;P|.	0.63046|.	0.992;0.382;0.622|.	B;B;B|.	0.43155|.	0.41;0.261;0.189|.	T|T	0.74914|0.74914	-0.3502|-0.3502	8|3	0.87932|.	D|.	0|.	.|.	19.085|19.085	0.93200|0.93200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;173;173|.	B4DDU0;O75044;B7Z3G4|.	.;FNBP2_HUMAN;.|.	N|Q	87;33|86	ENSP00000390898:D33N|.	ENSP00000390898:D33N|.	D|R	+|+	1|2	0|0	SRGAP2|SRGAP2	204632699|204632699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.860000|9.860000	0.99555|0.99555	2.483000|2.483000	0.83821|0.83821	0.455000|0.455000	0.32223|0.32223	GAC|CGA	.		0.532	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326	
RASSF5	83593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A	rs570039354		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:206757996G>A	ENST00000355294.4	+	4	1025	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.R170Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20853	0.0		0.0	False		,,,				2504	0.001				p.R323Q	GBM(162;656 1984 11916 22872 31529)	.											.	RASSF5-660	0			c.G968A						.						100.0	92.0	95.0					1																	206757996		2203	4300	6503	SO:0001583	missense	83593	exon4			TTAAGCGGATACA	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.968G>A	1.37:g.206757996G>A	ENSP00000347443:p.Arg323Gln	207	0		142	124	NM_182663	0	0	0	2	2	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881865	0.51908	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.36	2.49	0.30216	Ras-association (3);	0.381500	0.29653	N	0.011550	T	0.27098	0.0664	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.21821	0.061;0.0;0.005;0.014;0.017	B;B;B;B;B	0.23419	0.037;0.001;0.001;0.046;0.009	T	0.08330	-1.0727	10	0.52906	T	0.07	-3.5408	6.0411	0.19734	0.446:0.0:0.554:0.0	.	321;170;323;323;325	E9PDW5;Q8WWW0-2;Q8WWW0-3;Q8WWW0;Q59GG4	.;.;.;RASF5_HUMAN;.	Q	323;323;323;323;170	ENSP00000347443:R323Q;ENSP00000356084:R323Q;ENSP00000342620:R323Q;ENSP00000306091:R170Q	ENSP00000306091:R170Q	R	+	2	0	RASSF5	204824619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.636000	0.37144	0.649000	0.30751	0.561000	0.74099	CGG	.		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
CR2	1380	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:207642044delC	ENST00000367058.3	+	3	807	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398																																					p.V206fs		.											.	CR2-232	1	Deletion - Frameshift(1)	breast(1)	c.618delC						.						243.0	225.0	231.0					1																	207642044		2203	4300	6503	SO:0001589	frameshift_variant	1380	exon3			TGCTGTCCCCCCC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.618delC	1.37:g.207642044delC	ENSP00000356025:p.Val206fs	98	0		61	57	NM_001006658	0	0	0	0	0	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	CCDS1478.1																																																																																			.		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
PLXNA2	5362	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	208390432	208390432	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:208390432C>T	ENST00000367033.3	-	2	1593	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	279	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGCACGATGCGTGAGGTGTA	0.617																																					p.R279H		.											.	PLXNA2-92	0			c.G836A						.						102.0	99.0	100.0					1																	208390432		2203	4300	6503	SO:0001583	missense	5362	exon2			ACGATGCGTGAGG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.836G>A	1.37:g.208390432C>T	ENSP00000356000:p.Arg279His	107	1		92	81	NM_025179	0	0	0	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307792	0.81247	.	.	ENSG00000076356	ENST00000367033	T	0.32272	1.46	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.961	T	0.56426	-0.7981	10	0.72032	D	0.01	.	13.3465	0.60575	0.0:0.9282:0.0:0.0718	.	333;279	O75051-2;O75051	.;PLXA2_HUMAN	H	279	ENSP00000356000:R279H	ENSP00000356000:R279H	R	-	2	0	PLXNA2	206457055	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	4.729000	0.62008	2.765000	0.95021	0.655000	0.94253	CGC	.		0.617	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
CAPN2	824	broad.mit.edu;bcgsc.ca	37	1	223947018	223947018	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:223947018C>T	ENST00000295006.5	+	12	1673	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.T377M	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	455	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTCTTCCTGACGAATCGCGCC	0.547																																					p.T455M		.											.	CAPN2-523	0			c.C1364T						.						77.0	76.0	76.0					1																	223947018		2203	4300	6503	SO:0001583	missense	824	exon12			TCCTGACGAATCG	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1364C>T	1.37:g.223947018C>T	ENSP00000295006:p.Thr455Met	261	0		188	7	NM_001748	0	0	11	11	0	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518672	0.44763	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.87809	-2.3;-2.3	5.67	4.74	0.60224	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.288293	0.37437	N	0.002091	D	0.92374	0.7580	M	0.77486	2.375	0.39132	D	0.961878	D;D;D	0.71674	0.99;0.993;0.998	P;P;D	0.66497	0.841;0.903;0.944	D	0.92473	0.5987	10	0.36615	T	0.2	.	14.9241	0.70862	0.0:0.7284:0.2716:0.0	.	377;38;455	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	M	377;455;484	ENSP00000413158:T377M;ENSP00000295006:T455M	ENSP00000295006:T455M	T	+	2	0	CAPN2	222013641	0.988000	0.35896	0.870000	0.34147	0.541000	0.35023	2.346000	0.44027	1.368000	0.46115	0.655000	0.94253	ACG	.		0.547	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
RYR2	6262	broad.mit.edu;bcgsc.ca	37	1	237791320	237791320	+	Missense_Mutation	SNP	G	G	A	rs397516547		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:237791320G>A	ENST00000366574.2	+	41	6697	c.6380G>A	c.(6379-6381)cGg>cAg	p.R2127Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R2125Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2111Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R2125L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCAGATTCGGTCCCTGCTG	0.488																																					p.R2127Q		.											.	RYR2-158	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G6380A						.						106.0	114.0	111.0					1																	237791320		1999	4172	6171	SO:0001583	missense	6262	exon41			AGATTCGGTCCCT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6380G>A	1.37:g.237791320G>A	ENSP00000355533:p.Arg2127Gln	234	0		193	7	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363080	0.82353	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95307	-3.67;-3.67;-3.67	5.53	5.53	0.82687	Intracellular calcium-release channel (1);	0.178206	0.36234	N	0.002711	D	0.97318	0.9123	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97540	1.0085	10	0.87932	D	0	-11.6254	19.8167	0.96571	0.0:0.0:1.0:0.0	.	2127	Q92736	RYR2_HUMAN	Q	2127;2125;2111	ENSP00000355533:R2127Q;ENSP00000353174:R2125Q;ENSP00000443798:R2111Q	ENSP00000353174:R2125Q	R	+	2	0	RYR2	235857943	1.000000	0.71417	0.291000	0.24904	0.262000	0.26303	9.813000	0.99286	2.762000	0.94881	0.591000	0.81541	CGG	.		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	237811912	237811912	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:237811912C>T	ENST00000366574.2	+	49	7828	c.7511C>T	c.(7510-7512)aCg>aTg	p.T2504M	RYR2_ENST00000360064.6_Splice_Site_p.T2502M|RYR2_ENST00000542537.1_Splice_Site_p.T2488M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2504	4 X approximate repeats.		T -> M (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTTTAGATACGGTGAGATTG	0.438																																					p.T2504M		.											.	RYR2-158	0			c.C7511T	GRCh37	CM010424	RYR2	M		.						62.0	55.0	57.0					1																	237811912		1901	4117	6018	SO:0001630	splice_region_variant	6262	exon49			TAGATACGGTGAG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7512+1C>T	1.37:g.237811912C>T		92	0		68	4	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378639	0.82682	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96554	-4.05;-4.05;-4.05	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000008	D	0.98018	0.9347	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98786	1.0734	10	0.72032	D	0.01	-14.7721	18.5983	0.91236	0.0:1.0:0.0:0.0	.	2504	Q92736	RYR2_HUMAN	M	2504;2502;2488	ENSP00000355533:T2504M;ENSP00000353174:T2502M;ENSP00000443798:T2488M	ENSP00000353174:T2502M	T	+	2	0	RYR2	235878535	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	7.583000	0.82559	2.563000	0.86464	0.655000	0.94253	ACG	.		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation
AKR1C3	8644	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	5139659	5139659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:5139659C>T	ENST00000380554.3	+	3	938	c.286C>T	c.(286-288)Cga>Tga	p.R96*	AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R73*|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000439082.2_5'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	96					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	AGAGTTGGTCCGACCAGCCTT	0.403																																					p.R96X		.											.	AKR1C3-515	0			c.C286T						.						139.0	133.0	135.0					10																	5139659		2203	4300	6503	SO:0001587	stop_gained	8644	exon3			TTGGTCCGACCAG	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.286C>T	10.37:g.5139659C>T	ENSP00000369927:p.Arg96*	131	0		149	9	NM_001253908	0	0	58	58	0	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Nonsense_Mutation	SNP	ENST00000380554.3	37	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	C	38	6.956721	0.97964	.	.	ENSG00000196139	ENST00000380554	.	.	.	1.79	0.743	0.18347	.	0.384738	0.21043	N	0.081124	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8022	0.23758	0.2933:0.7067:0.0:0.0	.	.	.	.	X	96	.	ENSP00000369927:R96X	R	+	1	2	AKR1C3	5129659	0.000000	0.05858	0.031000	0.17742	0.782000	0.44232	0.643000	0.24750	0.237000	0.21200	0.484000	0.47621	CGA	.		0.403	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739	
CALML3	810	bcgsc.ca	37	10	5567320	5567320	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:5567320G>A	ENST00000315238.1	+	1	397	c.272G>A	c.(271-273)cGc>cAc	p.R91H	CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	91	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						GAGGCCTTCCGCGTGTTCGAC	0.652																																					p.R91H	Colon(173;2070 2647 27580 52203)	.											.	CALML3-90	0			c.G272A						.						111.0	72.0	85.0					10																	5567320		2203	4300	6503	SO:0001583	missense	810	exon1			CCTTCCGCGTGTT	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.272G>A	10.37:g.5567320G>A	ENSP00000315299:p.Arg91His	35	2		248	171	NM_005185	0	0	0	0	0	B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220174	0.58560	.	.	ENSG00000178363	ENST00000315238	D	0.86164	-2.08	5.1	4.2	0.49525	EF-hand-like domain (1);	0.132073	0.35207	N	0.003380	D	0.85729	0.5764	M	0.85462	2.755	0.53688	D	0.999975	P	0.41624	0.757	B	0.31337	0.128	D	0.86348	0.1709	10	0.66056	D	0.02	-25.2266	12.1425	0.54007	0.0838:0.0:0.9162:0.0	.	91	P27482	CALL3_HUMAN	H	91	ENSP00000315299:R91H	ENSP00000315299:R91H	R	+	2	0	CALML3	5557320	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	6.721000	0.74728	1.153000	0.42468	0.462000	0.41574	CGC	.		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185	
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7768994	7768994	+	Nonsense_Mutation	SNP	C	C	T	rs545967088		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:7768994C>T	ENST00000358415.4	+	10	1232	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.R345*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	356	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAACATTCGAACTTGGAG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		21216	0.0		0.0	False		,,,				2504	0.001				p.R356X		.											.	ITIH2-93	0			c.C1066T						.						106.0	103.0	104.0					10																	7768994		2203	4300	6503	SO:0001587	stop_gained	3698	exon10			AACATTCGAACTT	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1066C>T	10.37:g.7768994C>T	ENSP00000351190:p.Arg356*	108	0		88	53	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Nonsense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407126	0.62399	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	.	.	.	5.09	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.864	15.3286	0.74186	0.3726:0.6274:0.0:0.0	.	.	.	.	X	356;345	.	ENSP00000351190:R356X	R	+	1	2	ITIH2	7809000	1.000000	0.71417	0.514000	0.27761	0.062000	0.15995	2.276000	0.43408	0.512000	0.28257	-0.332000	0.08345	CGA	.		0.398	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	16994285	16994285	+	Silent	SNP	C	C	T	rs577984421		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:16994285C>T	ENST00000377833.4	-	33	5024	c.4959G>A	c.(4957-4959)gcG>gcA	p.A1653A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1653	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGAGGTTGCGCTTGAATGA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18641	0.0		0.0	False		,,,				2504	0.0				p.A1653A		.											.	CUBN-166	0			c.G4959A						.						212.0	195.0	201.0					10																	16994285		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon33			AGGTTGCGCTTGA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4959G>A	10.37:g.16994285C>T		188	0		189	62	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			.		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
PTPLA	9200	hgsc.bcm.edu	37	10	17659149	17659149	+	Missense_Mutation	SNP	C	C	G	rs7895850	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:17659149C>G	ENST00000361271.3	-	1	227	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PTPLA_ENST00000326961.6_Missense_Mutation_p.E64Q	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	64			E -> K (in dbSNP:rs7895850). {ECO:0000269|PubMed:10644438, ECO:0000269|PubMed:11054553, ECO:0000269|PubMed:15489334}.|E -> Q (in dbSNP:rs7895850). {ECO:0000269|PubMed:11054553}.		fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGCCTCCGCTCGCCGGGAGCC	0.766													T|||	543	0.108427	0.0401	0.121	5008	,	,		6575	0.2321		0.1103	False		,,,				2504	0.0624				p.E64Q		.											.	PTPLA-226	0			c.G190C						.	T	LYS/GLN/GLU	2648,64,0		1292,64,0,0,0,0	2.0	4.0	4.0		190	2.0	0.1	10	dbSNP_116	4	4685,237,0		2230,225,0,6,0,0	no	missense	PTPLA	NM_014241.3	29,56	3522,289,0,6,0,0	TT,TG,TC,GG,GC,CC		4.8151,2.3599,3.9429	benign	64/289	17659149	7333,301,0	1356	2461	3817	SO:0001583	missense	9200	exon1			TCCGCTCGCCGGG	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.190G>C	10.37:g.17659149C>G	ENSP00000355308:p.Glu64Gln	0	0		8	8	NM_014241	0	0	0	0	0	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	T	6.487	0.458102	0.12342	0.023599	0.0481510000000001	ENSG00000165996	ENST00000361271;ENST00000326961	T;T	0.19105	2.75;2.17	3.35	2.04	0.26737	.	0.660756	0.13666	N	0.371221	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.23854	0.092;0.009;0.007	B;B;B	0.12837	0.008;0.001;0.002	T	0.33137	-0.9880	10	0.24483	T	0.36	-20.0823	3.214	0.06692	0.0:0.1393:0.2442:0.6165	.	64;64;64	A6NP58;B0YJ81-2;B0YJ81	.;.;HACD1_HUMAN	Q	64	ENSP00000355308:E64Q;ENSP00000322923:E64Q	ENSP00000322923:E64Q	E	-	1	0	PTPLA	17699155	1.000000	0.71417	0.050000	0.19076	0.003000	0.03518	1.138000	0.31491	0.439000	0.26476	-0.381000	0.06696	GAG	C|0.007;G|0.002;T|0.991		0.766	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	
GPR158	57512	hgsc.bcm.edu	37	10	25465062	25465062	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:25465062G>A	ENST00000376351.3	+	1	1072	c.713G>A	c.(712-714)gGc>gAc	p.G238D	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	238					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACCGCCGCGGCCCCAATCAG	0.701																																					p.G238D		.											.	GPR158-141	0			c.G713A						.						7.0	9.0	9.0					10																	25465062		2119	4170	6289	SO:0001583	missense	57512	exon1			GCCGCGGCCCCAA	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.713G>A	10.37:g.25465062G>A	ENSP00000365529:p.Gly238Asp	1	0		26	19	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724539	0.48728	.	.	ENSG00000151025	ENST00000376351	T	0.60920	0.15	5.09	4.16	0.48862	.	0.304166	0.27415	N	0.019479	T	0.48978	0.1530	L	0.36672	1.1	0.36578	D	0.873362	B	0.24823	0.112	B	0.22880	0.042	T	0.57412	-0.7816	10	0.66056	D	0.02	.	14.6262	0.68624	0.0:0.1463:0.8537:0.0	.	238	Q5T848	GP158_HUMAN	D	238	ENSP00000365529:G238D	ENSP00000365529:G238D	G	+	2	0	GPR158	25505068	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.497000	0.60367	1.329000	0.45376	0.655000	0.94253	GGC	.		0.701	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
PARD3	56288	broad.mit.edu	37	10	34663856	34663856	+	Silent	SNP	T	T	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:34663856T>A	ENST00000374789.3	-	11	1939	c.1614A>T	c.(1612-1614)ggA>ggT	p.G538G	PARD3_ENST00000544292.1_Silent_p.G268G|PARD3_ENST00000374776.1_Silent_p.G538G|PARD3_ENST00000374790.3_Silent_p.G494G|PARD3_ENST00000374794.3_Silent_p.G494G|PARD3_ENST00000545693.1_Silent_p.G538G|PARD3_ENST00000340077.5_Silent_p.G538G|PARD3_ENST00000374773.1_Silent_p.G538G|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000374788.3_Silent_p.G538G|PARD3_ENST00000545260.1_Silent_p.G494G|PARD3_ENST00000346874.4_Silent_p.G538G|PARD3_ENST00000350537.4_Silent_p.G538G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCTCACAGTTCCTTCCATCT	0.438																																					p.G538G		.											.	PARD3-92	0			c.A1614T						.						157.0	153.0	154.0					10																	34663856		2203	4300	6503	SO:0001819	synonymous_variant	56288	exon11			CACAGTTCCTTCC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1614A>T	10.37:g.34663856T>A		102	0		120	5	NM_001184788	0	0	0	0	0	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																			.		0.438	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
BMS1	9790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	43285924	43285924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:43285924C>T	ENST00000374518.5	+	5	664	c.601C>T	c.(601-603)Cga>Tga	p.R201*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	201	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GACAAAGAAGCGATTAAAACA	0.393																																					p.R201X		.											.	BMS1-93	0			c.C601T						.						77.0	77.0	77.0					10																	43285924		2203	4300	6503	SO:0001587	stop_gained	9790	exon5			AAGAAGCGATTAA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.601C>T	10.37:g.43285924C>T	ENSP00000363642:p.Arg201*	64	0		76	7	NM_014753	0	0	7	7	0	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	37	6.412280	0.97546	.	.	ENSG00000165733	ENST00000374518	.	.	.	5.4	2.11	0.27256	.	0.250189	0.42821	D	0.000648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.237	0.59974	0.7066:0.2934:0.0:0.0	.	.	.	.	X	201	.	ENSP00000363642:R201X	R	+	1	2	BMS1	42605930	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.157000	0.42320	0.627000	0.30340	0.491000	0.48974	CGA	.		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	43622076	43622076	+	Silent	SNP	C	C	T	rs369116900		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:43622076C>T	ENST00000355710.3	+	19	3325	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	RET_ENST00000340058.5_Silent_p.D1031D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1031					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTTATGACGACGGCCTCTCAG	0.542		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.D1031D	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	.	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	RET-4507	0			c.C3093T						.	C	,	0,4406		0,0,2203	178.0	170.0	173.0		3093,3093	-8.3	0.4	10		173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1031/1073,1031/1115	43622076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5979	exon19	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	TGACGACGGCCTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3093C>T	10.37:g.43622076C>T		65	0		90	26	NM_020630	0	0	3	6	3	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																			.		0.542	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
PTPN20A	653129	hgsc.bcm.edu	37	10	46584455	46584455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:46584455delT	ENST00000374339.3	-	6	636	c.560delA	c.(559-561)aacfs	p.N187fs	PTPN20A_ENST00000513266.1_Intron|PTPN20A_ENST00000509774.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000503851.1_Intron|PTPN20A_ENST00000374340.3_5'UTR|PTPN20A_ENST00000502254.1_Intron|PTPN20A_ENST00000511769.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000395727.2_Intron|PTPN20A_ENST00000374342.2_Intron|PTPN20A_ENST00000395722.3_Intron|PTPN20A_ENST00000374218.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395721.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000437863.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000506080.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000502705.1_Intron|PTPN20A_ENST00000505814.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000508602.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000509900.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000513156.1_Intron|PTPN20A_ENST00000509599.1_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000395725.3_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000374346.3_Frame_Shift_Del_p.N187fs			Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type 20A	187	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)								Kidney(211;0.201)		TCGGTATCTGTTTTTTTCTCT	0.308																																					p.N187fs		.											.	.	0			c.560delA						.						5.0	4.0	5.0					10																	46584455		747	484	1231	SO:0001589	frameshift_variant	26095	exon7			TATCTGTTTTTTT			10q11.22	2011-06-09			ENSG00000204179	ENSG00000204179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	23422	protein-coding gene	gene with protein product	"""cancer/testis antigen 126"""						Standard			Approved	bA142I17.1, CT126		Q4JDL3	OTTHUMG00000018094	ENST00000374339.3:c.560delA	10.37:g.46584455delT	ENSP00000363459:p.Asn187fs	60	0		80	33	NM_015605	0	0	0	0	0	A6NNH8|B7ZKV3|Q4JDG6|Q4JDK1|Q4JDK5|Q4JDK6|Q4JDK8|Q4JDK9|Q4JDL0|Q4JDL1|Q4JDL4|Q4JDL5|Q4JDL6|Q4JDL7|Q4JDL8|Q5RJ33|Q5T1G3	Frame_Shift_Del	DEL	ENST00000374339.3	37	CCDS31190.1																																																																																			.		0.308	PTPN20A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358639.1		
GPRIN2	9721	hgsc.bcm.edu	37	10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	rs72780221	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8.0	9.0	9.0					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	0	0		9	4	NM_014696	0	0	1	1	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
NPY4R	5540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	47087520	47087520	+	Missense_Mutation	SNP	G	G	A	rs115443559	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:47087520G>A	ENST00000395716.1	+	2	822	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R246H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	246					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGGCAGGGGCGCGTGTTTCAC	0.592													G|||	21	0.00419329	0.0015	0.0	5008	,	,		37940	0.0179		0.001	False		,,,				2504	0.0				p.R246H		.											.	PPYR1-524	0			c.G737A						.	G	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	155.0	121.0	133.0		737	-7.3	0.0	10	dbSNP_132	133	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPYR1	NM_005972.4	29	0,9,6494	AA,AG,GG		0.0233,0.1589,0.0692	benign	246/376	47087520	9,12997	2203	4300	6503	SO:0001583	missense	5540	exon3			AGGGGCGCGTGTT		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.737G>A	10.37:g.47087520G>A	ENSP00000379066:p.Arg246His	111	0		153	26	NM_005972	0	0	0	0	0	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805101	0.16467	0.001589	2.33E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.42513	0.97;0.97	5.12	-7.31	0.01441	GPCR, rhodopsin-like superfamily (1);	0.634744	0.15885	N	0.239827	T	0.30198	0.0757	L	0.41710	1.295	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.03555	-1.1025	10	0.39692	T	0.17	.	16.7815	0.85564	0.8315:0.0:0.1685:0.0	.	246	P50391	NPY4R_HUMAN	H	246	ENSP00000363431:R246H;ENSP00000379066:R246H	ENSP00000363431:R246H	R	+	2	0	PPYR1	46507526	0.688000	0.27680	0.000000	0.03702	0.137000	0.21094	0.635000	0.24629	-1.438000	0.01965	-0.170000	0.13304	CGC	G|0.999;A|0.001		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
C10orf71	118461	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	10	50533416	50533416	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:50533416G>A	ENST00000374144.3	+	3	3114	c.2826G>A	c.(2824-2826)tcG>tcA	p.S942S	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	942										endometrium(1)	1						GGCAGGGGTCGAGCATGGCCA	0.597																																					p.S942S		.											.	C10orf71-90	0			c.G2826A						.						10.0	12.0	12.0					10																	50533416		692	1589	2281	SO:0001819	synonymous_variant	118461	exon3			GGGGTCGAGCATG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2826G>A	10.37:g.50533416G>A		86	0		127	83	NM_001135196	0	0	0	0	0	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			.		0.597	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
DRGX	644168	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	50574313	50574313	+	Missense_Mutation	SNP	G	G	A	rs370735058		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:50574313G>A	ENST00000374139.2	-	6	650	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	DRGX_ENST00000434016.1_Missense_Mutation_p.R219C			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	214					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGTGCTCGCGGGCCTTCATG	0.672																																					.		.											.	.	0			.						.						55.0	65.0	62.0					10																	50574313		2142	4230	6372	SO:0001583	missense	644168	.			GCTCGCGGGCCTT		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.640C>T	10.37:g.50574313G>A	ENSP00000363254:p.Arg214Cys	44	1		127	79	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000374139.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.184657	0.78677	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95001	-3.58;-3.58	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95552	0.8621	10	0.87932	D	0	.	15.8377	0.78811	0.0:0.0:0.8639:0.1361	.	219	C9JW76	.	C	214;219	ENSP00000363254:R214C;ENSP00000401653:R219C	ENSP00000363254:R214C	R	-	1	0	DRGX	50244319	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	3.407000	0.52644	2.595000	0.87683	0.655000	0.94253	CGC	.		0.672	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970	
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	55587306	55587306	+	Missense_Mutation	SNP	C	C	T	rs143538460		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:55587306C>T	ENST00000320301.6	-	32	4608	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	PCDH15_ENST00000395430.1_Missense_Mutation_p.R1402H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1405H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1407H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1365H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1380H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1412H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1412H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1334H|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1405H|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1016H|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1405					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCAGCTTGACGTCTTGGATA	0.498										HNSCC(58;0.16)																											p.R1410H		.											.	PCDH15-193	0			c.G4229A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	78.0		4229,4214,4001,4205,4094,4148,4250,4214,4229,4214,4139,4214	5.4	1.0	10	dbSNP_134	78	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1410/1963,1405/1958,1334/1887,1402/1953,1365/1916,1383/1936,1417/1791,1405/1540,1410/1683,1405/1678,1380/1933,1405/1956	55587306	1,13005	2203	4300	6503	SO:0001583	missense	65217	exon33			GCTTGACGTCTTG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4214G>A	10.37:g.55587306C>T	ENSP00000322604:p.Arg1405His	101	0		105	29	NM_001142763	0	0	2	2	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073745	0.94000	2.27E-4	0.0	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.66638	0.41;0.24;0.38;0.39;0.36;-0.16;0.21;-0.12;0.21;-0.2;-0.22	5.39	5.39	0.77823	.	.	.	.	.	T	0.75774	0.3895	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.996;0.999;0.999;0.997;0.998;0.996;0.996;0.998;0.999;0.999	T	0.77547	-0.2547	9	0.66056	D	0.02	.	19.1073	0.93301	0.0:1.0:0.0:0.0	.	1380;1405;1405;1410;1334;1365;1402;1405;1412;1412;1405;1407;1405	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1412;1407;1405;1405;1016;1412;1365;1405;1380;1405;1402;1410;1334	ENSP00000363076:R1412H;ENSP00000410304:R1407H;ENSP00000378826:R1405H;ENSP00000386693:R1016H;ENSP00000378832:R1412H;ENSP00000378820:R1365H;ENSP00000354950:R1405H;ENSP00000378821:R1380H;ENSP00000322604:R1405H;ENSP00000378818:R1402H;ENSP00000412628:R1334H	ENSP00000322604:R1405H	R	-	2	0	PCDH15	55257312	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.840000	0.75369	2.676000	0.91093	0.561000	0.74099	CGT	C|1.000;T|0.000		0.498	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	61012730	61012730	+	Missense_Mutation	SNP	C	C	T	rs369226393		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:61012730C>T	ENST00000373868.2	-	12	1448	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FAM13C_ENST00000373867.3_Missense_Mutation_p.R370H|FAM13C_ENST00000468840.2_Missense_Mutation_p.R371H|FAM13C_ENST00000419214.2_Missense_Mutation_p.R356H|FAM13C_ENST00000435852.2_Missense_Mutation_p.R454H|FAM13C_ENST00000277705.6_Missense_Mutation_p.R474H|FAM13C_ENST00000442566.3_Missense_Mutation_p.R475H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	454										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGTGGACGGTCTTCATC	0.483																																					p.R454H		.											.	FAM13C-70	0			c.G1361A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	171.0	158.0	162.0		1067,1112,1109,1361	-2.1	0.9	10		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	356/488,371/503,370/502,454/586	61012730	1,13005	2203	4300	6503	SO:0001583	missense	220965	exon12			TGTGGACGGTCTT	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1361G>A	10.37:g.61012730C>T	ENSP00000362975:p.Arg454His	238	0		262	72	NM_198215	0	0	4	4	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885318	0.33255	0.0	1.16E-4	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.43294	0.97;0.98;0.95;0.97;1.0	5.72	-2.12	0.07165	.	0.861912	0.10625	N	0.652873	T	0.14141	0.0342	N	0.01352	-0.895	0.19300	N	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.22277	-1.0221	10	0.40728	T	0.16	2.668	7.212	0.25939	0.0:0.3619:0.1833:0.4548	.	454;370;356;454	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	H	370;454;475;474;356;371;454	ENSP00000362975:R454H;ENSP00000395661:R475H;ENSP00000277705:R474H;ENSP00000391993:R356H;ENSP00000392302:R454H	ENSP00000277705:R474H	R	-	2	0	FAM13C	60682736	0.026000	0.19158	0.931000	0.37212	0.670000	0.39368	-0.088000	0.11198	-0.257000	0.09459	-0.940000	0.02684	CGT	.		0.483	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
SUPV3L1	6832	broad.mit.edu	37	10	70967601	70967601	+	Missense_Mutation	SNP	G	G	A	rs574864266		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:70967601G>A	ENST00000359655.4	+	14	1889	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	610					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTTACGCCGATACATCAAA	0.448																																					p.R610Q		.											.	SUPV3L1-227	0			c.G1829A						.						155.0	134.0	141.0					10																	70967601		2203	4300	6503	SO:0001583	missense	6832	exon14			TACGCCGATACAT	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1829G>A	10.37:g.70967601G>A	ENSP00000352678:p.Arg610Gln	179	0		201	4	NM_003171	0	0	43	43	0	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163193	0.78226	.	.	ENSG00000156502	ENST00000359655	T	0.40476	1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.31294	0.92	0.80722	D	1	P	0.39520	0.676	B	0.31245	0.126	T	0.07347	-1.0777	10	0.15499	T	0.54	-9.0716	19.1669	0.93561	0.0:0.0:1.0:0.0	.	610	Q8IYB8	SUV3_HUMAN	Q	610	ENSP00000352678:R610Q	ENSP00000352678:R610Q	R	+	2	0	SUPV3L1	70637607	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.377000	0.73145	2.615000	0.88500	0.650000	0.86243	CGA	.		0.448	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171	
H2AFY2	55506	broad.mit.edu	37	10	71871407	71871407	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:71871407G>A	ENST00000373255.4	+	9	1351	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	363	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CGGCATCTACGTGCAGGAGAT	0.567																																					p.V363M		.											.	H2AFY2-91	0			c.G1087A						.						55.0	44.0	48.0					10																	71871407		2203	4300	6503	SO:0001583	missense	55506	exon9			ATCTACGTGCAGG	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.1087G>A	10.37:g.71871407G>A	ENSP00000362352:p.Val363Met	91	0		124	5	NM_018649	0	0	42	42	0	Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891875	0.72524	.	.	ENSG00000099284	ENST00000373255	T	0.23754	1.89	6.07	6.07	0.98685	Appr-1-p processing (1);	0.118491	0.56097	D	0.000025	T	0.40743	0.1129	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	P	0.48552	0.581	T	0.23511	-1.0186	10	0.72032	D	0.01	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	363	Q9P0M6	H2AW_HUMAN	M	363	ENSP00000362352:V363M	ENSP00000362352:V363M	V	+	1	0	H2AFY2	71541413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.144000	0.64832	2.884000	0.98904	0.655000	0.94253	GTG	.		0.567	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649	
SPOCK2	9806	hgsc.bcm.edu	37	10	73848075	73848075	+	Silent	SNP	C	C	T	rs2306324	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:73848075C>T	ENST00000373109.2	-	1	456	c.12G>A	c.(10-12)ccG>ccA	p.P4P	SPOCK2_ENST00000317376.4_Silent_p.P4P|SPOCK2_ENST00000412663.1_Silent_p.P4P|SPOCK2_ENST00000536168.1_Silent_p.P4P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	4					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCCGCAGCCCGGGGCGCGCA	0.697													C|||	722	0.144169	0.2201	0.1585	5008	,	,		11692	0.1438		0.0437	False		,,,				2504	0.135				p.P4P		.											.	SPOCK2-90	0			c.G12A						.	C	,	759,3439		58,643,1398	6.0	8.0	7.0		12,12	0.9	0.9	10	dbSNP_100	7	414,7646		9,396,3625	yes	coding-synonymous,coding-synonymous	SPOCK2	NM_001134434.1,NM_014767.2	,	67,1039,5023	TT,TC,CC		5.1365,18.08,9.5693	,	4/78,4/425	73848075	1173,11085	2099	4030	6129	SO:0001819	synonymous_variant	9806	exon2			GCAGCCCGGGGCG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.12G>A	10.37:g.73848075C>T		0	0		4	4	NM_001134434	0	0	0	0	0	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			C|0.870;T|0.130		0.697	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2		
USP54	159195	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75290071	75290071	+	Missense_Mutation	SNP	C	C	T	rs150999517		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:75290071C>T	ENST00000339859.4	-	13	1758	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H	RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.R553H|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R553H|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000428547.1_Missense_Mutation_p.R403H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	553					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TTCCCAGTCACGAGAGTGTAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18720	0.0		0.001	False		,,,				2504	0.0				p.R553H	Colon(195;880 2046 8854 25025 38456)	.											.	USP54-721	0			c.G1658A						.						134.0	128.0	130.0					10																	75290071		1894	4120	6014	SO:0001583	missense	159195	exon12			CAGTCACGAGAGT	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1658G>A	10.37:g.75290071C>T	ENSP00000345216:p.Arg553His	175	1		160	56	NM_152586	0	0	0	0	0	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.96	1.795152	0.31777	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.25085	1.82;1.82;1.82	5.66	-8.44	0.00950	.	0.506389	0.18375	N	0.143144	T	0.19046	0.0457	L	0.53249	1.67	0.09310	N	1	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.04013	0.0;0.001;0.001	T	0.06197	-1.0840	10	0.59425	D	0.04	1.4217	12.2848	0.54786	0.0:0.3478:0.0799:0.5722	.	553;553;553	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	H	553;553;403;553	ENSP00000345216:R553H;ENSP00000386080:R553H;ENSP00000408714:R403H	ENSP00000326547:R553H	R	-	2	0	USP54	74960077	0.000000	0.05858	0.002000	0.10522	0.877000	0.50540	-1.080000	0.03407	-1.805000	0.01239	-0.736000	0.03550	CGT	C|0.999;T|0.000		0.507	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
ZSWIM8	23053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75552240	75552240	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:75552240C>A	ENST00000605216.1	+	10	2160	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P648H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	648							zinc ion binding (GO:0008270)										CCACCCTGTCCTCTCCACGGT	0.627																																					p.P648H		.											.	.	0			c.C1943A						.						30.0	37.0	35.0					10																	75552240		1968	4137	6105	SO:0001583	missense	23053	exon10			CCTGTCCTCTCCA	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1943C>A	10.37:g.75552240C>A	ENSP00000474748:p.Pro648His	84	0		131	47	NM_001242488	0	0	12	17	5	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.34|11.34	1.610039|1.610039	0.28712|0.28712	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706	.|T	.|0.42513	.|0.97	5.4|5.4	3.36|3.36	0.38483|0.38483	.|.	.|0.084546	.|0.47455	.|U	.|0.000225	T|T	0.33644|0.33644	0.0870|0.0870	L|L	0.36672|0.36672	1.1|1.1	0.38514|0.38514	D|D	0.948544|0.948544	.|B;D;B;B	.|0.53885	.|0.0;0.963;0.0;0.0	.|B;P;B;B	.|0.49140	.|0.003;0.601;0.003;0.003	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.22706	.|T	.|0.39	0.0322|0.0322	4.9889|4.9889	0.14203|0.14203	0.2339:0.6582:0.0:0.1079|0.2339:0.6582:0.0:0.1079	.|.	.|648;648;648;648	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	I|H	145|648	.|ENSP00000381693:P648H	.|ENSP00000381693:P648H	L|P	+|+	1|2	0|0	KIAA0913|KIAA0913	75222246|75222246	0.973000|0.973000	0.33851|0.33851	0.928000|0.928000	0.36995|0.36995	0.344000|0.344000	0.29017|0.29017	1.286000|1.286000	0.33273|0.33273	1.446000|1.446000	0.47643|0.47643	0.655000|0.655000	0.94253|0.94253	CTC|CCT	.		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
GHITM	27069	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	85909926	85909926	+	Silent	SNP	G	G	A	rs201995209		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:85909926G>A	ENST00000372134.3	+	7	901	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	236					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATGTGTGCGCCCAGTGAAA	0.532																																					p.A236A		.											.	GHITM-90	0			c.G708A						.						106.0	115.0	112.0					10																	85909926		2031	4188	6219	SO:0001819	synonymous_variant	27069	exon7			GTGTGCGCCCAGT	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.708G>A	10.37:g.85909926G>A		136	1		169	37	NM_014394	0	0	46	58	12	A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	CCDS41542.1																																																																																			G|0.999;A|0.001		0.532	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	
PAPSS2	9060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	89469057	89469057	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:89469057C>T	ENST00000361175.4	+	2	501	c.132C>T	c.(130-132)acC>acT	p.T44T	PAPSS2_ENST00000456849.1_Silent_p.T44T|PAPSS2_ENST00000427144.2_Silent_p.T48T|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	44					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GAGGATGTACCGTGTGGCTAA	0.408																																					p.T44T		.											.	PAPSS2-493	0			c.C132T						.						89.0	78.0	82.0					10																	89469057		2203	4300	6503	SO:0001819	synonymous_variant	9060	exon2			ATGTACCGTGTGG	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.132C>T	10.37:g.89469057C>T		44	0		33	12	NM_001015880	0	0	1	1	0	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	CCDS7385.1																																																																																			.		0.408	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		
LCOR	84458	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	98708916	98708916	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:98708916G>A	ENST00000371097.4	+	6	648	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000540664.1_Silent_p.P34P|LCOR_ENST00000371103.3_Silent_p.P34P|LCOR_ENST00000356016.3_Silent_p.P34P			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	34					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AAAGCCTGCCGAAAGCATCTC	0.502																																					p.P34P		.											.	LCOR-189	0			c.G102A						.						132.0	120.0	124.0					10																	98708916		2203	4300	6503	SO:0001819	synonymous_variant	84458	exon6			CCTGCCGAAAGCA		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.102G>A	10.37:g.98708916G>A		81	1		82	52	NM_001170766	0	0	0	0	0	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	CCDS7451.1																																																																																			.		0.502	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2		
RRP12	23223	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	99129265	99129265	+	Missense_Mutation	SNP	C	C	T	rs370226569		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:99129265C>T	ENST00000370992.4	-	25	2983	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	RRP12_ENST00000536831.1_Missense_Mutation_p.V676M|RRP12_ENST00000315563.6_Missense_Mutation_p.V858M|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.V897M	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	958						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GACTTGACCACGTCACGGGTG	0.607																																					p.V958M		.											.	RRP12-92	0			c.G2872A						.	C	MET/VAL,MET/VAL	0,4406		0,0,2203	109.0	69.0	83.0		2689,2872	5.2	1.0	10		83	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	21,21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	897/1237,958/1298	99129265	1,13003	2203	4299	6502	SO:0001583	missense	23223	exon25			TGACCACGTCACG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2872G>A	10.37:g.99129265C>T	ENSP00000360031:p.Val958Met	155	1		192	74	NM_015179	0	0	5	6	1	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811012	0.70797	0.0	1.16E-4	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.119371	0.56097	D	0.000021	T	0.81688	0.4875	M	0.71581	2.175	0.51012	D	0.999904	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.976;0.99;0.994;0.967	D	0.83637	0.0148	10	0.72032	D	0.01	-26.5444	18.7433	0.91782	0.0:1.0:0.0:0.0	.	897;858;676;958	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	958;858;897;676	ENSP00000360031:V958M;ENSP00000324315:V858M;ENSP00000414863:V897M;ENSP00000446184:V676M	ENSP00000324315:V858M	V	-	1	0	RRP12	99119255	0.993000	0.37304	0.957000	0.39632	0.869000	0.49853	3.014000	0.49590	2.426000	0.82243	0.561000	0.74099	GTG	.		0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
RRP12	23223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	99145706	99145706	+	Silent	SNP	G	G	A	rs377580724		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:99145706G>A	ENST00000370992.4	-	9	1173	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	RRP12_ENST00000536831.1_Silent_p.H72H|RRP12_ENST00000315563.6_Silent_p.H254H|RRP12_ENST00000414986.1_Silent_p.H293H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	354						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGCCTGGCGTGGAAGAGGC	0.627																																					p.H354H		.											.	RRP12-92	0			c.C1062T						.	G	,	0,4406		0,0,2203	61.0	38.0	46.0		879,1062	-5.3	1.0	10		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	293/1237,354/1298	99145706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23223	exon9			CCTGGCGTGGAAG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1062C>T	10.37:g.99145706G>A		173	0		257	157	NM_015179	0	0	0	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			.		0.627	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
PDZD7	79955	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	102789754	102789754	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:102789754C>T	ENST00000370215.3	-	2	448	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Missense_Mutation_p.E75K|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	75						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCTACCTTCGATGGGGGAG	0.637																																					p.E75K		.											.	PDZD7-136	0			c.G223A						.						29.0	36.0	34.0					10																	102789754		2203	4300	6503	SO:0001583	missense	79955	exon2			TACCTTCGATGGG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.223G>A	10.37:g.102789754C>T	ENSP00000359234:p.Glu75Lys	23	0		30	6	NM_001195263	0	0	0	0	0	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109323	0.94292	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11821	2.74	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.105526	0.64402	D	0.000005	T	0.21962	0.0529	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.76494	0.997;0.999	P;P	0.58928	0.693;0.848	T	0.02471	-1.1154	10	0.25106	T	0.35	.	18.9098	0.92479	0.0:1.0:0.0:0.0	.	75;75	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	K	75	ENSP00000359234:E75K	ENSP00000359234:E75K	E	-	1	0	PDZD7	102779744	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.160000	0.77495	2.459000	0.83118	0.448000	0.29417	GAA	.		0.637	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
SUFU	51684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	104359294	104359294	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:104359294C>T	ENST00000369902.3	+	8	1181	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.R339W|SUFU_ENST00000369899.2_Missense_Mutation_p.R339W	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	339					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CGCCCACGACCGGGCCCCGTA	0.572			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																												p.R339W		.	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	.	SUFU-2246	0			c.C1015T						.						64.0	62.0	63.0					10																	104359294		2203	4300	6503	SO:0001583	missense	51684	exon8	Familial Cancer Database		CACGACCGGGCCC	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1015C>T	10.37:g.104359294C>T	ENSP00000358918:p.Arg339Trp	88	0		114	35	NM_001178133	0	0	0	0	0	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476536	0.84640	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.66280	-0.18;-0.2;-0.2	6.07	5.16	0.70880	Suppressor of fused C-terminal (1);	0.052063	0.85682	D	0.000000	T	0.74650	0.3744	L	0.51422	1.61	0.51767	D	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.992;0.997	T	0.77267	-0.2651	10	0.72032	D	0.01	-23.3813	15.3004	0.73945	0.2539:0.7461:0.0:0.0	.	339;339;339	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	W	339	ENSP00000358918:R339W;ENSP00000358915:R339W;ENSP00000411597:R339W	ENSP00000358915:R339W	R	+	1	2	SUFU	104349284	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.883000	0.48554	1.551000	0.49450	0.655000	0.94253	CGG	.		0.572	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	
PDCD11	22984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105182858	105182858	+	Missense_Mutation	SNP	G	G	A	rs370752421		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105182858G>A	ENST00000369797.3	+	18	2705	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	871					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCCAGTGCCCGACCTGGTCCT	0.577																																					p.D871N		.											.	PDCD11-275	0			c.G2611A						.	G	ASN/ASP	0,4406		0,0,2203	135.0	117.0	123.0		2611	5.1	0.5	10		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDCD11	NM_014976.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	871/1872	105182858	1,13005	2203	4300	6503	SO:0001583	missense	22984	exon18			GTGCCCGACCTGG	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2611G>A	10.37:g.105182858G>A	ENSP00000358812:p.Asp871Asn	215	0		294	188	NM_014976	0	0	0	2	2	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865121	0.17250	0.0	1.16E-4	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11169	2.8	5.95	5.05	0.67936	RNA-binding domain, S1 (1);	0.181993	0.64402	D	0.000015	T	0.08179	0.0204	N	0.22421	0.69	0.25480	N	0.987746	B	0.09022	0.002	B	0.06405	0.002	T	0.26710	-1.0095	10	0.25751	T	0.34	-5.7242	12.7883	0.57518	0.0753:0.0:0.9247:0.0	.	871	Q14690	RRP5_HUMAN	N	871	ENSP00000358812:D871N	ENSP00000358812:D871N	D	+	1	0	PDCD11	105172848	0.986000	0.35501	0.536000	0.28039	0.010000	0.07245	3.046000	0.49846	1.532000	0.49169	-0.424000	0.05967	GAC	.		0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
PDCD11	22984	broad.mit.edu;bcgsc.ca	37	10	105185215	105185215	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105185215A>G	ENST00000369797.3	+	20	3332	c.3238A>G	c.(3238-3240)Acc>Gcc	p.T1080A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1080	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCTCCTACTACCAAGCTGAA	0.537																																					p.T1080A		.											.	PDCD11-275	0			c.A3238G						.						98.0	88.0	91.0					10																	105185215		2203	4300	6503	SO:0001583	missense	22984	exon20			CCTACTACCAAGC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3238A>G	10.37:g.105185215A>G	ENSP00000358812:p.Thr1080Ala	196	1		205	16	NM_014976	0	0	1	1	0	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	1.347	-0.592551	0.03799	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.43294	0.95	5.91	-2.42	0.06542	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.608708	0.18161	N	0.149781	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30851	-0.9964	10	0.02654	T	1	-0.1083	6.0941	0.20010	0.1776:0.0:0.3606:0.4618	.	1080	Q14690	RRP5_HUMAN	A	1080	ENSP00000358812:T1080A	ENSP00000358812:T1080A	T	+	1	0	PDCD11	105175205	0.000000	0.05858	0.002000	0.10522	0.509000	0.34042	0.279000	0.18771	-0.556000	0.06134	0.379000	0.24179	ACC	.		0.537	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
CALHM1	255022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	105215444	105215444	+	Missense_Mutation	SNP	G	G	A	rs375270464		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105215444G>A	ENST00000329905.5	-	2	752	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	206					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AAGCAGGGCCGCACAGAGCGC	0.617																																					p.R206W		.											.	CALHM1-91	0			c.C616T						.	G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	39.0	35.0	36.0		616	3.4	1.0	10		36	0,8600		0,0,4300	no	missense	CALHM1	NM_001001412.3	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	206/347	105215444	1,13003	2202	4300	6502	SO:0001583	missense	255022	exon2			AGGGCCGCACAGA	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.616C>T	10.37:g.105215444G>A	ENSP00000329926:p.Arg206Trp	76	0		161	19	NM_001001412	0	0	0	0	0	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349670	0.82132	2.27E-4	0.0	ENSG00000185933	ENST00000329905	T	0.19938	2.11	5.3	3.39	0.38822	.	0.127206	0.53938	D	0.000045	T	0.45155	0.1328	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45131	-0.9282	10	0.87932	D	0	-39.2232	14.2086	0.65750	0.0:0.0:0.7268:0.2732	.	206	Q8IU99	CAHM1_HUMAN	W	206	ENSP00000329926:R206W	ENSP00000329926:R206W	R	-	1	2	CALHM1	105205434	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	4.373000	0.59537	0.580000	0.29522	0.313000	0.20887	CGG	.		0.617	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412	
CALHM3	119395	broad.mit.edu;bcgsc.ca	37	10	105233389	105233389	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105233389C>T	ENST00000369783.4	-	3	823	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	206					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)	2						ACTGTCTGGTCGAAGCAGGGC	0.622																																					p.D206N		.											.	CALHM3-67	0			c.G616A						.						10.0	14.0	13.0					10																	105233389		691	1590	2281	SO:0001583	missense	119395	exon3			TCTGGTCGAAGCA	BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.616G>A	10.37:g.105233389C>T	ENSP00000358798:p.Asp206Asn	50	0		164	6	NM_001129742	0	0	0	0	0	Q5W090|Q8IXR2	Missense_Mutation	SNP	ENST00000369783.4	37	CCDS44476.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.722903	0.15439	.	.	ENSG00000183128	ENST00000369783	T	0.16897	2.31	5.67	3.68	0.42216	.	0.339124	0.30791	N	0.008875	T	0.09379	0.0231	N	0.14661	0.345	0.41997	D	0.990872	B	0.15719	0.014	B	0.13407	0.009	T	0.15549	-1.0433	10	0.33141	T	0.24	-1.2382	8.2429	0.31671	0.0:0.7139:0.1318:0.1543	.	206	Q86XJ0-2	.	N	206	ENSP00000358798:D206N	ENSP00000358798:D206N	D	-	1	0	CALHM3	105223379	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	1.114000	0.31196	1.372000	0.46190	0.462000	0.41574	GAC	.		0.622	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050157.1	NM_182494	
MCMBP	79892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	121586489	121586489	+	IGR	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:121586489A>G	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.N256D|INPP5F_ENST00000361976.2_Missense_Mutation_p.N866D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATTCCTTACAAATTCTAAGTC	0.428																																					p.N866D		.											.	INPP5F-229	0			c.A2596G						.						125.0	112.0	116.0					10																	121586489		2203	4300	6503	SO:0001628	intergenic_variant	22876	exon20			CTTACAAATTCTA	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586489A>G		143	0		183	110	NM_014937	0	0	0	0	0	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944564	0.53079	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.43688	1.17;0.94	5.92	5.92	0.95590	.	0.187324	0.46145	D	0.000302	T	0.31638	0.0803	L	0.27053	0.805	0.80722	D	1	D;P	0.53151	0.958;0.651	B;B	0.42692	0.395;0.212	T	0.07673	-1.0760	10	0.10636	T	0.68	-31.8935	16.3631	0.83280	1.0:0.0:0.0:0.0	.	256;866	Q5W135;Q9Y2H2	.;SAC2_HUMAN	D	866;256	ENSP00000354519:N866D;ENSP00000358076:N256D	ENSP00000354519:N866D	N	+	1	0	INPP5F	121576479	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	4.020000	0.57189	2.266000	0.75297	0.533000	0.62120	AAT	.		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
ADAM12	8038	ucsc.edu;bcgsc.ca;mdanderson.org	37	10	127755329	127755329	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:127755329G>A	ENST00000368679.4	-	13	1688	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.P460L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	460	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACAGCGTCCGGCTTCAGGGT	0.547																																					p.P460L		.											.	ADAM12-716	0			c.C1379T						.						96.0	84.0	88.0					10																	127755329		2203	4300	6503	SO:0001583	missense	8038	exon13			GCGTCCGGCTTCA	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1379C>T	10.37:g.127755329G>A	ENSP00000357668:p.Pro460Leu	339	2		374	122	NM_021641	0	0	0	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310407	0.60414	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.11385	2.78;2.78	4.56	4.56	0.56223	Blood coagulation inhibitor, Disintegrin (5);	0.143197	0.48767	D	0.000171	T	0.17916	0.0430	M	0.61703	1.905	0.80722	D	1	P;P;P;P;P	0.51653	0.947;0.934;0.934;0.934;0.905	P;B;B;B;B	0.44561	0.453;0.324;0.324;0.324;0.439	T	0.02610	-1.1134	10	0.72032	D	0.01	.	17.8961	0.88888	0.0:0.0:1.0:0.0	.	457;457;460;457;460	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	L	460	ENSP00000357668:P460L;ENSP00000357665:P460L	ENSP00000357665:P460L	P	-	2	0	ADAM12	127745319	0.940000	0.31905	0.849000	0.33467	0.428000	0.31595	2.544000	0.45761	2.507000	0.84556	0.655000	0.94253	CCG	.		0.547	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
PWWP2B	170394	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	134219725	134219725	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:134219725C>T	ENST00000305233.5	+	2	1780	c.1721C>T	c.(1720-1722)gCa>gTa	p.A574V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	574										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCAAATGCCGCAAGACACGTG	0.498																																					p.A574V		.											.	PWWP2B-90	0			c.C1721T						.						68.0	74.0	72.0					10																	134219725		2203	4300	6503	SO:0001583	missense	170394	exon2			ATGCCGCAAGACA	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1721C>T	10.37:g.134219725C>T	ENSP00000306324:p.Ala574Val	121	2		159	103	NM_138499	0	0	16	60	44	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008023	0.19199	.	.	ENSG00000171813	ENST00000305233	T	0.59638	0.25	4.28	4.28	0.50868	.	0.094359	0.43110	U	0.000612	T	0.35068	0.0919	N	0.10874	0.06	0.80722	D	1	B	0.19706	0.038	B	0.16722	0.016	T	0.17258	-1.0375	10	0.30854	T	0.27	.	9.7641	0.40550	0.0:0.8937:0.0:0.1063	.	574	Q6NUJ5	PWP2B_HUMAN	V	574	ENSP00000306324:A574V	ENSP00000306324:A574V	A	+	2	0	PWWP2B	134069715	0.894000	0.30519	0.602000	0.28890	0.368000	0.29767	1.394000	0.34509	2.396000	0.81511	0.563000	0.77884	GCA	.		0.498	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
RASSF7	8045	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	562158	562158	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:562158C>T	ENST00000397583.3	+	3	637	c.204C>T	c.(202-204)ggC>ggT	p.G68G	RASSF7_ENST00000454668.2_Silent_p.G68G|RASSF7_ENST00000431809.1_Silent_p.G68G|RASSF7_ENST00000344375.4_Silent_p.G68G|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000397582.3_Silent_p.G68G|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	68	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGTGGGCGCCCAGGCCA	0.637																																					p.G68G	Pancreas(184;1170 3913 7268)	.											.	RASSF7-91	0			c.C204T						.						24.0	24.0	24.0					11																	562158		2201	4298	6499	SO:0001819	synonymous_variant	8045	exon3			AGTGGGCGCCCAG	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.204C>T	11.37:g.562158C>T		77	0		173	11	NM_001143994	0	0	16	16	0	G5E9N9|Q3KP41|Q3KP42	Silent	SNP	ENST00000397583.3	37	CCDS7702.1																																																																																			.		0.637	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475	
PHRF1	57661	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	11	598468	598468	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:598468G>A	ENST00000264555.5	+	9	1118	c.990G>A	c.(988-990)acG>acA	p.T330T	PHRF1_ENST00000416188.2_Silent_p.T330T|PHRF1_ENST00000413872.2_Silent_p.T329T|PHRF1_ENST00000533464.1_Silent_p.T326T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	330	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCCTGACGCCGCGCACTC	0.662																																					p.T330T		.											.	PHRF1-22	0			c.G990A						.						23.0	30.0	28.0					11																	598468		2087	4204	6291	SO:0001819	synonymous_variant	57661	exon9			CCTGACGCCGCGC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.990G>A	11.37:g.598468G>A		8	0		56	47	NM_020901	0	0	0	11	11	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																				.		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
MUC2	4583	bcgsc.ca	37	11	1093410	1093410	+	Silent	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1093410C>A	ENST00000441003.2	+	30	5256	c.5229C>A	c.(5227-5229)acC>acA	p.T1743T	MUC2_ENST00000359061.5_Silent_p.T1710T|MUC2_ENST00000333592.6_Silent_p.T31T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1743T(1)|p.T1710T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agaccccaaccacgacaccca	0.642																																					p.T1743T		.											.	MUC2-90	2	Substitution - coding silent(2)	prostate(2)	c.C5229A						.						209.0	243.0	231.0					11																	1093410		2021	3936	5957	SO:0001819	synonymous_variant	4583	exon30			CCCAACCACGACA	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5229C>A	11.37:g.1093410C>A		126	3		118	9	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	bcgsc.ca	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112				p.P2659A		.											.	.	1	Substitution - Missense(1)	skin(1)	c.C7975G						.						98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897	exon31			CACACCCCCACAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala	492	17		537	80	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC	.		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	mdanderson.org	37	11	1266656	1266656	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1266656G>A	ENST00000529681.1	+	31	8604	c.8546G>A	c.(8545-8547)cGc>cAc	p.R2849H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2852H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2849	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCAAGACCCGCACCTCGACC	0.687																																					p.R2849H		.											.	.	0			c.G8546A						.						39.0	57.0	51.0					11																	1266656		1942	4058	6000	SO:0001583	missense	727897	exon31			AGACCCGCACCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8546G>A	11.37:g.1266656G>A	ENSP00000436812:p.Arg2849His	24	1		114	53	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	9.309	1.054964	0.19907	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18810	2.19;2.38	3.48	-6.97	0.01616	.	.	.	.	.	T	0.10809	0.0264	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.38329	-0.9666	9	0.87932	D	0	.	6.9435	0.24506	0.5036:0.1548:0.3416:0.0	.	3432;2852	A7Y9J9;E9PBJ0	.;.	H	2849;2852;2821;2809	ENSP00000436812:R2849H;ENSP00000415793:R2852H	ENSP00000343037:R2821H	R	+	2	0	MUC5B	1223232	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.449000	0.06812	-1.327000	0.02264	-0.319000	0.08680	CGC	.		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	bcgsc.ca	37	11	1267793	1267793	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1267793C>T	ENST00000529681.1	+	31	9741	c.9683C>T	c.(9682-9684)aCa>aTa	p.T3228I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3231I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3228	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGAGAAGCACAGCCACCACA	0.647																																					p.T3228I		.											.	.	0			c.C9683T						.						126.0	178.0	161.0					11																	1267793		2166	4257	6423	SO:0001583	missense	727897	exon31			GAAGCACAGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9683C>T	11.37:g.1267793C>T	ENSP00000436812:p.Thr3228Ile	285	4		292	89	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.045	0.193989	0.09599	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19669	2.13;2.31	1.99	-3.98	0.04082	.	.	.	.	.	T	0.15435	0.0372	L	0.61218	1.895	0.09310	N	1	B;B	0.29301	0.241;0.241	B;B	0.14578	0.011;0.011	T	0.20907	-1.0261	9	0.87932	D	0	.	2.5019	0.04636	0.1615:0.4503:0.2632:0.125	.	3811;3231	A7Y9J9;E9PBJ0	.;.	I	3228;3231;3200;3188	ENSP00000436812:T3228I;ENSP00000415793:T3231I	ENSP00000343037:T3200I	T	+	2	0	MUC5B	1224369	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.810000	0.04505	-1.119000	0.02958	0.195000	0.17529	ACA	.		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	broad.mit.edu	37	11	1269600	1269600	+	Silent	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1269600T>C	ENST00000529681.1	+	31	11548	c.11490T>C	c.(11488-11490)acT>acC	p.T3830T	MUC5B_ENST00000447027.1_Silent_p.T3833T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3830	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGCCCACACCT	0.652																																					p.T3830T		.											.	.	0			c.T11490C						.						125.0	154.0	144.0					11																	1269600		2113	4196	6309	SO:0001819	synonymous_variant	727897	exon31			AGAGACTGCCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11490T>C	11.37:g.1269600T>C		325	0		238	14	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	bcgsc.ca	37	11	1270826	1270826	+	Missense_Mutation	SNP	T	T	C	rs4046507	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1270826T>C	ENST00000529681.1	+	31	12774	c.12716T>C	c.(12715-12717)aTg>aCg	p.M4239T	MUC5B_ENST00000447027.1_Missense_Mutation_p.M4242T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4239	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCTACGGCCATGCCCTCCTCC	0.612																																					p.M4239T		.											.	.	0			c.T12716C						.						55.0	62.0	60.0					11																	1270826		1897	4071	5968	SO:0001583	missense	727897	exon31			CGGCCATGCCCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12716T>C	11.37:g.1270826T>C	ENSP00000436812:p.Met4239Thr	377	78		373	314	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.170|2.170	-0.390171|-0.390171	0.04932|0.04932	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.15603	.|2.41;2.6	1.98|1.98	-0.546|-0.546	0.11840|0.11840	.|.	.|.	.|.	.|.	.|.	T|T	0.07007|0.07007	0.0178|0.0178	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.33137|0.33137	-0.9880|-0.9880	6|9	0.17369|0.87932	T|D	0.5|0	.|.	7.5765|7.5765	0.27939|0.27939	0.0:0.6436:0.0:0.3564|0.0:0.6436:0.0:0.3564	.|.	.|4712;4242	.|A7Y9J9;E9PBJ0	.|.;.	R|T	19|4239;4242;4183;4089	.|ENSP00000436812:M4239T;ENSP00000415793:M4242T	ENSP00000439776:C19R|ENSP00000343037:M4183T	C|M	+|+	1|2	0|0	MUC5B|MUC5B	1227402|1227402	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.254000|-0.254000	0.08781|0.08781	-0.898000|-0.898000	0.03906|0.03906	-0.534000|-0.534000	0.04291|0.04291	TGC|ATG	T|0.976;C|0.024		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu	37	11	1276467	1276467	+	Silent	SNP	A	A	G	rs56344012	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1276467A>G	ENST00000529681.1	+	36	15919	c.15861A>G	c.(15859-15861)ccA>ccG	p.P5287P	MUC5B_ENST00000447027.1_Silent_p.P5290P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5287	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATGCCCACCACAGCCGCTCT	0.716													G|||	76	0.0151757	0.0166	0.0086	5008	,	,		8165	0.002		0.0378	False		,,,				2504	0.0082				p.P5287P		.											.	.	0			c.A15861G						.						12.0	14.0	13.0					11																	1276467		1798	3846	5644	SO:0001819	synonymous_variant	727897	exon36			CCCACCACAGCCG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15861A>G	11.37:g.1276467A>G		6	0		24	18	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.981;G|0.019		0.716	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR51F2	119694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	4843086	4843086	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:4843086G>T	ENST00000322110.5	+	1	536	c.471G>T	c.(469-471)aaG>aaT	p.K157N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GAATTGCCAAGATTGGGATGA	0.468																																					p.K157N		.											.	OR51F2-70	0			c.G471T						.						296.0	251.0	266.0					11																	4843086		2201	4298	6499	SO:0001583	missense	119694	exon1			TGCCAAGATTGGG	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.471G>T	11.37:g.4843086G>T	ENSP00000323952:p.Lys157Asn	198	1		148	77	NM_001004753	0	0	0	0	0	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911685	0.17833	.	.	ENSG00000176925	ENST00000322110	T	0.13538	2.58	4.64	0.14	0.14804	GPCR, rhodopsin-like superfamily (1);	0.796110	0.10314	U	0.689652	T	0.14098	0.0341	L	0.55743	1.74	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.21075	-1.0256	10	0.59425	D	0.04	.	3.6646	0.08252	0.0862:0.141:0.4841:0.2886	.	157	Q8NH61	O51F2_HUMAN	N	157	ENSP00000323952:K157N	ENSP00000323952:K157N	K	+	3	2	OR51F2	4799662	0.067000	0.21026	0.721000	0.30653	0.124000	0.20399	0.295000	0.19065	0.245000	0.21373	0.561000	0.74099	AAG	.		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753	
MICAL2	9645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	12234878	12234878	+	Silent	SNP	G	G	A	rs138615174		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:12234878G>A	ENST00000256194.4	+	7	1056	c.768G>A	c.(766-768)gcG>gcA	p.A256A	MICAL2_ENST00000342902.5_Silent_p.A256A|MICAL2_ENST00000379612.3_Silent_p.A256A|MICAL2_ENST00000537344.1_Silent_p.A256A|MICAL2_ENST00000527546.1_Silent_p.A256A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	256	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACAGCACAGCGGAAGCCAAGG	0.448																																					p.A256A		.											.	MICAL2-92	0			c.G768A						.	G		1,4401	2.1+/-5.4	0,1,2200	142.0	156.0	151.0		768	-10.0	0.2	11	dbSNP_134	151	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		256/1125	12234878	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	9645	exon7			CACAGCGGAAGCC	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.768G>A	11.37:g.12234878G>A		107	0		101	99	NM_014632	0	0	0	0	0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																			G|1.000;A|0.000		0.448	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
INSC	387755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	15262049	15262049	+	Missense_Mutation	SNP	G	G	A	rs201482506	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:15262049G>A	ENST00000379554.3	+	12	1637	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.A484T|INSC_ENST00000530161.1_Missense_Mutation_p.A484T|INSC_ENST00000424273.1_Missense_Mutation_p.A442T|INSC_ENST00000528567.1_Missense_Mutation_p.A484T|INSC_ENST00000525218.1_Missense_Mutation_p.A442T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	531					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)				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						CAGCAGTGACGCCGTGCTTGT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		17072	0.002		0.0	False		,,,				2504	0.0				p.A531T		.											.	INSC-94	0			c.G1591A						.	G	THR/ALA,THR/ALA	0,4082		0,0,2041	62.0	68.0	66.0		1591,1450	3.3	0.4	11		66	1,8389		0,1,4194	yes	missense,missense	INSC	NM_001031853.3,NM_001042536.1	58,58	0,1,6235	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	531/580,484/533	15262049	1,12471	2041	4195	6236	SO:0001583	missense	387755	exon12			AGTGACGCCGTGC	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.1591G>A	11.37:g.15262049G>A	ENSP00000368872:p.Ala531Thr	117	0		112	51	NM_001031853	0	0	0	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.34	3.095184	0.56075	0.0	1.19E-4	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.85;0.8;0.8	5.48	3.27	0.37495	Armadillo-like helical (1);Armadillo-type fold (1);	0.198311	0.44688	D	0.000430	T	0.31071	0.0785	L	0.29908	0.895	0.36769	D	0.883708	P;B;P;P	0.43973	0.823;0.259;0.789;0.625	B;B;B;B	0.37015	0.239;0.063;0.128;0.128	T	0.34527	-0.9825	10	0.39692	T	0.17	-10.4051	9.6971	0.40165	0.0:0.1168:0.6726:0.2106	.	519;442;484;531	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	531;484;442;484;484;442	ENSP00000368872:A531T;ENSP00000368874:A484T;ENSP00000389161:A442T;ENSP00000435022:A484T;ENSP00000436194:A484T;ENSP00000436113:A442T	ENSP00000368872:A531T	A	+	1	0	INSC	15218625	1.000000	0.71417	0.395000	0.26283	0.786000	0.44442	4.614000	0.61183	1.405000	0.46838	0.650000	0.86243	GCC	G|0.999;A|0.000		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
KCNJ11	3767	bcgsc.ca	37	11	17408630	17408630	+	Missense_Mutation	SNP	C	C	T	rs5215	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:17408630C>T	ENST00000339994.4	-	1	1576	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KCNJ11_ENST00000528731.1_Missense_Mutation_p.V250I|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	337			I -> V (linked to K-23; dbSNP:rs5215). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:16429405, ECO:0000269|PubMed:16554811, ECO:0000269|PubMed:8897013, ECO:0000269|PubMed:9032109}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGCACTTTGACGGTGTTGCCA	0.617											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	3659	0.730631	0.9546	0.7032	5008	,	,		20339	0.6617		0.6471	False		,,,				2504	0.6043				p.V337I		.											.	KCNJ11-91	0			c.G1009A						.	T	ILE/VAL,ILE/VAL	4018,382	190.2+/-216.2	1833,352,15	165.0	145.0	152.0	http://www.ncbi.nlm.nih.gov/pubmed?term	1009,748	-6.0	0.8	11	dbSNP_52	152	5488,3098	473.5+/-368.6	1740,2008,545	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	29,29	3573,2360,560	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	36.082,8.6818,26.7981	benign,benign	337/391,250/304	17408630	9506,3480	2200	4293	6493	SO:0001583	missense	3767	exon1			CTTTGACGGTGTT	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1009G>A	11.37:g.17408630C>T	ENSP00000345708:p.Val337Ile	200	1	717	255	8	NM_000525	0	0	0	0	0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	1573	0.7202380952380952	465	0.9451219512195121	250	0.6906077348066298	355	0.6206293706293706	503	0.6635883905013192	T	11.98	1.800702	0.31869	0.913182	0.63918	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.94138	-3.36;-3.36	5.43	-5.99	0.02213	.	0.498835	0.19829	N	0.105135	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.11235	0.004	B	0.13407	0.009	T	0.54754	-0.8246	8	0.48119	T	0.1	.	21.9712	0.99964	0.0:0.8139:0.0:0.1861	rs5215;rs56731467;rs5215	337	B2RC52	.	I	337;250	ENSP00000345708:V337I;ENSP00000434755:V250I	ENSP00000345708:V337I	V	-	1	0	KCNJ11	17365206	0.007000	0.16637	0.778000	0.31720	0.975000	0.68041	-0.140000	0.10342	-1.420000	0.02009	-0.361000	0.07541	GTC	C|0.272;T|0.728		0.617	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525	
HPS5	11234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	18339355	18339355	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:18339355C>T	ENST00000349215.3	-	2	328	c.51G>A	c.(49-51)gaG>gaA	p.E17E	HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000396253.3_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	17					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGATTCAAACTCTGCAAGAA	0.443									Hermansky-Pudlak syndrome																												p.E17E		.											.	HPS5-133	0			c.G51A						.						77.0	70.0	72.0					11																	18339355		2199	4293	6492	SO:0001819	synonymous_variant	11234	exon2	Familial Cancer Database	HPS, HPS1-8	TTCAAACTCTGCA	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.51G>A	11.37:g.18339355C>T		166	0		117	6	NM_181507	0	0	0	0	0	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			.		0.443	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
LDHA	3939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	18422479	18422479	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:18422479G>A	ENST00000422447.3	+	4	613	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	LDHA_ENST00000396222.2_Missense_Mutation_p.V114M|LDHA_ENST00000540430.1_Missense_Mutation_p.V143M|LDHA_ENST00000227157.4_Missense_Mutation_p.V114M|LDHA_ENST00000379412.5_Missense_Mutation_p.V114M|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000542179.1_Missense_Mutation_p.V114M	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	114					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						CCAGCGTAACGTGAACATCTT	0.418																																					p.V143M		.											.	LDHA-650	0			c.G427A						.						99.0	82.0	88.0					11																	18422479		2199	4293	6492	SO:0001583	missense	3939	exon4			CGTAACGTGAACA	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.340G>A	11.37:g.18422479G>A	ENSP00000395337:p.Val114Met	191	0		130	76	NM_001165414	0	0	2	2	0	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282976	0.95489	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.064498	0.64402	N	0.000008	D	0.94689	0.8287	M	0.79693	2.465	0.80722	D	1	D;D;D;P	0.71674	0.977;0.983;0.998;0.741	B;P;P;P	0.52454	0.376;0.699;0.616;0.511	D	0.94998	0.8140	10	0.62326	D	0.03	-0.9052	18.9123	0.92490	0.0:0.0:1.0:0.0	.	143;87;114;114	B7Z5E3;B4DJI1;F8W819;P00338	.;.;.;LDHA_HUMAN	M	114;114;114;86;87;114;114;114;143;114;114	ENSP00000395337:V114M;ENSP00000440161:V114M;ENSP00000379524:V114M;ENSP00000227157:V114M;ENSP00000441241:V114M;ENSP00000446415:V114M;ENSP00000445175:V143M;ENSP00000368722:V114M;ENSP00000445331:V114M	ENSP00000227157:V114M	V	+	1	0	LDHA	18379055	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.560000	0.82277	2.771000	0.95319	0.561000	0.74099	GTG	.		0.418	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	20075678	20075678	+	Missense_Mutation	SNP	C	C	T	rs372406009		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:20075678C>T	ENST00000396087.3	+	19	4702	c.4603C>T	c.(4603-4605)Cgg>Tgg	p.R1535W	NAV2_ENST00000311043.8_Missense_Mutation_p.R576W|NAV2_ENST00000349880.4_Missense_Mutation_p.R1512W|NAV2_ENST00000360655.4_Missense_Mutation_p.R1448W|NAV2_ENST00000533917.1_Missense_Mutation_p.R576W|NAV2_ENST00000396085.1_Missense_Mutation_p.R1512W|NAV2_ENST00000527559.2_Missense_Mutation_p.R1464W|NAV2_ENST00000540292.1_Missense_Mutation_p.R1466W	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1535	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGAATGGTTACGGTCCCATTC	0.498																																					p.R1535W		.											.	NAV2-96	0			c.C4603T						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	68.0	73.0		4342,1726,4534,4534	4.0	1.0	11		73	0,8600		0,0,4300	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1448/2366,576/1494,1512/2430,1512/2433	20075678	1,13005	2203	4300	6503	SO:0001583	missense	89797	exon19			TGGTTACGGTCCC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4603C>T	11.37:g.20075678C>T	ENSP00000379396:p.Arg1535Trp	96	0		86	74	NM_001244963	0	0	0	1	1	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747362	0.89663	2.27E-4	0.0	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.13;1.13;1.15;1.06;1.06;2.68;1.41;2.68	5.91	3.99	0.46301	.	0.000000	0.64402	D	0.000018	T	0.61085	0.2319	M	0.62723	1.935	0.80722	D	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	1.0;0.999;0.997;0.998;1.0;0.999	T	0.60616	-0.7228	9	.	.	.	.	15.3187	0.74102	0.2428:0.7572:0.0:0.0	.	1512;1535;576;561;1512;1448	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	W	1448;1512;1512;1535;1464;1466;576;561;576;561	ENSP00000353871:R1448W;ENSP00000379394:R1512W;ENSP00000309577:R1512W;ENSP00000379396:R1535W;ENSP00000435395:R1464W;ENSP00000443489:R1466W;ENSP00000437316:R576W;ENSP00000437136:R561W;ENSP00000312169:R576W	.	R	+	1	2	NAV2	20032254	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.641000	0.61375	0.782000	0.33613	0.655000	0.94253	CGG	.		0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
LRRC4C	57689	ucsc.edu;bcgsc.ca;mdanderson.org	37	11	40136451	40136451	+	Silent	SNP	C	C	T	rs116285789	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:40136451C>T	ENST00000278198.2	-	2	3355	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	LRRC4C_ENST00000528697.1_Silent_p.P464P|LRRC4C_ENST00000530763.1_Silent_p.P464P|LRRC4C_ENST00000527150.1_Silent_p.P464P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	464					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CATCCTGAGACGGTTCCATAG	0.517													C|||	14	0.00279553	0.0091	0.0	5008	,	,		20971	0.002		0.0	False		,,,				2504	0.0				p.P464P		.											.	LRRC4C-521	0			c.G1392A						.	C		49,4357	49.6+/-84.7	1,47,2155	130.0	123.0	125.0		1392	4.7	1.0	11	dbSNP_132	125	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		1,47,6455	TT,TC,CC		0.0,1.1121,0.3767		464/641	40136451	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	57689	exon7			CTGAGACGGTTCC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1392G>A	11.37:g.40136451C>T		168	1		183	88	NM_001258419	0	0	1	6	5	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																			C|0.996;T|0.004		0.517	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
SLC35C1	55343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	45832787	45832787	+	Silent	SNP	C	C	T	rs144046143		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:45832787C>T	ENST00000314134.3	+	2	2392	c.996C>T	c.(994-996)ggC>ggT	p.G332G	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Silent_p.G319G|SLC35C1_ENST00000442528.2_Silent_p.G319G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	332					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTGCTGGGCGGCTCCTCCG	0.642																																					p.G332G		.											.	SLC35C1-90	0			c.C996T						.						27.0	29.0	29.0					11																	45832787		2203	4299	6502	SO:0001819	synonymous_variant	55343	exon2			GCTGGGCGGCTCC		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.996C>T	11.37:g.45832787C>T		41	0		47	45	NM_018389	0	0	0	7	7	B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	CCDS7914.1																																																																																			C|1.000;T|0.000		0.642	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389	
CRY2	1408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	45892023	45892023	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:45892023C>T	ENST00000443527.2	+	9	1574	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	CRY2_ENST00000417225.2_Missense_Mutation_p.R436W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	497					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CGAGACCAGCCGGCTTAACAT	0.537																																					p.R518W	Esophageal Squamous(106;91 1499 8126 12599 39610)	.											.	CRY2-90	0			c.C1552T						.						86.0	75.0	79.0					11																	45892023		2203	4299	6502	SO:0001583	missense	1408	exon9			ACCAGCCGGCTTA	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1552C>T	11.37:g.45892023C>T	ENSP00000406751:p.Arg518Trp	169	0		127	20	NM_021117	0	0	5	5	0	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553007	0.86127	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	5.63	0.86233	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.056451	0.64402	D	0.000001	D	0.84437	0.5472	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.993	P;D;P	0.66979	0.849;0.948;0.764	D	0.86633	0.1887	9	0.87932	D	0	-29.7749	19.6937	0.96012	0.0:1.0:0.0:0.0	.	497;518;436	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	W	436;518	.	ENSP00000397419:R436W	R	+	1	2	CRY2	45848599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.955000	0.40372	2.665000	0.90641	0.655000	0.94253	CGG	.		0.537	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117	
ARHGAP1	392	broad.mit.edu	37	11	46703669	46703669	+	Silent	SNP	G	G	A	rs564406586		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:46703669G>A	ENST00000311956.4	-	5	478	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	127	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTCAGGCCGTGGTGCAGAT	0.607													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18293	0.0		0.0	False		,,,				2504	0.0				p.H127H		.											.	ARHGAP1-227	0			c.C381T						.						242.0	184.0	204.0					11																	46703669		2201	4299	6500	SO:0001819	synonymous_variant	392	exon5			CAGGCCGTGGTGC	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.381C>T	11.37:g.46703669G>A		273	0		221	6	NM_004308	0	0	2	2	0	D3DQQ6	Silent	SNP	ENST00000311956.4	37	CCDS7922.1																																																																																			.		0.607	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308	
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	46914637	46914637	+	Silent	SNP	G	G	A	rs574108233		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:46914637G>A	ENST00000378623.1	-	13	1826	c.1584C>T	c.(1582-1584)acC>acT	p.T528T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	528					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCCTGAGTCGGTCCAGTAGA	0.592																																					p.T528T		.											.	LRP4-94	0			c.C1584T						.						52.0	46.0	48.0					11																	46914637		2201	4299	6500	SO:0001819	synonymous_variant	4038	exon13			TGAGTCGGTCCAG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1584C>T	11.37:g.46914637G>A		78	0		66	33	NM_002334	0	0	0	0	0	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																			.		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
PACSIN3	29763	hgsc.bcm.edu	37	11	47202120	47202120	+	Silent	SNP	G	G	A	rs2291445	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:47202120G>A	ENST00000539589.1	-	5	675	c.333C>T	c.(331-333)cgC>cgT	p.R111R	PACSIN3_ENST00000298838.6_Silent_p.R111R	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	111	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCTGCCAGGCGCGCACCCGCT	0.711													G|||	152	0.0303514	0.0	0.0663	5008	,	,		14125	0.0982		0.0	False		,,,				2504	0.0072				p.R111R		.											.	PACSIN3-68	0			c.C333T						.	G	,,	9,4355		0,9,2173	20.0	24.0	22.0		333,333,333	-6.6	0.0	11	dbSNP_100	22	2,8530		0,2,4264	no	coding-synonymous,coding-synonymous,coding-synonymous	PACSIN3	NM_001184974.1,NM_001184975.1,NM_016223.4	,,	0,11,6437	AA,AG,GG		0.0234,0.2062,0.0853	,,	111/425,111/425,111/425	47202120	11,12885	2182	4266	6448	SO:0001819	synonymous_variant	29763	exon5			CCAGGCGCGCACC	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.333C>T	11.37:g.47202120G>A		0	0		13	13	NM_016223	0	0	0	4	4	A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	CCDS31481.1																																																																																			G|0.984;A|0.016		0.711	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223	
PTPRJ	5795	broad.mit.edu;bcgsc.ca	37	11	48161171	48161171	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:48161171G>A	ENST00000418331.2	+	11	2638	c.2286G>A	c.(2284-2286)gcG>gcA	p.A762A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	762	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A762A(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAACAATGCGACCCACCTGG	0.537																																					p.A762A		.											.	PTPRJ-541	1	Substitution - coding silent(1)	large_intestine(1)	c.G2286A						.						91.0	85.0	87.0					11																	48161171		2201	4298	6499	SO:0001819	synonymous_variant	5795	exon11			CAATGCGACCCAC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2286G>A	11.37:g.48161171G>A		164	0		134	6	NM_002843	0	0	0	0	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	CCDS7945.1																																																																																			.		0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
ZDHHC5	25921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	57466653	57466653	+	Missense_Mutation	SNP	G	G	A	rs567126462		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:57466653G>A	ENST00000287169.3	+	11	3107	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R529H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	582					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CATGCCCCTCGTACTAGTTCC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18827	0.0		0.0	False		,,,				2504	0.0				p.R582H		.											.	ZDHHC5-226	0			c.G1745A						.						77.0	82.0	80.0					11																	57466653		2201	4296	6497	SO:0001583	missense	25921	exon11			CCCCTCGTACTAG	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1745G>A	11.37:g.57466653G>A	ENSP00000287169:p.Arg582His	57	0		57	53	NM_015457	0	0	0	8	8	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256469	0.39896	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59364	0.27;1.26	5.83	4.91	0.64330	.	0.263831	0.38663	N	0.001602	T	0.57301	0.2044	N	0.14661	0.345	0.45567	D	0.998517	D	0.64830	0.994	D	0.67382	0.951	T	0.58335	-0.7654	10	0.45353	T	0.12	-7.0775	12.3089	0.54918	0.0781:0.0:0.9219:0.0	.	582	Q9C0B5	ZDHC5_HUMAN	H	529;582	ENSP00000432202:R529H;ENSP00000287169:R582H	ENSP00000287169:R582H	R	+	2	0	ZDHHC5	57223229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.930000	0.56522	2.769000	0.95229	0.655000	0.94253	CGT	.		0.597	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457	
GLYATL1	92292	broad.mit.edu;bcgsc.ca	37	11	58723211	58723211	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:58723211C>T	ENST00000317391.4	+	8	960	c.620C>T	c.(619-621)gCa>gTa	p.A207V	GLYATL1_ENST00000300079.5_Missense_Mutation_p.A238V|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	207						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GACCTGCCAGCAGCCTGTATG	0.522																																					p.A238V		.											.	GLYATL1-91	0			c.C713T						.						49.0	49.0	49.0					11																	58723211		2201	4295	6496	SO:0001583	missense	92292	exon7			TGCCAGCAGCCTG	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.620C>T	11.37:g.58723211C>T	ENSP00000322223:p.Ala207Val	185	0		121	5	NM_080661	0	0	0	0	0	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.833109	0.32421	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.18174	2.23;2.23	2.66	-2.22	0.06952	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.523771	0.16571	N	0.208616	T	0.10294	0.0252	L	0.29908	0.895	0.09310	N	1	B;B	0.34313	0.448;0.107	B;B	0.35278	0.199;0.15	T	0.19031	-1.0318	10	0.72032	D	0.01	.	5.6334	0.17524	0.0:0.2619:0.5751:0.163	.	238;207	Q969I3-2;Q969I3	.;GLYL1_HUMAN	V	184;207;238	ENSP00000322223:A207V;ENSP00000300079:A238V	ENSP00000300079:A238V	A	+	2	0	GLYATL1	58479787	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.171000	0.01267	-0.190000	0.10465	0.411000	0.27672	GCA	.		0.522	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
PRPF19	27339	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	60666651	60666651	+	Silent	SNP	G	G	A	rs147483370	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:60666651G>A	ENST00000227524.4	-	11	1159	c.954C>T	c.(952-954)ggC>ggT	p.G318G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.G318G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GGAGATAGTCGCCAGTGGCAT	0.597											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	10	0.00199681	0.0	0.0014	5008	,	,		17802	0.0		0.0089	False		,,,				2504	0.0				p.G318G		.											.	PRPF19-91	1	Substitution - coding silent(1)	lung(1)	c.C954T						.	G		12,4394	19.1+/-41.9	0,12,2191	49.0	39.0	42.0		954	-8.2	1.0	11	dbSNP_134	42	80,8518	47.6+/-106.9	0,80,4219	no	coding-synonymous	PRPF19	NM_014502.4		0,92,6410	AA,AG,GG		0.9304,0.2724,0.7075		318/505	60666651	92,12912	2203	4299	6502	SO:0001819	synonymous_variant	27339	exon11			ATAGTCGCCAGTG	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.954C>T	11.37:g.60666651G>A		108	2	1047	72	64	NM_014502	0	0	1	16	15		Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																			G|0.993;A|0.007		0.597	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
AHNAK	79026	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62298815	62298815	+	Missense_Mutation	SNP	G	G	A	rs201304148		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62298815G>A	ENST00000378024.4	-	5	3348	c.3074C>T	c.(3073-3075)gCg>gTg	p.A1025V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1025					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATTCGCTTTGGACAG	0.458																																					p.A1025V		.											.	AHNAK-109	0			c.C3074T						.						103.0	101.0	102.0					11																	62298815		2202	4299	6501	SO:0001583	missense	79026	exon5			ACATTCGCTTTGG	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3074C>T	11.37:g.62298815G>A	ENSP00000367263:p.Ala1025Val	140	1		107	16	NM_001620	0	0	2	2	0	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	4.494	0.091636	0.08632	.	.	ENSG00000124942	ENST00000378024	T	0.05580	3.42	4.63	2.59	0.31030	.	0.789584	0.11495	N	0.558323	T	0.07413	0.0187	M	0.72118	2.19	0.09310	N	1	B	0.29627	0.252	B	0.21708	0.036	T	0.32693	-0.9897	10	0.24483	T	0.36	-4.8098	5.0552	0.14529	0.1926:0.2746:0.5329:0.0	.	1025	Q09666	AHNK_HUMAN	V	1025	ENSP00000367263:A1025V	ENSP00000367263:A1025V	A	-	2	0	AHNAK	62055391	0.000000	0.05858	0.407000	0.26434	0.249000	0.25844	-0.364000	0.07583	1.077000	0.40990	0.555000	0.69702	GCG	G|1.000;C|0.000		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
NXF1	10482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62561845	62561845	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62561845C>T	ENST00000532297.1	-	20	2274	c.1645G>A	c.(1645-1647)Gct>Act	p.A549T	TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.A549T|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	549					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGCATAGCGAAGGCTCTT	0.502																																					p.A549T		.											.	NXF1-228	0			c.G1645A						.						122.0	114.0	117.0					11																	62561845		2201	4299	6500	SO:0001583	missense	10482	exon19			GCATAGCGAAGGC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1645G>A	11.37:g.62561845C>T	ENSP00000436679:p.Ala549Thr	189	0		132	64	NM_006362	0	0	34	67	33	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141839	0.57044	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.47177	0.85;0.85;0.86	5.38	4.44	0.53790	.	0.185771	0.46758	D	0.000280	T	0.24736	0.0600	N	0.05230	-0.09	0.80722	D	1	B;B	0.24533	0.105;0.059	B;B	0.12156	0.007;0.005	T	0.06006	-1.0851	10	0.15499	T	0.54	-19.7099	12.9794	0.58555	0.163:0.837:0.0:0.0	.	592;549	E9PIN3;Q9UBU9	.;NXF1_HUMAN	T	549;549;592	ENSP00000294172:A549T;ENSP00000436679:A549T;ENSP00000435742:A592T	ENSP00000294172:A549T	A	-	1	0	NXF1	62318421	1.000000	0.71417	0.986000	0.45419	0.953000	0.61014	5.799000	0.69101	1.229000	0.43630	0.462000	0.41574	GCT	.		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
SLC22A8	9376	bcgsc.ca	37	11	62782278	62782278	+	Silent	SNP	C	C	T	rs4149180	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62782278C>T	ENST00000336232.2	-	2	288	c.153G>A	c.(151-153)ccG>ccA	p.P51P	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Silent_p.P51P|SLC22A8_ENST00000311438.8_Silent_p.P51P|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	51					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CATTGTGGGGCGGGCGACAGT	0.622													C|||	955	0.190695	0.5817	0.062	5008	,	,		20022	0.0446		0.0268	False		,,,				2504	0.0726				p.P51P		.											.	SLC22A8-93	0			c.G153A						.	C	,,,	2161,2241	583.8+/-385.9	539,1083,579	162.0	171.0	168.0		153,,,153	-6.9	0.7	11	dbSNP_110	168	245,8351	96.8+/-158.5	2,241,4055	no	coding-synonymous,intron,intron,coding-synonymous	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	,,,	541,1324,4634	TT,TC,CC		2.8502,49.0913,18.5105	,,,	51/543,,,51/543	62782278	2406,10592	2201	4298	6499	SO:0001819	synonymous_variant	9376	exon2			GTGGGGCGGGCGA	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.153G>A	11.37:g.62782278C>T		88	0		85	6	NM_001184732	0	0	0	0	0	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	CCDS8042.1																																																																																			C|0.824;T|0.176		0.622	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
C11orf84	144097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	63594410	63594410	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:63594410G>A	ENST00000294244.4	+	6	1244	c.945G>A	c.(943-945)ccG>ccA	p.P315P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	315										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTCCCCCTCCGGGGCTCCGCG	0.677																																					p.P315P		.											.	C11orf84-90	0			c.G945A						.						12.0	14.0	13.0					11																	63594410		2193	4292	6485	SO:0001819	synonymous_variant	144097	exon6			CCCTCCGGGGCTC	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.945G>A	11.37:g.63594410G>A		30	0		58	25	NM_138471	0	0	1	1	0	Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	CCDS31594.1																																																																																			.		0.677	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471	
SLC22A12	116085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64368361	64368361	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:64368361G>A	ENST00000377574.1	+	9	2296	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	SLC22A12_ENST00000473690.1_Missense_Mutation_p.E296K|SLC22A12_ENST00000377567.2_Missense_Mutation_p.E409K|SLC22A12_ENST00000377572.1_Missense_Mutation_p.E409K|SLC22A12_ENST00000336464.7_Missense_Mutation_p.E483K	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	517					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCTTCTGCCCGAGACCCAGAG	0.662																																					p.E517K		.											.	SLC22A12-91	0			c.G1549A						.						87.0	89.0	88.0					11																	64368361		2201	4297	6498	SO:0001583	missense	116085	exon9			CTGCCCGAGACCC	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1549G>A	11.37:g.64368361G>A	ENSP00000366797:p.Glu517Lys	20	0		35	12	NM_144585	0	0	0	0	0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059430	0.76074	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	H	0.97611	4.04	0.43841	D	0.996428	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.97;0.998;0.979	D	0.89619	0.3847	10	0.87932	D	0	.	14.2686	0.66138	0.0:0.0:1.0:0.0	.	483;409;517	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	K	409;517;409;296;483	ENSP00000366790:E409K;ENSP00000366797:E517K;ENSP00000366795:E409K;ENSP00000438437:E296K;ENSP00000336836:E483K	ENSP00000336836:E483K	E	+	1	0	SLC22A12	64124937	1.000000	0.71417	0.983000	0.44433	0.236000	0.25371	5.810000	0.69179	1.943000	0.56356	0.561000	0.74099	GAG	.		0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	
MEN1	4221	hgsc.bcm.edu	37	11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:64572093delG	ENST00000337652.1	-	10	2064	c.1561delC	c.(1561-1563)cggfs	p.R521fs	MEN1_ENST00000377313.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.R461fs|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Frame_Shift_Del_p.R516fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.R481fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.R521fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Frame_Shift_Del_p.R521fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	521					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGAGGCTTCCGGGGGGGTCCT	0.716			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.R521fs	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	3	Insertion - Frameshift(3)	parathyroid(2)|large_intestine(1)	c.1561delC	GRCh37	CD972318|CM080439	MEN1	D|M		.						14.0	15.0	15.0					11																	64572093		2198	4290	6488	SO:0001589	frameshift_variant	4221	exon10	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	GCTTCCGGGGGGG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1561delC	11.37:g.64572093delG	ENSP00000337088:p.Arg521fs	2	0		18	17	NM_130800	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	CCDS8083.1																																																																																			.		0.716	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
POLA2	23649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65034978	65034978	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:65034978C>T	ENST00000265465.3	+	3	766	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	79					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GAAAGCCAGGCATAGTACCTG	0.408																																					p.H79Y		.											.	POLA2-227	0			c.C235T						.						161.0	144.0	150.0					11																	65034978		2201	4297	6498	SO:0001583	missense	23649	exon3			GCCAGGCATAGTA	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.235C>T	11.37:g.65034978C>T	ENSP00000265465:p.His79Tyr	100	0		58	48	NM_002689	0	0	1	1	0	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860393	0.32884	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.22539	1.95	5.54	4.63	0.57726	DNA polymerase alpha, subunit B N-terminal (1);	0.670571	0.15102	N	0.280460	T	0.22205	0.0535	L	0.47716	1.5	0.29388	N	0.862803	B;B	0.29378	0.09;0.243	B;B	0.34536	0.099;0.185	T	0.13072	-1.0523	10	0.46703	T	0.11	-1.4023	10.1407	0.42734	0.0:0.9081:0.0:0.0919	.	39;79	E9PIQ6;Q14181	.;DPOA2_HUMAN	Y	79;39	ENSP00000265465:H79Y	ENSP00000265465:H79Y	H	+	1	0	POLA2	64791554	0.001000	0.12720	0.006000	0.13384	0.184000	0.23303	0.948000	0.29096	1.334000	0.45468	0.313000	0.20887	CAT	.		0.408	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689	
PELI3	246330	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	66243098	66243098	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:66243098C>T	ENST00000320740.7	+	8	1030	c.870C>T	c.(868-870)gaC>gaT	p.D290D	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.D266D|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	290					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGCTGCAGGACGGCTCTCTCA	0.667																																					p.D290D		.											.	PELI3-91	0			c.C870T						.						46.0	45.0	46.0					11																	66243098		2189	4280	6469	SO:0001819	synonymous_variant	246330	exon8			GCAGGACGGCTCT	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.870C>T	11.37:g.66243098C>T		106	0		238	19	NM_145065	0	0	1	1	0	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	CCDS31615.1																																																																																			.		0.667	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065	
NUMA1	4926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	71718457	71718457	+	Silent	SNP	G	G	A	rs575875975		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:71718457G>A	ENST00000393695.3	-	21	5572	c.5241C>T	c.(5239-5241)gaC>gaT	p.D1747D	NUMA1_ENST00000358965.6_Silent_p.D1733D|NUMA1_ENST00000351960.6_Silent_p.D611D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGCTGGTGCCGTCTGGCTGGG	0.567			T	RARA	APL								G|||	1	0.000199681	0.0	0.0	5008	,	,		19052	0.0		0.0	False		,,,				2504	0.001				p.D1747D		.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1-633	0			c.C5241T						.						40.0	41.0	41.0					11																	71718457		2200	4293	6493	SO:0001819	synonymous_variant	4926	exon21			GGTGCCGTCTGGC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5241C>T	11.37:g.71718457G>A		68	0		54	52	NM_006185	0	0	5	51	46		Silent	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889075	0.17540	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.58	-0.366	0.12545	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45425	-0.9262	4	.	.	.	.	8.1495	0.31132	0.6282:0.0:0.3718:0.0	.	.	.	.	M	596	.	.	T	-	2	0	NUMA1	71396105	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	0.937000	0.28951	-0.160000	0.11002	-0.367000	0.07326	ACG	.		0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
PHOX2A	401	hgsc.bcm.edu	37	11	71951242	71951242	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:71951242C>T	ENST00000298231.5	-	3	577	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	136					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAACCAGACCTGCGGGCAC	0.716																																					p.V136I		.											.	PHOX2A-90	0			c.G406A						.						2.0	2.0	2.0					11																	71951242		1668	3437	5105	SO:0001630	splice_region_variant	401	exon3			ACCAGACCTGCGG	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.406-1G>A	11.37:g.71951242C>T		0	0		8	6	NM_005169	0	0	0	0	0	A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	c	35	5.526224	0.96431	.	.	ENSG00000165462	ENST00000298231	D	0.96459	-4.02	4.46	4.46	0.54185	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.45361	D	0.000374	D	0.96225	0.8769	L	0.39020	1.185	0.80722	D	1	B	0.34103	0.437	P	0.51016	0.656	D	0.96672	0.9497	10	0.66056	D	0.02	.	16.071	0.80936	0.0:1.0:0.0:0.0	.	136	O14813	PHX2A_HUMAN	I	136	ENSP00000298231:V136I	ENSP00000298231:V136I	V	-	1	0	PHOX2A	71628890	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.522000	0.81844	2.177000	0.69029	0.400000	0.26472	GTC	.		0.716	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169	Missense_Mutation
RPS3	6188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	75115215	75115215	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:75115215G>A	ENST00000531188.1	+	5	564	c.502G>A	c.(502-504)Gtt>Att	p.V168I	RPS3_ENST00000527446.1_Missense_Mutation_p.V168I|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000278572.6_Missense_Mutation_p.V184I|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000526608.1_Missense_Mutation_p.V156I|RPS3_ENST00000524851.1_Missense_Mutation_p.V168I	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	168					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TAACTACTACGTTGACACTGC	0.522																																					p.V184I		.											.	RPS3-90	0			c.G550A						.						89.0	74.0	79.0					11																	75115215		2200	4293	6493	SO:0001583	missense	6188	exon5			TACTACGTTGACA		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.502G>A	11.37:g.75115215G>A	ENSP00000434643:p.Val168Ile	175	0		179	159	NM_001260506	0	0	70	925	855	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.275525	0.23307	.	.	ENSG00000149273	ENST00000531188;ENST00000422465;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.	.	.	5.73	4.82	0.62117	Ribosomal protein S3, conserved site (1);Ribosomal protein S3, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.11756	0.17	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.16453	-1.0402	9	0.25106	T	0.35	-13.6846	11.7951	0.52096	0.084:0.0:0.916:0.0	.	168	P23396	RS3_HUMAN	I	168;42;184;168;156;168	.	ENSP00000278572:V184I	V	+	1	0	RPS3	74792863	1.000000	0.71417	0.914000	0.36105	0.530000	0.34684	8.018000	0.88722	2.724000	0.93272	0.645000	0.84053	GTT	.		0.522	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005	
MYO7A	4647	bcgsc.ca	37	11	76912590	76912590	+	Silent	SNP	C	C	T	rs80033599	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:76912590C>T	ENST00000409709.3	+	36	5222	c.4950C>T	c.(4948-4950)aaC>aaT	p.N1650N	MYO7A_ENST00000458637.2_Silent_p.N1612N|MYO7A_ENST00000409619.2_Silent_p.N1601N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1650	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTGGGCCAACGGCATCAATG	0.602													C|||	101	0.0201677	0.0756	0.0	5008	,	,		17776	0.0		0.001	False		,,,				2504	0.0				p.N1650N		.											.	MYO7A-138	0			c.C4950T						.	C	,	266,4068		9,248,1910	75.0	81.0	79.0		4950,4836	-7.5	0.2	11	dbSNP_131	79	2,8490		0,2,4244	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	9,250,6154	TT,TC,CC		0.0236,6.1375,2.0895	,	1650/2216,1612/2176	76912590	268,12558	2167	4246	6413	SO:0001819	synonymous_variant	4647	exon36			GGCCAACGGCATC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4950C>T	11.37:g.76912590C>T		228	0		233	9	NM_000260	0	0	0	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			C|0.986;T|0.014		0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
INTS4	92105	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	77614597	77614597	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:77614597C>T	ENST00000534064.1	-	17	2120	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.A71T	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	696					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTTTCGCTGCTGCTGAGGCC	0.478																																					p.A696T		.											.	INTS4-92	0			c.G2086A						.						66.0	56.0	60.0					11																	77614597		2200	4292	6492	SO:0001583	missense	92105	exon17			TCGCTGCTGCTGA	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2086G>A	11.37:g.77614597C>T	ENSP00000434466:p.Ala696Thr	303	3		279	101	NM_033547	0	0	0	0	0	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180645	0.78677	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.73321	0.3572	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.68273	-0.5452	9	0.17832	T	0.49	-7.4779	17.1532	0.86783	0.0:1.0:0.0:0.0	.	696	Q96HW7	INT4_HUMAN	T	696;71	.	ENSP00000434466:A696T	A	-	1	0	INTS4	77292245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.267000	0.72546	2.447000	0.82792	0.585000	0.79938	GCA	.		0.478	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	
KCTD21	283219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	77885166	77885166	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552																																					p.N145N		.											.	KCTD21-69	0			c.C435T						.						143.0	123.0	130.0					11																	77885166		2200	4292	6492	SO:0001819	synonymous_variant	283219	exon2			GTTGGCGTTGAAG	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.435C>T	11.37:g.77885166G>A		131	0		81	68	NM_001029859	0	0	0	0	0	B4DTR0	Silent	SNP	ENST00000340067.3	37	CCDS31645.1																																																																																			.		0.552	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859	
CCDC83	220047	broad.mit.edu	37	11	85597253	85597253	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:85597253G>A	ENST00000342404.3	+	5	570	c.354G>A	c.(352-354)atG>atA	p.M118I	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.M118I|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	118										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATATGCGCATGCAAATAAGTA	0.343																																					p.M118I		.											.	CCDC83-91	0			c.G354A						.						64.0	58.0	60.0					11																	85597253		2203	4299	6502	SO:0001583	missense	220047	exon5			GCGCATGCAAATA	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.354G>A	11.37:g.85597253G>A	ENSP00000344512:p.Met118Ile	107	0		77	5	NM_173556	0	0	0	0	0	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.079922	0.00375	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.40756	1.02;1.04	5.26	-0.43	0.12299	.	1.116970	0.06567	N	0.747889	T	0.16938	0.0407	N	0.02736	-0.51	0.20873	N	0.999834	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20405	-1.0276	9	.	.	.	0.7893	4.9854	0.14187	0.442:0.3034:0.2546:0.0	.	118;118	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	I	118	ENSP00000280245:M118I;ENSP00000344512:M118I	.	M	+	3	0	CCDC83	85274901	0.004000	0.15560	0.179000	0.23059	0.008000	0.06430	-0.157000	0.10085	-0.439000	0.07222	-0.827000	0.03088	ATG	.		0.343	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
SLC36A4	120103	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92881964	92881964	+	Silent	SNP	G	G	A	rs267603248		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:92881964G>A	ENST00000326402.4	-	11	1384	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	SLC36A4_ENST00000529184.1_Silent_p.F283F	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	418					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCTCCAACGAAGGAAATCA	0.363																																					p.F418F		.											.	SLC36A4-93	0			c.C1254T						.						60.0	64.0	62.0					11																	92881964		2200	4297	6497	SO:0001819	synonymous_variant	120103	exon11			TCCAACGAAGGAA	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1254C>T	11.37:g.92881964G>A		207	2		150	141	NM_152313	0	0	0	1	1	Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	CCDS8291.1																																																																																			.		0.363	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
HEPHL1	341208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	93826774	93826774	+	Missense_Mutation	SNP	G	G	A	rs200108606	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:93826774G>A	ENST00000315765.9	+	13	2410	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	801	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCAAAGCCCGACCACCACGA	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15916	0.0		0.0	False		,,,				2504	0.0				p.R801Q		.											.	HEPHL1-71	0			c.G2402A						.						126.0	122.0	123.0					11																	93826774		1941	4145	6086	SO:0001583	missense	341208	exon13			AAGCCCGACCACC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2402G>A	11.37:g.93826774G>A	ENSP00000313699:p.Arg801Gln	226	0		175	9	NM_001098672	0	0	0	0	0	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.3	4.726812	0.89390	.	.	ENSG00000181333	ENST00000315765	D	0.99098	-5.42	5.68	4.77	0.60923	Cupredoxin (2);	0.106321	0.64402	D	0.000013	D	0.98982	0.9653	M	0.64676	1.99	0.34502	D	0.706127	D	0.89917	1.0	D	0.79108	0.992	D	0.99972	1.2061	10	0.51188	T	0.08	.	14.9178	0.70812	0.069:0.0:0.931:0.0	.	801	Q6MZM0	HPHL1_HUMAN	Q	801	ENSP00000313699:R801Q	ENSP00000313699:R801Q	R	+	2	0	HEPHL1	93466422	0.998000	0.40836	0.483000	0.27378	0.952000	0.60782	5.780000	0.68956	1.413000	0.46997	0.549000	0.68633	CGA	G|0.999;A|0.000		0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
FUT4	2526	hgsc.bcm.edu	37	11	94278062	94278062	+	Missense_Mutation	SNP	A	A	G	rs2230273	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:94278062A>G	ENST00000358752.2	+	1	1046	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	255			I -> V (in dbSNP:rs2230273).		carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCTGGGGCATCCAGGCGCA	0.726													G|||	517	0.103235	0.32	0.0317	5008	,	,		9733	0.0139		0.0139	False		,,,				2504	0.045				p.I255V		.											.	FUT4-91	0			c.A763G						.	G	VAL/ILE	801,3091		86,629,1231	7.0	8.0	8.0		763	2.0	0.0	11	dbSNP_98	8	62,7852		1,60,3896	yes	missense	FUT4	NM_002033.3	29	87,689,5127	GG,GA,AA		0.7834,20.5807,7.3098	benign	255/531	94278062	863,10943	1946	3957	5903	SO:0001583	missense	2526	exon1			TGGGGCATCCAGG		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.763A>G	11.37:g.94278062A>G	ENSP00000351602:p.Ile255Val	0	0		18	16	NM_002033	0	0	0	0	0	B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	173	0.07921245421245421	148	0.3008130081300813	12	0.03314917127071823	5	0.008741258741258742	8	0.010554089709762533	g	0.006	-2.069712	0.00382	0.205807	0.007834	ENSG00000196371	ENST00000358752	T	0.30182	1.54	4.0	2.01	0.26516	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	8	0.02654	T	1	.	6.5473	0.22412	0.3539:0.0:0.6461:0.0	rs2230273;rs2230273	255	P22083	FUT4_HUMAN	V	255	ENSP00000351602:I255V	ENSP00000351602:I255V	I	+	1	0	FUT4	93917710	0.343000	0.24818	0.012000	0.15200	0.047000	0.14425	1.265000	0.33027	0.061000	0.16311	-0.374000	0.07098	ATC	A|0.910;G|0.090		0.726	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033	
POU2AF1	5450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	111229514	111229514	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:111229514G>A	ENST00000393067.3	-	2	660	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	49					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		AACTCTCACCGCCGTAGGTGC	0.562			T	BCL6	NHL																																p.A49V		.		Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	.	POU2AF1-658	0			c.C146T						.						80.0	50.0	60.0					11																	111229514		2196	4292	6488	SO:0001630	splice_region_variant	5450	exon2			CTCACCGCCGTAG		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.147+1C>T	11.37:g.111229514G>A		51	0		74	35	NM_006235	0	0	0	0	0	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368631	0.42003	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.34859	1.34;1.34	4.31	4.31	0.51392	.	0.140097	0.45867	D	0.000328	T	0.29914	0.0748	L	0.38838	1.175	0.38973	D	0.958783	P	0.43750	0.816	B	0.41374	0.355	T	0.09487	-1.0672	10	0.23302	T	0.38	-7.4748	14.732	0.69388	0.0:0.0:1.0:0.0	.	49	Q16633	OBF1_HUMAN	V	49;51	ENSP00000376786:A49V;ENSP00000433527:A51V	ENSP00000376786:A49V	A	-	2	0	POU2AF1	110734724	1.000000	0.71417	0.996000	0.52242	0.224000	0.24922	6.237000	0.72345	2.248000	0.74166	0.305000	0.20034	GCG	.		0.562	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	Missense_Mutation
HTR3A	3359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	113860305	113860305	+	Silent	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:113860305G>T	ENST00000504030.2	+	9	1702	c.1257G>T	c.(1255-1257)ctG>ctT	p.L419L	HTR3A_ENST00000355556.2_Silent_p.L457L|HTR3A_ENST00000375498.2_Silent_p.L425L|HTR3A_ENST00000506841.2_Silent_p.L451L|HTR3A_ENST00000535865.1_Silent_p.L163L|HTR3A_ENST00000299961.5_Silent_p.L404L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	419	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GTGGGCTGCTGCAGGAGCTGT	0.662																																					p.L457L		.											.	HTR3A-90	0			c.G1371T						.						63.0	68.0	66.0					11																	113860305		2201	4296	6497	SO:0001819	synonymous_variant	3359	exon8			GCTGCTGCAGGAG	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1257G>T	11.37:g.113860305G>T		27	0		49	5	NM_213621	0	0	0	0	0	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37																																																																																				.		0.662	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
NXPE4	54827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	114453402	114453402	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:114453402C>T	ENST00000375478.3	-	3	618	c.438G>A	c.(436-438)gcG>gcA	p.A146A	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	146						extracellular vesicular exosome (GO:0070062)											CTGCCATCAGCGCTGGGGAAG	0.592																																					p.A146A		.											.	.	0			c.G438A						.						69.0	75.0	73.0					11																	114453402		2201	4296	6497	SO:0001819	synonymous_variant	54827	exon3			CATCAGCGCTGGG	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.438G>A	11.37:g.114453402C>T		298	0		237	115	NM_001077639	0	0	0	0	0	Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																			.		0.592	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
TMPRSS4	56649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	117984057	117984057	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:117984057G>A	ENST00000437212.3	+	9	1031	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.V268M|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.V271M|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.V126M|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.V233M			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	273	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ATCCCTGGCTGTGGCCAAGAT	0.527																																					p.V273M		.											.	TMPRSS4-90	0			c.G817A						.						180.0	159.0	166.0					11																	117984057		2200	4296	6496	SO:0001583	missense	56649	exon9			CTGGCTGTGGCCA	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.817G>A	11.37:g.117984057G>A	ENSP00000416037:p.Val273Met	233	0		174	10	NM_019894	0	0	0	0	0	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306893	0.60305	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.21	4.26	0.50523	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.121540	0.36444	N	0.002595	D	0.85864	0.5796	H	0.95114	3.625	0.54753	D	0.999985	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.998	D;D;D;D;D	0.81914	0.989;0.98;0.991;0.995;0.97	D	0.89511	0.3771	10	0.87932	D	0	.	13.0626	0.59015	0.0:0.1608:0.8392:0.0	.	248;233;126;273;271	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	M	271;126;233;273;268	ENSP00000435184:V271M;ENSP00000428814:V126M;ENSP00000429209:V233M;ENSP00000416037:V273M;ENSP00000430547:V268M	ENSP00000416037:V273M	V	+	1	0	TMPRSS4	117489267	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	5.612000	0.67681	2.424000	0.82194	0.655000	0.94253	GTG	.		0.527	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
CD3G	917	hgsc.bcm.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0				p.K69fs		.											.	CD3G-90	0			c.205delA	GRCh37	CM983819	CD3G	M		.						100.0	97.0	98.0					11																	118220583		2200	4296	6496	SO:0001589	frameshift_variant	917	exon3			GAAGATAAAAAAA	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs	175	1		122	97	NM_000073	0	0	0	0	0	Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	CCDS8395.1																																																																																			.		0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073	
PHLDB1	23187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118495742	118495742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118495742C>T	ENST00000361417.2	+	6	859	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R150*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	150										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCAGGGGGCCGAGCCCCTGG	0.617																																					p.R150X		.											.	PHLDB1-90	0			c.C448T						.						82.0	80.0	81.0					11																	118495742		2200	4295	6495	SO:0001587	stop_gained	23187	exon5			GGGGGCCGAGCCC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.448C>T	11.37:g.118495742C>T	ENSP00000354498:p.Arg150*	82	0		58	24	NM_001144758	0	0	1	1	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	38	7.077142	0.98048	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	.	.	.	5.64	4.64	0.57946	.	0.627003	0.15913	N	0.238493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.9686	15.5758	0.76380	0.2065:0.7934:0.0:0.0	.	.	.	.	X	150	.	ENSP00000348359:R150X	R	+	1	2	PHLDB1	118000952	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	1.186000	0.32078	2.643000	0.89663	0.561000	0.74099	CGA	.		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
DDX6	1656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118635947	118635947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118635947G>A	ENST00000526070.2	-	6	976	c.616C>T	c.(616-618)Cga>Tga	p.R206*	DDX6_ENST00000264018.4_Nonsense_Mutation_p.R206*|DDX6_ENST00000534980.1_Nonsense_Mutation_p.R206*	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGTCATCTCGTAAATTGGTT	0.398			T	IGH@	B-NHL																																p.R206X		.		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	DDX6-659	0			c.C616T						.						352.0	342.0	345.0					11																	118635947		1888	4110	5998	SO:0001587	stop_gained	1656	exon6			CATCTCGTAAATT	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.616C>T	11.37:g.118635947G>A	ENSP00000433704:p.Arg206*	126	0		91	36	NM_004397	0	0	1	2	1	Q5D048	Nonsense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	G	39	7.621654	0.98393	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	.	.	.	5.7	4.77	0.60923	.	0.049056	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.363	0.60667	0.0:0.0:0.7135:0.2865	.	.	.	.	X	206	.	ENSP00000264018:R206X	R	-	1	2	DDX6	118141157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.473000	0.66774	1.365000	0.46057	0.644000	0.83932	CGA	.		0.398	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
CXCR5	643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118764716	118764716	+	Missense_Mutation	SNP	G	G	A	rs377218103		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118764716G>A	ENST00000292174.4	+	2	639	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	155					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGTCCACGCCGTCCATGCCTA	0.607																																					p.V155I		.											.	CXCR5-721	0			c.G463A						.	G	ILE/VAL,ILE/VAL	0,4400		0,0,2200	63.0	52.0	55.0		463,328	4.0	0.7	11		55	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense	CXCR5	NM_001716.4,NM_032966.2	29,29	0,2,6493	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	155/373,110/328	118764716	2,12988	2200	4295	6495	SO:0001583	missense	643	exon2			CACGCCGTCCATG	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.463G>A	11.37:g.118764716G>A	ENSP00000292174:p.Val155Ile	58	0		125	62	NM_001716	0	0	0	0	0	Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	0.665	-0.804206	0.02819	0.0	2.33E-4	ENSG00000160683	ENST00000292174	T	0.36699	1.24	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.139426	0.46758	D	0.000268	T	0.20981	0.0505	L	0.31371	0.925	0.80722	D	1	B	0.33528	0.416	B	0.29267	0.1	T	0.10268	-1.0637	10	0.59425	D	0.04	.	3.7777	0.08667	0.2055:0.2233:0.5713:0.0	.	155	P32302	CXCR5_HUMAN	I	155	ENSP00000292174:V155I	ENSP00000292174:V155I	V	+	1	0	CXCR5	118269926	0.995000	0.38212	0.731000	0.30826	0.042000	0.13812	2.808000	0.47963	2.029000	0.59856	0.313000	0.20887	GTC	.		0.607	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716	
POU2F3	25833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	120175859	120175859	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:120175859G>A	ENST00000543440.2	+	7	715	c.565G>A	c.(565-567)Gag>Aag	p.E189K	POU2F3_ENST00000260264.4_Missense_Mutation_p.E191K	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	189	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CAGTGACCTCGAGGAGCTGGA	0.552																																					p.E191K		.											.	POU2F3-92	0			c.G571A						.						86.0	90.0	88.0					11																	120175859		2203	4299	6502	SO:0001583	missense	25833	exon7			GACCTCGAGGAGC	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.565G>A	11.37:g.120175859G>A	ENSP00000441687:p.Glu189Lys	117	0		111	6	NM_001244682	0	0	0	0	0	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768202	0.90020	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620	D;D;D	0.83335	-1.71;-1.71;-1.71	6.17	6.17	0.99709	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.86432	0.1761	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	143;189	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	K	191;189;143	ENSP00000441687:E191K;ENSP00000260264:E189K;ENSP00000435738:E143K	ENSP00000260264:E189K	E	+	1	0	POU2F3	119681069	1.000000	0.71417	0.988000	0.46212	0.216000	0.24613	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	.		0.552	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
GRAMD1B	57476	broad.mit.edu	37	11	123483504	123483504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:123483504delG	ENST00000529750.1	+	14	1853	c.1526delG	c.(1525-1527)tggfs	p.W509fs	GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.W516fs|GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.W509fs|GRAMD1B_ENST00000450171.2_Frame_Shift_Del_p.W200fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	509						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AAACAGCCCTGGGGGTTAGTG	0.552																																					p.W509fs		.											.	GRAMD1B-69	0			c.1526delG						.						47.0	48.0	48.0					11																	123483504		1913	4129	6042	SO:0001589	frameshift_variant	57476	exon14			AGCCCTGGGGGTT	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1526delG	11.37:g.123483504delG	ENSP00000436500:p.Trp509fs	133	0		118	10	NM_020716	0	0	0	0	0	Q6UW85|Q9ULL9	Frame_Shift_Del	DEL	ENST00000529750.1	37	CCDS53720.1																																																																																			.		0.552	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
VWA5A	4013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	123993793	123993793	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:123993793T>C	ENST00000456829.2	+	8	1138	c.887T>C	c.(886-888)aTg>aCg	p.M296T	VWA5A_ENST00000392748.1_Missense_Mutation_p.M296T|VWA5A_ENST00000360334.4_Missense_Mutation_p.M296T|VWA5A_ENST00000361352.5_Missense_Mutation_p.M296T|VWA5A_ENST00000392744.4_Missense_Mutation_p.M312T|VWA5A_ENST00000449321.1_Missense_Mutation_p.M296T	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	296	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAGAGCCCCATGAGTAGCCAG	0.463																																					p.M296T		.											.	VWA5A-92	0			c.T887C						.						76.0	68.0	71.0					11																	123993793		2201	4299	6500	SO:0001583	missense	4013	exon7			GCCCCATGAGTAG	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.887T>C	11.37:g.123993793T>C	ENSP00000407726:p.Met296Thr	39	0		36	34	NM_014622	0	0	0	2	2	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235837	0.39498	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.96	5.96	0.96718	von Willebrand factor, type A (3);	0.458728	0.24988	N	0.034016	T	0.15089	0.0364	M	0.76838	2.35	0.24107	N	0.995851	B;B	0.24258	0.1;0.1	B;B	0.32090	0.06;0.14	T	0.25433	-1.0132	10	0.16420	T	0.52	-21.3325	14.3766	0.66881	0.0:0.0:0.0:1.0	.	312;296	B4DHS6;O00534	.;VMA5A_HUMAN	T	296;296;296;296;296;312	ENSP00000407726:M296T;ENSP00000353485:M296T;ENSP00000376504:M296T;ENSP00000355070:M296T;ENSP00000404683:M296T;ENSP00000376501:M312T	ENSP00000353485:M296T	M	+	2	0	VWA5A	123499003	0.920000	0.31207	0.037000	0.18230	0.049000	0.14656	2.234000	0.43035	2.283000	0.76528	0.533000	0.62120	ATG	.		0.463	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
OR8D2	283160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	124189576	124189576	+	Missense_Mutation	SNP	G	G	A	rs151287996		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:124189576G>A	ENST00000357438.2	-	1	608	c.518C>T	c.(517-519)aCg>aTg	p.T173M		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATGACTGACCGTATGAGACCT	0.438																																					p.T173M		.											.	OR8D2-113	0			c.C518T						.	G	MET/THR	1,4401	2.1+/-5.4	0,1,2200	109.0	100.0	103.0		518	-7.3	0.0	11	dbSNP_134	103	0,8598		0,0,4299	no	missense	OR8D2	NM_001002918.1	81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	173/312	124189576	1,12999	2201	4299	6500	SO:0001583	missense	283160	exon1			CTGACCGTATGAG	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.518C>T	11.37:g.124189576G>A	ENSP00000350022:p.Thr173Met	113	0		74	62	NM_001002918	0	0	0	0	0	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	14.73	2.623695	0.46840	2.27E-4	0.0	ENSG00000197263	ENST00000357438	T	0.00107	8.72	3.73	-7.26	0.01466	GPCR, rhodopsin-like superfamily (1);	0.795153	0.10883	N	0.623622	T	0.00073	0.0002	L	0.31804	0.96	0.09310	N	1	P	0.41524	0.753	B	0.36418	0.224	T	0.32640	-0.9899	10	0.66056	D	0.02	.	8.19	0.31363	0.4438:0.1166:0.4396:0.0	.	173	Q9GZM6	OR8D2_HUMAN	M	173	ENSP00000350022:T173M	ENSP00000350022:T173M	T	-	2	0	OR8D2	123694786	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	-0.268000	0.08607	-1.460000	0.01911	-0.488000	0.04728	ACG	G|1.000;A|0.000		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918	
PKNOX2	63876	broad.mit.edu	37	11	125255595	125255595	+	Missense_Mutation	SNP	G	G	A	rs373672970		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:125255595G>A	ENST00000298282.9	+	6	647	c.376G>A	c.(376-378)Gat>Aat	p.D126N	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D62N|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	126					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CTTCTTCAGCGATGACCCAGA	0.542																																					p.D126N		.											.	PKNOX2-93	0			c.G376A						.	G	ASN/ASP	0,4048		0,0,2024	96.0	95.0	96.0		376	5.5	1.0	11		96	1,8397		0,1,4198	no	missense	PKNOX2	NM_022062.2	23	0,1,6222	AA,AG,GG		0.0119,0.0,0.0080	benign	126/473	125255595	1,12445	2024	4199	6223	SO:0001583	missense	63876	exon6			TTCAGCGATGACC	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.376G>A	11.37:g.125255595G>A	ENSP00000298282:p.Asp126Asn	171	1		144	4	NM_022062	0	0	0	0	0	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574148	0.65878	0.0	1.19E-4	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.51	5.51	0.81932	.	0.098166	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05351	-0.065	0.80722	D	1	B;B	0.27229	0.172;0.02	B;B	0.27170	0.077;0.006	T	0.09015	-1.0694	10	0.18276	T	0.48	-14.5534	19.4198	0.94716	0.0:0.0:1.0:0.0	.	62;126	F5GZ15;Q96KN3	.;PKNX2_HUMAN	N	97;97;126;62;114	ENSP00000434732:D97N;ENSP00000433971:D97N;ENSP00000298282:D126N;ENSP00000441470:D62N	ENSP00000298282:D126N	D	+	1	0	PKNOX2	124760805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GAT	.		0.542	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3		
WNT5B	81029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	1742040	1742040	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:1742040C>T	ENST00000397196.2	+	3	529	c.297C>T	c.(295-297)aaC>aaT	p.N99N	WNT5B_ENST00000310594.3_Silent_p.N99N|WNT5B_ENST00000542408.1_Silent_p.N99N|WNT5B_ENST00000537031.1_Silent_p.N99N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	99					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CAGCGGACAACGCATCTGTCT	0.557																																					p.N99N		.											.	WNT5B-562	0			c.C297T						.						62.0	63.0	62.0					12																	1742040		2203	4300	6503	SO:0001819	synonymous_variant	81029	exon3			GGACAACGCATCT	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.297C>T	12.37:g.1742040C>T		86	0		154	34	NM_032642	0	0	0	0	0	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	CCDS8510.1																																																																																			.		0.557	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2		
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	1988971	1988971	+	Splice_Site	SNP	G	G	A	rs376351407		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:1988971G>A	ENST00000382722.5	-	14	1924	c.1562C>T	c.(1561-1563)aCg>aTg	p.T521M	CACNA2D4_ENST00000588077.1_Splice_Site_p.T457M|CACNA2D4_ENST00000585732.1_Splice_Site_p.T406M|CACNA2D4_ENST00000587995.1_Splice_Site_p.T521M|CACNA2D4_ENST00000585708.1_Splice_Site_p.T457M|CACNA2D4_ENST00000586184.1_Splice_Site_p.T521M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	521	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCCACTCACCGTTTCGTTCTT	0.567																																					p.T521M	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C1562T						.	G	MET/THR	4,4070		0,4,2033	45.0	50.0	48.0		1562	4.9	0.3	12		48	0,8336		0,0,4168	no	missense-near-splice	CACNA2D4	NM_172364.4	81	0,4,6201	AA,AG,GG		0.0,0.0982,0.0322	probably-damaging	521/1138	1988971	4,12406	2037	4168	6205	SO:0001630	splice_region_variant	93589	exon14			CTCACCGTTTCGT	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1563+1C>T	12.37:g.1988971G>A		87	0		151	10	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701850	0.96812	9.82E-4	0.0	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08896	3.04	4.86	4.86	0.63082	Cache (1);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.97110	0.889;1.0	T	0.03524	-1.1028	10	0.87932	D	0	.	18.36	0.90372	0.0:0.0:1.0:0.0	.	521;521	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	457;521;521	ENSP00000372169:T521M	ENSP00000280663:T521M	T	-	2	0	CACNA2D4	1859232	1.000000	0.71417	0.267000	0.24556	0.809000	0.45718	9.784000	0.99039	2.381000	0.81170	0.563000	0.77884	ACG	.		0.567	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		Missense_Mutation
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	2019113	2019113	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:2019113C>T	ENST00000382722.5	-	4	807	c.445G>A	c.(445-447)Gag>Aag	p.E149K	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E85K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E149K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E149K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E85K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E149K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	149					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCGGCCTCCTCGGCAGCTTCC	0.562																																					p.E149K	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.G445A						.						46.0	50.0	49.0					12																	2019113		1925	4132	6057	SO:0001583	missense	93589	exon4			CCTCCTCGGCAGC	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.445G>A	12.37:g.2019113C>T	ENSP00000372169:p.Glu149Lys	76	0		118	60	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243808	0.79912	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.19938	2.11	5.54	5.54	0.83059	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.91612	3.225	0.35161	D	0.770692	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.948	T	0.73369	-0.4004	10	0.87932	D	0	.	17.2729	0.87107	0.0:1.0:0.0:0.0	.	149;149	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	K	85;149;149	ENSP00000372169:E149K	ENSP00000280663:E149K	E	-	1	0	CACNA2D4	1889374	1.000000	0.71417	0.983000	0.44433	0.351000	0.29236	6.684000	0.74538	2.604000	0.88044	0.561000	0.74099	GAG	.		0.562	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
TSPAN9	10867	bcgsc.ca	37	12	3390495	3390495	+	Splice_Site	SNP	G	G	A	rs371384336		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:3390495G>A	ENST00000011898.5	+	7	725	c.564G>A	c.(562-564)acG>acA	p.T188T	TSPAN9_ENST00000537971.1_Splice_Site_p.T188T|TSPAN9_ENST00000407263.1_Splice_Site_p.T188T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	188						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGTGGAGAACGGTGAGGCTGG	0.667																																					p.T188T		.											.	TSPAN9-91	0			c.G564A						.						21.0	17.0	19.0					12																	3390495		2038	3868	5906	SO:0001630	splice_region_variant	10867	exon7			GAGAACGGTGAGG	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.564+1G>A	12.37:g.3390495G>A		41	0		129	6	NM_006675	0	0	0	0	0	D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	CCDS8520.1																																																																																			.		0.667	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	Silent
ANO2	57101	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	5724430	5724430	+	Missense_Mutation	SNP	C	C	T	rs373395051		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:5724430C>T	ENST00000356134.5	-	19	1924	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	ANO2_ENST00000327087.8_Missense_Mutation_p.R617H|ANO2_ENST00000546188.1_Missense_Mutation_p.R618H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	622					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAGGATCAGGCGCTCTTCAAA	0.458																																					p.R617H		.											.	ANO2-139	0			c.G1850A						.	C	HIS/ARG	0,3922		0,0,1961	78.0	77.0	77.0		1850	4.6	1.0	12		77	1,8335		0,1,4167	no	missense	ANO2	NM_020373.2	29	0,1,6128	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	617/999	5724430	1,12257	1961	4168	6129	SO:0001583	missense	57101	exon18			ATCAGGCGCTCTT	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1853G>A	12.37:g.5724430C>T	ENSP00000348453:p.Arg618His	148	1		187	34	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.904485	0.92035	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.64	4.64	0.57946	.	0.102645	0.64402	D	0.000004	T	0.55784	0.1942	N	0.25957	0.775	0.80722	D	1	D	0.53745	0.962	P	0.47044	0.535	T	0.60449	-0.7261	10	0.52906	T	0.07	.	15.4309	0.75099	0.0:1.0:0.0:0.0	.	617	Q9NQ90-3	.	H	617;618;618;622;177	ENSP00000314048:R617H;ENSP00000348453:R618H;ENSP00000440981:R618H;ENSP00000443813:R177H	ENSP00000314048:R617H	R	-	2	0	ANO2	5594691	0.971000	0.33674	1.000000	0.80357	0.990000	0.78478	7.400000	0.79949	2.578000	0.87016	0.650000	0.86243	CGC	.		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
GPR162	27239	hgsc.bcm.edu;broad.mit.edu	37	12	6934685	6934685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:6934685delC	ENST00000311268.3	+	3	1691	c.904delC	c.(904-906)cccfs	p.P303fs	GPR162_ENST00000428545.2_Frame_Shift_Del_p.P19fs|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_5'UTR|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGACTCGGCGCCCCCCTGGAT	0.667											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P302fs		.											.	GPR162-92	0			c.904delC						.						34.0	30.0	31.0					12																	6934685		2203	4300	6503	SO:0001589	frameshift_variant	27239	exon3			TCGGCGCCCCCCT	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.904delC	12.37:g.6934685delC	ENSP00000311528:p.Pro303fs	24	0	637	103	25	NM_019858	0	0	0	0	0	Q16664|Q59EH5|Q66K56	Frame_Shift_Del	DEL	ENST00000311268.3	37	CCDS8563.1																																																																																			.		0.667	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858	
C1R	715	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	7187965	7187965	+	Silent	SNP	C	C	T	rs147540938		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:7187965C>T	ENST00000542285.1	-	11	1982	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P				P00736	C1R_HUMAN	complement component 1, r subcomponent	663	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATCAGTGTTCGGGTCCCTTA	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				.		.											.	.	0			.						.	C		1,4175		0,1,2087	62.0	68.0	66.0		718	-8.0	0.0	12	dbSNP_134	66	0,8492		0,0,4246	no	coding-notMod3	C1R	NM_001733.4.dup		0,1,6333	TT,TC,CC		0.0,0.0239,0.0079			7187965	1,12667	2088	4246	6334	SO:0001819	synonymous_variant	715	.			AGTGTTCGGGTCC	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1833G>A	12.37:g.7187965C>T		157	0		203	52	.	0	0	701	979	278	A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37																																																																																				C|0.999;T|0.001		0.572	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
CLEC4A	50856	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	8290774	8290774	+	Missense_Mutation	SNP	G	G	A	rs200191238		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:8290774G>A	ENST00000229332.5	+	6	852	c.605G>A	c.(604-606)cGc>cAc	p.R202H	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R202H(2)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CCCAATGAGCGCTGCGTTGTG	0.443													g|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				p.R202H		.											.	CLEC4A-90	2	Substitution - Missense(2)	prostate(1)|endometrium(1)	c.G605A						.						137.0	117.0	124.0					12																	8290774		2203	4300	6503	SO:0001583	missense	50856	exon6			ATGAGCGCTGCGT	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.605G>A	12.37:g.8290774G>A	ENSP00000229332:p.Arg202His	266	0		338	21	NM_016184	0	0	3	3	0	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.463	1.093570	0.20471	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.98	-3.8	0.04307	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.09335	0.0230	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.25441	0.103;0.103;0.103;0.126	B;B;B;B	0.21708	0.021;0.021;0.021;0.036	T	0.31223	-0.9951	10	0.52906	T	0.07	.	5.4251	0.16421	0.6073:0.0:0.2394:0.1533	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	202;130;169;163	ENSP00000229332:R202H;ENSP00000344646:R130H;ENSP00000247243:R169H;ENSP00000353690:R163H	ENSP00000229332:R202H	R	+	2	0	CLEC4A	8182041	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.564000	0.02152	-0.812000	0.04363	0.585000	0.79938	CGC	G|0.999;A|0.000		0.443	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450	
DDX11	1663	broad.mit.edu;bcgsc.ca	37	12	31254784	31254784	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:31254784C>T	ENST00000407793.2	+	21	2321	c.2070C>T	c.(2068-2070)cgC>cgT	p.R690R	DDX11_ENST00000542838.1_Silent_p.R690R|DDX11_ENST00000228264.6_Silent_p.R664R|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000545668.1_Silent_p.R690R|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	690					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGTGGGTCGCATTCTCTGTA	0.602										Multiple Myeloma(12;0.14)																											p.R690R		.											.	DDX11-229	0			c.C2070T						.						151.0	149.0	150.0					12																	31254784		1946	4130	6076	SO:0001819	synonymous_variant	1663	exon21			GGGTCGCATTCTC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2070C>T	12.37:g.31254784C>T		150	0		269	10	NM_030653	0	0	12	12	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																			.		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
SLC2A13	114134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	40422282	40422282	+	Missense_Mutation	SNP	G	G	A	rs200980396		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:40422282G>A	ENST00000280871.4	-	3	796	c.746C>T	c.(745-747)gCg>gTg	p.A249V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A249V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	249					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTGTATAACCGCCGGAACTGC	0.413										HNSCC(50;0.14)																											p.A249V		.											.	SLC2A13-515	0			c.C746T						.						80.0	80.0	80.0					12																	40422282		2203	4300	6503	SO:0001583	missense	114134	exon3			ATAACCGCCGGAA	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.746C>T	12.37:g.40422282G>A	ENSP00000280871:p.Ala249Val	27	0		42	26	NM_052885	0	0	0	0	0	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538604	0.85917	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.78595	-1.19;-1.19	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.099066	0.64402	D	0.000001	D	0.90978	0.7163	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.937	D	0.92046	0.5644	10	0.66056	D	0.02	-18.5215	19.8499	0.96734	0.0:0.0:1.0:0.0	.	249;249	Q96QE2;E9PE47	MYCT_HUMAN;.	V	249	ENSP00000280871:A249V;ENSP00000370239:A249V	ENSP00000280871:A249V	A	-	2	0	SLC2A13	38708549	1.000000	0.71417	0.982000	0.44146	0.502000	0.33828	9.217000	0.95160	2.779000	0.95612	0.591000	0.81541	GCG	.		0.413	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
VDR	7421	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	48249477	48249477	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:48249477C>T	ENST00000395324.2	-	7	959	c.691G>A	c.(691-693)Gct>Act	p.A231T	VDR_ENST00000229022.3_Missense_Mutation_p.A231T|VDR_ENST00000549336.1_Missense_Mutation_p.A231T|VDR_ENST00000535672.1_Missense_Mutation_p.A199T|VDR_ENST00000550325.1_Missense_Mutation_p.A281T			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	231	Ligand-binding.|Vitamin D3 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)			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)	ACCAGGTCAGCCAGGTGGGGC	0.502																																					p.A281T		.											.	VDR-188	0			c.G841A						.						78.0	72.0	74.0					12																	48249477		2203	4300	6503	SO:0001583	missense	7421	exon7			GGTCAGCCAGGTG	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.691G>A	12.37:g.48249477C>T	ENSP00000378734:p.Ala231Thr	299	0		454	223	NM_001017536	0	0	0	0	0	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745486	0.89663	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.31	4.42	0.53409	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.168232	0.50627	D	0.000101	D	0.92577	0.7642	L	0.35341	1.055	0.58432	D	0.999995	P;P;P	0.48350	0.868;0.742;0.909	P;P;P	0.57283	0.817;0.732;0.58	D	0.89346	0.3657	10	0.02654	T	1	.	11.8586	0.52453	0.0:0.9145:0.0:0.0855	.	199;231;281	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	T	231;231;231;281;199;231	ENSP00000378734:A231T;ENSP00000229022:A231T;ENSP00000449573:A231T;ENSP00000447173:A281T;ENSP00000442145:A199T;ENSP00000448659:A231T	ENSP00000229022:A231T	A	-	1	0	VDR	46535744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.993000	0.70616	1.235000	0.43724	0.486000	0.48141	GCT	.		0.502	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1		
OR8S1	341568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	48921823	48921823	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:48921823G>A	ENST00000310194.1	+	2	1017	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	339						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T339T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCCGGTCACGCCTCAACCCC	0.662																																					p.T339T		.											.	OR8S1-69	1	Substitution - coding silent(1)	endometrium(1)	c.G1017A						.						17.0	19.0	18.0					12																	48921823		2203	4300	6503	SO:0001819	synonymous_variant	341568	exon2			GGTCACGCCTCAA		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1017G>A	12.37:g.48921823G>A		20	0		60	31	NM_001005203	0	0	0	0	0		Silent	SNP	ENST00000310194.1	37	CCDS31789.1																																																																																			.		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
WNT1	7471	hgsc.bcm.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49374348delG	ENST00000293549.3	+	3	536	c.500delG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					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.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.682																																					p.W167fs		.											.	WNT1-1083	1	Deletion - Frameshift(1)	large_intestine(1)	c.500delG						.						9.0	11.0	11.0					12																	49374348		2195	4281	6476	SO:0001589	frameshift_variant	7471	exon3			GGCACTGGGGGGG	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.500delG	12.37:g.49374348delG	ENSP00000293549:p.Trp167fs	4	0		110	33	NM_005430	0	0	0	0	0	Q5U0N2	Frame_Shift_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																			.		0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1		
KMT2D	8085	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-	rs572022239	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49434492delG	ENST00000301067.7	-	31	7060	c.7061delC	c.(7060-7062)cctfs	p.P2354fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2354	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P2084fs*30(1)									AGCCTGGGCAGGGGGTGGCTC	0.622																																					p.P2354fs		.											.	MLL2-612	1	Deletion - Frameshift(1)	large_intestine(1)	c.7061delC						.						25.0	31.0	29.0					12																	49434492		1901	4079	5980	SO:0001589	frameshift_variant	8085	exon31			TGGGCAGGGGGTG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7061delC	12.37:g.49434492delG	ENSP00000301067:p.Pro2354fs	47	0		109	52	NM_003482	0	0	0	0	0	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KCNH3	23416	hgsc.bcm.edu	37	12	49943990	49943990	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49943990G>A	ENST00000257981.6	+	10	2056	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	599					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCTGCGGCCCGCCTTC	0.667																																					p.R599Q		.											.	KCNH3-90	0			c.G1796A						.						39.0	38.0	38.0					12																	49943990		2203	4300	6503	SO:0001583	missense	23416	exon10			CCCTGCGGCCCGC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1796G>A	12.37:g.49943990G>A	ENSP00000257981:p.Arg599Gln	6	0		68	21	NM_012284	0	0	9	9	0	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666456	0.88251	.	.	ENSG00000135519	ENST00000257981	D	0.96554	-4.05	5.48	5.48	0.80851	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.44483	D	0.000455	D	0.92100	0.7496	N	0.26042	0.785	0.37131	D	0.901269	B	0.19073	0.033	B	0.24848	0.056	D	0.88959	0.3392	10	0.33940	T	0.23	.	10.6386	0.45579	0.0875:0.0:0.9125:0.0	.	599	Q9ULD8	KCNH3_HUMAN	Q	599	ENSP00000257981:R599Q	ENSP00000257981:R599Q	R	+	2	0	KCNH3	48230257	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.199000	0.51043	2.755000	0.94549	0.655000	0.94253	CGG	.		0.667	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	
GPR84	53831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	54757424	54757424	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:54757424G>A	ENST00000551809.1	-	1	847	c.212C>T	c.(211-213)aCg>aTg	p.T71M	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.T71M|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGAAGGAGCGTGCAGTAGAG	0.577																																					p.T71M		.											.	GPR84-523	0			c.C212T						.						189.0	166.0	174.0					12																	54757424		2203	4300	6503	SO:0001583	missense	53831	exon2			AGGAGCGTGCAGT	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.212C>T	12.37:g.54757424G>A	ENSP00000450310:p.Thr71Met	307	0		527	258	NM_020370	0	0	0	0	0	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647849	0.67358	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38722	1.12;1.12	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.45137	1.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.51076	-0.8751	10	0.36615	T	0.2	-23.9033	16.6417	0.85128	0.0:0.0:1.0:0.0	.	71	Q9NQS5	GPR84_HUMAN	M	71	ENSP00000267015:T71M;ENSP00000450310:T71M	ENSP00000267015:T71M	T	-	2	0	GPR84	53043691	0.999000	0.42202	0.953000	0.39169	0.517000	0.34286	4.705000	0.61838	2.602000	0.87976	0.555000	0.69702	ACG	.		0.577	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
PA2G4	5036	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56504465	56504465	+	Silent	SNP	G	G	A	rs145895424		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:56504465G>A	ENST00000303305.6	+	9	1250	c.831G>A	c.(829-831)ccG>ccA	p.P277P	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	277					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATGCCATGCCGTTTACTTTAA	0.443																																					p.P277P		.											.	PA2G4-68	0			c.G831A						.	G		1,4405	2.1+/-5.4	0,1,2202	71.0	64.0	66.0		831	-8.5	1.0	12	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PA2G4	NM_006191.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		277/395	56504465	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5036	exon9			CATGCCGTTTACT	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.831G>A	12.37:g.56504465G>A		120	1		162	79	NM_006191	0	0	2	2	0	O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																			G|1.000;A|0.000		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	
MYO1A	4640	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	rs141039063		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577																																					p.A509V		.											.	MYO1A-231	0			c.C1526T						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		1526	4.6	1.0	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense	4640	exon16			TTGCCCGCATAGT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1526C>T	12.37:g.57432600G>A	ENSP00000393392:p.Ala509Val	170	2		289	65	NM_005379	0	0	0	0	0	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG	G|1.000;A|0.000		0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
SHMT2	6472	ucsc.edu;bcgsc.ca	37	12	57624758	57624758	+	Missense_Mutation	SNP	G	G	A	rs376369904		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:57624758G>A	ENST00000328923.3	+	2	658	c.206G>A	c.(205-207)cGt>cAt	p.R69H	SHMT2_ENST00000553474.1_Missense_Mutation_p.R48H|SHMT2_ENST00000557487.1_Missense_Mutation_p.R69H|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.R48H|Y_RNA_ENST00000365197.1_RNA|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.R48H	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	69					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGGCAGTGTCGTGGCCTGGAG	0.567																																					p.R69H	Esophageal Squamous(150;1369 2416 49071 49364)	.											.	SHMT2-91	0			c.G206A						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	81.0	87.0		206,143,143,143,206	4.8	1.0	12		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHMT2	NM_005412.5,NM_001166359.1,NM_001166358.1,NM_001166357.1,NM_001166356.1	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	69/505,48/484,48/484,48/484,69/495	57624758	1,13005	2203	4300	6503	SO:0001583	missense	6472	exon2			AGTGTCGTGGCCT	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.206G>A	12.37:g.57624758G>A	ENSP00000333667:p.Arg69His	397	4		565	277	NM_005412	0	0	3	3	0	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319211	0.60524	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	1.58;0.99;0.99;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	N	0.21617	0.685	0.80722	D	1	B;B	0.28350	0.064;0.208	B;B	0.28553	0.032;0.091	T	0.06698	-1.0812	10	0.11485	T	0.65	.	17.1828	0.86859	0.0:0.0:1.0:0.0	.	69;69	Q8N1A5;P34897	.;GLYM_HUMAN	H	69;69;69;48;48;48;48;48;48;48;48;48;48	ENSP00000333667:R69H;ENSP00000452315:R69H;ENSP00000452035:R69H;ENSP00000406881:R48H;ENSP00000450452:R48H;ENSP00000452161:R48H;ENSP00000450893:R48H;ENSP00000452045:R48H;ENSP00000452419:R48H;ENSP00000451968:R48H;ENSP00000452404:R48H;ENSP00000413770:R48H;ENSP00000451495:R48H	ENSP00000333667:R69H	R	+	2	0	SHMT2	55911025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.104000	0.64584	2.668000	0.90789	0.655000	0.94253	CGT	.		0.567	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	
TMBIM4	51643	hgsc.bcm.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																					p.Y174fs		.											.	TMBIM4-515	0			c.520delT						.			30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	SO:0001589	frameshift_variant	51643	exon7			CACTATAAAAAAA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs	25	0		30	12	NM_016056	0	0	0	0	0	Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	CCDS41805.1																																																																																			.		0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
KCNC2	3747	ucsc.edu;bcgsc.ca	37	12	75444415	75444415	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:75444415C>T	ENST00000549446.1	-	3	2050	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	KCNC2_ENST00000298972.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000540018.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000393288.2_Missense_Mutation_p.C457Y|KCNC2_ENST00000350228.2_Missense_Mutation_p.C457Y|KCNC2_ENST00000341669.3_Missense_Mutation_p.C457Y|KCNC2_ENST00000548513.1_Missense_Mutation_p.C457Y	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	457					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGCCAGAGCACACAGGGCTCC	0.507																																					p.C457Y		.											.	KCNC2-224	0			c.G1370A						.						73.0	67.0	69.0					12																	75444415		2203	4300	6503	SO:0001583	missense	3747	exon3			AGAGCACACAGGG	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1370G>A	12.37:g.75444415C>T	ENSP00000449253:p.Cys457Tyr	110	2		150	58	NM_139137	0	0	0	0	0	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028613	0.75390	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.96996	3.92	0.80722	D	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;0.998	D	0.98490	1.0609	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	457;457;457;457;457	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	Y	457	ENSP00000448301:C457Y;ENSP00000449941:C457Y;ENSP00000449253:C457Y;ENSP00000340121:C457Y;ENSP00000298972:C457Y;ENSP00000319877:C457Y;ENSP00000438423:C457Y;ENSP00000376966:C457Y	ENSP00000298972:C457Y	C	-	2	0	KCNC2	73730682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	TGT	.		0.507	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
TMTC2	160335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	83290288	83290288	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:83290288G>A	ENST00000321196.3	+	3	2053	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.R443Q|TMTC2_ENST00000548305.1_Missense_Mutation_p.R449Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	449					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTCCAAAAGCGGTTCCTCAAG	0.418																																					p.R449Q		.											.	TMTC2-92	0			c.G1346A						.						97.0	89.0	92.0					12																	83290288		2203	4300	6503	SO:0001583	missense	160335	exon3			AAAAGCGGTTCCT	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1346G>A	12.37:g.83290288G>A	ENSP00000322300:p.Arg449Gln	83	0		96	42	NM_152588	0	0	1	1	0	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153967	0.38021	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.63744	0.62;-0.06;0.53	5.86	4.98	0.66077	.	0.220980	0.45361	D	0.000367	T	0.55641	0.1933	M	0.71871	2.18	0.42989	D	0.994488	P;B;P	0.47106	0.716;0.132;0.89	B;B;B	0.36666	0.057;0.043;0.23	T	0.57751	-0.7757	10	0.27082	T	0.32	-11.8368	11.0357	0.47799	0.1411:0.0:0.8589:0.0	.	449;204;449	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	Q	449;449;443;204	ENSP00000322300:R449Q;ENSP00000448292:R449Q;ENSP00000447609:R443Q	ENSP00000322300:R449Q	R	+	2	0	TMTC2	81814419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.582000	0.67477	1.493000	0.48517	0.650000	0.86243	CGG	.		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
LRRIQ1	84125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	85554403	85554403	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:85554403G>A	ENST00000393217.2	+	24	4794	c.4733G>A	c.(4732-4734)cGt>cAt	p.R1578H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1578										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCCACTGTGCGTCTAGCCTTA	0.358																																					p.R1578H		.											.	LRRIQ1-95	0			c.G4733A						.						122.0	111.0	114.0					12																	85554403		1824	4085	5909	SO:0001583	missense	84125	exon24			CTGTGCGTCTAGC	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4733G>A	12.37:g.85554403G>A	ENSP00000376910:p.Arg1578His	92	0		108	42	NM_001079910	0	0	0	0	0	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765207	0.15914	.	.	ENSG00000133640	ENST00000393217	T	0.68765	-0.35	4.63	3.74	0.42951	.	.	.	.	.	T	0.66056	0.2751	L	0.27053	0.805	0.28089	N	0.931892	D	0.71674	0.998	P	0.54965	0.765	T	0.61417	-0.7067	9	0.87932	D	0	.	12.7313	0.57199	0.0807:0.0:0.9193:0.0	.	1578	Q96JM4	LRIQ1_HUMAN	H	1578	ENSP00000376910:R1578H	ENSP00000376910:R1578H	R	+	2	0	LRRIQ1	84078534	1.000000	0.71417	0.040000	0.18447	0.483000	0.33249	4.769000	0.62300	1.056000	0.40484	0.557000	0.71058	CGT	.		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
SCYL2	55681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	100732792	100732792	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:100732792G>T	ENST00000360820.2	+	18	3069	c.2632G>T	c.(2632-2634)Ggc>Tgc	p.G878C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	878	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCAACTATGGGCAGTTCAGT	0.448																																					p.G878C		.											.	SCYL2-336	0			c.G2632T						.						183.0	178.0	179.0					12																	100732792		2203	4300	6503	SO:0001583	missense	55681	exon18			ACTATGGGCAGTT	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2632G>T	12.37:g.100732792G>T	ENSP00000354061:p.Gly878Cys	172	0		266	22	NM_017988	0	0	36	40	4	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716545	0.48622	.	.	ENSG00000136021	ENST00000360820	T	0.30714	1.52	5.8	5.8	0.92144	.	0.184300	0.56097	D	0.000022	T	0.21509	0.0518	N	0.24115	0.695	0.36064	D	0.841647	D	0.57257	0.979	B	0.43360	0.417	T	0.13926	-1.0491	10	0.72032	D	0.01	-9.2487	7.9325	0.29909	0.1877:0.0:0.8123:0.0	.	878	Q6P3W7	SCYL2_HUMAN	C	878	ENSP00000354061:G878C	ENSP00000354061:G878C	G	+	1	0	SCYL2	99256923	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.260000	0.51523	2.902000	0.99343	0.650000	0.86243	GGC	.		0.448	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
BTBD11	121551	hgsc.bcm.edu	37	12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	rs961498	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5.0	3.0	3.0		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	0	0		7	7	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
ACACB	32	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	109613959	109613959	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:109613959C>T	ENST00000338432.7	+	9	1447	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	ACACB_ENST00000377848.3_Splice_Site_p.A443V|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Splice_Site_p.A443V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	443	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCACCCAGGCAGCAGAAAGA	0.547																																					p.A443V		.											.	ACACB-98	0			c.C1328T						.						240.0	252.0	248.0					12																	109613959		2203	4300	6503	SO:0001630	splice_region_variant	32	exon8			CCCAGGCAGCAGA	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1327-1C>T	12.37:g.109613959C>T		205	0		276	44	NM_001093	0	0	0	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069777	0.36566	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.98012	-4.66;-4.66;-4.66	5.8	2.93	0.34026	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.404642	0.29040	N	0.013334	D	0.93976	0.8071	L	0.31578	0.945	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	D	0.88438	0.3040	10	0.45353	T	0.12	.	9.8024	0.40773	0.0:0.6903:0.0:0.3097	.	443	O00763	ACACB_HUMAN	V	443	ENSP00000341044:A443V;ENSP00000367079:A443V;ENSP00000367085:A443V	ENSP00000341044:A443V	A	+	2	0	ACACB	108098342	0.012000	0.17670	0.837000	0.33122	0.569000	0.35902	0.136000	0.15974	0.339000	0.23719	0.655000	0.94253	GCA	.		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Missense_Mutation
OAS2	4939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	113442751	113442751	+	Missense_Mutation	SNP	G	G	A	rs143746502		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:113442751G>A	ENST00000342315.4	+	7	1406	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	OAS2_ENST00000392583.2_Missense_Mutation_p.A398T|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	398	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGGATCAACCGCCAAAGGCAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19896	0.001		0.0	False		,,,				2504	0.0				p.A398T	Pancreas(199;709 2232 18410 33584 35052)	.											.	OAS2-91	0			c.G1192A						.						62.0	62.0	62.0					12																	113442751		2203	4300	6503	SO:0001583	missense	4939	exon7			TCAACCGCCAAAG	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1192G>A	12.37:g.113442751G>A	ENSP00000342278:p.Ala398Thr	86	0		130	66	NM_002535	0	0	0	0	0	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	13.86	2.364157	0.41902	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.10099	2.91;2.91	4.17	3.27	0.37495	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);2-5-oligoadenylate synthetase, conserved site (1);	0.768093	0.10875	N	0.624472	T	0.26666	0.0652	M	0.72894	2.215	0.24669	N	0.993428	D;D	0.76494	0.999;0.999	P;P	0.61477	0.889;0.823	T	0.06338	-1.0832	10	0.72032	D	0.01	-3.8504	7.9747	0.30149	0.1147:0.0:0.8853:0.0	.	398;398	P29728;P29728-2	OAS2_HUMAN;.	T	398	ENSP00000342278:A398T;ENSP00000376362:A398T	ENSP00000342278:A398T	A	+	1	0	OAS2	111927134	0.898000	0.30612	0.137000	0.22149	0.045000	0.14185	2.538000	0.45710	1.106000	0.41623	0.591000	0.81541	GCC	G|0.999;A|0.000		0.517	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
OAS2	4939	broad.mit.edu;bcgsc.ca	37	12	113442852	113442852	+	Silent	SNP	C	C	T	rs186647423		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:113442852C>T	ENST00000342315.4	+	7	1507	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	OAS2_ENST00000392583.2_Silent_p.I431I|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	431	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCACAAAATCGTCAAGGAAA	0.512																																					p.I431I	Pancreas(199;709 2232 18410 33584 35052)	.											.	OAS2-91	0			c.C1293T						.						83.0	77.0	79.0					12																	113442852		2203	4300	6503	SO:0001819	synonymous_variant	4939	exon7			CAAAATCGTCAAG	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1293C>T	12.37:g.113442852C>T		177	1		257	12	NM_002535	0	0	0	0	0	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																			C|0.999;A|0.000		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
MAP1LC3B2	643246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	117013775	117013775	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:117013775C>T	ENST00000556529.1	+	1	120	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.R10W			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	10					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)		p.R10G(1)		breast(1)|large_intestine(2)|lung(3)	6						CTTCAAGCAGCGGCGCACCTT	0.607																																					p.R10W		.											.	MAP1LC3B2-68	1	Substitution - Missense(1)	lung(1)	c.C28T						.						83.0	81.0	82.0					12																	117013775		2203	4300	6503	SO:0001583	missense	643246	exon2			AAGCAGCGGCGCA		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.28C>T	12.37:g.117013775C>T	ENSP00000450524:p.Arg10Trp	153	0		247	52	NM_001085481	0	0	0	1	1		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	7.345	0.621655	0.14193	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.46819	0.86;0.86	2.71	0.0969	0.14492	.	0.137625	0.43919	U	0.000504	T	0.38719	0.1051	L	0.54965	1.715	0.23791	N	0.996836	D	0.56035	0.974	P	0.46049	0.502	T	0.36792	-0.9733	10	0.87932	D	0	-7.7031	2.2994	0.04158	0.2699:0.4932:0.0:0.237	.	10	A6NCE7	MP3B2_HUMAN	W	10	ENSP00000305059:R10W;ENSP00000450524:R10W	ENSP00000305059:R10W	R	+	1	2	MAP1LC3B2	115498158	1.000000	0.71417	0.087000	0.20705	0.038000	0.13279	0.594000	0.24014	-0.096000	0.12329	0.375000	0.23000	CGG	.		0.607	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481	
C12orf49	79794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	117160928	117160928	+	Missense_Mutation	SNP	G	G	A	rs149801903		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:117160928G>A	ENST00000261318.3	-	2	372	c.212C>T	c.(211-213)cCg>cTg	p.P71L	C12orf49_ENST00000548356.1_5'Flank|C12orf49_ENST00000536380.1_Intron	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	71						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CTGATTGCTCGGACGACTGCT	0.552																																					p.P71L		.											.	C12orf49-91	0			c.C212T						.	G	LEU/PRO	0,4406		0,0,2203	169.0	123.0	139.0		212	3.9	0.9	12	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf49	NM_024738.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	71/206	117160928	1,13005	2203	4300	6503	SO:0001583	missense	79794	exon2			TTGCTCGGACGAC	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.212C>T	12.37:g.117160928G>A	ENSP00000261318:p.Pro71Leu	191	0		366	85	NM_024738	0	0	0	0	0	Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	CCDS9179.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365394	0.24684	0.0	1.16E-4	ENSG00000111412	ENST00000261318	T	0.42513	0.97	3.89	3.89	0.44902	.	0.213035	0.43747	D	0.000540	T	0.16854	0.0405	N	0.11427	0.14	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19095	-1.0316	10	0.09338	T	0.73	-8.6484	3.1324	0.06428	0.1921:0.0:0.57:0.2379	.	71	Q9H741	CL049_HUMAN	L	71	ENSP00000261318:P71L	ENSP00000261318:P71L	P	-	2	0	C12orf49	115645311	1.000000	0.71417	0.944000	0.38274	0.972000	0.66771	3.039000	0.49791	2.469000	0.83416	0.655000	0.94253	CCG	G|1.000;A|0.000		0.552	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738	
CAMKK2	10645	hgsc.bcm.edu	37	12	121711941	121711941	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:121711941G>T	ENST00000324774.5	-	2	1217	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CAMKK2_ENST00000347034.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P130H|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P130H|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P130H|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P130H	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	130					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGCTGACGGGTGAGTAGGG	0.687																																					p.P130H		.											.	CAMKK2-450	0			c.C389A						.						22.0	26.0	25.0					12																	121711941		2201	4298	6499	SO:0001583	missense	10645	exon2			CTGACGGGTGAGT	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.389C>A	12.37:g.121711941G>T	ENSP00000312741:p.Pro130His	1	0		198	80	NM_153500	0	0	0	1	1	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188016	0.57909	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.75477	-0.9;-0.86;-0.85;-0.88;-0.94;-0.88;-0.94;-0.86;-0.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.76071	0.976;0.982;0.987;0.987;0.987;0.971;0.987	D	0.85338	0.1094	10	0.87932	D	0	-6.0821	17.9471	0.89042	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	H	130;130;130;130;130;130;130;113;130;130	ENSP00000376266:P130H;ENSP00000321230:P130H;ENSP00000445944:P130H;ENSP00000336634:P130H;ENSP00000312741:P130H;ENSP00000388368:P130H;ENSP00000384600:P130H;ENSP00000388273:P130H;ENSP00000376265:P130H	ENSP00000312741:P130H	P	-	2	0	CAMKK2	120196324	1.000000	0.71417	0.303000	0.25071	0.023000	0.10783	8.791000	0.91849	2.561000	0.86390	0.462000	0.41574	CCC	.		0.687	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	
RHOF	54509	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	122219074	122219074	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:122219074C>T	ENST00000267205.2	-	3	879	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_5'UTR|RHOF_ENST00000537171.1_Missense_Mutation_p.R84Q	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	84					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGACAGGGGCCGCAGCCGGTC	0.622																																					p.R84Q		.											.	RHOF-660	0			c.G251A						.						106.0	100.0	102.0					12																	122219074		2203	4300	6503	SO:0001583	missense	54509	exon3			AGGGGCCGCAGCC	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.251G>A	12.37:g.122219074C>T	ENSP00000267205:p.Arg84Gln	109	0		247	52	NM_019034	0	0	25	27	2	Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813918	0.96975	.	.	ENSG00000139725	ENST00000267205;ENST00000535560	T;T	0.72167	-0.63;-0.63	5.03	5.03	0.67393	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94399	0.7621	10	0.87932	D	0	.	18.3082	0.90189	0.0:1.0:0.0:0.0	.	84;84	Q9HBH0-2;Q9HBH0	.;RHOF_HUMAN	Q	84	ENSP00000267205:R84Q;ENSP00000440397:R84Q	ENSP00000267205:R84Q	R	-	2	0	RHOF	120703457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.401000	0.79962	2.488000	0.83962	0.650000	0.86243	CGG	.		0.622	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1		
SETD1B	23067	broad.mit.edu	37	12	122252825	122252825	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:122252825C>T	ENST00000604567.1	+	7	2772	c.2704C>T	c.(2704-2706)Cgg>Tgg	p.R902W	SETD1B_ENST00000542440.1_Missense_Mutation_p.R902W|SETD1B_ENST00000267197.5_Missense_Mutation_p.R902W			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	902	Pro-rich.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						CAAGAAGGAGCGGATGGCCAA	0.612																																					p.R902W		.											.	SETD1B-86	0			c.C2704T						.						54.0	49.0	51.0					12																	122252825		692	1591	2283	SO:0001583	missense	23067	exon6			AAGGAGCGGATGG	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.2704C>T	12.37:g.122252825C>T	ENSP00000474253:p.Arg902Trp	78	1		195	18	NM_015048	0	0	0	0	0	F6MFW1	Missense_Mutation	SNP	ENST00000604567.1	37		.	.	.	.	.	.	.	.	.	.	C	12.37	1.918093	0.33815	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.94828	-3.53;-3.53	4.78	3.87	0.44632	.	.	.	.	.	D	0.95875	0.8657	L	0.54323	1.7	0.46028	D	0.998828	D	0.89917	1.0	D	0.69654	0.965	D	0.95847	0.8871	9	0.87932	D	0	.	14.0954	0.65019	0.1518:0.8482:0.0:0.0	.	902	Q9UPS6	SET1B_HUMAN	W	902	ENSP00000442924:R902W;ENSP00000267197:R902W	ENSP00000267197:R902W	R	+	1	2	SETD1B	120737208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.908000	0.56355	0.945000	0.37605	0.561000	0.74099	CGG	.		0.612	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
SNRNP35	11066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	123950559	123950559	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:123950559C>T	ENST00000526639.2	+	2	1051	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R163W|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R158W	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	158	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ATTTGGGGGACGGGACCGGCC	0.537																																					p.R163W		.											.	SNRNP35-68	0			c.C487T						.						54.0	64.0	61.0					12																	123950559		2203	4300	6503	SO:0001583	missense	11066	exon2			GGGGGACGGGACC	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.472C>T	12.37:g.123950559C>T	ENSP00000432595:p.Arg158Trp	35	0		55	7	NM_180699	0	0	43	50	7	A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858274	0.71834	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75260	-0.92;-0.92;-0.92	5.76	3.94	0.45596	.	0.060682	0.64402	D	0.000003	D	0.85579	0.5729	M	0.82517	2.595	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.86165	0.1596	10	0.87932	D	0	-10.9393	11.0262	0.47746	0.1296:0.8039:0.0:0.0665	.	163;158	Q16560-2;Q16560	.;U1SBP_HUMAN	W	158;163;158	ENSP00000432595:R158W;ENSP00000403310:R163W;ENSP00000340774:R158W	ENSP00000340774:R158W	R	+	1	2	SNRNP35	122516512	0.997000	0.39634	0.511000	0.27724	0.987000	0.75469	3.639000	0.54339	0.803000	0.34113	0.555000	0.69702	CGG	.		0.537	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020	
DNAH10	196385	broad.mit.edu	37	12	124417938	124417938	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:124417938C>T	ENST00000409039.3	+	76	13028	c.13003C>T	c.(13003-13005)Ctc>Ttc	p.L4335F	DNAH10_ENST00000538983.1_3'UTR|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4335					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGTCCTACCTCACGGCGCT	0.622																																					p.L4335F		.											.	DNAH10-95	0			c.C13003T						.						26.0	28.0	28.0					12																	124417938		1978	4158	6136	SO:0001583	missense	196385	exon76			TCCTACCTCACGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13003C>T	12.37:g.124417938C>T	ENSP00000386770:p.Leu4335Phe	83	0		225	5	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523266	0.85600	.	.	ENSG00000197653	ENST00000409039	T	0.18174	2.23	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.64402	D	0.000004	T	0.57799	0.2078	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73544	-0.3949	10	0.87932	D	0	.	18.3051	0.90177	0.0:1.0:0.0:0.0	.	4335	Q8IVF4	DYH10_HUMAN	F	4335	ENSP00000386770:L4335F	ENSP00000386770:L4335F	L	+	1	0	DNAH10	122983891	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.896000	0.69822	2.413000	0.81919	0.561000	0.74099	CTC	.		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NCOR2	9612	hgsc.bcm.edu	37	12	124829305	124829305	+	Missense_Mutation	SNP	A	A	T	rs75902515	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:124829305A>T	ENST00000405201.1	-	32	4552	c.4552T>A	c.(4552-4554)Tcg>Acg	p.S1518T	NCOR2_ENST00000397355.1_Missense_Mutation_p.S1509T|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1508T|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1079T|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1525T|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1508T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1526					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GAGCCCCCCGAGCTGCTGGCG	0.706													A|||	56	0.0111821	0.0371	0.0086	5008	,	,		13371	0.0		0.001	False		,,,				2504	0.0				p.S1518T		.											.	NCOR2-229	0			c.T4552A						.	A	THR/SER,THR/SER,THR/SER	70,3404		0,70,1667	4.0	7.0	6.0		4522,4522,4552	-6.4	0.0	12	dbSNP_131	6	2,7418		0,2,3708	yes	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	58,58,58	0,72,5375	TT,TA,AA		0.027,2.015,0.6609	possibly-damaging,possibly-damaging,possibly-damaging	1508/2459,1508/2505,1518/2515	124829305	72,10822	1737	3710	5447	SO:0001583	missense	9612	exon34			CCCCCGAGCTGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4552T>A	12.37:g.124829305A>T	ENSP00000384018:p.Ser1518Thr	0	0		19	7	NM_006312	0	0	8	20	12	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	5.641	0.303022	0.10678	0.02015	2.7E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.36	-6.38	0.01957	.	0.594157	0.17228	N	0.182042	T	0.16599	0.0399	L	0.52126	1.63	0.09310	N	0.999999	P;P;P	0.44734	0.737;0.842;0.792	B;B;B	0.40066	0.22;0.3;0.318	T	0.07558	-1.0766	10	0.48119	T	0.1	-4.2205	3.7949	0.08736	0.2761:0.4475:0.0703:0.206	.	1508;1509;1518	C9J0Q5;C9J239;C9JFD3	.;.;.	T	1518;1508;1525;1509;1517;1079;1508	ENSP00000384018:S1518T;ENSP00000384202:S1508T;ENSP00000348551:S1525T;ENSP00000380513:S1509T;ENSP00000385618:S1079T;ENSP00000400281:S1508T	ENSP00000348551:S1525T	S	-	1	0	NCOR2	123395258	0.942000	0.31987	0.000000	0.03702	0.095000	0.18619	0.033000	0.13754	-1.695000	0.01423	0.397000	0.26171	TCG	.		0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	130184571	130184571	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:130184571C>A	ENST00000422113.2	-	2	1078	c.752G>T	c.(751-753)cGg>cTg	p.R251L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	251					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R251L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGCCTGTCCGGATCCCATT	0.617																																					p.R251L		.											.	TMEM132D-106	1	Substitution - Missense(1)	lung(1)	c.G752T						.						100.0	87.0	92.0					12																	130184571		2203	4300	6503	SO:0001583	missense	121256	exon2			CCTGTCCGGATCC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.752G>T	12.37:g.130184571C>A	ENSP00000408581:p.Arg251Leu	88	0		134	59	NM_133448	0	0	0	0	0	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435441	0.43224	.	.	ENSG00000151952	ENST00000422113	T	0.14766	2.48	5.35	2.37	0.29283	.	0.779071	0.11556	N	0.552315	T	0.20373	0.0490	M	0.77103	2.36	0.09310	N	1	P	0.43701	0.815	B	0.41571	0.36	T	0.08806	-1.0704	9	.	.	.	-18.8043	10.4046	0.44249	0.0:0.6693:0.2605:0.0702	.	251	Q14C87	T132D_HUMAN	L	251	ENSP00000408581:R251L	.	R	-	2	0	TMEM132D	128750524	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	0.231000	0.17872	0.598000	0.29829	0.650000	0.86243	CGG	.		0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
EP400	57634	bcgsc.ca	37	12	132547096	132547096	+	Silent	SNP	G	G	A	rs74479394|rs113304321	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:132547096G>A	ENST00000333577.4	+	48	8401	c.8292G>A	c.(8290-8292)caG>caA	p.Q2764Q	EP400_ENST00000332482.4_Silent_p.Q2691Q|EP400_ENST00000389562.2_Silent_p.Q2727Q|EP400_ENST00000389561.2_Silent_p.Q2728Q|EP400_ENST00000330386.6_Silent_p.Q2647Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcaacaacagcagcagcagc	0.567													G|||	734	0.146565	0.3215	0.0432	5008	,	,		15582	0.1111		0.0417	False		,,,				2504	0.1278				p.Q2728Q		.											.	EP400-520	0			c.G8184A						.	G		0,4324		0,0,2162	24.0	29.0	27.0		8184	0.5	0.9	12	dbSNP_131	27	1,8349		0,1,4174	no	coding-synonymous	EP400	NM_015409.4		0,1,6336	AA,AG,GG		0.012,0.0,0.0079		2728/3124	132547096	1,12673	2162	4175	6337	SO:0001819	synonymous_variant	57634	exon47			ACAACAGCAGCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8292G>A	12.37:g.132547096G>A		113	1		287	49	NM_015409	0	0	17	20	3	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
POLE	5426	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	133249853	133249853	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:133249853G>A	ENST00000320574.5	-	14	1413	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	POLE_ENST00000535270.1_Missense_Mutation_p.T430M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACAGAATACGTGGCCAGAGT	0.522								DNA polymerases (catalytic subunits)																													p.T457M		.											.	POLE-233	0			c.C1370T						.						169.0	143.0	152.0					12																	133249853		2203	4300	6503	SO:0001583	missense	5426	exon14			GAATACGTGGCCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1370C>T	12.37:g.133249853G>A	ENSP00000322570:p.Thr457Met	217	1		278	66	NM_006231	0	0	0	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682300	0.68042	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.42131	4.82;4.82;4.82;0.98	5.37	5.37	0.77165	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.65010	0.931;0.786	T	0.59484	-0.7446	10	0.72032	D	0.01	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	430;457	F5H1D6;Q07864	.;DPOE1_HUMAN	M	457;468;430;237;392;75	ENSP00000322570:T457M;ENSP00000406383:T468M;ENSP00000445753:T430M;ENSP00000442519:T237M	ENSP00000322570:T457M	T	-	2	0	POLE	131759926	1.000000	0.71417	0.988000	0.46212	0.220000	0.24768	9.807000	0.99171	2.524000	0.85096	0.313000	0.20887	ACG	.		0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
SPATA13	221178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	24825999	24825999	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:24825999C>T	ENST00000382095.4	+	3	695	c.288C>T	c.(286-288)aaC>aaT	p.N96N	RP11-307N16.6_ENST00000382141.4_Splice_Site_p.N599N|SPATA13_ENST00000424834.2_Splice_Site_p.N721N|SPATA13-AS1_ENST00000430733.1_RNA|SPATA13_ENST00000382108.3_Splice_Site_p.N721N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	96					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GAGCATCCAACGGTGAGTCTC	0.612																																					p.N721N		.											.	SPATA13-229	0			c.C2163T						.						43.0	39.0	40.0					13																	24825999		2203	4300	6503	SO:0001630	splice_region_variant	221178	exon4			ATCCAACGGTGAG	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.289+1C>T	13.37:g.24825999C>T		65	0		63	52	NM_001166271	0	0	0	0	0	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371671	0.24771	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.96	-2.26	0.06867	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57510	-0.7799	4	.	.	.	.	12.4158	0.55492	0.0:0.259:0.0:0.741	.	.	.	.	C	759	.	.	R	+	1	0	SPATA13	23723999	0.792000	0.28813	0.263000	0.24496	0.908000	0.53690	0.017000	0.13399	-0.268000	0.09312	0.650000	0.86243	CGT	.		0.612	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	Silent
TSC22D1	8848	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	45147753	45147753	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:45147753C>T	ENST00000458659.2	-	1	2948	c.2458G>A	c.(2458-2460)Gca>Aca	p.A820T	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	820					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAACTAACTGCAGGCAACTGC	0.458																																					p.A820T		.											.	TSC22D1-90	0			c.G2458A						.						124.0	130.0	128.0					13																	45147753		2203	4300	6503	SO:0001583	missense	8848	exon1			TAACTGCAGGCAA	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2458G>A	13.37:g.45147753C>T	ENSP00000397435:p.Ala820Thr	131	0		103	9	NM_183422	0	0	4	4	0	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730331	0.15507	.	.	ENSG00000102804	ENST00000458659	D	0.85088	-1.94	4.77	1.29	0.21616	.	0.372474	0.22569	N	0.058373	T	0.67239	0.2872	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52124	-0.8617	10	0.08381	T	0.77	.	7.3482	0.26676	0.0:0.6374:0.1441:0.2185	.	820	Q15714	T22D1_HUMAN	T	820	ENSP00000397435:A820T	ENSP00000397435:A820T	A	-	1	0	TSC22D1	44045753	0.998000	0.40836	0.988000	0.46212	0.800000	0.45204	0.837000	0.27558	0.374000	0.24650	0.462000	0.41574	GCA	.		0.458	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
ABCC4	10257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	95840746	95840746	+	Silent	SNP	G	G	A	rs150945397		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000431522.1_Silent_p.G438G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTAACAATTCGCCAGGTCTGA	0.453																																					p.G438G		.											.	ABCC4-515	0			c.C1314T						.	G	,	2,4404	4.2+/-10.8	0,2,2201	121.0	115.0	117.0		1314,1314	-10.4	0.1	13	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC4	NM_001105515.1,NM_005845.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	438/860,438/1326	95840746	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10257	exon10			CAATTCGCCAGGT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1314C>T	13.37:g.95840746G>A		138	0		106	94	NM_005845	0	0	0	0	0	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																			G|1.000;A|0.000		0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
ING1	3621	bcgsc.ca	37	13	111371922	111371922	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:111371922C>T	ENST00000375774.3	+	2	1374	c.912C>T	c.(910-912)aaC>aaT	p.N304N	ING1_ENST00000375775.3_Silent_p.N92N|ING1_ENST00000338450.7_Silent_p.N117N|ING1_ENST00000333219.7_Silent_p.N161N	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	304					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCGTGAGAACGCGTCCAGCA	0.657																																					p.N304N		.											.	ING1-515	0			c.C912T						.						54.0	44.0	47.0					13																	111371922		2199	4299	6498	SO:0001819	synonymous_variant	3621	exon2			TGAGAACGCGTCC		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.912C>T	13.37:g.111371922C>T		82	2		282	255	NM_005537	0	0	1	16	15	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			.		0.657	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
ARHGEF7	8874	broad.mit.edu	37	13	111938538	111938538	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:111938538G>A	ENST00000375741.2	+	18	2308	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	ARHGEF7_ENST00000478679.1_Silent_p.K430K|ARHGEF7_ENST00000426073.2_Silent_p.K508K|ARHGEF7_ENST00000375723.1_Silent_p.K508K|ARHGEF7_ENST00000218789.5_Silent_p.K508K|ARHGEF7_ENST00000375739.2_Silent_p.K636K|ARHGEF7_ENST00000375737.5_Silent_p.K583K|ARHGEF7_ENST00000317133.5_Silent_p.K665K|ARHGEF7_ENST00000370623.3_Silent_p.K593K|ARHGEF7_ENST00000375736.4_Silent_p.K508K	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	686					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTGCCCAAGCGCAAACCTG	0.502																																					p.K686K		.											.	ARHGEF7-232	0			c.G2058A						.						101.0	93.0	95.0					13																	111938538		2203	4300	6503	SO:0001819	synonymous_variant	8874	exon18			GCCCAAGCGCAAA	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2058G>A	13.37:g.111938538G>A		146	0		259	8	NM_001113511	0	0	19	19	0	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1																																																																																			.		0.502	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
MCF2L	23263	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	113741680	113741680	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:113741680C>T	ENST00000375608.3	+	23	2653	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	MCF2L_ENST00000442652.2_Silent_p.H865H|MCF2L_ENST00000397030.1_Silent_p.H868H|MCF2L_ENST00000423482.2_Silent_p.H833H|MCF2L_ENST00000375601.3_Silent_p.H839H|MCF2L_ENST00000535094.2_Silent_p.H835H|MCF2L_ENST00000421756.1_Silent_p.H839H|MCF2L_ENST00000434480.2_Silent_p.H841H|MCF2L_ENST00000375597.4_Silent_p.H833H|MCF2L_ENST00000375604.2_Silent_p.H892H			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	865	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGTTCCTGCACGAGAAGGCAG	0.577																																					p.H835H		.											.	MCF2L-228	0			c.C2505T						.						73.0	55.0	61.0					13																	113741680		2203	4300	6503	SO:0001819	synonymous_variant	23263	exon22			CCTGCACGAGAAG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2595C>T	13.37:g.113741680C>T		114	1		344	62	NM_001112732	0	0	1	1	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.168|0.168	-1.074735|-1.074735	0.01903|0.01903	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000413354;ENST00000261963	.|.	.|.	.|.	4.57|4.57	-5.11|-5.11	0.02901|0.02901	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53270	.|0.1786	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54029	.|-0.8354	.|4	.|.	.|.	.|.	.|.	10.5075|10.5075	0.44842|0.44842	0.0:0.2324:0.1003:0.6673|0.0:0.2324:0.1003:0.6673	.|.	.|.	.|.	.|.	X|M	496|65;6	.|.	.|.	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112789681|112789681	0.056000|0.056000	0.20664|0.20664	0.858000|0.858000	0.33744|0.33744	0.090000|0.090000	0.18270|0.18270	-0.718000|-0.718000	0.04980|0.04980	-1.138000|-1.138000	0.02884|0.02884	-1.830000|-1.830000	0.00593|0.00593	CGA|ACG	.		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
TFDP1	7027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	114292172	114292172	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:114292172C>T	ENST00000375370.5	+	11	1258	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	TFDP1_ENST00000544902.1_Missense_Mutation_p.T320M|TFDP1_ENST00000538138.1_Missense_Mutation_p.T254M	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	349					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTCATCACGACGGCAGGTTCC	0.557										TSP Lung(29;0.18)																											p.T349M		.											.	TFDP1-416	0			c.C1046T						.						123.0	110.0	114.0					13																	114292172		2203	4300	6503	SO:0001583	missense	7027	exon11			TCACGACGGCAGG	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1046C>T	13.37:g.114292172C>T	ENSP00000364519:p.Thr349Met	144	0		363	44	NM_007111	0	0	20	24	4	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	7.154	0.584315	0.13749	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.51325	0.84;1.9;0.71	4.8	4.8	0.61643	.	0.775281	0.11839	N	0.524504	T	0.56514	0.1990	L	0.47716	1.5	0.09310	N	0.999994	D;D;P	0.71674	0.998;0.98;0.798	P;B;B	0.53549	0.729;0.416;0.197	T	0.51818	-0.8657	10	0.42905	T	0.14	.	17.201	0.86906	0.0:1.0:0.0:0.0	.	320;254;349	F5H452;B4DLQ9;Q14186	.;.;TFDP1_HUMAN	M	254;349;320	ENSP00000443878:T254M;ENSP00000364519:T349M;ENSP00000438450:T320M	ENSP00000364519:T349M	T	+	2	0	TFDP1	113340173	0.534000	0.26362	0.007000	0.13788	0.006000	0.05464	2.442000	0.44873	2.348000	0.79779	0.561000	0.74099	ACG	.		0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
GRK1	6011	broad.mit.edu	37	13	114325865	114325865	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:114325865C>T	ENST00000335678.6	+	3	1111	c.879C>T	c.(877-879)cgC>cgT	p.R293R		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CGGAGCCGCGCGCCCTCTTCT	0.617																																					p.R293R		.											.	GRK1-614	0			c.C879T						.						43.0	49.0	47.0					13																	114325865		2039	4189	6228	SO:0001819	synonymous_variant	6011	exon3			GCCGCGCGCCCTC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.879C>T	13.37:g.114325865C>T		58	0		202	6	NM_002929	0	0	0	0	0	Q53X14	Silent	SNP	ENST00000335678.6	37																																																																																				.		0.617	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
MMP14	4323	hgsc.bcm.edu	37	14	23315160	23315160	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23315160C>T	ENST00000311852.6	+	10	1922	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	554					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CTGGTGCTGGCGGTGGGCCTT	0.677																																					p.A554V		.											.	MMP14-226	0			c.C1661T						.						28.0	29.0	28.0					14																	23315160		2194	4292	6486	SO:0001583	missense	4323	exon10			TGCTGGCGGTGGG		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1661C>T	14.37:g.23315160C>T	ENSP00000308208:p.Ala554Val	0	0		34	15	NM_004995	0	0	10	16	6	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317770	0.10845	.	.	ENSG00000157227	ENST00000311852	T	0.24151	1.87	4.65	3.75	0.43078	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.339413	0.30374	N	0.009761	T	0.12902	0.0313	N	0.13140	0.3	0.35894	D	0.829908	B	0.12013	0.005	B	0.14578	0.011	T	0.12268	-1.0554	10	0.08381	T	0.77	.	11.4428	0.50107	0.0:0.9087:0.0:0.0913	.	554	P50281	MMP14_HUMAN	V	554	ENSP00000308208:A554V	ENSP00000308208:A554V	A	+	2	0	MMP14	22385000	0.986000	0.35501	0.978000	0.43139	0.952000	0.60782	2.661000	0.46758	2.296000	0.77279	0.460000	0.39030	GCG	.		0.677	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
MMP14	4323	broad.mit.edu	37	14	23315199	23315199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23315199delC	ENST00000311852.6	+	10	1961	c.1700delC	c.(1699-1701)accfs	p.T567fs	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	567					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CGCCATGGGACCCCCAGGCGA	0.682																																					p.T567fs		.											.	MMP14-226	0			c.1700delC						.						21.0	21.0	21.0					14																	23315199		2180	4282	6462	SO:0001589	frameshift_variant	4323	exon10			ATGGGACCCCCAG		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1700delC	14.37:g.23315199delC	ENSP00000308208:p.Thr567fs	9	0		50	7	NM_004995	0	0	0	0	0	A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	CCDS9577.1																																																																																			.		0.682	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
EFS	10278	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	23828979	23828979	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23828979G>A	ENST00000216733.3	-	4	1315	c.708C>T	c.(706-708)ccC>ccT	p.P236P	EFS_ENST00000351354.3_Silent_p.P143P|EFS_ENST00000429593.2_Intron|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	236	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGTTCCTCGGGTGCTTCAT	0.642																																					p.P236P		.											.	EFS-153	0			c.C708T						.						51.0	60.0	57.0					14																	23828979		2203	4298	6501	SO:0001819	synonymous_variant	10278	exon4			TTCCTCGGGTGCT	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.708C>T	14.37:g.23828979G>A		70	0		83	13	NM_005864	0	0	0	0	0	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	CCDS9595.1																																																																																			.		0.642	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2		
AKAP6	9472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	33014537	33014537	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:33014537A>G	ENST00000280979.4	+	4	848	c.678A>G	c.(676-678)gaA>gaG	p.E226E	AKAP6_ENST00000557272.1_Silent_p.E226E|AKAP6_ENST00000557354.1_Silent_p.E226E	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	226					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCATTCGAACTGTCTGACT	0.448																																					p.E226E	Melanoma(49;821 1200 7288 13647 42351)	.											.	AKAP6-733	0			c.A678G						.						159.0	142.0	148.0					14																	33014537		2203	4300	6503	SO:0001819	synonymous_variant	9472	exon4			ATTCGAACTGTCT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.678A>G	14.37:g.33014537A>G		288	1		420	188	NM_004274	0	0	0	0	0	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																			.		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
BAZ1A	11177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	35231352	35231352	+	Missense_Mutation	SNP	C	C	T	rs545004797	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:35231352C>T	ENST00000382422.2	-	23	4181	c.3854G>A	c.(3853-3855)cGt>cAt	p.R1285H	BAZ1A_ENST00000360310.1_Missense_Mutation_p.R1285H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1253H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1285					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGTTGGCCACGACTTGAGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		19260	0.0		0.0	False		,,,				2504	0.002				p.R1285H		.											.	BAZ1A-291	0			c.G3854A						.						170.0	151.0	158.0					14																	35231352		2203	4300	6503	SO:0001583	missense	11177	exon24			TGGCCACGACTTG	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3854G>A	14.37:g.35231352C>T	ENSP00000371859:p.Arg1285His	89	0		128	26	NM_013448	0	0	9	11	2	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	18.35	3.605268	0.66445	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.57907	0.37;0.37;0.37	5.78	5.78	0.91487	.	0.258732	0.40385	N	0.001119	T	0.49270	0.1547	L	0.32530	0.975	0.36884	D	0.889532	D;D	0.63046	0.992;0.987	P;P	0.51582	0.674;0.474	T	0.55082	-0.8196	10	0.41790	T	0.15	.	9.7379	0.40399	0.0:0.8096:0.0:0.1904	.	1253;1285	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	1253;1285;1285;937	ENSP00000351555:R1253H;ENSP00000371859:R1285H;ENSP00000353458:R1285H	ENSP00000351555:R1253H	R	-	2	0	BAZ1A	34301103	0.893000	0.30496	1.000000	0.80357	0.846000	0.48090	0.672000	0.25187	2.722000	0.93159	0.467000	0.42956	CGT	.		0.408	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
MIS18BP1	55320	hgsc.bcm.edu	37	14	45716019	45716019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:45716019delT	ENST00000310806.4	-	2	929	c.471delA	c.(469-471)aaafs	p.K157fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	157					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.K157fs*24(1)		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						TATGCTGCAATTTTTTTTTTT	0.358																																					p.K157fs		.											.	MIS18BP1-90	1	Deletion - Frameshift(1)	ovary(1)	c.471delA						.			6,4258		1,4,2127	185.0	165.0	172.0			0.9	0.2	14		175	19,8235		0,19,4108	no	frameshift	MIS18BP1	NM_018353.4		1,23,6235	A1A1,A1R,RR		0.2302,0.1407,0.1997			45716019	25,12493	2203	4300	6503	SO:0001589	frameshift_variant	55320	exon2			CTGCAATTTTTTT	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.471delA	14.37:g.45716019delT	ENSP00000309790:p.Lys157fs	76	1		130	20	NM_018353	0	0	0	0	0	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	CCDS9684.1																																																																																			.		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
NIN	51199	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	51237214	51237215	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:51237214_51237215delCT	ENST00000382041.3	-	12	1515_1516	c.1325_1326delAG	c.(1324-1326)gagfs	p.E442fs	NIN_ENST00000382043.4_Frame_Shift_Del_p.E442fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.E442fs|NIN_ENST00000389868.3_Frame_Shift_Del_p.E442fs|NIN_ENST00000245441.5_Frame_Shift_Del_p.E442fs|NIN_ENST00000324330.9_Frame_Shift_Del_p.E442fs|NIN_ENST00000530997.2_Frame_Shift_Del_p.E442fs	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	442					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCAGGATCTGCTCTCTCTCTTT	0.46			T	PDGFRB	MPD																																p.442_442del		.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN-229	0			c.1325_1326del						.																																			SO:0001589	frameshift_variant	51199	exon12			GATCTGCTCTCTC	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1325_1326delAG	14.37:g.51237222_51237223delCT	ENSP00000371472:p.Glu442fs	89	0		127	59	NM_020921	0	0	0	0	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Frame_Shift_Del	DEL	ENST00000382041.3	37	CCDS32079.1																																																																																			.		0.460	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	64644168	64644168	+	Silent	SNP	C	C	T	rs202141038		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:64644168C>T	ENST00000344113.4	+	96	17735	c.17523C>T	c.(17521-17523)caC>caT	p.H5841H	SYNE2_ENST00000357395.3_Silent_p.H2226H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.H2475H|SYNE2_ENST00000394768.2_Silent_p.H2226H|SYNE2_ENST00000358025.3_Silent_p.H5841H|SYNE2_ENST00000554584.1_Silent_p.H5706H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5841					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGCTTCACGAGGACCTCC	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17805	0.0		0.0	False		,,,				2504	0.0				p.H5841H		.											.	SYNE2-164	0			c.C17523T						.						88.0	90.0	89.0					14																	64644168		2203	4300	6503	SO:0001819	synonymous_variant	23224	exon96			GCTTCACGAGGAC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17523C>T	14.37:g.64644168C>T		187	0		247	116	NM_182914	0	0	2	3	1	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			C|0.999;T|0.000		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64680991	64680991	+	Missense_Mutation	SNP	G	G	A	rs150629598	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:64680991G>A	ENST00000344113.4	+	106	19348	c.19136G>A	c.(19135-19137)cGt>cAt	p.R6379H	SYNE2_ENST00000357395.3_Missense_Mutation_p.R2764H|SYNE2_ENST00000554805.1_Missense_Mutation_p.R162H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.R257H|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_Missense_Mutation_p.R13H|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3013H|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2764H|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6379H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6321H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6379					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATTCTTGGCGTAAACGGGGA	0.552																																					p.R6379H		.											.	SYNE2-164	0			c.G19136A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	134.0	133.0		19136,38,19136	0.1	0.3	14	dbSNP_134	133	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense	SYNE2	NM_015180.4,NM_182913.2,NM_182914.2	29,29,29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign	6379/6886,13/557,6379/6908	64680991	4,13002	2203	4300	6503	SO:0001583	missense	23224	exon106			CTTGGCGTAAACG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19136G>A	14.37:g.64680991G>A	ENSP00000341781:p.Arg6379His	128	0		213	7	NM_182914	0	0	3	3	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	5.527	0.282141	0.10458	2.27E-4	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.57436	0.86;4.17;0.87;0.4;4.21;4.17;3.82;3.33;2.91	5.27	0.0723	0.14386	.	0.705077	0.12755	N	0.441853	T	0.22513	0.0543	N	0.02539	-0.55	0.37304	D	0.908842	B;B;B;B;B;B;B	0.13145	0.004;0.0;0.007;0.001;0.003;0.001;0.002	B;B;B;B;B;B;B	0.09377	0.001;0.001;0.004;0.001;0.003;0.001;0.002	T	0.11494	-1.0585	10	0.20046	T	0.44	.	8.0687	0.30676	0.6564:0.0:0.3436:0.0	.	13;2764;13;767;6321;6379;6379	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	H	6379;2764;6379;6321;6327;3013;2764;257;162;13	ENSP00000350719:R6379H;ENSP00000349969:R2764H;ENSP00000341781:R6379H;ENSP00000452570:R6321H;ENSP00000450831:R3013H;ENSP00000378249:R2764H;ENSP00000451009:R257H;ENSP00000450605:R162H;ENSP00000391937:R13H	ENSP00000261678:R6327H	R	+	2	0	SYNE2	63750744	0.959000	0.32827	0.343000	0.25615	0.006000	0.05464	0.929000	0.28844	0.101000	0.17610	-0.137000	0.14449	CGT	G|1.000;A|0.000		0.552	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ACTN1	87	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	69371417	69371417	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:69371417C>T	ENST00000193403.6	-	7	1014	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.V211M|ACTN1_ENST00000394419.4_Missense_Mutation_p.V211M|ACTN1_ENST00000376839.3_Missense_Mutation_p.V146M|ACTN1_ENST00000438964.2_Missense_Mutation_p.V211M	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	211	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTCTGCCACGTCAAAAGCC	0.532																																					p.V211M		.											.	ACTN1-514	0			c.G631A						.						160.0	125.0	136.0					14																	69371417		2203	4300	6503	SO:0001583	missense	87	exon7			CTGCCACGTCAAA	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.631G>A	14.37:g.69371417C>T	ENSP00000193403:p.Val211Met	144	0		245	27	NM_001102	0	0	1	2	1	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188546	0.78789	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	4.98	4.98	0.66077	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.988;0.995;0.989;0.98	D	0.98106	1.0417	10	0.87932	D	0	.	18.8004	0.92015	0.0:1.0:0.0:0.0	.	211;211;211;211	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	M	211;211;211;146;211;146;190	ENSP00000193403:V211M;ENSP00000377941:V211M;ENSP00000414272:V211M;ENSP00000366035:V146M;ENSP00000439828:V211M;ENSP00000450903:V146M;ENSP00000450764:V190M	ENSP00000193403:V211M	V	-	1	0	ACTN1	68441170	1.000000	0.71417	0.994000	0.49952	0.436000	0.31835	7.591000	0.82666	2.752000	0.94435	0.555000	0.69702	GTG	.		0.532	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
GALNT16	57452	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	69792727	69792727	+	Missense_Mutation	SNP	G	G	A	rs138742665	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:69792727G>A	ENST00000337827.4	+	5	878	c.551G>A	c.(550-552)cGc>cAc	p.R184H	GALNT16_ENST00000448469.3_Missense_Mutation_p.R184H|GALNT16_ENST00000553669.1_Missense_Mutation_p.R184H	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	184	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AAGTGCCTGCGCAATGATCGG	0.582													G|||	4	0.000798722	0.0008	0.0	5008	,	,		22859	0.002		0.001	False		,,,				2504	0.0				p.R184H		.											.	.	0			c.G551A						.	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	127.0	107.0	113.0		551,551	4.8	1.0	14	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense	GALNTL1	NM_001168368.1,NM_020692.2	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	184/559,184/559	69792727	2,13004	2203	4300	6503	SO:0001583	missense	57452	exon5			GCCTGCGCAATGA	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.551G>A	14.37:g.69792727G>A	ENSP00000336729:p.Arg184His	149	0		264	14	NM_001168368	0	0	2	2	0	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.4	4.531610	0.85706	4.54E-4	0.0	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.64085	-0.08;-0.08;-0.08	5.66	4.76	0.60689	Glycosyl transferase, family 2 (1);	0.104785	0.64402	D	0.000004	T	0.61602	0.2360	M	0.74389	2.26	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.16289	0.015;0.015	T	0.63941	-0.6523	10	0.59425	D	0.04	.	13.6863	0.62517	0.0747:0.0:0.9253:0.0	.	184;184	Q8N428;Q58A55	GLTL1_HUMAN;.	H	184	ENSP00000336729:R184H;ENSP00000402970:R184H;ENSP00000451200:R184H	ENSP00000336729:R184H	R	+	2	0	GALNTL1	68862480	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.868000	0.69605	2.672000	0.90937	0.655000	0.94253	CGC	G|1.000;A|0.000		0.582	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
PCNX	22990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	71575457	71575457	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:71575457G>A	ENST00000304743.2	+	34	6884	c.6438G>A	c.(6436-6438)gtG>gtA	p.V2146V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Silent_p.V2035V|PCNX_ENST00000238570.5_Silent_p.V2074V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2146	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGGGTTTGTGCCTTGTCGGC	0.552																																					p.V2146V		.											.	PCNX-91	0			c.G6438A						.																																			SO:0001819	synonymous_variant	22990	exon34			GTTTGTGCCTTGT	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6438G>A	14.37:g.71575457G>A		173	0		283	60	NM_014982	0	0	17	18	1	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	0.506	-0.868834	0.02570	.	.	ENSG00000100731	ENST00000554691	.	.	.	6.03	1.91	0.25777	.	.	.	.	.	T	0.52224	0.1721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44034	-0.9354	4	.	.	.	.	5.5906	0.17299	0.1258:0.1127:0.6448:0.1166	.	.	.	.	Y	1133	.	.	C	+	2	0	PCNX	70645210	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	3.410000	0.52664	0.877000	0.35895	-0.319000	0.08680	TGC	.		0.552	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
ACOT2	10965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	74040291	74040291	+	Silent	SNP	C	C	T	rs376931985		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:74040291C>T	ENST00000238651.5	+	2	1025	c.843C>T	c.(841-843)ccC>ccT	p.P281P	ACOT2_ENST00000538782.1_Silent_p.P84P	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.P281P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TCAGTCATCCCGAGGTTAGTT	0.433																																					p.P281P		.											.	ACOT2-91	1	Substitution - coding silent(1)	lung(1)	c.C843T						.	T		1,4405	2.1+/-5.4	0,1,2202	182.0	154.0	163.0		843	-5.8	0.6	14		163	0,8600		0,0,4300	no	coding-synonymous	ACOT2	NM_006821.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/484	74040291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10965	exon2			TCATCCCGAGGTT	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.843C>T	14.37:g.74040291C>T		185	0		294	49	NM_006821	0	0	0	0	0	Q3I5F8|Q53EK4|Q9NUX4	Silent	SNP	ENST00000238651.5	37	CCDS9816.1																																																																																			.		0.433	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821	
SAMD15	161394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	77845328	77845328	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:77845328C>T	ENST00000216471.4	+	1	1853	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	523										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTGAAGGAACGGGTCTCTGA	0.433																																					p.R523W		.											.	SAMD15-90	0			c.C1567T						.						90.0	87.0	88.0					14																	77845328		2203	4300	6503	SO:0001583	missense	161394	exon1			AAGGAACGGGTCT	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1567C>T	14.37:g.77845328C>T	ENSP00000216471:p.Arg523Trp	250	0		303	64	NM_001010860	0	0	1	1	0	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553524	0.27739	.	.	ENSG00000100583	ENST00000216471	T	0.18960	2.18	5.04	-0.556	0.11803	.	2.126120	0.03051	N	0.154613	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.09377	0.004	T	0.20140	-1.0284	10	0.66056	D	0.02	0.4195	0.9146	0.01301	0.3155:0.3463:0.1541:0.184	.	523	Q9P1V8	SAM15_HUMAN	W	523	ENSP00000216471:R523W	ENSP00000216471:R523W	R	+	1	2	SAMD15	76915081	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.192000	0.09587	-0.095000	0.12351	0.462000	0.41574	CGG	.		0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
ZC3H14	79882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	89069362	89069362	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:89069362C>T	ENST00000251038.5	+	12	1930	c.1705C>T	c.(1705-1707)Ctg>Ttg	p.L569L	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000555755.1_Silent_p.L569L|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Silent_p.L544L|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555900.1_Silent_p.L271L|ZC3H14_ENST00000556945.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	569						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTTGCACTTGCTGAGCAGGCA	0.493																																					p.L569L		.											.	ZC3H14-93	0			c.C1705T						.						132.0	120.0	124.0					14																	89069362		2203	4300	6503	SO:0001819	synonymous_variant	79882	exon12			CACTTGCTGAGCA	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1705C>T	14.37:g.89069362C>T		113	0		151	62	NM_001160104	0	0	7	13	6	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	CCDS32133.1																																																																																			.		0.493	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
PSMC1	5700	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	90730133	90730137	+	Frame_Shift_Del	DEL	TTTCA	TTTCA	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	TTTCA	TTTCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:90730133_90730137delTTTCA	ENST00000261303.8	+	5	510_514	c.407_411delTTTCA	c.(406-411)ctttcafs	p.LS136fs	PSMC1_ENST00000543772.2_Frame_Shift_Del_p.LS63fs	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GTCAGCATTCTTTCATTTGTAGACA	0.493																																					p.136_137del		.											.	PSMC1-90	0			c.407_411del						.																																			SO:0001589	frameshift_variant	5700	exon5			GCATTCTTTCATT	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.407_411delTTTCA	14.37:g.90730133_90730137delTTTCA	ENSP00000261303:p.Leu136fs	194	0		285	62	NM_002802	0	0	0	0	0	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Frame_Shift_Del	DEL	ENST00000261303.8	37	CCDS32139.1																																																																																			.		0.493	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802	
PPP4R4	57718	broad.mit.edu;ucsc.edu	37	14	94741742	94741742	+	Silent	SNP	C	C	T	rs114442446		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:94741742C>T	ENST00000304338.3	+	24	2635	c.2481C>T	c.(2479-2481)agC>agT	p.S827S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	827					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATGCCAGTAGCGTTCCATCTT	0.418																																					p.S827S		.											.	PPP4R4-94	0			c.C2481T						.						255.0	241.0	246.0					14																	94741742		2203	4300	6503	SO:0001819	synonymous_variant	57718	exon24			CAGTAGCGTTCCA	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2481C>T	14.37:g.94741742C>T		132	2		209	32	NM_058237	0	0	0	0	0	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																			C|0.999;A|0.001		0.418	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SYNE3	161176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	95884311	95884311	+	Missense_Mutation	SNP	G	G	A	rs142276866		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:95884311G>A	ENST00000334258.5	-	17	2794	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V	SYNE3_ENST00000554873.1_Missense_Mutation_p.A684V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A922V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	927	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						cagtgggagcGCCACACAGCA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14739	0.0		0.0	False		,,,				2504	0.0				p.A927V		.											.	.	0			c.C2780T						.	G	VAL/ALA	7,4399	14.3+/-33.2	0,7,2196	66.0	58.0	61.0		2780	4.7	0.9	14	dbSNP_134	61	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	927/976	95884311	7,12999	2203	4300	6503	SO:0001583	missense	161176	exon17			GGGAGCGCCACAC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2780C>T	14.37:g.95884311G>A	ENSP00000334308:p.Ala927Val	41	0		182	81	NM_152592	0	0	0	0	0	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.94	3.920173	0.73098	0.001589	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.35421	1.31;1.31;1.31	4.67	4.67	0.58626	Klarsicht/ANC-1/syne-1 homology (2);	0.000000	0.36854	U	0.002364	T	0.49643	0.1569	M	0.87180	2.865	0.80722	D	1	P;P	0.39624	0.63;0.681	B;B	0.40256	0.217;0.324	T	0.63042	-0.6725	10	0.72032	D	0.01	-10.8223	17.1517	0.86780	0.0:0.0:1.0:0.0	.	922;927	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	V	927;684;922	ENSP00000334308:A927V;ENSP00000452154:A684V;ENSP00000450562:A922V	ENSP00000334308:A927V	A	-	2	0	C14orf49	94954064	1.000000	0.71417	0.881000	0.34555	0.915000	0.54546	6.435000	0.73412	2.144000	0.66660	0.289000	0.19496	GCG	G|1.000;A|0.000		0.657	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
DEGS2	123099	hgsc.bcm.edu	37	14	100615855	100615855	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:100615855G>A	ENST00000305631.5	-	2	850	c.275C>T	c.(274-276)tCg>tTg	p.S92L	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CGCGTTGTGCGAGATGTCGTG	0.697																																					p.S92L		.											.	DEGS2-90	0			c.C275T						.						25.0	25.0	25.0					14																	100615855		2191	4292	6483	SO:0001583	missense	123099	exon2			TTGTGCGAGATGT		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.275C>T	14.37:g.100615855G>A	ENSP00000307126:p.Ser92Leu	0	0		39	4	NM_206918	0	0	0	0	0		Missense_Mutation	SNP	ENST00000305631.5	37	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299912	0.81136	.	.	ENSG00000168350	ENST00000305631	T	0.15718	2.4	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72510	-0.4271	10	0.72032	D	0.01	-12.7036	17.3127	0.87214	0.0:0.0:1.0:0.0	.	92	Q6QHC5	DEGS2_HUMAN	L	92	ENSP00000307126:S92L	ENSP00000307126:S92L	S	-	2	0	DEGS2	99685608	1.000000	0.71417	0.940000	0.37924	0.409000	0.31022	9.748000	0.98867	2.154000	0.67381	0.561000	0.74099	TCG	.		0.697	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918	
ZNF839	55778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	102793112	102793112	+	Missense_Mutation	SNP	C	C	T	rs547521174	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:102793112C>T	ENST00000558850.1	+	2	1081	c.731C>T	c.(730-732)aCg>aTg	p.T244M	ZNF839_ENST00000262236.5_Missense_Mutation_p.T244M|ZNF839_ENST00000442396.2_Missense_Mutation_p.T360M|ZNF839_ENST00000559185.1_Missense_Mutation_p.T244M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	244							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGGGGTGCACGGAGGAAAGG	0.632													C|||	6	0.00119808	0.0	0.0	5008	,	,		15834	0.005		0.001	False		,,,				2504	0.0				p.T360M		.											.	ZNF839-91	0			c.C1079T						.						19.0	20.0	20.0					14																	102793112		1969	4158	6127	SO:0001583	missense	55778	exon2			GGTGCACGGAGGA	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.731C>T	14.37:g.102793112C>T	ENSP00000453363:p.Thr244Met	62	0		145	68	NM_018335	0	0	1	3	2	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154121	0.38021	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42900	0.96;0.96	4.1	-5.93	0.02254	.	.	.	.	.	T	0.20700	0.0498	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.29862	0.259;0.109;0.109;0.109	B;B;B;B	0.14578	0.011;0.007;0.01;0.007	T	0.09862	-1.0655	9	0.48119	T	0.1	.	4.5163	0.11937	0.2421:0.2868:0.0:0.4712	.	360;244;123;244	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	360;244	ENSP00000399863:T360M;ENSP00000262236:T244M	ENSP00000262236:T244M	T	+	2	0	ZNF839	101862865	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.511000	0.00958	-1.347000	0.02208	-0.302000	0.09304	ACG	.		0.632	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335	
PPP1R13B	23368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	104205313	104205313	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:104205313G>A	ENST00000202556.9	-	13	2922	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.H299H	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	880					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTCTCAGCCCGTGCCCCGTCC	0.557																																					p.H880H		.											.	PPP1R13B-227	0			c.C2640T						.						109.0	118.0	115.0					14																	104205313		1993	4167	6160	SO:0001819	synonymous_variant	23368	exon13			CAGCCCGTGCCCC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2640C>T	14.37:g.104205313G>A		103	0		160	82	NM_015316	0	0	6	21	15	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	CCDS41997.1																																																																																			.		0.557	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
KIF26A	26153	hgsc.bcm.edu	37	14	104642489	104642489	+	Missense_Mutation	SNP	G	G	T	rs117573425	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:104642489G>T	ENST00000423312.2	+	12	3364	c.3364G>T	c.(3364-3366)Gcc>Tcc	p.A1122S	KIF26A_ENST00000315264.7_Missense_Mutation_p.A983S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTCTGCACTGCCGACAGCCG	0.736													G|||	127	0.0253594	0.0008	0.0245	5008	,	,		12093	0.001		0.0328	False		,,,				2504	0.0767				p.A1122S		.											.	KIF26A-24	0			c.G3364T						.	G	SER/ALA	28,3808		0,28,1890	4.0	6.0	5.0		3364	0.2	0.0	14	dbSNP_132	5	273,7813		1,271,3771	yes	missense	KIF26A	NM_015656.1	99	1,299,5661	TT,TG,GG		3.3762,0.7299,2.5247	benign	1122/1883	104642489	301,11621	1918	4043	5961	SO:0001583	missense	26153	exon12			TGCACTGCCGACA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3364G>T	14.37:g.104642489G>T	ENSP00000388241:p.Ala1122Ser	0	0		22	17	NM_015656	0	0	5	9	4	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	CCDS45171.1	37	0.01694139194139194	2	0.0040650406504065045	6	0.016574585635359115	5	0.008741258741258742	24	0.0316622691292876	G	0.014	-1.598065	0.00857	0.007299	0.033762	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78003	-1.14;-1.14	3.58	0.221	0.15283	.	.	.	.	.	T	0.25865	0.0630	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14504	-1.0470	9	0.10636	T	0.68	.	0.0959	0.00044	0.2731:0.248:0.2329:0.2461	.	1122	Q9ULI4	KI26A_HUMAN	S	1122;983	ENSP00000388241:A1122S;ENSP00000325452:A983S	ENSP00000325452:A983S	A	+	1	0	KIF26A	103712242	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.235000	0.09016	0.195000	0.20347	0.313000	0.20887	GCC	G|0.982;T|0.018		0.736	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
CASC5	57082	bcgsc.ca	37	15	40914772	40914772	+	Silent	SNP	C	C	T	rs11855334	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:40914772C>T	ENST00000346991.5	+	11	2778	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	CASC5_ENST00000399668.2_Silent_p.V770V|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	796					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V796V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCCACACTGTCGTCATTGGAT	0.388													T|||	1757	0.350839	0.348	0.3285	5008	,	,		21039	0.254		0.3986	False		,,,				2504	0.4213				p.V796V		.											.	CASC5-660	1	Substitution - coding silent(1)	stomach(1)	c.C2388T						.	T	,	1367,2429		266,835,797	75.0	67.0	69.0		2310,2388	3.6	0.8	15	dbSNP_120	69	3321,4907		682,1957,1475	no	coding-synonymous,coding-synonymous	CASC5	NM_144508.3,NM_170589.3	,	948,2792,2272	TT,TC,CC		40.3622,36.0116,38.9887	,	770/2317,796/2343	40914772	4688,7336	1898	4114	6012	SO:0001819	synonymous_variant	57082	exon11			CACTGTCGTCATT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2388C>T	15.37:g.40914772C>T		272	4		199	7	NM_170589	0	0	0	0	0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																			C|0.632;T|0.368		0.388	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
LACTB	114294	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	63433897	63433897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:63433897delC	ENST00000261893.4	+	6	1609	c.1537delC	c.(1537-1539)cccfs	p.P514fs	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	514						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TAACAAGGTTCCCCCAAGAGG	0.443																																					p.P513fs	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.1537delC						.						55.0	51.0	53.0					15																	63433897		2203	4300	6503	SO:0001589	frameshift_variant	114294	exon6			AAGGTTCCCCCAA	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1537delC	15.37:g.63433897delC	ENSP00000261893:p.Pro514fs	93	0		76	32	NM_032857	0	0	0	0	0	P83096	Frame_Shift_Del	DEL	ENST00000261893.4	37	CCDS10182.1																																																																																			.		0.443	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
ACSBG1	23205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	78466041	78466041	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:78466041G>A	ENST00000258873.4	-	13	2188	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	ACSBG1_ENST00000560817.1_Silent_p.I419I|ACSBG1_ENST00000541759.1_Silent_p.I419I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	661					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCCCTCTTCGATGGCCTGGT	0.582																																					p.I661I		.											.	ACSBG1-91	0			c.C1983T						.						114.0	92.0	99.0					15																	78466041		2196	4293	6489	SO:0001819	synonymous_variant	23205	exon13			CTCTTCGATGGCC	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1983C>T	15.37:g.78466041G>A		105	0		78	35	NM_015162	0	0	0	0	0	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																			.		0.582	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79051801	79051801	+	Missense_Mutation	SNP	C	C	A	rs201472223		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:79051801C>A	ENST00000388820.4	-	24	5233	c.5023G>T	c.(5023-5025)Gcc>Tcc	p.A1675S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1675					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGAGGGGGCGCCGTGGCTG	0.721																																					p.A1675S		.											.	ADAMTS7-226	0			c.G5023T						.						7.0	9.0	9.0					15																	79051801		2082	4133	6215	SO:0001583	missense	11173	exon24			AGGGGGCGCCGTG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.5023G>T	15.37:g.79051801C>A	ENSP00000373472:p.Ala1675Ser	0	0		8	5	NM_014272	0	0	21	21	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	1.406	-0.576936	0.03854	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	2.92	0.947	0.19555	.	2.418420	0.02155	U	0.058341	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B	0.25007	0.116	B	0.23150	0.044	T	0.16600	-1.0397	10	0.09590	T	0.72	.	6.0212	0.19630	0.0:0.7622:0.0:0.2378	.	1675	Q9UKP4	ATS7_HUMAN	S	1675	ENSP00000373472:A1675S	ENSP00000373472:A1675S	A	-	1	0	ADAMTS7	76838856	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.624000	0.24462	0.111000	0.17947	-2.153000	0.00332	GCC	.		0.721	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
AP3B2	8120	bcgsc.ca	37	15	83328678	83328678	+	Missense_Mutation	SNP	C	C	T	rs200505090		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:83328678C>T	ENST00000261722.3	-	25	3224	c.3017G>A	c.(3016-3018)cGg>cAg	p.R1006Q	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R1025Q|AP3B2_ENST00000535348.1_Missense_Mutation_p.R974Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1006					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGGTCACTCCGACAGGTGTC	0.542																																					p.R1006Q		.											.	AP3B2-94	0			c.G3017A						.	C	GLN/ARG	0,4128		0,0,2064	127.0	116.0	119.0		3017	1.9	1.0	15		119	1,8413		0,1,4206	yes	missense	AP3B2	NM_004644.3	43	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	benign	1006/1083	83328678	1,12541	2064	4207	6271	SO:0001583	missense	8120	exon25			TCACTCCGACAGG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3017G>A	15.37:g.83328678C>T	ENSP00000261722:p.Arg1006Gln	149	2		131	38	NM_004644	0	0	2	2	0	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292212	0.23564	0.0	1.19E-4	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.53423	0.62;0.62;0.62	5.13	1.94	0.25998	.	0.288335	0.33732	N	0.004613	T	0.30103	0.0754	L	0.44542	1.39	0.28607	N	0.908871	B;B;B	0.31077	0.307;0.001;0.001	B;B;B	0.23716	0.048;0.001;0.001	T	0.15321	-1.0441	10	0.13108	T	0.6	-19.0326	6.8286	0.23897	0.0:0.5669:0.133:0.3002	.	974;1025;1006	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	Q	1006;974;1025	ENSP00000261722:R1006Q;ENSP00000438721:R974Q;ENSP00000440984:R1025Q	ENSP00000261722:R1006Q	R	-	2	0	AP3B2	81125733	0.001000	0.12720	0.997000	0.53966	0.584000	0.36387	-0.156000	0.10100	0.568000	0.29311	0.462000	0.41574	CGG	.		0.542	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
BNC1	646	broad.mit.edu	37	15	83932513	83932513	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:83932513G>A	ENST00000345382.2	-	4	1575	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M	BNC1_ENST00000569704.1_Missense_Mutation_p.T490M|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	497					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCGGCAGGCGTGGCTGGACT	0.517																																					p.T497M		.											.	BNC1-93	0			c.C1490T						.						67.0	58.0	61.0					15																	83932513		2203	4300	6503	SO:0001583	missense	646	exon4			GCAGGCGTGGCTG	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1490C>T	15.37:g.83932513G>A	ENSP00000307041:p.Thr497Met	282	0		219	6	NM_001717	0	0	0	0	0	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814792	0.70912	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.53640	0.61	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	T	0.73164	-0.4069	10	0.87932	D	0	-21.5415	19.4213	0.94723	0.0:0.0:1.0:0.0	.	490;497	F5GY04;Q01954	.;BNC1_HUMAN	M	497;490	ENSP00000307041:T497M	ENSP00000307041:T497M	T	-	2	0	BNC1	81723517	1.000000	0.71417	0.973000	0.42090	0.890000	0.51754	9.787000	0.99055	2.589000	0.87451	0.655000	0.94253	ACG	.		0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
ACAN	176	bcgsc.ca	37	15	89398631	89398631	+	Missense_Mutation	SNP	T	T	A	rs938609	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:89398631T>A	ENST00000561243.1	+	11	2815	c.2815T>A	c.(2815-2817)Tct>Act	p.S939T	ACAN_ENST00000439576.2_Missense_Mutation_p.S939T|ACAN_ENST00000352105.7_Missense_Mutation_p.S939T|ACAN_ENST00000559004.1_Missense_Mutation_p.S939T			P16112	PGCA_HUMAN	aggrecan	938	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S939T(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAACTGCCCTCTGGAGCTGA	0.562													T|||	1964	0.392173	0.3389	0.3804	5008	,	,		19067	0.2073		0.6521	False		,,,				2504	0.3957				p.S939T		.											.	ACAN-25	1	Substitution - Missense(1)	stomach(1)	c.T2815A						.	T	THR/SER,THR/SER	1491,2313		281,929,692	54.0	59.0	57.0		2815,2815	1.2	0.2	15	dbSNP_86	57	5335,2901		1718,1899,501	yes	missense,missense	ACAN	NM_001135.3,NM_013227.3	58,58	1999,2828,1193	AA,AT,TT		35.2234,39.1956,43.3056	probably-damaging,probably-damaging	939/2432,939/2531	89398631	6826,5214	1902	4118	6020	SO:0001583	missense	176	exon12			CTGCCCTCTGGAG	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2815T>A	15.37:g.89398631T>A	ENSP00000453342:p.Ser939Thr	110	0		80	4	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	929	0.42536630036630035	156	0.3170731707317073	166	0.4585635359116022	101	0.17657342657342656	506	0.6675461741424802	T	14.92	2.678067	0.47886	0.391956	0.647766	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97186	-4.28;-4.28	4.89	1.18	0.20946	.	.	.	.	.	T	0.00012	0.0000	M	0.63843	1.955	0.58432	P	5.000000000032756E-6	D;D	0.63046	0.992;0.992	P;P	0.55577	0.779;0.779	T	0.45056	-0.9287	8	0.18276	T	0.48	-0.2641	4.2498	0.10689	0.3539:0.0882:0.0:0.558	rs938609;rs17790663;rs938609	939;939	E7ENV9;E7EX88	.;.	T	939	ENSP00000387356:S939T;ENSP00000341615:S939T	ENSP00000268134:S939T	S	+	1	0	ACAN	87199635	0.000000	0.05858	0.188000	0.23233	0.595000	0.36748	-0.086000	0.11233	0.018000	0.15052	0.460000	0.39030	TCT	T|0.540;A|0.460		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
POLG	5428	bcgsc.ca	37	15	89868870	89868870	+	Missense_Mutation	SNP	G	G	A	rs113994096	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:89868870G>A	ENST00000268124.5	-	10	2093	c.1760C>T	c.(1759-1761)cCg>cTg	p.P587L	POLG_ENST00000442287.2_Missense_Mutation_p.P587L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	587			P -> L (in PEOB, MTDPS4A and MTDPS4B; dbSNP:rs113994096). {ECO:0000269|PubMed:12825077, ECO:0000269|PubMed:12975295, ECO:0000269|PubMed:14635118, ECO:0000269|PubMed:15349879, ECO:0000269|PubMed:15689359, ECO:0000269|PubMed:18828154}.		aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGGGGCCCGGGGTCCATGC	0.612								DNA polymerases (catalytic subunits)					G|||	4	0.000798722	0.0	0.0014	5008	,	,		16005	0.0		0.003	False		,,,				2504	0.0				p.P587L	Colon(73;648 1203 11348 18386 27782)	.											.	POLG-228	0			c.C1760T	GRCh37	CM031330	POLG	M	rs113994096	.	G	LEU/PRO,LEU/PRO	0,4400		0,0,2200	62.0	59.0	60.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1760,1760	4.0	0.8	15	dbSNP_132	60	29,8569	19.8+/-62.0	0,29,4270	yes	missense,missense	POLG	NM_001126131.1,NM_002693.2	98,98	0,29,6470	AA,AG,GG		0.3373,0.0,0.2231	probably-damaging,probably-damaging	587/1240,587/1240	89868870	29,12969	2200	4299	6499	SO:0001583	missense	5428	exon10			GGGCCCGGGGTCC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1760C>T	15.37:g.89868870G>A	ENSP00000268124:p.Pro587Leu	68	0		82	5	NM_002693	0	0	5	5	0	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.21	3.783933	0.70222	0.0	0.003373	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.96522	-4.04;-4.04;-3.32	4.99	4.04	0.47022	.	0.053217	0.85682	D	0.000000	D	0.97321	0.9124	L	0.58101	1.795	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98595	1.0656	9	0.87932	D	0	-16.9278	14.3641	0.66792	0.0:0.0:0.8506:0.1494	.	587	P54098	DPOG1_HUMAN	L	587;587;43	ENSP00000268124:P587L;ENSP00000399851:P587L;ENSP00000432389:P43L	ENSP00000268124:P587L	P	-	2	0	POLG	87669874	1.000000	0.71417	0.755000	0.31263	0.444000	0.32077	9.864000	0.99589	1.035000	0.39972	0.561000	0.74099	CCG	G|0.998;A|0.002		0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
CRTC3	64784	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	91184391	91184391	+	Silent	SNP	G	G	A	rs370456941		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:91184391G>A	ENST00000268184.6	+	14	1615	c.1611G>A	c.(1609-1611)ccG>ccA	p.P537P	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.P537P			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	537					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GACCAAGCCCGTATTCCAACT	0.522			T	MAML2	salivary gland mucoepidermoid																																p.P537P		.		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	CRTC3-393	0			c.G1611A						.	G	,	1,4395	2.1+/-5.4	0,1,2197	103.0	85.0	91.0		1611,1611	0.7	1.0	15		91	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CRTC3	NM_001042574.1,NM_022769.3	,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,	537/619,537/620	91184391	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	64784	exon14			AAGCCCGTATTCC		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1611G>A	15.37:g.91184391G>A		130	0		110	45	NM_022769	0	0	4	7	3	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	CCDS32331.1																																																																																			.		0.522	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769	
SSTR5	6755	hgsc.bcm.edu	37	16	1129594	1129594	+	Silent	SNP	G	G	A	rs201314089|rs34388156	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1129594G>A	ENST00000293897.4	+	1	814	c.726G>A	c.(724-726)tcG>tcA	p.S242S	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.S242S|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	242					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGCGGCGCTCGGAGCGGAAGG	0.667													G|||	10	0.00199681	0.0008	0.0	5008	,	,		13320	0.0089		0.0	False		,,,				2504	0.0				p.S242S		.											.	SSTR5-522	0			c.G726A						.	G	,	0,4382		0,0,2191	144.0	127.0	133.0		726,726	-9.5	0.8	16		133	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6486	AA,AG,GG		0.0116,0.0,0.0077	,	242/365,242/365	1129594	1,12973	2191	4296	6487	SO:0001819	synonymous_variant	6755	exon2			GCGCTCGGAGCGG	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.726G>A	16.37:g.1129594G>A		7	0		55	14	NM_001172560	0	0	0	0	0	P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	CCDS10429.1																																																																																			G|0.999;A|0.001		0.667	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
BAIAP3	8938	broad.mit.edu;bcgsc.ca	37	16	1393394	1393394	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1393394G>A	ENST00000324385.5	+	15	1529	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	BAIAP3_ENST00000421665.2_Splice_Site_p.L386L|BAIAP3_ENST00000568887.1_Splice_Site_p.L394L|BAIAP3_ENST00000426824.3_Splice_Site_p.L422L|BAIAP3_ENST00000562208.1_Splice_Site_p.L399L|BAIAP3_ENST00000397489.1_Splice_Site_p.L439L|BAIAP3_ENST00000397488.2_Splice_Site_p.L439L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	457					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			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)				GGCCCCACAGGCACTGGCAGG	0.642																																					p.L457L		.											.	BAIAP3-91	0			c.G1371A						.						11.0	12.0	11.0					16																	1393394		2150	4247	6397	SO:0001630	splice_region_variant	8938	exon15			CCACAGGCACTGG	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.1371-1G>A	16.37:g.1393394G>A		60	1		264	132	NM_003933	0	0	0	0	0	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																			.		0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		Silent
IGFALS	3483	hgsc.bcm.edu	37	16	1841949	1841949	+	Missense_Mutation	SNP	C	C	T	rs199977317		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1841949C>T	ENST00000215539.3	-	2	580	c.470G>A	c.(469-471)cGt>cAt	p.R157H	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000415638.3_Missense_Mutation_p.R195H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	157					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCTGCTCAGACGGTTGTTGCT	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14550	0.001		0.0	False		,,,				2504	0.0				p.R195H		.											.	IGFALS-90	0			c.G584A						.						18.0	16.0	17.0					16																	1841949		2186	4290	6476	SO:0001583	missense	3483	exon2			CTCAGACGGTTGT	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.470G>A	16.37:g.1841949C>T	ENSP00000215539:p.Arg157His	6	0		109	74	NM_001146006	0	0	0	0	0	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.925	-0.714681	0.03206	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.80480	-1.38;-1.38	5.09	-0.192	0.13248	.	0.625226	0.15932	N	0.237619	T	0.65186	0.2667	L	0.33624	1.015	0.27608	N	0.948764	B;B	0.17268	0.021;0.01	B;B	0.14023	0.01;0.003	T	0.50759	-0.8790	10	0.27785	T	0.31	.	5.9819	0.19411	0.5195:0.2384:0.0:0.2421	.	195;157	E9PGU3;P35858	.;ALS_HUMAN	H	157;195	ENSP00000215539:R157H;ENSP00000416683:R195H	ENSP00000215539:R157H	R	-	2	0	IGFALS	1781950	0.216000	0.23585	0.533000	0.28001	0.088000	0.18126	0.677000	0.25262	0.254000	0.21573	-0.425000	0.05940	CGT	C|0.999;T|0.000		0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
TBL3	10607	hgsc.bcm.edu	37	16	2025627	2025627	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2025627A>G	ENST00000568546.1	+	10	1031	c.903A>G	c.(901-903)gcA>gcG	p.A301A		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	301					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCACCCTGGCACACACCGCCG	0.687																																					p.A301A	Melanoma(118;616 1651 35077 38081 48633)	.											.	TBL3-90	0			c.A903G						.						24.0	25.0	25.0					16																	2025627		2197	4295	6492	SO:0001819	synonymous_variant	10607	exon10			CCTGGCACACACC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.903A>G	16.37:g.2025627A>G		0	0		37	20	NM_006453	0	0	5	8	3	Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	CCDS10453.1																																																																																			.		0.687	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	
ZNF598	90850	hgsc.bcm.edu	37	16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	rs71384660		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		5162	1.0		1.0	False		,,,				2504	1.0				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1.0	2.0	2.0					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	0	0		4	4	NM_178167	0	0	0	2	2	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167	
PRSS27	83886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2763556	2763556	+	Missense_Mutation	SNP	C	C	T	rs149957191	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2763556C>T	ENST00000302641.3	-	5	706	c.652G>A	c.(652-654)Gag>Aag	p.E218K	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCCTCCTCGAAGCCGGCG	0.592																																					p.E218K		.											.	PRSS27-91	0			c.G652A						.	C	LYS/GLU	0,4396		0,0,2198	235.0	167.0	190.0		652	5.3	0.2	16	dbSNP_134	190	7,8593		1,5,4294	yes	missense	PRSS27	NM_031948.3	56	1,5,6492	TT,TC,CC		0.0814,0.0,0.0539	benign	218/291	2763556	7,12989	2198	4300	6498	SO:0001583	missense	83886	exon5			CCTCCTCGAAGCC	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.652G>A	16.37:g.2763556C>T	ENSP00000306390:p.Glu218Lys	211	1		358	134	NM_031948	0	0	4	4	0		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.559175	0.00910	0.0	8.14E-4	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.88201	-2.35	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242364	0.28877	N	0.013852	T	0.76026	0.3930	L	0.33189	0.99	0.09310	N	1	P;P	0.43412	0.557;0.806	B;B	0.31337	0.065;0.128	T	0.68765	-0.5322	10	0.06099	T	0.92	.	9.9045	0.41368	0.0:0.907:0.0:0.093	.	218;182	Q9BQR3;B3KP25	PRS27_HUMAN;.	K	218;182	ENSP00000306390:E218K	ENSP00000306390:E218K	E	-	1	0	PRSS27	2703557	0.001000	0.12720	0.153000	0.22517	0.056000	0.15407	1.311000	0.33562	2.460000	0.83146	0.442000	0.29010	GAG	C|0.999;T|0.001		0.592	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948	
HMOX2	3163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4558130	4558130	+	Silent	SNP	C	C	T	rs186971432		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:4558130C>T	ENST00000570646.1	+	4	1226	c.621C>T	c.(619-621)aaC>aaT	p.N207N	HMOX2_ENST00000458134.3_Silent_p.N207N|HMOX2_ENST00000406590.2_Silent_p.N207N|HMOX2_ENST00000398595.3_Silent_p.N207N|HMOX2_ENST00000414777.1_Silent_p.N207N|HMOX2_ENST00000575120.1_Silent_p.N178N|HMOX2_ENST00000219700.6_Silent_p.N207N	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	207					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAGGATGAACGCCCTGGACC	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21471	0.0		0.0	False		,,,				2504	0.0				p.N207N		.											.	HMOX2-90	0			c.C621T						.						69.0	66.0	67.0					16																	4558130		2197	4300	6497	SO:0001819	synonymous_variant	3163	exon4			GATGAACGCCCTG		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.621C>T	16.37:g.4558130C>T		497	2		724	294	NM_001127205	0	0	36	64	28	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	CCDS10517.1																																																																																			C|0.999;T|0.000		0.542	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2		
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs201504364		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000327307.7_5'Flank|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637																																					p.P11S		.											.	RRN3-91	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C31T						.						15.0	14.0	14.0					16																	15188060		2193	4294	6487	SO:0001583	missense	54700	exon1			CTCCCGGCAAACG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.31C>T	16.37:g.15188060G>A	ENSP00000198767:p.Pro11Ser	87	0		303	13	NM_018427	0	0	4	4	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323150	0.24080	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.46819	1.02;0.86	3.13	0.948	0.19561	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.06494	T	0.89	.	3.8332	0.08883	0.1556:0.2546:0.5898:0.0	.	11;11;11	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	S	11	ENSP00000198767:P11S;ENSP00000402027:P11S	ENSP00000198767:P11S	P	-	1	0	RRN3	15095561	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.733000	0.26087	0.121000	0.18284	0.305000	0.20034	CCG	G|0.997;A|0.003		0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
RRN3	54700	broad.mit.edu	37	16	15188066	15188066	+	Missense_Mutation	SNP	G	G	A	rs200006712		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:15188066G>A	ENST00000198767.6	-	1	108	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.R9C|RRN3_ENST00000327307.7_5'Flank|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000429751.2_Missense_Mutation_p.R9C|RRN3_ENST00000563559.1_Missense_Mutation_p.R9C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	9					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R9C(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CCCGGCAAACGCGTGTGAAGC	0.642																																					p.R9C		.											.	RRN3-91	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C25T						.						15.0	13.0	14.0					16																	15188066		2194	4290	6484	SO:0001583	missense	54700	exon1			GCAAACGCGTGTG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.25C>T	16.37:g.15188066G>A	ENSP00000198767:p.Arg9Cys	75	0		285	14	NM_018427	0	0	2	2	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712820	0.68730	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.59906	0.68;0.23	3.13	3.13	0.36017	.	.	.	.	.	T	0.59032	0.2164	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.982	T	0.62627	-0.6814	9	0.87932	D	0	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	9;9;9	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	C	9	ENSP00000198767:R9C;ENSP00000402027:R9C	ENSP00000198767:R9C	R	-	1	0	RRN3	15095567	1.000000	0.71417	0.965000	0.40720	0.035000	0.12851	2.717000	0.47227	1.752000	0.51891	0.305000	0.20034	CGT	G|0.997;A|0.003		0.642	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																					p.H546R		.											.	SMG1-1160	3	Substitution - Missense(3)	kidney(2)|skin(1)	c.A1637G						.						16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049	exon13			ACAGCATGGGCTA	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg	76	1		96	10	NM_015092	0	0	12	15	3	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT	T|0.640;C|0.360		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SYT17	51760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	19194969	19194969	+	Missense_Mutation	SNP	G	G	A	rs371789759		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:19194969G>A	ENST00000355377.2	+	5	849	c.451G>A	c.(451-453)Gac>Aac	p.D151N	SYT17_ENST00000562711.2_Missense_Mutation_p.D147N|SYT17_ENST00000562034.1_Missense_Mutation_p.D90N|SYT17_ENST00000568115.1_Missense_Mutation_p.D90N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	151					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTATAACCCCGACGACTATTT	0.537																																					p.D151N		.											.	SYT17-69	0			c.G451A						.		ASN/ASP	1,4393	2.1+/-5.4	0,1,2196	87.0	78.0	81.0		451	5.5	0.6	16		81	0,8600		0,0,4300	no	missense	SYT17	NM_016524.2	23	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	151/475	19194969	1,12993	2197	4300	6497	SO:0001583	missense	51760	exon5			AACCCCGACGACT		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.451G>A	16.37:g.19194969G>A	ENSP00000347538:p.Asp151Asn	146	2		299	144	NM_016524	0	0	0	6	6	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	18.89	3.718613	0.68844	2.28E-4	0.0	ENSG00000103528	ENST00000355377	T	0.18960	2.18	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.14098	0.0341	L	0.27053	0.805	0.80722	D	1	P;P	0.48640	0.553;0.913	B;B	0.31191	0.037;0.125	T	0.04737	-1.0930	10	0.35671	T	0.21	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	151;90	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	151	ENSP00000347538:D151N	ENSP00000347538:D151N	D	+	1	0	SYT17	19102470	1.000000	0.71417	0.648000	0.29521	0.845000	0.48019	7.206000	0.77891	2.573000	0.86826	0.556000	0.70494	GAC	.		0.537	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	
ARHGAP17	55114	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	24950845	24950845	+	Missense_Mutation	SNP	C	C	T	rs145791095	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:24950845C>T	ENST00000289968.6	-	17	1633	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	522	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCTGGAAAGCGGGGGATATG	0.602													C|||	24	0.00479233	0.0	0.0014	5008	,	,		14811	0.001		0.002	False		,,,				2504	0.0204				p.A522T		.											.	ARHGAP17-227	0			c.G1564A						.	C	THR/ALA,	4,4386		0,4,2191	22.0	26.0	25.0		1564,	3.0	0.7	16	dbSNP_134	25	51,8547		0,51,4248	yes	missense,intron	ARHGAP17	NM_001006634.1,NM_018054.4	58,	0,55,6439	TT,TC,CC		0.5932,0.0911,0.4235	benign,	522/882,	24950845	55,12933	2195	4299	6494	SO:0001583	missense	55114	exon17			GGAAAGCGGGGGA	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1564G>A	16.37:g.24950845C>T	ENSP00000289968:p.Ala522Thr	51	0		110	53	NM_001006634	0	0	3	4	1	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	13.49	2.253426	0.39797	9.11E-4	0.005932	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.21932	1.98	5.0	3.05	0.35203	.	0.000000	0.44097	D	0.000482	T	0.12817	0.0311	L	0.57536	1.79	0.80722	D	1	B;B	0.26577	0.112;0.153	B;B	0.23419	0.01;0.046	T	0.04650	-1.0936	10	0.25106	T	0.35	.	6.9887	0.24743	0.0:0.7263:0.0:0.2737	.	522;55	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	T	522	ENSP00000289968:A522T	ENSP00000289968:A522T	A	-	1	0	ARHGAP17	24858346	0.990000	0.36364	0.654000	0.29608	0.914000	0.54420	2.859000	0.48364	0.697000	0.31718	0.655000	0.94253	GCT	C|0.997;T|0.003		0.602	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	
LCMT1	51451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	25151548	25151548	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:25151548G>A	ENST00000399069.3	+	4	539	c.384G>A	c.(382-384)acG>acA	p.T128T	RP11-266L9.2_ENST00000565214.1_RNA|LCMT1_ENST00000380966.4_Silent_p.T128T|RP11-266L9.2_ENST00000562280.1_RNA	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	128					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TGATTGTCACGAGAAAGCTGC	0.403																																					p.T128T	Colon(200;565 2072 24396 47922 50898)	.											.	LCMT1-22	0			c.G384A						.						91.0	82.0	85.0					16																	25151548		1885	4113	5998	SO:0001819	synonymous_variant	51451	exon4			TGTCACGAGAAAG	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.384G>A	16.37:g.25151548G>A		130	0		142	62	NM_016309	0	0	11	16	5	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	CCDS45445.1																																																																																			.		0.403	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	
KIAA0556	23247	broad.mit.edu;bcgsc.ca	37	16	27782957	27782957	+	Silent	SNP	G	G	A	rs202124589		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18869	0.001		0.0	False		,,,				2504	0.0				p.P1394P		.											.	KIAA0556-141	4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	c.G4182A						.						161.0	126.0	138.0					16																	27782957		2197	4300	6497	SO:0001819	synonymous_variant	23247	exon22			GGCACCGCTGATG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4182G>A	16.37:g.27782957G>A		102	1		156	31	NM_015202	0	0	0	0	0	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			G|0.999;A|0.000		0.607	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:28847350delG	ENST00000336783.4	+	22	3159	c.2992delG	c.(2992-2994)gggfs	p.G999fs	ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	999					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGAGTCATGGGGGGCCCCC	0.682																																					p.G998fs		.											.	ATXN2L-92	0			c.2992delG						.		,,,,	15,4019		5,5,2007	31.0	40.0	37.0		,,,,	4.8	1.0	16		37	7,7989		1,5,3992	no	frameshift,frameshift,frameshift,frameshift,frameshift	ATXN2L	NM_148416.1,NM_148415.1,NM_148414.1,NM_145714.1,NM_007245.2	,,,,	6,10,5999	A1A1,A1R,RR		0.0875,0.3718,0.1829	,,,,	,,,,	28847350	22,12008	2119	4220	6339	SO:0001589	frameshift_variant	11273	exon22			AGTCATGGGGGGC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2992delG	16.37:g.28847350delG	ENSP00000338718:p.Gly999fs	7	0		35	12	NM_148414	0	0	0	0	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	CCDS10641.1																																																																																			.		0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
TAOK2	9344	broad.mit.edu;bcgsc.ca	37	16	29994575	29994575	+	Silent	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:29994575T>C	ENST00000308893.4	+	12	2225	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	TAOK2_ENST00000416441.2_Silent_p.P221P|TAOK2_ENST00000543033.1_Silent_p.P394P|TAOK2_ENST00000279394.3_Silent_p.P394P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	394	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						aagaAGGCCCTGAAGCCCGGG	0.617																																					p.P394P		.											.	TAOK2-521	0			c.T1182C						.						47.0	44.0	45.0					16																	29994575		2197	4300	6497	SO:0001819	synonymous_variant	9344	exon12			AGGCCCTGAAGCC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1182T>C	16.37:g.29994575T>C		39	0		71	6	NM_004783	0	0	11	11	0	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																			.		0.617	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
INO80E	283899	hgsc.bcm.edu	37	16	30016621	30016621	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:30016621C>T	ENST00000563197.1	+	7	1610	c.593C>T	c.(592-594)aCa>aTa	p.T198I	INO80E_ENST00000304516.7_Missense_Mutation_p.T159I|INO80E_ENST00000567705.1_Missense_Mutation_p.T181I	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	198	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						GGGGTCGGGACAACCCTGACC	0.692																																					p.T198I		.											.	INO80E-91	0			c.C593T						.						5.0	6.0	5.0					16																	30016621		2013	3970	5983	SO:0001583	missense	283899	exon7			TCGGGACAACCCT	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.593C>T	16.37:g.30016621C>T	ENSP00000457016:p.Thr198Ile	0	0		28	14	NM_173618	0	0	13	22	9	Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769290	0.31320	.	.	ENSG00000169592	ENST00000304516	.	.	.	4.84	4.84	0.62591	.	0.436525	0.21015	N	0.081604	T	0.26340	0.0643	N	0.08118	0	0.23076	N	0.998339	B	0.12630	0.006	B	0.15052	0.012	T	0.19321	-1.0309	9	0.45353	T	0.12	0.0066	15.4259	0.75051	0.0:1.0:0.0:0.0	.	198	Q8NBZ0	IN80E_HUMAN	I	198	.	ENSP00000303977:T198I	T	+	2	0	INO80E	29924122	1.000000	0.71417	0.977000	0.42913	0.325000	0.28411	4.612000	0.61169	2.248000	0.74166	0.561000	0.74099	ACA	.		0.692	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618	
PRSS8	5652	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	31144689	31144689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:31144689delG	ENST00000317508.6	-	3	387	c.124delC	c.(124-126)caafs	p.Q42fs	PRSS8_ENST00000568261.1_Frame_Shift_Del_p.Q42fs|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	42					positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ATGCGTGCTTGGGGGGCCACA	0.622																																					p.Q42fs		.											.	.	0			c.124delC						.						38.0	43.0	41.0					16																	31144689		2133	4253	6386	SO:0001589	frameshift_variant	5652	exon3			GTGCTTGGGGGGC	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.124delC	16.37:g.31144689delG	ENSP00000319730:p.Gln42fs	59	0		240	130	NM_002773	0	0	0	0	0	B4DWP2|Q9UCA3	Frame_Shift_Del	DEL	ENST00000317508.6	37	CCDS45469.1																																																																																			.		0.622	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773	
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	48155704	48155704	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:48155704G>A	ENST00000311303.3	-	11	1980	c.1635C>T	c.(1633-1635)taC>taT	p.Y545Y	ABCC12_ENST00000448542.1_Silent_p.Y545Y|ABCC12_ENST00000416054.1_Silent_p.Y545Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	545	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGTGAAACGTAGGCCAAAG	0.443																																					p.Y545Y		.											.	ABCC12-93	0			c.C1635T						.						95.0	78.0	83.0					16																	48155704		2201	4300	6501	SO:0001819	synonymous_variant	94160	exon11			TGAAACGTAGGCC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1635C>T	16.37:g.48155704G>A		132	0		176	93	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																			.		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC11	85320	hgsc.bcm.edu	37	16	48278491	48278491	+	Intron	SNP	T	T	C	rs369746025	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:48278491T>C	ENST00000356608.2	-	1	81				LONP2_ENST00000535754.1_Silent_p.P64P|ABCC11_ENST00000537808.1_Intron|LONP2_ENST00000285737.4_Silent_p.P64P			Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCAACACGCCTGACCCCGCCA	0.751													T|||	29	0.00579073	0.0204	0.0014	5008	,	,		11116	0.0		0.001	False		,,,				2504	0.0				p.P64P		.											.	LONP2-90	0			c.T192C						.	T		20,4122		0,20,2051	9.0	6.0	7.0		192	-0.3	1.0	16		7	0,8078		0,0,4039	no	coding-synonymous	LONP2	NM_031490.2		0,20,6090	CC,CT,TT		0.0,0.4829,0.1637		64/853	48278491	20,12200	2071	4039	6110	SO:0001627	intron_variant	83752	exon1			CACGCCTGACCCC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000356608.2:c.17+2733A>G	16.37:g.48278491T>C		2	0		35	11	NM_031490	0	0	2	2	0	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000356608.2	37	CCDS10732.1																																																																																			.		0.751	ABCC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256843.1	NM_032583	
SNX20	124460	hgsc.bcm.edu	37	16	50707433	50707433	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:50707433C>T	ENST00000330943.4	-	4	1006	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	279					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TTGCCCAGCGCGTAGGCCAGG	0.701																																					p.A279T		.											.	SNX20-23	0			c.G835A						.						32.0	34.0	33.0					16																	50707433		2198	4298	6496	SO:0001583	missense	124460	exon4			CCAGCGCGTAGGC	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.835G>A	16.37:g.50707433C>T	ENSP00000332062:p.Ala279Thr	6	0		94	60	NM_182854	0	0	0	0	0	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551353	0.27739	.	.	ENSG00000167208	ENST00000330943	T	0.64991	-0.13	5.67	-8.56	0.00904	.	1.734210	0.02300	N	0.071071	T	0.32496	0.0831	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.11542	-1.0583	10	0.20046	T	0.44	-0.7851	3.8322	0.08879	0.0842:0.3958:0.1661:0.3538	.	279	Q7Z614	SNX20_HUMAN	T	279	ENSP00000332062:A279T	ENSP00000332062:A279T	A	-	1	0	SNX20	49264934	0.004000	0.15560	0.026000	0.17262	0.847000	0.48162	-0.018000	0.12568	-1.129000	0.02918	-1.149000	0.01842	GCG	.		0.701	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
NOD2	64127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50744753	50744753	+	Missense_Mutation	SNP	C	C	T	rs104895427	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:50744753C>T	ENST00000300589.2	+	4	1036	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	NOD2_ENST00000526417.2_3'UTR|RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	311	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		R -> W (associated with Crohn disease and ulcerative colitis). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCCTGCAGCGGCTGCACTT	0.612													C|||	4	0.000798722	0.0	0.0014	5008	,	,		18994	0.003		0.0	False		,,,				2504	0.0				p.R311W		.											.	NOD2-231	0			c.C931T	GRCh37	CM020650	NOD2	M	rs104895427	.	C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	33.0	33.0	33.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	931	5.6	1.0	16	dbSNP_132	33	9,8591	7.1+/-27.0	0,9,4291	yes	missense	NOD2	NM_022162.1	101	0,10,6488	TT,TC,CC		0.1047,0.0227,0.0769	probably-damaging	311/1041	50744753	10,12986	2198	4300	6498	SO:0001583	missense	64127	exon4			CTGCAGCGGCTGC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.931C>T	16.37:g.50744753C>T	ENSP00000300589:p.Arg311Trp	46	0		104	54	NM_022162	0	0	0	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	17.31	3.356735	0.61293	2.27E-4	0.001047	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79247	-1.25	5.62	5.62	0.85841	NACHT nucleoside triphosphatase (1);	0.728733	0.12865	N	0.432748	D	0.83036	0.5167	L	0.44542	1.39	0.52099	D	0.999943	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.65443	0.896;0.935;0.934	T	0.81673	-0.0826	10	0.87932	D	0	.	12.1445	0.54016	0.1711:0.8289:0.0:0.0	.	95;284;311	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	W	284;311	ENSP00000300589:R311W	ENSP00000300589:R311W	R	+	1	2	NOD2	49302254	1.000000	0.71417	0.988000	0.46212	0.719000	0.41307	2.641000	0.46587	2.651000	0.90000	0.455000	0.32223	CGG	C|0.999;T|0.001		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
RANBP10	57610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67765468	67765468	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:67765468C>T	ENST00000317506.3	-	7	911	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	RANBP10_ENST00000536251.1_Missense_Mutation_p.V37M|RANBP10_ENST00000425512.2_Missense_Mutation_p.V134M|RANBP10_ENST00000448631.2_Missense_Mutation_p.V210M|RANBP10_ENST00000602677.1_Missense_Mutation_p.V266M|RANBP10_ENST00000411657.2_Missense_Mutation_p.V149M	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	266	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCATGATGCACGAGGTAAGAT	0.473																																					p.V266M		.											.	RANBP10-227	0			c.G796A						.						113.0	97.0	102.0					16																	67765468		2198	4300	6498	SO:0001583	missense	57610	exon7			GATGCACGAGGTA	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.796G>A	16.37:g.67765468C>T	ENSP00000316589:p.Val266Met	136	0		275	29	NM_020850	0	0	2	2	0	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196171	0.94960	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657;ENST00000425512	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.78	5.78	0.91487	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.70595	2.14	0.80722	D	1	P;P;D;D;D	0.89917	0.955;0.882;1.0;1.0;0.994	P;P;D;D;P	0.91635	0.557;0.523;0.999;0.993;0.876	D	0.89143	0.3518	10	0.54805	T	0.06	-21.3303	19.6088	0.95594	0.0:1.0:0.0:0.0	.	134;266;149;210;266	B4DHL9;B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;.;RBP10_HUMAN	M	266;210;37;149;134	ENSP00000316589:V266M;ENSP00000392808:V210M;ENSP00000442249:V37M;ENSP00000416460:V149M;ENSP00000410617:V134M	ENSP00000316589:V266M	V	-	1	0	RANBP10	66322969	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.737000	0.84957	2.734000	0.93682	0.563000	0.77884	GTG	.		0.473	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850	
PDPR	55066	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	70190402	70190402	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:70190402G>A	ENST00000288050.4	+	19	3217	c.2260G>A	c.(2260-2262)Gcc>Acc	p.A754T	PDPR_ENST00000567046.1_Missense_Mutation_p.A112T|PDPR_ENST00000568530.1_Missense_Mutation_p.A754T|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000542659.1_Missense_Mutation_p.A99T|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Missense_Mutation_p.A654T|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	754					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGGTCGCGACGCCCTCCTGCA	0.552																																					p.A754T		.											.	PDPR-135	0			c.G2260A						.						129.0	143.0	139.0					16																	70190402		2088	4227	6315	SO:0001583	missense	55066	exon19			CGCGACGCCCTCC		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2260G>A	16.37:g.70190402G>A	ENSP00000288050:p.Ala754Thr	128	0		230	30	NM_017990	0	0	0	0	0	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669915	0.67814	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	D;D;D	0.81659	-1.52;-1.52;-1.52	6.03	5.09	0.68999	Glycine cleavage T-protein, C-terminal barrel (1);	0.162984	0.53938	D	0.000053	D	0.93099	0.7803	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.945;0.989	D	0.95113	0.8240	10	0.59425	D	0.04	.	16.0426	0.80695	0.0:0.0:0.8648:0.1352	.	421;754	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	T	754;654;421;99	ENSP00000288050:A754T;ENSP00000381190:A654T;ENSP00000441690:A99T	ENSP00000205055:A421T	A	+	1	0	PDPR	68747903	1.000000	0.71417	0.885000	0.34714	0.045000	0.14185	7.957000	0.87870	1.576000	0.49790	-0.233000	0.12211	GCC	.		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
VAC14	55697	broad.mit.edu;bcgsc.ca	37	16	70732653	70732653	+	Missense_Mutation	SNP	G	G	A	rs145938865	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:70732653G>A	ENST00000261776.5	-	15	1983	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	VAC14_ENST00000536184.2_Missense_Mutation_p.R7W	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	575					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCCTCCTCCCGCAGCAGGATG	0.607																																					p.R575W		.											.	VAC14-227	0			c.C1723T						.	G	TRP/ARG	4,4392	8.1+/-20.4	0,4,2194	190.0	126.0	148.0		1723	3.2	0.9	16	dbSNP_134	148	11,8589	8.4+/-32.0	0,11,4289	yes	missense	VAC14	NM_018052.3	101	0,15,6483	AA,AG,GG		0.1279,0.091,0.1154	probably-damaging	575/783	70732653	15,12981	2198	4300	6498	SO:0001583	missense	55697	exon15			CCTCCCGCAGCAG	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1723C>T	16.37:g.70732653G>A	ENSP00000261776:p.Arg575Trp	153	1		287	10	NM_018052	0	0	19	19	0	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620991	0.66787	9.1E-4	0.001279	ENSG00000103043	ENST00000261776;ENST00000536184	T	0.68025	-0.3	5.25	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.213831	0.46758	D	0.000262	T	0.65913	0.2737	L	0.29908	0.895	0.48135	D	0.999594	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.903	T	0.65170	-0.6233	10	0.72032	D	0.01	-4.2082	4.8638	0.13598	0.0723:0.1296:0.5327:0.2654	.	505;575	B4DMP4;Q08AM6	.;VAC14_HUMAN	W	575;7	ENSP00000261776:R575W	ENSP00000261776:R575W	R	-	1	2	VAC14	69290154	0.988000	0.35896	0.871000	0.34182	0.837000	0.47467	3.285000	0.51716	0.569000	0.29329	-0.218000	0.12543	CGG	G|0.999;A|0.001		0.607	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052	
DHODH	1723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	72057466	72057466	+	Missense_Mutation	SNP	C	C	T	rs563071819		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:72057466C>T	ENST00000219240.4	+	8	1088	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	DHODH_ENST00000572887.1_Missense_Mutation_p.T354M	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	356					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CAGCTGTACACGGCCCTCACC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17119	0.0		0.0	False		,,,				2504	0.001				p.T356M		.											.	DHODH-227	0			c.C1067T						.						63.0	71.0	69.0					16																	72057466		1994	4168	6162	SO:0001583	missense	1723	exon8			TGTACACGGCCCT		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1067C>T	16.37:g.72057466C>T	ENSP00000219240:p.Thr356Met	37	0		62	24	NM_001361	0	0	6	12	6	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235795	0.95240	.	.	ENSG00000102967	ENST00000219240	D	0.96232	-3.95	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	-12.6102	20.024	0.97514	0.0:1.0:0.0:0.0	.	356	Q02127	PYRD_HUMAN	M	356	ENSP00000219240:T356M	ENSP00000219240:T356M	T	+	2	0	DHODH	70614967	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	7.459000	0.80802	2.813000	0.96785	0.561000	0.74099	ACG	.		0.607	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361	
CTRB2	440387	broad.mit.edu;bcgsc.ca	37	16	75238144	75238144	+	Missense_Mutation	SNP	C	C	T	rs201069805	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:75238144C>T	ENST00000303037.8	-	7	750	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	236	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)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						AGAGCAGGTGCGGCTGCCCCA	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		16489	0.0		0.003	False		,,,				2504	0.0				p.R236H		.											.	CTRB2-68	0			c.G707A						.						85.0	75.0	78.0					16																	75238144		2198	4300	6498	SO:0001583	missense	440387	exon7			CAGGTGCGGCTGC	M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.707G>A	16.37:g.75238144C>T	ENSP00000303963:p.Arg236His	46	1		248	127	NM_001025200	0	0	0	0	0	A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922714	0.73213	.	.	ENSG00000168928	ENST00000303037	D	0.92965	-3.14	4.33	-1.42	0.08913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.684650	0.13343	U	0.395014	D	0.84946	0.5585	N	0.25485	0.75	0.09310	N	1	P	0.36837	0.571	B	0.40565	0.333	T	0.76429	-0.2962	10	0.72032	D	0.01	.	5.4525	0.16572	0.0:0.3867:0.2404:0.3729	.	236	Q6GPI1	CTRB2_HUMAN	H	236	ENSP00000303963:R236H	ENSP00000303963:R236H	R	-	2	0	CTRB2	73795645	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-0.273000	0.08548	-0.458000	0.07023	-0.462000	0.05337	CGC	.		0.652	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200	
TMEM231	79583	broad.mit.edu;bcgsc.ca	37	16	75575345	75575345	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:75575345C>T	ENST00000258173.6	-	6	749	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	TMEM231_ENST00000565067.1_Missense_Mutation_p.V177I|TMEM231_ENST00000568377.1_Missense_Mutation_p.V254I|TMEM231_ENST00000569294.1_5'UTR|RP11-77K12.7_ENST00000460606.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	225					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCATTCAGGACGGTGGTAACT	0.448																																					p.V278I		.											.	.	0			c.G832A						.						57.0	62.0	60.0					16																	75575345		1959	4168	6127	SO:0001583	missense	79583	exon5			TCAGGACGGTGGT		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.673G>A	16.37:g.75575345C>T	ENSP00000258173:p.Val225Ile	108	1		136	52	NM_001077416	0	0	1	1	0	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	c	6.846	0.525294	0.13066	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.63744	-0.06;-0.06	4.42	-8.06	0.01102	.	0.984214	0.08309	N	0.965621	T	0.45935	0.1367	L	0.35288	1.05	0.31127	N	0.708135	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.11329	0.006;0.003;0.003	T	0.20240	-1.0281	10	0.27785	T	0.31	-7.6117	13.8349	0.63404	0.1022:0.7886:0.0:0.1092	.	254;225;254	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	I	225;254	ENSP00000258173:V225I;ENSP00000381184:V254I	ENSP00000258173:V225I	V	-	1	0	TMEM231	74132846	0.001000	0.12720	0.096000	0.21009	0.455000	0.32408	-0.119000	0.10676	-1.720000	0.01380	-0.592000	0.04112	GTC	.		0.448	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416	
MBTPS1	8720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	84129260	84129260	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:84129260C>T	ENST00000343411.3	-	4	1067	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	191					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)			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						GGCAACCTGGCGCGGGATGGC	0.587																																					p.R191H		.											.	MBTPS1-92	0			c.G572A						.						90.0	78.0	82.0					16																	84129260		2200	4300	6500	SO:0001583	missense	8720	exon4			ACCTGGCGCGGGA	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.572G>A	16.37:g.84129260C>T	ENSP00000344223:p.Arg191His	77	0		131	22	NM_003791	0	0	1	1	0	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	36	5.820751	0.96989	.	.	ENSG00000140943	ENST00000343411	T	0.33438	1.41	5.97	5.97	0.96955	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.048958	0.85682	D	0.000000	T	0.50871	0.1641	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	P	0.56216	0.794	T	0.37407	-0.9707	10	0.44086	T	0.13	-25.2942	20.4388	0.99107	0.0:1.0:0.0:0.0	.	191	Q14703	MBTP1_HUMAN	H	191	ENSP00000344223:R191H	ENSP00000344223:R191H	R	-	2	0	MBTPS1	82686761	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.782000	0.85680	2.836000	0.97738	0.655000	0.94253	CGC	.		0.587	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
ZNF469	84627	broad.mit.edu;bcgsc.ca	37	16	88496389	88496389	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:88496389C>T	ENST00000437464.1	+	1	2511	c.2511C>T	c.(2509-2511)gaC>gaT	p.D837D	ZNF469_ENST00000565624.1_Silent_p.D837D	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TGGAGGATGACGCCAAGCTGG	0.652																																					p.D837D		.											.	.	0			c.C2511T						.						14.0	19.0	18.0					16																	88496389		691	1585	2276	SO:0001819	synonymous_variant	84627	exon1			GGATGACGCCAAG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.2511C>T	16.37:g.88496389C>T		145	0		545	25	NM_001127464	0	0	0	0	0		Silent	SNP	ENST00000437464.1	37	CCDS45544.1																																																																																			.		0.652	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
IL17C	27189	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	88706308	88706308	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:88706308G>A	ENST00000244241.4	+	3	471	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	141					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGACGGGCCGCGAGACAGCT	0.701																																					p.R141H		.											.	IL17C-90	0			c.G422A						.						23.0	29.0	27.0					16																	88706308		2083	4193	6276	SO:0001583	missense	27189	exon3			CGGGCCGCGAGAC	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.422G>A	16.37:g.88706308G>A	ENSP00000244241:p.Arg141His	9	0		47	25	NM_013278	0	0	0	1	1	Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443266	0.43429	.	.	ENSG00000124391	ENST00000244241	T	0.56275	0.47	4.45	1.34	0.21922	.	0.233048	0.29266	N	0.012655	T	0.54415	0.1857	L	0.43152	1.355	0.09310	N	0.999999	D	0.69078	0.997	P	0.60345	0.873	T	0.39121	-0.9629	10	0.51188	T	0.08	-23.8373	7.4646	0.27314	0.3574:0.0:0.6426:0.0	.	141	Q9P0M4	IL17C_HUMAN	H	141	ENSP00000244241:R141H	ENSP00000244241:R141H	R	+	2	0	IL17C	87233809	0.010000	0.17322	0.235000	0.24058	0.102000	0.19082	0.909000	0.28558	0.861000	0.35504	0.561000	0.74099	CGC	.		0.701	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278	
ACSF3	197322	ucsc.edu	37	16	89167094	89167094	+	Missense_Mutation	SNP	T	T	C	rs7188200	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89167094T>C	ENST00000317447.4	+	3	382	c.5T>C	c.(4-6)cTg>cCg	p.L2P	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.L2P	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	2			L -> P (in dbSNP:rs7188200). {ECO:0000269|PubMed:15489334}.		fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGTGCAATGCTGCCCCATGTG	0.622													C|||	3127	0.624401	0.6029	0.7853	5008	,	,		14671	0.4841		0.7803	False		,,,				2504	0.5235				p.L2P		.											.	ACSF3-68	0			c.T5C						.						13.0	13.0	13.0					16																	89167094		2132	4171	6303	SO:0001583	missense	197322	exon3			CAATGCTGCCCCA	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.5T>C	16.37:g.89167094T>C	ENSP00000320646:p.Leu2Pro	10	0		46	14	NM_174917	0	0	1	1	0	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	1411	0.6460622710622711	285	0.5792682926829268	282	0.7790055248618785	269	0.47027972027972026	575	0.758575197889182	C	8.627	0.892749	0.17613	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.57595	0.82;0.39;0.82	4.81	-8.23	0.01033	.	3.072820	0.01137	N	0.006101	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.30268	-0.9984	9	0.30078	T	0.28	4.6826	6.063	0.19848	0.0912:0.4503:0.0926:0.3659	rs7188200;rs52794281;rs59665105;rs7188200	2	Q4G176	ACSF3_HUMAN	P	2	ENSP00000320646:L2P;ENSP00000440734:L2P;ENSP00000384627:L2P	ENSP00000320646:L2P	L	+	2	0	ACSF3	87694595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.587000	0.02108	-2.224000	0.00725	-2.069000	0.00389	CTG	T|0.381;C|0.619		0.622	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917	
ANKRD11	29123	broad.mit.edu	37	16	89345709	89345709	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89345709G>A	ENST00000301030.4	-	9	7701	c.7241C>T	c.(7240-7242)aCg>aTg	p.T2414M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T2414M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2414					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCAGCGTCTGCTGGAT	0.632																																					p.T2414M		.											.	ANKRD11-139	0			c.C7241T						.						24.0	22.0	23.0					16																	89345709		2198	4300	6498	SO:0001583	missense	29123	exon9			GCCAGCGTCTGCT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7241C>T	16.37:g.89345709G>A	ENSP00000301030:p.Thr2414Met	58	2		301	153	NM_001256183	0	0	16	34	18	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.232377	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47177	0.85;0.85	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.69531	0.3121	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.74362	-0.3690	10	0.87932	D	0	.	18.2136	0.89878	0.0:0.0:1.0:0.0	.	2414	Q6UB99	ANR11_HUMAN	M	2414	ENSP00000301030:T2414M;ENSP00000367581:T2414M	ENSP00000301030:T2414M	T	-	2	0	ANKRD11	87873210	1.000000	0.71417	0.995000	0.50966	0.572000	0.35998	9.704000	0.98716	2.302000	0.77476	0.187000	0.17357	ACG	.		0.632	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	89352532	89352532	+	Silent	SNP	C	C	T	rs149525788		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89352532C>T	ENST00000301030.4	-	8	1267	c.807G>A	c.(805-807)acG>acA	p.T269T	ANKRD11_ENST00000378330.2_Silent_p.T269T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	269					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTCAGCGGCGTCTCGCCTT	0.602																																					p.T269T		.											.	ANKRD11-139	0			c.G807A						.						161.0	152.0	155.0					16																	89352532		2198	4300	6498	SO:0001819	synonymous_variant	29123	exon8			CAGCGGCGTCTCG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.807G>A	16.37:g.89352532C>T		104	0		158	41	NM_001256183	0	0	8	16	8	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																			C|1.000;G|0.000		0.602	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
MC1R	4157	hgsc.bcm.edu	37	16	89986317	89986317	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89986317C>T	ENST00000555147.1	+	1	2031	c.651C>T	c.(649-651)caC>caT	p.H217H	MC1R_ENST00000555427.1_Silent_p.H217H|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000556922.1_Silent_p.H217H	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	217					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTGCCAGCACGCCCAGGGCA	0.652									Melanoma, Familial Clustering of																												p.H217H		.											.	.	0			c.C651T						.																																			SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		CCAGCACGCCCAG		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.651C>T	16.37:g.89986317C>T		4	0		67	36	NM_002386	0	0	48	90	42	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			.		0.652	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386	
RPH3AL	9501	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	169309	169309	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:169309G>A	ENST00000331302.7	-	5	560	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R85W|RPH3AL_ENST00000576001.1_5'Flank|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000323434.8_Missense_Mutation_p.R85W	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	85	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.			R -> Q (in Ref. 4; AAH05153). {ECO:0000305}.	exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)	p.R85W(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ATCACATTCCGCCTCATGGTC	0.632																																					p.R85W		.											.	RPH3AL-91	1	Substitution - Missense(1)	NS(1)	c.C253T						.						105.0	84.0	91.0					17																	169309		2199	4296	6495	SO:0001583	missense	9501	exon4			CATTCCGCCTCAT		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.253C>T	17.37:g.169309G>A	ENSP00000328977:p.Arg85Trp	86	1		79	65	NM_001190413	0	0	0	0	0	D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291111	0.80914	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	T;T;T	0.79352	-1.26;-1.26;-1.26	5.74	0.995	0.19838	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.430095	0.21665	N	0.070949	T	0.75910	0.3914	L	0.29908	0.895	0.34059	D	0.65705	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.62382	0.809;0.854;0.901	T	0.77319	-0.2632	10	0.36615	T	0.2	-13.2383	9.6735	0.40026	0.0:0.1029:0.2659:0.6312	.	85;85;85	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	W	85	ENSP00000319210:R85W;ENSP00000328977:R85W;ENSP00000438224:R85W	ENSP00000319210:R85W	R	-	1	2	RPH3AL	169309	1.000000	0.71417	0.533000	0.28001	0.912000	0.54170	3.692000	0.54727	0.307000	0.22880	-0.175000	0.13238	CGG	.		0.632	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987	
MYO1C	4641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	1371412	1371412	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:1371412C>T	ENST00000575158.1	-	28	2837	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	MYO1C_ENST00000545534.2_Silent_p.A898A|MYO1C_ENST00000438665.2_Silent_p.A903A|MYO1C_ENST00000359786.5_Silent_p.A922A|MYO1C_ENST00000361007.2_Silent_p.A887A			Q12965	MYO1E_HUMAN	myosin IC	767	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAACAGGCACCGCATACTGGG	0.647																																					p.A922A		.											.	MYO1C-90	0			c.G2766A						.						37.0	37.0	37.0					17																	1371412		2203	4300	6503	SO:0001819	synonymous_variant	4641	exon28			AGGCACCGCATAC	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2661G>A	17.37:g.1371412C>T		60	0		88	43	NM_001080779	0	0	0	0	0	Q14778	Silent	SNP	ENST00000575158.1	37	CCDS11003.1																																																																																			.		0.647	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2		
GSG2	83903	hgsc.bcm.edu	37	17	3627663	3627663	+	Missense_Mutation	SNP	G	G	A	rs55991903	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:3627663G>A	ENST00000325418.4	+	1	453	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	145			R -> H (in dbSNP:rs55991903). {ECO:0000269|PubMed:17344846}.		histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GACTCCGGCCGCCTCAGCCCG	0.741													G|||	21	0.00419329	0.0015	0.0086	5008	,	,		14335	0.0		0.0109	False		,,,				2504	0.002				p.R145H		.											.	GSG2-297	0			c.G434A						.	G	,HIS/ARG	19,4333		0,19,2157	8.0	10.0	10.0		,434	-5.6	0.0	17	dbSNP_129	10	133,8365		2,129,4118	no	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,29	2,148,6275	AA,AG,GG		1.5651,0.4366,1.1829	,possibly-damaging	,145/799	3627663	152,12698	2176	4249	6425	SO:0001583	missense	83903	exon1			CCGGCCGCCTCAG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.434G>A	17.37:g.3627663G>A	ENSP00000325290:p.Arg145His	0	0		18	18	NM_031965	0	0	0	1	1	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	16	0.007326007326007326	1	0.0020325203252032522	4	0.011049723756906077	2	0.0034965034965034965	9	0.011873350923482849	G	13.14	2.146801	0.37923	0.004366	0.015651	ENSG00000177602	ENST00000325418	T	0.06218	3.33	4.39	-5.62	0.02481	.	2.075320	0.02499	N	0.090312	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.42616	-0.9441	10	0.87932	D	0	-17.6922	2.1224	0.03729	0.1356:0.2934:0.2735:0.2975	rs55991903	145	Q8TF76	HASP_HUMAN	H	145	ENSP00000325290:R145H	ENSP00000325290:R145H	R	+	2	0	GSG2	3574412	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-0.627000	0.05521	-0.721000	0.04929	0.467000	0.42956	CGC	G|0.993;A|0.007		0.741	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
VMO1	284013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4688850	4688850	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:4688850G>A	ENST00000328739.5	-	3	495	c.416C>T	c.(415-417)gCg>gTg	p.A139V	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	139						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CACGTTGTTCGCTGCTGTGTT	0.647																																					p.A139V		.											.	VMO1-69	0			c.C416T						.						81.0	70.0	74.0					17																	4688850		2203	4300	6503	SO:0001583	missense	284013	exon3			TTGTTCGCTGCTG	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.416C>T	17.37:g.4688850G>A	ENSP00000328397:p.Ala139Val	43	0		106	47	NM_182566	0	0	2	2	0	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969838	0.34754	.	.	ENSG00000182853	ENST00000328739	T	0.46063	0.88	5.0	1.52	0.23074	.	0.306644	0.34906	N	0.003600	T	0.30293	0.0760	L	0.28694	0.88	0.51012	D	0.999905	D	0.59767	0.986	P	0.46543	0.52	T	0.02797	-1.1109	10	0.30854	T	0.27	-21.1478	7.5836	0.27980	0.4021:0.0:0.5979:0.0	.	139	Q7Z5L0	VMO1_HUMAN	V	139	ENSP00000328397:A139V	ENSP00000328397:A139V	A	-	2	0	VMO1	4635590	0.382000	0.25148	0.178000	0.23040	0.792000	0.44763	1.114000	0.31196	0.458000	0.26988	0.561000	0.74099	GCG	.		0.647	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566	
ASGR1	432	hgsc.bcm.edu	37	17	7077106	7077106	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7077106C>T	ENST00000269299.3	-	9	1147	c.748G>A	c.(748-750)Gga>Aga	p.G250R	ASGR1_ENST00000380920.4_Missense_Mutation_p.G149R|ASGR1_ENST00000574388.1_Missense_Mutation_p.G211R	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	250	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCGCCTCCTCCGAGCCCGTGG	0.697																																					p.G250R		.											.	ASGR1-153	0			c.G748A						.						49.0	53.0	52.0					17																	7077106		2202	4299	6501	SO:0001583	missense	432	exon9			CTCCTCCGAGCCC		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.748G>A	17.37:g.7077106C>T	ENSP00000269299:p.Gly250Arg	3	0		41	37	NM_001671	0	0	0	1	1	I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878191	0.51801	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.19394	2.15	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.52532	D	0.000067	T	0.49440	0.1557	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53380	-0.8447	10	0.87932	D	0	.	15.9161	0.79521	0.0:1.0:0.0:0.0	.	250	P07306	ASGR1_HUMAN	R	250;211	ENSP00000269299:G250R	ENSP00000269299:G250R	G	-	1	0	ASGR1	7017830	0.610000	0.26983	0.369000	0.25952	0.004000	0.04260	2.906000	0.48735	2.698000	0.92095	0.609000	0.83330	GGA	.		0.697	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671	
SPEM1	374768	broad.mit.edu;bcgsc.ca	37	17	7324353	7324353	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7324353G>A	ENST00000323675.3	+	3	384	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	120					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCTCCCACACGCTGTGCTCAC	0.607																																					p.R120H		.											.	SPEM1-90	0			c.G359A						.						66.0	72.0	70.0					17																	7324353		2152	4241	6393	SO:0001583	missense	374768	exon3			CCACACGCTGTGC	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.359G>A	17.37:g.7324353G>A	ENSP00000315554:p.Arg120His	136	0		151	7	NM_199339	0	0	0	0	0		Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028472	0.08054	.	.	ENSG00000181323	ENST00000323383;ENST00000323675	.	.	.	4.7	-5.6	0.02497	.	1.462480	0.04393	N	0.362773	T	0.26122	0.0637	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	9	0.49607	T	0.09	-0.979	8.2529	0.31737	0.5275:0.1072:0.3654:0.0	.	120	Q8N4L4	SPEM1_HUMAN	H	69;120	.	ENSP00000315511:R69H	R	+	2	0	SPEM1	7265077	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.151000	0.10175	-1.121000	0.02949	-1.814000	0.00607	CGC	.		0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R273C	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	c.C817T	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	.						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AAACACGCACCTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	119	0		79	74	NM_000546	0	0	0	2	2	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	.		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ALOX12B	242	hgsc.bcm.edu;bcgsc.ca	37	17	7982767	7982767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7982767delG	ENST00000319144.4	-	8	1278	c.1018delC	c.(1018-1020)ctcfs	p.L340fs	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	340	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCAGGCAGAGGGGGGCGCAG	0.667										Multiple Myeloma(8;0.094)																											p.L340fs		.											.	ALOX12B-226	0			c.1018delC						.						21.0	19.0	19.0					17																	7982767		2125	4158	6283	SO:0001589	frameshift_variant	242	exon8			GGCAGAGGGGGGC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1018delC	17.37:g.7982767delG	ENSP00000315167:p.Leu340fs	47	1		227	196	NM_001139	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319144.4	37	CCDS11129.1																																																																																			.		0.667	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
MYH10	4628	ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8424545	8424545	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:8424545G>A	ENST00000269243.4	-	16	2061	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	MYH10_ENST00000360416.3_Silent_p.S672S|MYH10_ENST00000396239.1_Silent_p.S662S|MYH10_ENST00000379980.4_Silent_p.S657S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	641	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S641S(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTATATGCGGAGCCAAAAG	0.468																																					p.S672S		.											.	MYH10-92	1	Substitution - coding silent(1)	large_intestine(1)	c.C2016T						.						172.0	164.0	167.0					17																	8424545		2203	4300	6503	SO:0001819	synonymous_variant	4628	exon18			ATATGCGGAGCCA	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1923C>T	17.37:g.8424545G>A		201	2		155	75	NM_001256012	0	0	0	0	0	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																			.		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
ADPRM	56985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10614312	10614312	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:10614312G>A	ENST00000379774.4	+	4	971	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ADPRM_ENST00000609540.1_Silent_p.T292T	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	294							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										TGTATACCACGTCAACCTAGA	0.478																																					p.V294I		.											.	.	0			c.G880A						.						191.0	163.0	172.0					17																	10614312		2203	4300	6503	SO:0001583	missense	56985	exon4			TACCACGTCAACC	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.880G>A	17.37:g.10614312G>A	ENSP00000369099:p.Val294Ile	171	0		132	18	NM_020233	0	0	3	3	0	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	2.963	-0.214131	0.06101	.	.	ENSG00000170222	ENST00000379774	D	0.94092	-3.35	5.82	-2.21	0.06973	.	0.701451	0.14467	N	0.317804	T	0.81302	0.4794	N	0.25245	0.725	0.80722	D	1	B	0.17268	0.021	B	0.08055	0.003	T	0.65837	-0.6071	10	0.07813	T	0.8	-4.2856	2.832	0.05503	0.3903:0.1691:0.3486:0.092	.	294	Q3LIE5	ADPRM_HUMAN	I	294	ENSP00000369099:V294I	ENSP00000369099:V294I	V	+	1	0	C17orf48	10555037	0.006000	0.16342	0.059000	0.19551	0.173000	0.22820	0.103000	0.15292	-0.170000	0.10816	-0.191000	0.12829	GTC	.		0.478	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233	
DNAH9	1770	bcgsc.ca	37	17	11532835	11532835	+	Silent	SNP	A	A	G	rs9895535	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11532835A>G	ENST00000262442.4	+	7	1520	c.1452A>G	c.(1450-1452)gaA>gaG	p.E484E	DNAH9_ENST00000454412.2_Silent_p.E484E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	484	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATGCATGAAGAATTTCAAG	0.542													G|||	1967	0.392772	0.7761	0.2334	5008	,	,		15250	0.131		0.3161	False		,,,				2504	0.3364				p.E484E		.											.	DNAH9-168	0			c.A1452G						.	G		3135,1271	433.5+/-343.6	1137,861,205	117.0	110.0	112.0		1452	-6.0	0.0	17	dbSNP_119	112	2607,5993	688.5+/-404.3	405,1797,2098	no	coding-synonymous	DNAH9	NM_001372.3		1542,2658,2303	GG,GA,AA		30.314,28.847,44.1489		484/4487	11532835	5742,7264	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon7			GCATGAAGAATTT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1452A>G	17.37:g.11532835A>G		76	0		98	6	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			A|0.589;G|0.411		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	11778483	11778483	+	Missense_Mutation	SNP	C	C	T	rs145738103	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11778483C>T	ENST00000262442.4	+	53	10528	c.10460C>T	c.(10459-10461)aCg>aTg	p.T3487M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3487M|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3487	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCGGGTCACGCAGATTGGT	0.453													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0				p.T3487M		.											.	DNAH9-168	0			c.C10460T						.	C	MET/THR	11,4395	17.9+/-39.9	0,11,2192	74.0	64.0	68.0		10460	1.4	0.7	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DNAH9	NM_001372.3	81	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging	3487/4487	11778483	11,12995	2203	4300	6503	SO:0001583	missense	1770	exon53			GGGTCACGCAGAT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10460C>T	17.37:g.11778483C>T	ENSP00000262442:p.Thr3487Met	95	0		77	5	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.40	1.925323	0.34002	0.002497	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.23348	1.91;1.91	4.66	1.39	0.22231	.	0.123452	0.53938	D	0.000054	T	0.32102	0.0818	M	0.72479	2.2	0.80722	D	1	P	0.47191	0.891	P	0.48901	0.594	T	0.09079	-1.0691	10	0.66056	D	0.02	.	7.0357	0.24993	0.0:0.5474:0.0:0.4526	.	3487	Q9NYC9	DYH9_HUMAN	M	3487;3487;2069	ENSP00000262442:T3487M;ENSP00000414874:T3487M	ENSP00000262442:T3487M	T	+	2	0	DNAH9	11719208	0.984000	0.35163	0.747000	0.31113	0.054000	0.15201	2.144000	0.42197	0.594000	0.29761	-0.140000	0.14226	ACG	C|0.999;T|0.001		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11845741	11845741	+	Missense_Mutation	SNP	G	G	A	rs149812805	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11845741G>A	ENST00000262442.4	+	67	12850	c.12782G>A	c.(12781-12783)cGg>cAg	p.R4261Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R4185Q|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.R573Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4261					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGTGTGGCCGGATGAATATC	0.537																																					p.R4261Q		.											.	DNAH9-168	0			c.G12782A						.	G	GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	103.0	91.0	95.0		12782,1718	3.9	0.9	17	dbSNP_134	95	0,8600		0,0,4300	yes	missense,missense	DNAH9	NM_001372.3,NM_004662.2	43,43	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging	4261/4487,573/799	11845741	7,12999	2203	4300	6503	SO:0001583	missense	1770	exon67			GTGGCCGGATGAA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12782G>A	17.37:g.11845741G>A	ENSP00000262442:p.Arg4261Gln	158	1		114	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659412	0.47467	0.001589	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10382	2.88;2.88;2.88	4.86	3.9	0.45041	Dynein heavy chain (1);	0.057064	0.64402	D	0.000001	T	0.48677	0.1513	H	0.98612	4.28	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.69176	-0.5214	10	0.72032	D	0.01	.	13.4622	0.61233	0.0756:0.0:0.9243:0.0	.	4261	Q9NYC9	DYH9_HUMAN	Q	4261;4185;2767;573	ENSP00000262442:R4261Q;ENSP00000414874:R4185Q;ENSP00000379323:R573Q	ENSP00000262442:R4261Q	R	+	2	0	DNAH9	11786466	1.000000	0.71417	0.929000	0.37066	0.179000	0.23085	6.450000	0.73477	1.271000	0.44313	-0.448000	0.05591	CGG	G|1.000;A|0.000		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
SPECC1	92521	broad.mit.edu;bcgsc.ca	37	17	20224697	20224697	+	IGR	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:20224697C>T	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTCTACGCCACGAGGAAAACC	0.632																																					.		.											.	.	0			.						.																																			SO:0001628	intergenic_variant	348254	.			ACGCCACGAGGAA	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224697C>T		118	1		128	11	.	0	0	0	0	0	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37	CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	1.849	-0.465518	0.04476	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.565	-0.681	0.11342	.	.	.	.	.	T	0.11836	0.0288	.	.	.	0.23391	N	0.997773	.	.	.	.	.	.	T	0.39961	-0.9588	3	0.02654	T	1	.	.	.	.	.	.	.	.	M	23	.	ENSP00000343605:T23M	T	+	2	0	CCDC144C	20165289	0.014000	0.17966	0.008000	0.14137	0.008000	0.06430	-0.717000	0.04986	-0.387000	0.07809	-0.414000	0.06135	ACG	.		0.632	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904	
LGALS9B	284194	broad.mit.edu	37	17	20363687	20363687	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:20363687C>T	ENST00000423676.3	-	2	172	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9B_ENST00000324290.5_Missense_Mutation_p.V37I			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GAGCTGAGAACGGCCCCATTG	0.557																																					p.V37I		.											.	LGALS9B-23	0			c.G109A						.						197.0	163.0	175.0					17																	20363687		2202	4298	6500	SO:0001583	missense	284194	exon2			TGAGAACGGCCCC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.109G>A	17.37:g.20363687C>T	ENSP00000388841:p.Val37Ile	677	0		795	15	NM_001042685	0	0	0	0	0	A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37		.	.	.	.	.	.	.	.	.	.	C	8.507	0.865540	0.17250	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.14516	2.5;2.5	2.33	-3.33	0.04958	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.332246	0.26891	N	0.021980	T	0.10165	0.0249	L	0.37507	1.11	0.09310	N	1	B;B	0.21071	0.051;0.009	B;B	0.33620	0.167;0.054	T	0.25882	-1.0119	10	0.42905	T	0.14	.	6.3721	0.21487	0.0:0.5048:0.0:0.4952	.	37;37	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	I	37	ENSP00000388841:V37I;ENSP00000315564:V37I	ENSP00000315564:V37I	V	-	1	0	LGALS9B	20304279	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.219000	0.02973	-0.888000	0.03956	0.194000	0.17425	GTT	.		0.557	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685	
KCNJ12	3768	ucsc.edu	37	17	21319943	21319943	+	Missense_Mutation	SNP	A	A	G	rs5021699	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:21319943A>G	ENST00000583088.1	+	3	2184	c.1289A>G	c.(1288-1290)gAg>gGg	p.E430G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E430G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	430			E -> G (in dbSNP:rs5021699).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACAGACGGGAGTCAGAGATC	0.701										Prostate(3;0.18)																											p.E430G		.											.	.	0			c.A1289G						.																																			SO:0001583	missense	100134444	exon3			GACGGGAGTCAGA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1289A>G	17.37:g.21319943A>G	ENSP00000463778:p.Glu430Gly	16	0		58	19	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515652	0.64634	.	.	ENSG00000184185	ENST00000331718	D	0.90197	-2.63	5.41	5.41	0.78517	.	0.381500	0.26680	N	0.023059	D	0.94699	0.8290	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94947	0.8096	10	0.59425	D	0.04	.	15.4536	0.75297	1.0:0.0:0.0:0.0	rs5021699	430	Q14500	IRK12_HUMAN	G	430	ENSP00000328150:E430G	ENSP00000328150:E430G	E	+	2	0	KCNJ12	21260536	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.091000	0.94151	2.066000	0.61787	0.528000	0.53228	GAG	A|0.600;G|0.400		0.701	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
ERAL1	26284	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	27188561	27188561	+	IGR	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:27188561G>A	ENST00000254928.5	+	0	1925				MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1						ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGGGGTGCCCGGACTAGTACA	0.552																																					.		.											.	.	0			.						.						59.0	58.0	58.0					17																	27188561		1568	3582	5150	SO:0001628	intergenic_variant	406936	.			GTGCCCGGACTAG	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675		17.37:g.27188561G>A		106	0		104	36	.	0	0	0	0	0	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	RNA	SNP	ENST00000254928.5	37	CCDS11244.1																																																																																			.		0.552	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2		
LHX1	3975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667																																					p.R181Q		.											.	LHX1-92	0			c.G542A						.						42.0	47.0	45.0					17																	35298051		2203	4300	6503	SO:0001583	missense	3975	exon3			AGCGGCGGGGACC	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.542G>A	17.37:g.35298051G>A	ENSP00000254457:p.Arg181Gln	79	0		194	172	NM_005568	0	0	0	0	0	Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662446	0.96734	.	.	ENSG00000132130	ENST00000254457	D	0.97209	-4.29	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98295	0.9435	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98951	1.0794	10	0.72032	D	0.01	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	167;181	B4DPA6;P48742	.;LHX1_HUMAN	Q	181	ENSP00000254457:R181Q	ENSP00000254457:R181Q	R	+	2	0	LHX1	32372164	1.000000	0.71417	0.792000	0.32020	0.986000	0.74619	9.573000	0.98181	2.648000	0.89879	0.561000	0.74099	CGG	.		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568	
IKZF3	22806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37934013	37934013	+	Silent	SNP	C	C	A	rs560854650		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:37934013C>A	ENST00000346872.3	-	7	778	c.717G>T	c.(715-717)gcG>gcT	p.A239A	IKZF3_ENST00000535189.1_Silent_p.A205A|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000351680.3_Silent_p.A200A|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000394189.2_Silent_p.A57A|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377958.2_Silent_p.A152A|IKZF3_ENST00000377944.3_Silent_p.A96A|IKZF3_ENST00000439016.2_Silent_p.A144A|IKZF3_ENST00000467757.1_Silent_p.A183A|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000439167.2_Silent_p.A166A|IKZF3_ENST00000583368.1_5'UTR	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	239					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCTTGCCTCCGCACTTGCTA	0.423																																					p.A239A		.											.	IKZF3-971	0			c.G717T						.						145.0	155.0	152.0					17																	37934013		2203	4300	6503	SO:0001819	synonymous_variant	22806	exon7			TGCCTCCGCACTT	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.717G>T	17.37:g.37934013C>A		95	0		105	42	NM_012481	0	0	0	0	0	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404714	0.11754	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	T	0.72220	0.3433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72465	-0.4285	4	.	.	.	-0.0253	16.1385	0.81506	0.0:0.8659:0.1341:0.0	.	.	.	.	L	154;193	.	.	R	-	2	0	IKZF3	35187539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	1.396000	0.46663	0.650000	0.86243	CGG	.		0.423	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
RAPGEFL1	51195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38345578	38345578	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:38345578C>T	ENST00000456989.2	+	6	658	c.612C>T	c.(610-612)ccC>ccT	p.P204P	RAPGEFL1_ENST00000436615.3_Silent_p.P149P|RAPGEFL1_ENST00000264644.6_Silent_p.P149P|RAPGEFL1_ENST00000544503.1_Silent_p.P198P|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	355					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAGAGGAGCCCGCGGGGCGTG	0.557																																					p.P149P	Esophageal Squamous(28;274 750 6870 14218 42203)	.											.	RAPGEFL1-229	0			c.C447T						.						126.0	133.0	131.0					17																	38345578		2203	4300	6503	SO:0001819	synonymous_variant	51195	exon6			GGAGCCCGCGGGG	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.612C>T	17.37:g.38345578C>T		110	0		58	39	NM_016339	0	0	1	3	2		Silent	SNP	ENST00000456989.2	37																																																																																				.		0.557	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339	
SMARCE1	6605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38786977	38786977	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:38786977G>A	ENST00000348513.6	-	10	1796	c.1016C>T	c.(1015-1017)cCg>cTg	p.P339L	SMARCE1_ENST00000578044.1_Missense_Mutation_p.P269L|SMARCE1_ENST00000377808.4_Missense_Mutation_p.P304L|SMARCE1_ENST00000431889.2_Missense_Mutation_p.P321L|SMARCE1_ENST00000544009.1_Missense_Mutation_p.P269L|SMARCE1_ENST00000580419.1_Missense_Mutation_p.P304L|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Missense_Mutation_p.P269L	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	339	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGTCTCCATCGGAATGTTCTC	0.488																																					p.P339L		.											.	SMARCE1-227	0			c.C1016T						.						387.0	299.0	329.0					17																	38786977		2203	4300	6503	SO:0001583	missense	6605	exon10			TCCATCGGAATGT	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1016C>T	17.37:g.38786977G>A	ENSP00000323967:p.Pro339Leu	121	0		71	63	NM_003079	0	0	0	0	0	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271067|4.271067	0.80469|0.80469	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024|ENST00000400122	T;T;T|.	0.18810|.	2.19;2.2;2.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.211278|.	0.49916|.	D|.	0.000131|.	T|.	0.59032|.	0.2164|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.39404|.	0.672;0.672;0.672|.	B;B;B|.	0.28553|.	0.091;0.062;0.062|.	T|.	0.52689|.	-0.8542|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4309|19.4309	0.94765|0.94765	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;304;339|.	C0IMW5;C0IMW4;Q969G3|.	.;.;SMCE1_HUMAN|.	L|X	339;269;321;304;133|165	ENSP00000323967:P339L;ENSP00000445370:P321L;ENSP00000367039:P304L|.	ENSP00000323967:P339L|.	P|R	-|-	2|1	0|2	SMARCE1|SMARCE1	36040503|36040503	1.000000|1.000000	0.71417|0.71417	0.618000|0.618000	0.29105|0.29105	0.938000|0.938000	0.57974|0.57974	8.285000|8.285000	0.89914|0.89914	2.663000|2.663000	0.90544|0.90544	0.561000|0.561000	0.74099|0.74099	CCG|CGA	.		0.488	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079	
KRT33B	3884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39521212	39521212	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39521212G>A	ENST00000251646.3	-	6	965	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	306	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587																																					p.R306C		.											.	KRT33B-90	0			c.C916T						.						47.0	53.0	51.0					17																	39521212		2192	4300	6492	SO:0001583	missense	3884	exon6			TGTAGCGGGCCTC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.916C>T	17.37:g.39521212G>A	ENSP00000251646:p.Arg306Cys	83	0		107	104	NM_002279	0	0	0	0	0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.288481	0.80914	.	.	ENSG00000131738	ENST00000251646	D	0.90563	-2.69	4.85	4.85	0.62838	Filament (1);	0.000000	0.64402	D	0.000003	D	0.96087	0.8725	M	0.90705	3.14	0.47905	D	0.999541	D	0.89917	1.0	D	0.74023	0.982	D	0.96726	0.9536	10	0.87932	D	0	.	17.494	0.87712	0.0:0.0:1.0:0.0	.	306	Q14525	KT33B_HUMAN	C	306	ENSP00000251646:R306C	ENSP00000251646:R306C	R	-	1	0	KRT33B	36774738	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.576000	0.53878	2.666000	0.90696	0.650000	0.86243	CGC	.		0.587	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT31	3881	bcgsc.ca	37	17	39551197	39551197	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39551197G>A	ENST00000251645.2	-	6	1052	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	334	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGGTTCTGCCGCTCCAGGTCA	0.627																																					p.R334W		.											.	KRT31-90	0			c.C1000T						.						106.0	100.0	102.0					17																	39551197		2203	4300	6503	SO:0001583	missense	3881	exon6			TCTGCCGCTCCAG	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1000C>T	17.37:g.39551197G>A	ENSP00000251645:p.Arg334Trp	126	2		125	11	NM_002277	0	0	0	0	0	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	19.53	3.845430	0.71603	.	.	ENSG00000094796	ENST00000251645	D	0.90444	-2.67	5.52	3.28	0.37604	Filament (1);	0.000000	0.64402	D	0.000016	D	0.96346	0.8808	H	0.96518	3.835	0.35005	D	0.756314	D	0.89917	1.0	D	0.85130	0.997	D	0.98844	1.0756	10	0.87932	D	0	.	10.9631	0.47397	0.0:0.104:0.5747:0.3213	.	334	Q15323	K1H1_HUMAN	W	334	ENSP00000251645:R334W	ENSP00000251645:R334W	R	-	1	2	KRT31	36804723	0.956000	0.32656	1.000000	0.80357	0.994000	0.84299	1.033000	0.30191	1.306000	0.44926	0.650000	0.86243	CGG	.		0.627	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT32	3882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	39623234	39623234	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39623234C>T	ENST00000225899.3	-	1	447	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	115	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCCAGCTGCCGCACCCTCGT	0.597																																					p.R115Q		.											.	KRT32-90	0			c.G344A						.						95.0	90.0	92.0					17																	39623234		2203	4300	6503	SO:0001583	missense	3882	exon1			AGCTGCCGCACCC	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.344G>A	17.37:g.39623234C>T	ENSP00000225899:p.Arg115Gln	89	0		86	38	NM_002278	0	0	0	0	0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476124	0.63737	.	.	ENSG00000108759	ENST00000225899	D	0.92099	-2.97	5.08	5.08	0.68730	Filament (1);	0.000000	0.37483	N	0.002063	D	0.96901	0.8988	M	0.91717	3.235	0.36347	D	0.859832	D	0.89917	1.0	D	0.76575	0.988	D	0.99943	1.1439	10	0.87932	D	0	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	115	Q14532	K1H2_HUMAN	Q	115	ENSP00000225899:R115Q	ENSP00000225899:R115Q	R	-	2	0	KRT32	36876760	0.906000	0.30813	0.837000	0.33122	0.015000	0.08874	1.902000	0.39848	2.526000	0.85167	0.462000	0.41574	CGG	.		0.597	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
KRT14	3861	broad.mit.edu	37	17	39743071	39743071	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39743071G>A	ENST00000167586.6	-	1	102	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	6	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.652																																					p.R6C		.											.	KRT14-91	0			c.C16T						.						6.0	6.0	6.0					17																	39743071		1923	3834	5757	SO:0001583	missense	3861	exon1			ACTGGCGGCTGCA	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.16C>T	17.37:g.39743071G>A	ENSP00000167586:p.Arg6Cys	24	0		39	4	NM_000526	0	0	0	0	0	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.439039	0.43326	.	.	ENSG00000186847	ENST00000167586	D	0.84370	-1.84	4.9	3.86	0.44501	.	0.000000	0.49305	D	0.000143	D	0.86973	0.6062	L	0.38175	1.15	0.45295	D	0.998294	D	0.89917	1.0	D	0.64410	0.925	D	0.87147	0.2206	10	0.51188	T	0.08	.	13.774	0.63041	0.0:0.0:0.776:0.224	.	6	P02533	K1C14_HUMAN	C	6	ENSP00000167586:R6C	ENSP00000167586:R6C	R	-	1	0	KRT14	36996597	0.993000	0.37304	1.000000	0.80357	0.917000	0.54804	1.532000	0.36029	2.431000	0.82371	0.549000	0.68633	CGC	.		0.652	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
KRT17	3872	broad.mit.edu;bcgsc.ca	37	17	39775873	39775873	+	Silent	SNP	G	G	A	rs575174355		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39775873G>A	ENST00000311208.8	-	8	1339	c.1272C>T	c.(1270-1272)cgC>cgT	p.R424R	JUP_ENST00000540235.1_Silent_p.R583R	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	424	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGACCTGCTCGCGGGAGGAGA	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.001				p.R424R	Pancreas(92;1242 2086 39193 50508)	.											.	KRT17-92	0			c.C1272T						.						93.0	92.0	92.0					17																	39775873		2203	4300	6503	SO:0001819	synonymous_variant	3872	exon8			CTGCTCGCGGGAG	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1272C>T	17.37:g.39775873G>A		493	0		707	20	NM_000422	0	0	3	3	0	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																			.		0.652	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
STAT5B	6777	hgsc.bcm.edu;bcgsc.ca	37	17	40364022	40364023	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40364022_40364023delAC	ENST00000293328.3	-	13	1827_1828	c.1659_1660delGT	c.(1657-1662)gtgtccfs	p.S554fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	554					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGGACCAGGACACAGACAGGC	0.604																																					p.553_554del		.											.	STAT5B-850	0			c.1659_1660del						.																																			SO:0001589	frameshift_variant	6777	exon13			ACCAGGACACAGA	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1659_1660delGT	17.37:g.40364024_40364025delAC	ENSP00000293328:p.Ser554fs	303	3		218	197	NM_012448	0	0	0	0	0	Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	CCDS11423.1																																																																																			.		0.604	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
CNTNAP1	8506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40838076	40838076	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40838076C>T	ENST00000264638.4	+	6	1034	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	273	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCGATTTGGCCGCGATGTAAA	0.572																																					p.R273C		.											.	CNTNAP1-525	0			c.C817T						.						201.0	189.0	193.0					17																	40838076		2203	4300	6503	SO:0001583	missense	8506	exon6			TTTGGCCGCGATG	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.817C>T	17.37:g.40838076C>T	ENSP00000264638:p.Arg273Cys	187	0		164	76	NM_003632	0	0	0	1	1		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514085	0.64522	.	.	ENSG00000108797	ENST00000264638	T	0.79352	-1.26	5.38	4.37	0.52481	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.090096	0.47852	D	0.000204	D	0.89949	0.6863	M	0.91406	3.205	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.92174	0.5746	10	0.87932	D	0	.	15.484	0.75551	0.1389:0.8611:0.0:0.0	.	273	P78357	CNTP1_HUMAN	C	273	ENSP00000264638:R273C	ENSP00000264638:R273C	R	+	1	0	CNTNAP1	38091602	0.998000	0.40836	0.989000	0.46669	0.193000	0.23685	3.797000	0.55514	2.498000	0.84270	0.561000	0.74099	CGC	.		0.572	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
WNK4	65266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40948205	40948205	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40948205C>T	ENST00000246914.5	+	17	3517	c.3496C>T	c.(3496-3498)Cgg>Tgg	p.R1166W	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1166					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTGTACAGCCGGCTGGGGAA	0.597																																					p.R1166W	Esophageal Squamous(6;201 374 4964 23855 42828)	.											.	WNK4-336	0			c.C3496T						.						34.0	41.0	38.0					17																	40948205		2203	4300	6503	SO:0001583	missense	65266	exon17			TACAGCCGGCTGG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3496C>T	17.37:g.40948205C>T	ENSP00000246914:p.Arg1166Trp	21	0		52	47	NM_032387	0	0	0	2	2	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148409	0.37923	.	.	ENSG00000126562	ENST00000246914	T	0.78816	-1.21	4.61	1.14	0.20703	.	0.000000	0.39985	N	0.001219	D	0.85544	0.5721	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86701	0.1929	10	0.87932	D	0	-14.1368	13.9491	0.64104	0.5049:0.4951:0.0:0.0	.	1166	Q96J92	WNK4_HUMAN	W	1166	ENSP00000246914:R1166W	ENSP00000246914:R1166W	R	+	1	2	WNK4	38201731	0.974000	0.33945	1.000000	0.80357	0.973000	0.67179	0.889000	0.28282	0.514000	0.28300	0.555000	0.69702	CGG	.		0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		
AOC3	8639	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	41004636	41004636	+	Missense_Mutation	SNP	C	C	T	rs368455364		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:41004636C>T	ENST00000308423.2	+	1	1436	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	426			R -> H (in dbSNP:rs33986943). {ECO:0000269|Ref.6}.		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAAGACAATACGTGATGCCTT	0.587																																					p.R426C	NSCLC(3;192 220 10664 11501 16477)	.											.	AOC3-516	0			c.C1276T						.	C	CYS/ARG	0,4406		0,0,2203	93.0	83.0	86.0		1276	4.6	0.0	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	AOC3	NM_003734.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/764	41004636	1,13005	2203	4300	6503	SO:0001583	missense	8639	exon1			ACAATACGTGATG	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1276C>T	17.37:g.41004636C>T	ENSP00000312326:p.Arg426Cys	196	0		168	9	NM_003734	0	0	3	3	0	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092728	0.36952	0.0	1.16E-4	ENSG00000131471	ENST00000308423	T	0.04119	3.7	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.701778	0.14252	N	0.331410	T	0.12433	0.0302	L	0.59436	1.845	0.09310	N	0.999999	D	0.71674	0.998	P	0.54706	0.759	T	0.06250	-1.0837	10	0.66056	D	0.02	.	10.9125	0.47116	0.3106:0.6894:0.0:0.0	.	426	Q16853	AOC3_HUMAN	C	426	ENSP00000312326:R426C	ENSP00000312326:R426C	R	+	1	0	AOC3	38258162	0.000000	0.05858	0.005000	0.12908	0.645000	0.38454	1.361000	0.34136	2.591000	0.87537	0.591000	0.81541	CGT	.		0.587	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
HDAC5	10014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42170066	42170066	+	Silent	SNP	G	G	A	rs199980075		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:42170066G>A	ENST00000393622.2	-	7	1081	c.750C>T	c.(748-750)gaC>gaT	p.D250D	HDAC5_ENST00000225983.6_Silent_p.D251D|HDAC5_ENST00000336057.5_Silent_p.D250D|HDAC5_ENST00000586802.1_Silent_p.D250D	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	250					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)			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)		GGGGGAAGTCGTCTCGACTGT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14517	0.0		0.0	False		,,,				2504	0.0				p.D251D		.											.	HDAC5-227	0			c.C753T						.	G	,	5,4395		0,5,2195	36.0	41.0	39.0		753,750	2.1	1.0	17		39	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	HDAC5	NM_001015053.1,NM_005474.4	,	0,5,6493	AA,AG,GG		0.0,0.1136,0.0385	,	251/1124,250/1123	42170066	5,12991	2200	4298	6498	SO:0001819	synonymous_variant	10014	exon7			GAAGTCGTCTCGA	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.750C>T	17.37:g.42170066G>A		81	0		69	60	NM_001015053	0	0	0	8	8	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	CCDS45696.1																																																																																			G|0.999;A|0.000		0.632	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053	
TTLL6	284076	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	46878650	46878650	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:46878650C>T	ENST00000393382.3	-	5	719	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGGGAAAAAGCGGAAATCTTT	0.537																																					p.R193H		.											.	TTLL6-90	0			c.G578A						.						108.0	110.0	110.0					17																	46878650		692	1591	2283	SO:0001583	missense	284076	exon5			AAAAAGCGGAAAT	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.578G>A	17.37:g.46878650C>T	ENSP00000377043:p.Arg193His	183	1		122	46	NM_001130918	0	0	0	1	1		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	5.941	0.357662	0.11239	.	.	ENSG00000170703	ENST00000440941;ENST00000393382	.	.	.	5.31	3.07	0.35406	.	0.080536	0.48286	N	0.000195	T	0.13756	0.0333	N	0.05012	-0.13	0.26757	N	0.970081	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.06891	T	0.86	.	6.8338	0.23925	0.1339:0.0755:0.0:0.7906	.	145	Q8N841	TTLL6_HUMAN	H	193;145	.	ENSP00000377043:R145H	R	-	2	0	TTLL6	44233649	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.638000	0.46562	0.302000	0.22762	-0.294000	0.09567	CGC	.		0.537	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
ZNF652	22834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	47395005	47395005	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:47395005C>T	ENST00000362063.2	-	2	401	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZNF652_ENST00000430262.2_Missense_Mutation_p.R28H	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTGACCACGACGGCTATCTTC	0.473																																					p.R28H		.											.	ZNF652-91	0			c.G83A						.						85.0	68.0	73.0					17																	47395005		2203	4300	6503	SO:0001583	missense	22834	exon2			CCACGACGGCTAT	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.83G>A	17.37:g.47395005C>T	ENSP00000354686:p.Arg28His	254	0		218	120	NM_001145365	0	0	0	0	0	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	0.584	-0.835727	0.02713	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98862	-5.19;-5.19	5.76	0.981	0.19756	.	0.355141	0.33161	N	0.005208	D	0.94272	0.8160	N	0.12182	0.205	0.27663	N	0.947027	B	0.02656	0.0	B	0.04013	0.001	D	0.89133	0.3511	10	0.42905	T	0.14	-3.6101	10.7031	0.45939	0.0:0.676:0.0:0.324	.	28	Q9Y2D9	ZN652_HUMAN	H	28	ENSP00000354686:R28H;ENSP00000416305:R28H	ENSP00000354686:R28H	R	-	2	0	ZNF652	44750004	0.490000	0.26012	0.928000	0.36995	0.992000	0.81027	0.931000	0.28871	0.348000	0.23949	0.655000	0.94253	CGT	.		0.473	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
YPEL2	388403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	57430826	57430826	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:57430826G>A	ENST00000312655.4	+	2	374	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	YPEL2_ENST00000585166.1_Missense_Mutation_p.R19Q|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	19						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCCTGCCACCGGACCTACAGC	0.552																																					p.R19Q	Melanoma(86;1113 1364 8518 42220 42625)	.											.	YPEL2-90	0			c.G56A						.						164.0	133.0	143.0					17																	57430826		2203	4300	6503	SO:0001583	missense	388403	exon2			GCCACCGGACCTA	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.56G>A	17.37:g.57430826G>A	ENSP00000312272:p.Arg19Gln	149	0		123	112	NM_001005404	0	0	0	0	0	A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605098	0.96626	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.72479	2.2	0.80722	D	1	D	0.63880	0.993	P	0.55455	0.776	T	0.76266	-0.3022	9	0.62326	D	0.03	0.133	19.545	0.95291	0.0:0.0:1.0:0.0	.	19	Q96QA6	YPEL2_HUMAN	Q	19	.	ENSP00000312272:R19Q	R	+	2	0	YPEL2	54785608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGG	.		0.552	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	
STRADA	92335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	61780974	61780974	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:61780974G>A	ENST00000336174.6	-	13	1393	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	STRADA_ENST00000375840.4_Silent_p.D369D|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000392950.4_3'UTR|STRADA_ENST00000580039.1_5'Flank|LIMD2_ENST00000578402.1_5'Flank	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	427					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ACTCCCAATCGTCCACCTCCA	0.592																																					p.D427D		.											.	STRADA-547	0			c.C1281T						.						62.0	56.0	58.0					17																	61780974		2203	4300	6503	SO:0001819	synonymous_variant	92335	exon13			CCAATCGTCCACC	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1281C>T	17.37:g.61780974G>A		132	0		86	23	NM_001003787	0	0	11	15	4	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	CCDS32703.1																																																																																			.		0.592	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1		
GRIN2C	2905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72843589	72843589	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:72843589G>A	ENST00000293190.5	-	9	2005	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P620L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	620					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGCCCCGCGGGTTCTCGAT	0.607																																					p.P620L		.											.	GRIN2C-228	0			c.C1859T						.						80.0	72.0	74.0					17																	72843589		2203	4300	6503	SO:0001583	missense	2905	exon9			CCCCGCGGGTTCT		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1859C>T	17.37:g.72843589G>A	ENSP00000293190:p.Pro620Leu	138	0		114	43	NM_000835	0	0	7	22	15	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721522	0.48728	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.58060	0.36	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82851	-0.0253	10	0.87932	D	0	.	16.89	0.86084	0.0:0.0:1.0:0.0	.	654;620	Q8IW23;Q14957	.;NMDE3_HUMAN	L	620;654	ENSP00000293190:P620L	ENSP00000293190:P620L	P	-	2	0	GRIN2C	70355184	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.588000	0.98232	2.357000	0.79964	0.561000	0.74099	CCG	.		0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
ITGB4	3691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	73750779	73750779	+	Missense_Mutation	SNP	G	G	A	rs546010811	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:73750779G>A	ENST00000200181.3	+	34	4628	c.4441G>A	c.(4441-4443)Gtg>Atg	p.V1481M	ITGB4_ENST00000339591.3_Missense_Mutation_p.V1411M|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.V1411M|ITGB4_ENST00000449880.2_Missense_Mutation_p.V1411M|ITGB4_ENST00000450894.3_Missense_Mutation_p.V1411M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1481					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCACCGCGTGCTAAGCAC	0.622													g|||	2	0.000399361	0.0	0.0	5008	,	,		20650	0.0		0.0	False		,,,				2504	0.002				p.V1481M		.											.	ITGB4-227	0			c.G4441A						.						287.0	166.0	207.0					17																	73750779		2203	4300	6503	SO:0001583	missense	3691	exon34			CACCGCGTGCTAA		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4441G>A	17.37:g.73750779G>A	ENSP00000200181:p.Val1481Met	178	1		164	151	NM_000213	0	0	0	1	1	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	g	5.160	0.215063	0.09810	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76060	-0.99;-0.94;-0.94	5.39	-0.352	0.12598	.	0.656417	0.14341	N	0.325708	T	0.55893	0.1949	L	0.27053	0.805	0.09310	N	0.999994	B;B;B	0.20368	0.044;0.012;0.007	B;B;B	0.19946	0.027;0.003;0.003	T	0.42766	-0.9432	10	0.40728	T	0.16	.	5.5283	0.16970	0.2745:0.0:0.5992:0.1263	.	1411;1411;1481	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	M	1481;1411;1411	ENSP00000200181:V1481M;ENSP00000344079:V1411M;ENSP00000400217:V1411M	ENSP00000200181:V1481M	V	+	1	0	ITGB4	71262374	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.471000	0.06631	-0.014000	0.14175	-0.215000	0.12644	GTG	.		0.622	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
ZACN	353174	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	74077421	74077421	+	Missense_Mutation	SNP	G	G	A	rs143316623	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:74077421G>A	ENST00000334586.5	+	6	690	c.607G>A	c.(607-609)Gta>Ata	p.V203I	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	203					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAGGGAATACGTAGTTTATGA	0.562													G|||	10	0.00199681	0.0076	0.0	5008	,	,		18766	0.0		0.0	False		,,,				2504	0.0				p.V203I		.											.	ZACN-90	0			c.G607A						.	G	,,,,,ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	183.0	176.0	178.0		,,,,,607	2.6	0.0	17	dbSNP_134	178	1,8599		0,1,4299	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,,,,possibly-damaging	,,,,,203/413	74077421	16,12990	2203	4300	6503	SO:0001583	missense	353174	exon6			GAATACGTAGTTT	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.607G>A	17.37:g.74077421G>A	ENSP00000334854:p.Val203Ile	221	0		195	14	NM_180990	0	0	73	84	11	Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056102	0.55325	0.003404	1.16E-4	ENSG00000186919	ENST00000334586	T	0.77750	-1.12	4.73	2.6	0.31112	Neurotransmitter-gated ion-channel ligand-binding (2);	0.340242	0.24465	N	0.038296	T	0.68869	0.3048	M	0.63428	1.95	0.09310	N	0.999996	P	0.44627	0.839	B	0.39935	0.314	T	0.64711	-0.6343	10	0.59425	D	0.04	-17.6667	3.7632	0.08611	0.2295:0.207:0.5636:0.0	.	203	Q401N2	ZACN_HUMAN	I	203	ENSP00000334854:V203I	ENSP00000334854:V203I	V	+	1	0	ZACN	71589016	0.000000	0.05858	0.002000	0.10522	0.852000	0.48524	0.386000	0.20702	1.215000	0.43411	0.561000	0.74099	GTA	G|0.998;A|0.002		0.562	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990	
TNRC6C	57690	bcgsc.ca	37	17	76045635	76045635	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76045635G>A	ENST00000588061.1	+	5	1219	c.492G>A	c.(490-492)acG>acA	p.T164T	TNRC6C_ENST00000301624.4_Silent_p.T164T|TNRC6C_ENST00000541771.1_Silent_p.T164T|TNRC6C_ENST00000544502.1_Silent_p.T164T|TNRC6C_ENST00000335749.4_Silent_p.T164T|TNRC6C_ENST00000588847.1_Silent_p.T164T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	164	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACCACAAACGTCCACTTCTC	0.483																																					p.T164T		.											.	TNRC6C-24	0			c.G492A						.						124.0	125.0	124.0					17																	76045635		2048	4192	6240	SO:0001819	synonymous_variant	57690	exon4			ACAAACGTCCACT	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.492G>A	17.37:g.76045635G>A		73	2		42	37	NM_018996	0	0	0	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
TMC6	11322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76118720	76118720	+	Missense_Mutation	SNP	C	C	T	rs150505551	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76118720C>T	ENST00000590602.1	-	10	1352	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.R398H|TMC6_ENST00000392467.3_Missense_Mutation_p.R398H|TMC6_ENST00000306591.7_Missense_Mutation_p.R398H|TMC6_ENST00000591436.1_Missense_Mutation_p.R37H|TMC6_ENST00000322933.4_Missense_Mutation_p.R37H|TMC6_ENST00000589553.1_Missense_Mutation_p.R171H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	398					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGCTGGAGGCGGGAGGCCCG	0.657																																					p.R398H		.											.	TMC6-90	0			c.G1193A						.	C	HIS/ARG,HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	50.0	44.0	46.0		1193,1193	4.0	1.0	17	dbSNP_134	46	0,8600		0,0,4300	no	missense,missense	TMC6	NM_001127198.1,NM_007267.6	29,29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	398/806,398/806	76118720	2,13000	2201	4300	6501	SO:0001583	missense	11322	exon10			TGGAGGCGGGAGG	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1193G>A	17.37:g.76118720C>T	ENSP00000465261:p.Arg398His	61	0		120	38	NM_001127198	0	0	1	1	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364820	0.61513	4.54E-4	0.0	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591;ENST00000322933	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.96	3.96	0.45880	.	0.316995	0.31909	N	0.006868	T	0.64713	0.2623	M	0.69823	2.125	0.09310	N	1	D;D;D;P;D	0.89917	1.0;1.0;0.998;0.721;0.997	D;D;P;B;P	0.72625	0.978;0.978;0.828;0.115;0.881	T	0.56541	-0.7962	10	0.62326	D	0.03	-10.2286	4.8805	0.13677	0.2127:0.6764:0.0:0.1108	.	398;171;398;398;37	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;.;TMC6_HUMAN;.	H	398;398;398;37	ENSP00000313408:R398H;ENSP00000376260:R398H;ENSP00000306405:R398H;ENSP00000313479:R37H	ENSP00000306405:R398H	R	-	2	0	TMC6	73630315	0.039000	0.19947	0.975000	0.42487	0.986000	0.74619	0.508000	0.22692	2.021000	0.59480	0.462000	0.41574	CGC	C|1.000;T|0.000		0.657	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1		
CYTH1	9267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76695039C>T	ENST00000446868.3	-	8	632	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000589297.1_Missense_Mutation_p.V129I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I			Q15438	CYH1_HUMAN	cytohesin 1	188	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478																																					p.V188I		.											.	CYTH1-228	0			c.G562A						.						203.0	197.0	199.0					17																	76695039		2203	4300	6503	SO:0001583	missense	9267	exon8			AGAGGACGTAACA	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.562G>A	17.37:g.76695039C>T	ENSP00000389095:p.Val188Ile	144	0		104	48	NM_017456	0	0	0	0	0	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481344	0.44147	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.056226	0.64402	D	0.000001	T	0.34890	0.0913	N	0.22421	0.69	0.49915	D	0.999838	B;B	0.15141	0.012;0.01	B;B	0.23419	0.046;0.044	T	0.12091	-1.0561	10	0.31617	T	0.26	.	12.4059	0.55439	0.0:0.9231:0.0:0.0769	.	188;188	Q15438;Q15438-2	CYH1_HUMAN;.	I	188;188;129;129;188;25	ENSP00000389095:V188I;ENSP00000354398:V188I	ENSP00000262763:V188I	V	-	1	0	CYTH1	74206634	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.853000	0.55941	2.475000	0.83589	0.591000	0.81541	GTC	.		0.478	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
RPTOR	57521	bcgsc.ca	37	17	78599562	78599562	+	Silent	SNP	C	C	G	rs17848685	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:78599562C>G	ENST00000306801.3	+	2	596	c.234C>G	c.(232-234)acC>acG	p.T78T	RPTOR_ENST00000544334.2_Silent_p.T78T|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Silent_p.T78T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	78					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|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)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGGTGAAGACCACGCCCTGTG	0.552													C|||	579	0.115615	0.0431	0.1239	5008	,	,		13519	0.0565		0.2137	False		,,,				2504	0.1677				p.T78T		.											.	RPTOR-847	0			c.C234G						.	C	,	304,4102	165.1+/-196.6	10,284,1909	212.0	162.0	178.0		234,234	1.7	1.0	17	dbSNP_123	178	1895,6705	336.0+/-321.7	209,1477,2614	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	219,1761,4523	GG,GC,CC		22.0349,6.8997,16.9076	,	78/1178,78/1336	78599562	2199,10807	2203	4300	6503	SO:0001819	synonymous_variant	57521	exon2			GAAGACCACGCCC		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.234C>G	17.37:g.78599562C>G		147	0		170	7	NM_001163034	0	0	0	0	0	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																			C|0.836;G|0.164		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
BAIAP2	10458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	79031712	79031712	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79031712C>T	ENST00000321300.6	+	3	255	c.162C>T	c.(160-162)gaC>gaT	p.D54D	BAIAP2_ENST00000321280.7_Silent_p.D54D|BAIAP2_ENST00000575245.1_Silent_p.D87D|BAIAP2_ENST00000435091.3_Silent_p.D54D|BAIAP2_ENST00000575712.1_Silent_p.D54D|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.D54D|BAIAP2_ENST00000392411.3_Intron	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	54	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTACTTTGACGCCCTGGTGA	0.602																																					p.D54D		.											.	BAIAP2-90	0			c.C162T						.						50.0	47.0	48.0					17																	79031712		2203	4300	6503	SO:0001819	synonymous_variant	10458	exon3			CTTTGACGCCCTG	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.162C>T	17.37:g.79031712C>T		30	0		23	20	NM_001144888	0	0	2	5	3	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	CCDS11775.1																																																																																			.		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		
AATK	9625	hgsc.bcm.edu	37	17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	rs61738821	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000417379.1_Missense_Mutation_p.A438T|MIR657_ENST00000385003.1_RNA|AATK_ENST00000572339.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2.0	2.0	2.0					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	0	0		4	4	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920	
SLC38A10	124565	hgsc.bcm.edu	37	17	79219637	79219637	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79219637G>T	ENST00000374759.3	-	16	3462	c.3079C>A	c.(3079-3081)Ccg>Acg	p.P1027T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1027					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCCCCCCGGGACAGCTCGT	0.697																																					p.P1027T		.											.	SLC38A10-70	0			c.C3079A						.						21.0	26.0	25.0					17																	79219637		1941	4116	6057	SO:0001583	missense	124565	exon16			CCCCCGGGACAGC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3079C>A	17.37:g.79219637G>T	ENSP00000363891:p.Pro1027Thr	1	0		96	90	NM_001037984	1	0	5	53	47	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904422	0.52333	.	.	ENSG00000157637	ENST00000374759	T	0.11063	2.81	3.18	2.16	0.27623	.	0.903777	0.08840	U	0.886013	T	0.28566	0.0707	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.03784	-1.1004	10	0.72032	D	0.01	-5.5339	11.1838	0.48644	0.0:0.1874:0.8126:0.0	.	1027	Q9HBR0	S38AA_HUMAN	T	1027	ENSP00000363891:P1027T	ENSP00000363891:P1027T	P	-	1	0	SLC38A10	76834232	0.300000	0.24435	0.054000	0.19295	0.034000	0.12701	3.454000	0.52986	0.868000	0.35678	0.591000	0.81541	CCG	.		0.697	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
DUS1L	64118	bcgsc.ca;mdanderson.org	37	17	80019852	80019852	+	Missense_Mutation	SNP	G	G	A	rs138482688		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:80019852G>A	ENST00000354321.7	-	5	1003	c.518C>T	c.(517-519)aCg>aTg	p.T173M	DUS1L_ENST00000306796.5_Missense_Mutation_p.T173M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	173							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCGTGCACCGTCAGCAACTA	0.672																																					p.T173M		.											.	DUS1L-91	0			c.C518T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	87.0	78.0	81.0		518	4.1	1.0	17	dbSNP_134	81	0,8600		0,0,4300	no	missense	DUS1L	NM_022156.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	173/474	80019852	1,13005	2203	4300	6503	SO:0001583	missense	64118	exon6			TGCACCGTCAGCA		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.518C>T	17.37:g.80019852G>A	ENSP00000346280:p.Thr173Met	41	1		63	59	NM_022156	0	0	0	0	0	A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832443	0.32421	2.27E-4	0.0	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.38560	1.13;1.13;1.13	4.12	4.12	0.48240	Aldolase-type TIM barrel (1);	0.050500	0.85682	D	0.000000	T	0.77980	0.4212	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.78314	0.964;0.991;0.963	D	0.87893	0.2685	10	0.87932	D	0	-10.6027	16.5301	0.84355	0.0:0.0:1.0:0.0	.	46;173;42	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	173;173;46;41	ENSP00000346280:T173M;ENSP00000303515:T173M;ENSP00000445110:T41M	ENSP00000303515:T173M	T	-	2	0	DUS1L	77613141	1.000000	0.71417	0.954000	0.39281	0.445000	0.32107	8.683000	0.91236	2.122000	0.65172	0.557000	0.71058	ACG	G|1.000;A|0.000		0.672	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156	
EMILIN2	84034	ucsc.edu;bcgsc.ca;mdanderson.org	37	18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	rs546388595	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21889	0.0		0.0	False		,,,				2504	0.002				p.R476W		.											.	EMILIN2-93	1	Substitution - Missense(1)	large_intestine(1)	c.C1426T						.						87.0	96.0	93.0					18																	2891551		2203	4300	6503	SO:0001583	missense	84034	exon4			ACCCTTCGGGGCG	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp	152	2		117	48	NM_032048	0	0	0	0	0	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG	.		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	29104699	29104699	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:29104699G>A	ENST00000261590.8	+	8	1071	c.862G>A	c.(862-864)Gta>Ata	p.V288I		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCAAGTCAACGTAGAAGTTAC	0.313																																					p.V288I		.											.	DSG2-563	0			c.G862A						.						90.0	89.0	89.0					18																	29104699		1853	4107	5960	SO:0001583	missense	1829	exon8			GTCAACGTAGAAG	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.862G>A	18.37:g.29104699G>A	ENSP00000261590:p.Val288Ile	250	0		173	137	NM_001943	0	0	0	0	0	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404338	0.42613	.	.	ENSG00000046604	ENST00000261590	T	0.52983	0.64	5.35	5.35	0.76521	Cadherin (3);Cadherin-like (1);	0.000000	0.53938	D	0.000052	T	0.61677	0.2366	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.59979	-0.7352	10	0.38643	T	0.18	.	9.7779	0.40630	0.1505:0.0:0.8495:0.0	.	288	Q14126	DSG2_HUMAN	I	288	ENSP00000261590:V288I	ENSP00000261590:V288I	V	+	1	0	DSG2	27358697	1.000000	0.71417	0.981000	0.43875	0.040000	0.13550	4.783000	0.62403	2.780000	0.95670	0.655000	0.94253	GTA	.		0.313	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
SLC25A52	147407	broad.mit.edu;bcgsc.ca	37	18	29340269	29340269	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:29340269G>A	ENST00000579441.2	-	1	355	c.356C>T	c.(355-357)gCa>gTa	p.A119V	SLC25A52_ENST00000269205.5_Missense_Mutation_p.A129V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	119					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCATGGGTTGCAAACTCTGG	0.498																																					p.A129V		.											.	.	0			c.C386T						.						136.0	129.0	131.0					18																	29340269		2203	4300	6503	SO:0001583	missense	147407	exon1			TGGGTTGCAAACT		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.356C>T	18.37:g.29340269G>A	ENSP00000462754:p.Ala119Val	238	0		197	8	NM_001034172	0	0	1	1	0		Missense_Mutation	SNP	ENST00000579441.2	37		.	.	.	.	.	.	.	.	.	.	G	7.842	0.722162	0.15372	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.77750	-1.12	1.03	0.0403	0.14208	Mitochondrial carrier domain (2);	0.465954	0.21328	N	0.076352	T	0.53334	0.1790	N	0.16743	0.435	0.34640	D	0.720526	B	0.02656	0.0	B	0.10450	0.005	T	0.35201	-0.9798	10	0.16420	T	0.52	.	3.8087	0.08788	0.4999:0.0:0.5001:0.0	.	119	Q3SY17	MCAR2_HUMAN	V	129;119	ENSP00000372612:A129V	ENSP00000372612:A129V	A	-	2	0	MCART2	27594267	0.753000	0.28349	0.062000	0.19696	0.577000	0.36160	4.160000	0.58164	0.003000	0.14656	0.505000	0.49811	GCA	.		0.498	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000	
EPG5	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43529494	43529494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:43529494G>A	ENST00000282041.5	-	5	1487	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	485					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCGGGGCATCGAAGAATATGG	0.418																																					p.R485X		.											.	EPG5-580	0			c.C1453T						.						86.0	84.0	85.0					18																	43529494		1867	4098	5965	SO:0001587	stop_gained	57724	exon5			GGCATCGAAGAAT	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1453C>T	18.37:g.43529494G>A	ENSP00000282041:p.Arg485*	104	0		61	24	NM_020964	0	0	0	0	0	A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	39	7.730626	0.98459	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.24	4.36	0.52297	.	0.739535	0.13249	N	0.402277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1884	15.5349	0.75996	0.0:0.0:0.8607:0.1393	.	.	.	.	X	485	.	ENSP00000282041:R485X	R	-	1	2	EPG5	41783492	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	4.732000	0.62029	1.317000	0.45149	0.650000	0.86243	CGA	.		0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
MBD1	4152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	47796100	47796100	+	3'UTR	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:47796100G>T	ENST00000591416.1	-	0	4020				MBD1_ENST00000436910.1_3'UTR|MBD1_ENST00000269471.5_Missense_Mutation_p.P554T|MBD1_ENST00000590208.1_Missense_Mutation_p.P623T|MBD1_ENST00000347968.3_3'UTR|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000269468.5_3'UTR|MBD1_ENST00000588937.1_Missense_Mutation_p.P554T|MBD1_ENST00000339998.6_3'UTR|MBD1_ENST00000353909.3_3'UTR|MBD1_ENST00000587605.1_Silent_p.T518T|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000349085.2_3'UTR			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						catcctcgtgggttccagctc	0.577																																					p.P623T		.											.	MBD1-228	0			c.C1867A						.						165.0	111.0	129.0					18																	47796100		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4152	exon16			CTCGTGGGTTCCA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1771C>A	18.37:g.47796100G>T		177	0		144	51	NM_001204136	0	0	17	46	29	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	8.933	0.963905	0.18583	.	.	ENSG00000141644	ENST00000269471	D	0.95069	-3.6	4.06	1.32	0.21799	.	.	.	.	.	D	0.89458	0.6721	.	.	.	0.09310	N	1	B	0.26809	0.16	B	0.21917	0.037	T	0.81609	-0.0855	8	0.87932	D	0	.	5.8293	0.18570	0.3358:0.0:0.6642:0.0	.	554	Q9UIS9-2	.	T	554	ENSP00000269471:P554T	ENSP00000269471:P554T	P	-	1	0	MBD1	46050098	0.650000	0.27331	0.000000	0.03702	0.759000	0.43091	1.495000	0.35627	0.290000	0.22444	-0.142000	0.14014	CCA	.		0.577	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	
CNDP2	55748	bcgsc.ca	37	18	72178161	72178161	+	Silent	SNP	T	T	C	rs2278159	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:72178161T>C	ENST00000324262.4	+	6	886	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CNDP2_ENST00000579847.1_Silent_p.Y190Y|CNDP2_ENST00000324301.8_Silent_p.Y106Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	190					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.Y190Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGTGGACTATGTCTGCATTT	0.507													T|||	1013	0.202276	0.0779	0.3026	5008	,	,		23053	0.2986		0.162	False		,,,				2504	0.2413				p.Y190Y		.											.	CNDP2-93	1	Substitution - coding silent(1)	stomach(1)	c.T570C						.	T	,	493,3913	230.4+/-244.6	34,425,1744	146.0	127.0	134.0		318,570	1.8	0.9	18	dbSNP_100	134	1634,6966	303.4+/-306.4	133,1368,2799	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	167,1793,4543	CC,CT,TT		19.0,11.1893,16.354	,	106/392,190/476	72178161	2127,10879	2203	4300	6503	SO:0001819	synonymous_variant	55748	exon6			GGACTATGTCTGC	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.570T>C	18.37:g.72178161T>C		266	0		231	7	NM_018235	0	0	2	2	0	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	CCDS12006.1																																																																																			T|0.825;C|0.175		0.507	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
SHC2	25759	hgsc.bcm.edu;broad.mit.edu	37	19	422360	422360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:422360delG	ENST00000264554.6	-	11	1405	c.1406delC	c.(1405-1407)cctfs	p.P469fs		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	469	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCGGCGGGTAGGGGGGCTGGG	0.687																																					p.P469fs		.											.	SHC2-392	0			c.1406delC						.						7.0	9.0	8.0					19																	422360		1946	4101	6047	SO:0001589	frameshift_variant	25759	exon11			CGGGTAGGGGGGC	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1406delC	19.37:g.422360delG	ENSP00000264554:p.Pro469fs	7	0		148	33	NM_012435	0	0	0	0	0	O60230|Q9NPL5|Q9UCX4	Frame_Shift_Del	DEL	ENST00000264554.6	37	CCDS45891.1																																																																																			.		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3		
SHC2	25759	hgsc.bcm.edu	37	19	436677	436677	+	Missense_Mutation	SNP	C	C	T	rs370125945		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:436677C>T	ENST00000264554.6	-	5	726	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	243	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGTGGTTGGCGATGACCTGT	0.716																																					p.A243T		.											.	SHC2-392	0			c.G727A						.	C	THR/ALA	0,4284		0,0,2142	32.0	40.0	37.0		727	3.6	0.9	19		37	2,8484		0,2,4241	no	missense	SHC2	NM_012435.2	58	0,2,6383	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	243/583	436677	2,12768	2142	4243	6385	SO:0001583	missense	25759	exon5			GGTTGGCGATGAC	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.727G>A	19.37:g.436677C>T	ENSP00000264554:p.Ala243Thr	6	0		156	39	NM_012435	0	0	0	0	0	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976436	0.74360	0.0	2.36E-4	ENSG00000129946	ENST00000264554	T	0.21191	2.02	4.63	3.59	0.41128	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.91300	3.195	0.53688	D	0.999979	D	0.67145	0.996	D	0.67900	0.954	T	0.62053	-0.6935	10	0.87932	D	0	-40.9382	12.0527	0.53515	0.0:0.9152:0.0:0.0848	.	243	P98077	SHC2_HUMAN	T	243	ENSP00000264554:A243T	ENSP00000264554:A243T	A	-	1	0	SHC2	387677	1.000000	0.71417	0.887000	0.34795	0.278000	0.26855	5.573000	0.67417	1.096000	0.41439	0.484000	0.47621	GCC	.		0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3		
CFD	1675	hgsc.bcm.edu	37	19	863169	863169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:863169delC	ENST00000327726.6	+	5	930	c.693delC	c.(691-693)aacfs	p.N231fs	CFD_ENST00000592860.1_Frame_Shift_Del_p.N238fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	231	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTTGCGGCAACCGCAAGAAGC	0.716																																					p.N231fs		.											.	CFD-514	0			c.693delC						.						14.0	14.0	14.0					19																	863169		2126	4177	6303	SO:0001589	frameshift_variant	1675	exon5			CGGCAACCGCAAG	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"""Complement system"""	2771	protein-coding gene	gene with protein product		134350	"""D component of complement (adipsin)"", ""properdin factor D"""	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.693delC	19.37:g.863169delC	ENSP00000332139:p.Asn231fs	1	0		27	14	NM_001928	0	0	0	0	0	B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Frame_Shift_Del	DEL	ENST00000327726.6	37	CCDS12046.1																																																																																			.		0.716	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928	
GRIN3B	116444	hgsc.bcm.edu	37	19	1004687	1004687	+	Missense_Mutation	SNP	T	T	C	rs12978900	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1004687T>C	ENST00000234389.3	+	3	1206	c.1187T>C	c.(1186-1188)tTg>tCg	p.L396S	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	396					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTGGACTTGGAACCGGGA	0.682													t|||	166	0.033147	0.0015	0.0173	5008	,	,		10955	0.0784		0.0338	False		,,,				2504	0.0399				p.L396S		.											.	GRIN3B-90	0			c.T1187C						.	T	SER/LEU	38,4326		0,38,2144	16.0	16.0	16.0		1187	-0.1	0.0	19	dbSNP_121	16	239,8321		2,235,4043	no	missense	GRIN3B	NM_138690.1	145	2,273,6187	CC,CT,TT		2.7921,0.8708,2.1433	benign	396/1044	1004687	277,12647	2182	4280	6462	SO:0001583	missense	116444	exon3			TGGACTTGGAACC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1187T>C	19.37:g.1004687T>C	ENSP00000234389:p.Leu396Ser	1	0		15	5	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	70	0.03205128205128205	1	0.0020325203252032522	4	0.011049723756906077	39	0.06818181818181818	26	0.03430079155672823	T	2.347	-0.349767	0.05173	0.008708	0.027921	ENSG00000116032	ENST00000234389	T	0.12465	2.68	4.41	-0.073	0.13737	.	49.635500	0.01261	U	0.009180	T	0.00496	0.0016	N	0.02539	-0.55	0.09310	N	0.99999	B	0.18741	0.03	B	0.12837	0.008	T	0.32107	-0.9919	10	0.42905	T	0.14	.	8.5979	0.33727	0.0:0.271:0.0:0.729	rs12978900	396	O60391	NMD3B_HUMAN	S	396	ENSP00000234389:L396S	ENSP00000234389:L396S	L	+	2	0	GRIN3B	955687	0.231000	0.23751	0.001000	0.08648	0.017000	0.09413	0.570000	0.23653	-0.027000	0.13873	0.386000	0.25728	TTG	T|0.967;C|0.033		0.682	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1043419	1043419	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1043419G>A	ENST00000263094.6	+	9	1108	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	ABCA7_ENST00000433129.1_Missense_Mutation_p.G293R|ABCA7_ENST00000435683.2_Missense_Mutation_p.G155R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	293					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TCTGATCCTCGGGAAGCTACT	0.662																																					p.G293R		.											.	ABCA7-98	0			c.G877A						.						70.0	80.0	77.0					19																	1043419		2203	4300	6503	SO:0001583	missense	10347	exon9			ATCCTCGGGAAGC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.877G>A	19.37:g.1043419G>A	ENSP00000263094:p.Gly293Arg	148	0		330	65	NM_019112	0	0	2	2	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762581	0.69763	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88046	-2.33;-2.33	4.25	4.25	0.50352	.	.	.	.	.	D	0.93086	0.7799	M	0.81112	2.525	0.44181	D	0.996993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94080	0.7343	9	0.87932	D	0	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	155;293	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	R	293	ENSP00000263094:G293R;ENSP00000414062:G293R	ENSP00000263094:G293R	G	+	1	0	ABCA7	994419	1.000000	0.71417	0.870000	0.34147	0.429000	0.31625	9.057000	0.93889	1.937000	0.56155	0.313000	0.20887	GGG	.		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
C19orf24	55009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1277286	1277286	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1277286G>A	ENST00000409293.4	+	2	909	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	C19orf24_ENST00000469144.1_5'UTR|C19orf24_ENST00000590269.1_3'UTR	NM_017914.3	NP_060384.3	Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	129						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		TTTGAGTCCCGGAATCTGAGA	0.647																																					p.R129Q		.											.	C19orf24-90	0			c.G386A						.						63.0	62.0	62.0					19																	1277286		692	1591	2283	SO:0001583	missense	55009	exon2			AGTCCCGGAATCT	BC000890	CCDS12060.2	19p13.3	2012-10-24			ENSG00000228300	ENSG00000228300			26073	protein-coding gene	gene with protein product						16847563	Standard	NM_017914		Approved	FLJ20640	uc002lrw.4	Q9BVV8	OTTHUMG00000153928	ENST00000409293.4:c.386G>A	19.37:g.1277286G>A	ENSP00000386557:p.Arg129Gln	121	0		304	122	NM_017914	0	0	0	0	0	Q9NWS2	Missense_Mutation	SNP	ENST00000409293.4	37	CCDS12060.2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904728	0.33628	.	.	ENSG00000228300	ENST00000409293	T	0.42131	0.98	4.38	4.38	0.52667	.	.	.	.	.	T	0.53061	0.1773	L	0.37630	1.12	0.36084	D	0.842987	D	0.89917	1.0	D	0.91635	0.999	T	0.61043	-0.7142	8	0.42905	T	0.14	-30.005	13.6497	0.62304	0.0:0.0:1.0:0.0	.	129	Q9BVV8	CS024_HUMAN	Q	129	ENSP00000386557:R129Q	ENSP00000386557:R129Q	R	+	2	0	C19orf24	1228286	0.558000	0.26554	0.119000	0.21687	0.050000	0.14768	1.056000	0.30480	1.984000	0.57885	0.491000	0.48974	CGG	.		0.647	C19orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333049.2	NM_017914	
REEP6	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1496349	1496349	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1496349C>T	ENST00000233596.3	+	4	518	c.414C>T	c.(412-414)cgC>cgT	p.R138R		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	138					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		TGTATCAGCGCGTCGTGCGTC	0.657																																					p.R138R		.											.	REEP6-90	0			c.C414T						.						79.0	71.0	74.0					19																	1496349		2203	4298	6501	SO:0001819	synonymous_variant	92840	exon4			TCAGCGCGTCGTG	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.414C>T	19.37:g.1496349C>T		26	0		160	33	NM_138393	1	0	143	181	37	B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187900	0.57909	.	.	ENSG00000115255	ENST00000395484	.	.	.	4.97	-2.05	0.07321	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43130	-0.9410	5	0.72032	D	0.01	-1.5493	4.0622	0.09844	0.2331:0.3466:0.3401:0.0801	.	.	.	.	C	206	.	ENSP00000378865:R206C	R	+	1	0	REEP6	1447349	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-2.057000	0.01395	0.111000	0.17947	0.552000	0.68991	CGT	.		0.657	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393	
FZR1	51343	hgsc.bcm.edu	37	19	3532525	3532525	+	Frame_Shift_Del	DEL	G	G	-	rs377303644		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:3532525delG	ENST00000395095.3	+	10	1119	c.1119delG	c.(1117-1119)tcgfs	p.S373fs	FZR1_ENST00000313639.8_Frame_Shift_Del_p.S284fs|FZR1_ENST00000441788.2_Frame_Shift_Del_p.S373fs	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	373					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCCTCGGGGGGCGGCA	0.647																																					p.S373fs		.											.	FZR1-227	0			c.1119delG						.						34.0	35.0	34.0					19																	3532525		2201	4299	6500	SO:0001589	frameshift_variant	51343	exon10			GGCCTCGGGGGGC	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1119delG	19.37:g.3532525delG	ENSP00000378529:p.Ser373fs	28	1		259	125	NM_001136198	0	0	0	0	0	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Frame_Shift_Del	DEL	ENST00000395095.3	37	CCDS45916.1																																																																																			.		0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263	
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	5206812	5206812	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:5206812G>A	ENST00000587303.1	-	37	5919	c.5820C>T	c.(5818-5820)ctC>ctT	p.L1940L	PTPRS_ENST00000588012.1_Silent_p.L1902L|PTPRS_ENST00000592099.1_Silent_p.L1493L|PTPRS_ENST00000372412.4_Silent_p.L1941L|PTPRS_ENST00000348075.2_Silent_p.L1902L|PTPRS_ENST00000353284.2_Silent_p.L1493L|PTPRS_ENST00000357368.4_Silent_p.L1940L|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Silent_p.L1920L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1940					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CAAAGCTTCCGAGGTACTCCA	0.632																																					p.L1940L		.											.	PTPRS-357	0			c.C5820T						.						151.0	128.0	136.0					19																	5206812		2203	4300	6503	SO:0001819	synonymous_variant	5802	exon38			GCTTCCGAGGTAC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5820C>T	19.37:g.5206812G>A		114	0		221	51	NM_002850	0	0	77	103	26	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																			.		0.632	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
VAV1	7409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	6833562	6833562	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:6833562G>A	ENST00000602142.1	+	17	1716	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	VAV1_ENST00000599806.1_Missense_Mutation_p.R490H|VAV1_ENST00000596764.1_Missense_Mutation_p.R513H|VAV1_ENST00000539284.1_Missense_Mutation_p.R448H|VAV1_ENST00000304076.2_Missense_Mutation_p.R545H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	545					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGGCTACCGCTGCCATCGG	0.552																																					p.R545H		.											.	VAV1-1276	0			c.G1634A						.						109.0	107.0	107.0					19																	6833562		2203	4300	6503	SO:0001583	missense	7409	exon17			GCTACCGCTGCCA		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1634G>A	19.37:g.6833562G>A	ENSP00000472929:p.Arg545His	52	0		63	27	NM_005428	0	0	0	0	0	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737263	0.49045	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.93189	-3.18;-3.18	4.73	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.130678	0.49916	D	0.000123	D	0.94918	0.8357	M	0.68593	2.085	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.982;0.998	P;P;P;P	0.60949	0.853;0.881;0.596;0.878	D	0.93280	0.6659	10	0.20519	T	0.43	.	15.188	0.73020	0.0:0.0:1.0:0.0	.	448;545;490;545	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	545;448	ENSP00000302269:R545H;ENSP00000443242:R448H	ENSP00000302269:R545H	R	+	2	0	VAV1	6784562	1.000000	0.71417	0.987000	0.45799	0.619000	0.37552	3.019000	0.49635	2.199000	0.70637	0.491000	0.48974	CGC	.		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
INSR	3643	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	7267587	7267587	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:7267587G>A	ENST00000302850.5	-	2	563	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	INSR_ENST00000341500.5_Missense_Mutation_p.R141W	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	141	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACAGAACCCCGGGTGATGTTC	0.512																																					p.R141W		.											.	INSR-1381	0			c.C421T						.						99.0	88.0	91.0					19																	7267587		2203	4300	6503	SO:0001583	missense	3643	exon2			AACCCCGGGTGAT	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.421C>T	19.37:g.7267587G>A	ENSP00000303830:p.Arg141Trp	323	3		466	122	NM_000208	0	0	0	1	1	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371712	0.61624	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.80566	-1.39;-1.39	5.07	5.07	0.68467	EGF receptor, L domain (1);	0.000000	0.42172	U	0.000754	D	0.91620	0.7352	H	0.94734	3.575	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	0.93070	0.6482	10	0.87932	D	0	.	11.116	0.48259	0.0:0.0:0.8155:0.1845	.	132;141;141	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	W	141	ENSP00000303830:R141W;ENSP00000342838:R141W	ENSP00000303830:R141W	R	-	1	2	INSR	7218587	0.996000	0.38824	1.000000	0.80357	0.794000	0.44872	2.098000	0.41757	2.349000	0.79799	0.544000	0.68410	CGG	.		0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
CAMSAP3	57662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	7682925	7682925	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:7682925C>T	ENST00000160298.4	+	17	3833	c.3732C>T	c.(3730-3732)ggC>ggT	p.G1244G	CAMSAP3_ENST00000446248.2_Silent_p.G1271G	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1244					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAAGAAGGGCGGCGGCACCC	0.662																																					p.G1271G		.											.	.	0			c.C3813T						.						40.0	45.0	43.0					19																	7682925		1927	4120	6047	SO:0001819	synonymous_variant	57662	exon19			GAAGGGCGGCGGC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3732C>T	19.37:g.7682925C>T		31	0		80	9	NM_001080429	0	0	112	120	8	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																			.		0.662	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362	
CD320	51293	hgsc.bcm.edu	37	19	8369919	8369921	+	In_Frame_Del	DEL	CTC	CTC	-	rs546081310|rs532709437|rs150384171	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8369919_8369921delCTC	ENST00000301458.5	-	2	326_328	c.262_264delGAG	c.(262-264)gagdel	p.E88del	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	88	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.		Missing (in MMATC). {ECO:0000269|PubMed:20524213}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTCACTGCACTCCTCCTCATCG	0.67														35	0.00698882	0.0008	0.0115	5008	,	,		16965	0.0139		0.0089	False		,,,				2504	0.0031				p.88_88del		.											.	CD320-90	0			c.262_264del						.		,	21,4243		3,15,2114					,	4.9	1.0		dbSNP_134	43	114,8140		8,98,4021	no	coding,intron	CD320	NM_016579.3,NM_001165895.1	,	11,113,6135	A1A1,A1R,RR		1.3811,0.4925,1.0784	,	,		135,12383				SO:0001651	inframe_deletion	51293	exon2			ACTGCACTCCTCC	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.262_264delGAG	19.37:g.8369925_8369927delCTC	ENSP00000301458:p.Glu88del	2	1		50	21	NM_016579	0	0	0	0	0	B2RDS5|D6W668|F5H6D3|Q53HF7	In_Frame_Del	DEL	ENST00000301458.5	37	CCDS12198.1																																																																																			.		0.670	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	
CD320	51293	hgsc.bcm.edu	37	19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	rs2232775	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000537716.2_Missense_Mutation_p.Q8R|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6.0	7.0	7.0		23,23	1.9	0.0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	0	0		10	10	NM_001165895	0	0	1	24	23	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	
ZNF414	84330	hgsc.bcm.edu	37	19	8576670	8576670	+	Silent	SNP	C	C	T	rs7175	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4.0	6.0	5.0		705,705	-2.0	0.0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		0	0		13	9	NM_032370	0	0	1	8	7	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370	
ACTL9	284382	hgsc.bcm.edu	37	19	8807994	8807994	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8807994C>T	ENST00000324436.3	-	1	1178	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	353						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCCCGGAAGCGACCCTCGAA	0.642																																					p.R353H		.											.	ACTL9-154	0			c.G1058A						.						22.0	25.0	24.0					19																	8807994		2197	4292	6489	SO:0001583	missense	284382	exon1			CGGAAGCGACCCT		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1058G>A	19.37:g.8807994C>T	ENSP00000316674:p.Arg353His	5	0		97	28	NM_178525	0	0	0	0	0	A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.076577	0.55753	.	.	ENSG00000181786	ENST00000324436	D	0.99353	-5.77	4.58	3.54	0.40534	.	0.159359	0.26734	N	0.022770	D	0.98795	0.9594	H	0.94771	3.58	0.41378	D	0.987531	P	0.37997	0.614	B	0.34346	0.18	D	0.99620	1.0983	10	0.87932	D	0	.	11.7818	0.52020	0.0:0.9128:0.0:0.0872	.	353	Q8TC94	ACTL9_HUMAN	H	353	ENSP00000316674:R353H	ENSP00000316674:R353H	R	-	2	0	ACTL9	8668994	1.000000	0.71417	0.769000	0.31535	0.034000	0.12701	2.904000	0.48719	1.287000	0.44583	0.457000	0.33378	CGC	.		0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9049154	9049154	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:9049154G>A	ENST00000397910.4	-	5	32680	c.32477C>T	c.(32476-32478)aCg>aTg	p.T10826M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10828	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)				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						TGCAGGATGCGTGACCAATGA	0.488																																					p.T10826M		.											.	MUC16-566	0			c.C32477T						.						179.0	161.0	167.0					19																	9049154		1964	4157	6121	SO:0001583	missense	94025	exon5			GGATGCGTGACCA	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.32477C>T	19.37:g.9049154G>A	ENSP00000381008:p.Thr10826Met	280	0		418	94	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.579	0.107483	0.08780	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	3.2	1.03	0.20045	.	.	.	.	.	T	0.03608	0.0103	L	0.32530	0.975	.	.	.	D	0.61080	0.989	P	0.48454	0.578	T	0.39761	-0.9598	8	0.87932	D	0	.	5.6855	0.17801	0.2569:0.0:0.7431:0.0	.	10826	B5ME49	.	M	10826	ENSP00000381008:T10826M	ENSP00000381008:T10826M	T	-	2	0	MUC16	8910154	0.039000	0.19947	0.002000	0.10522	0.007000	0.05969	1.607000	0.36836	0.386000	0.24997	-0.383000	0.06682	ACG	.		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
COL5A3	50509	hgsc.bcm.edu	37	19	10077378	10077378	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10077378G>A	ENST00000264828.3	-	63	4588	c.4503C>T	c.(4501-4503)ttC>ttT	p.F1501F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1501					axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGACTGGGACGAAGCGCCGGC	0.706																																					p.F1501F		.											.	COL5A3-99	0			c.C4503T						.						4.0	4.0	4.0					19																	10077378		1975	3949	5924	SO:0001819	synonymous_variant	50509	exon63			TGGGACGAAGCGC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4503C>T	19.37:g.10077378G>A		2	0		21	4	NM_015719	0	0	1	1	0	Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																			.		0.706	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
P2RY11	5032	broad.mit.edu	37	19	10227826	10227826	+	IGR	DEL	G	G	-	rs141171264	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10227826delG	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Frame_Shift_Del_p.P113fs|EIF3G_ENST00000587168.1_5'Flank	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CATTGGGTCCGGGGGGGTCAA	0.602																																					p.P113fs		.											.	EIF3G-68	0			c.339delC						.						44.0	40.0	42.0					19																	10227826		2203	4300	6503	SO:0001628	intergenic_variant	8666	exon6			GGGTCCGGGGGGG	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10227826delG		79	0		159	10	NM_003755	0	0	0	0	0	B2R8X9|O43190|Q9BYU4|Q9H170	Frame_Shift_Del	DEL	ENST00000321826.4	37	CCDS12226.1																																																																																			.		0.602	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566	
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10476463	10476463	+	Silent	SNP	C	C	T	rs377117351		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10476463C>T	ENST00000525621.1	-	7	1222	c.741G>A	c.(739-741)ccG>ccA	p.P247P	TYK2_ENST00000264818.6_Silent_p.P247P|TYK2_ENST00000529370.1_Silent_p.P247P|TYK2_ENST00000524462.1_Silent_p.P62P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGTCGGCCCGGCTGGAAGT	0.672																																					p.P247P		.											.	TYK2-1009	0			c.G741A						.	C		1,4377		0,1,2188	15.0	14.0	14.0		741	-9.3	0.0	19		14	0,8532		0,0,4266	no	coding-synonymous	TYK2	NM_003331.4		0,1,6454	TT,TC,CC		0.0,0.0228,0.0077		247/1188	10476463	1,12909	2189	4266	6455	SO:0001819	synonymous_variant	7297	exon7			TCGGCCCGGCTGG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.741G>A	19.37:g.10476463C>T		36	0		262	146	NM_003331	0	0	10	16	6	Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.490982	0.04322	2.28E-4	0.0	ENSG00000105397	ENST00000525220	.	.	.	4.66	-9.32	0.00643	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.43994	D	0.996692	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-32.3278	1.2343	0.01949	0.2605:0.1238:0.3382:0.2776	.	.	.	.	Q	26	.	.	R	-	2	0	TYK2	10337463	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-8.468000	0.00020	-2.360000	0.00610	-0.254000	0.11334	CGG	.		0.672	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
FBXW9	84261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12805414	12805414	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:12805414G>A	ENST00000380339.3	-	3	708	c.672C>T	c.(670-672)acC>acT	p.T224T	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Silent_p.T214T|FBXW9_ENST00000393261.3_Silent_p.T224T			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	224					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCACCTCATGGGTACTATTTC	0.542																																					p.T224T		.											.	FBXW9-227	0			c.C672T						.						56.0	64.0	62.0					19																	12805414		2100	4223	6323	SO:0001819	synonymous_variant	84261	exon3			CTCATGGGTACTA	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.672C>T	19.37:g.12805414G>A		143	0		254	126	NM_032301	0	0	0	0	0	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37																																																																																				.		0.542	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301	
TNPO2	30000	broad.mit.edu;bcgsc.ca	37	19	12816346	12816346	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:12816346C>T	ENST00000592287.1	-	16	1931	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	TNPO2_ENST00000441499.1_Missense_Mutation_p.R608H|TNPO2_ENST00000425528.1_Missense_Mutation_p.R608H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R608H|TNPO2_ENST00000450764.2_Missense_Mutation_p.R608H|TNPO2_ENST00000356861.5_Missense_Mutation_p.R608H|SNORD41_ENST00000386967.1_RNA	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	608				R -> C (in Ref. 2; AAB71349). {ECO:0000305}.	intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGACACAGCGCTGGTAGAC	0.632																																					p.R608H		.											.	TNPO2-227	0			c.G1823A						.						25.0	29.0	27.0					19																	12816346		2115	4214	6329	SO:0001583	missense	30000	exon16			ACACAGCGCTGGT	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1823G>A	19.37:g.12816346C>T	ENSP00000468434:p.Arg608His	283	1		532	12	NM_013433	0	0	23	25	2	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918518	0.52546	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.82923	2.615	0.80722	D	1	P;B	0.47302	0.893;0.411	B;B	0.35813	0.211;0.024	T	0.57219	-0.7849	10	0.59425	D	0.04	-17.4574	17.8663	0.88796	0.0:1.0:0.0:0.0	.	772;608	Q4LE60;O14787	.;TNPO2_HUMAN	H	772;608;608;608;608;608;608	ENSP00000407182:R608H;ENSP00000389648:R608H;ENSP00000397379:R608H;ENSP00000349321:R608H	ENSP00000349321:R608H	R	-	2	0	TNPO2	12677346	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.434000	0.80377	2.520000	0.84964	0.467000	0.42956	CGC	.		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13356010	13356010	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:13356010C>T	ENST00000360228.5	-	31	4935	c.4936G>A	c.(4936-4938)Gtg>Atg	p.V1646M	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1647M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1647					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTCAGTCACGAGGATATCG	0.582																																					p.V1647M		.											.	CACNA1A-67	0			c.G4939A						.						96.0	99.0	98.0					19																	13356010		2013	4164	6177	SO:0001583	missense	773	exon31			CAGTCACGAGGAT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4936G>A	19.37:g.13356010C>T	ENSP00000353362:p.Val1646Met	111	0		176	83	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476763	0.44044	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98550	-4.99	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000008	D	0.98466	0.9489	L	0.52905	1.665	0.58432	D	0.999999	D;P;D;D	0.89917	0.995;0.896;1.0;0.988	P;P;D;P	0.91635	0.871;0.454;0.999;0.871	D	0.99886	1.1123	10	0.87932	D	0	.	16.3534	0.83225	0.0:1.0:0.0:0.0	.	1647;1650;1646;1647	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1646;1650;1647;1647;263	ENSP00000353362:V1646M	ENSP00000317661:V1647M	V	-	1	0	CACNA1A	13217010	0.961000	0.32948	0.735000	0.30896	0.975000	0.68041	2.246000	0.43142	2.140000	0.66376	0.462000	0.41574	GTG	.		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13370425	13370425	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:13370425C>A	ENST00000360228.5	-	27	4340	c.4341G>T	c.(4339-4341)tgG>tgT	p.W1447C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W1448C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1448					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCAGAGCCCACAGCACAT	0.562																																					p.W1448C		.											.	CACNA1A-67	0			c.G4344T						.						56.0	59.0	58.0					19																	13370425		1989	4153	6142	SO:0001583	missense	773	exon27			CAGAGCCCACAGC	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4341G>T	19.37:g.13370425C>A	ENSP00000353362:p.Trp1447Cys	175	0		221	115	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173320	0.57584	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98617	-5.03	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.987;0.999	D	0.99414	1.0931	10	0.87932	D	0	.	16.8346	0.85954	0.0:1.0:0.0:0.0	.	1448;1451;1447	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	1447;1451;1448;1448;64	ENSP00000353362:W1447C	ENSP00000317661:W1448C	W	-	3	0	CACNA1A	13231425	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.818000	0.86416	2.265000	0.75225	0.561000	0.74099	TGG	.		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	15276714	15276714	+	Missense_Mutation	SNP	G	G	A	rs376590511		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15276714G>A	ENST00000263388.2	-	30	5626	c.5551C>T	c.(5551-5553)Cgt>Tgt	p.R1851C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCATCAGCACGGGCATAACGG	0.637																																					p.R1851C		.											.	NOTCH3-855	0			c.C5551T						.	G	CYS/ARG	0,4406		0,0,2203	60.0	47.0	52.0		5551	1.9	1.0	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1851/2322	15276714	1,13005	2203	4300	6503	SO:0001583	missense	4854	exon30			CAGCACGGGCATA	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5551C>T	19.37:g.15276714G>A	ENSP00000263388:p.Arg1851Cys	68	0		239	32	NM_000435	0	0	2	2	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879731	0.72294	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.65732	-0.17	5.36	1.93	0.25924	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.69287	0.3094	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70737	-0.4790	10	0.87932	D	0	.	13.745	0.62870	0.0:0.0:0.4797:0.5203	.	1851	Q9UM47	NOTC3_HUMAN	C	1851	ENSP00000263388:R1851C	ENSP00000263388:R1851C	R	-	1	0	NOTCH3	15137714	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	3.193000	0.50997	0.347000	0.23924	0.655000	0.94253	CGT	.		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
NOTCH3	4854	ucsc.edu	37	19	15292437	15292437	+	Silent	SNP	T	T	C	rs1043997	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15292437T>C	ENST00000263388.2	-	17	2817	c.2742A>G	c.(2740-2742)ccA>ccG	p.P914P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	914	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCCGTAGCCTGGCGGGCAGG	0.697													C|||	3701	0.739018	0.5582	0.7104	5008	,	,		16714	0.8284		0.841	False		,,,				2504	0.8067				p.P914P		.											.	NOTCH3-855	0			c.A2742G						.	C		2660,1520		893,874,323	13.0	10.0	11.0		2742	-10.9	0.0	19	dbSNP_86	11	7044,1052		3078,888,82	no	coding-synonymous	NOTCH3	NM_000435.2		3971,1762,405	CC,CT,TT		12.9941,36.3636,20.9514		914/2322	15292437	9704,2572	2090	4048	6138	SO:0001819	synonymous_variant	4854	exon17			GTAGCCTGGCGGG	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2742A>G	19.37:g.15292437T>C		18	4		419	174	NM_000435	0	0	1	1	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			T|0.238;C|0.762		0.697	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
OR10H1	26539	bcgsc.ca	37	19	15918802	15918802	+	Missense_Mutation	SNP	C	C	G	rs4808383	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15918802C>G	ENST00000334920.2	-	1	134	c.46G>C	c.(46-48)Ggc>Cgc	p.G16R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	16			G -> R (in dbSNP:rs4808383).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACAGAGAAGCCGACGAGGATG	0.557													.|||	766	0.152955	0.1331	0.1124	5008	,	,		20065	0.12		0.1779	False		,,,				2504	0.2168				p.G16R		.											.	OR10H1-68	0			c.G46C						.	C	ARG/GLY	612,3794	266.2+/-267.1	52,508,1643	153.0	145.0	148.0		46	2.3	0.3	19	dbSNP_111	148	1695,6905	311.7+/-310.5	175,1345,2780	yes	missense	OR10H1	NM_013940.2	125	227,1853,4423	GG,GC,CC		19.7093,13.8901,17.738	probably-damaging	16/319	15918802	2307,10699	2203	4300	6503	SO:0001583	missense	26539	exon1			AGAAGCCGACGAG	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.46G>C	19.37:g.15918802C>G	ENSP00000335596:p.Gly16Arg	177	1		322	8	NM_013940	0	0	0	0	0	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	318	0.14560439560439561	66	0.13414634146341464	36	0.09944751381215469	77	0.1346153846153846	139	0.18337730870712401	c	13.00	2.105991	0.37145	0.138901	0.197093	ENSG00000186723	ENST00000334920	T	0.00659	5.94	4.47	2.28	0.28536	.	0.000000	0.50627	D	0.000103	T	0.00012	0.0000	M	0.93939	3.475	0.30892	P	0.730259	D	0.89917	1.0	D	0.70716	0.97	T	0.15150	-1.0447	9	0.72032	D	0.01	.	6.9577	0.24580	0.1726:0.7323:0.0:0.0952	rs4808383;rs52830115;rs4808383	16	Q9Y4A9	O10H1_HUMAN	R	16	ENSP00000335596:G16R	ENSP00000335596:G16R	G	-	1	0	OR10H1	15779802	0.285000	0.24296	0.320000	0.25306	0.003000	0.03518	1.939000	0.40213	0.323000	0.23307	0.643000	0.83706	GGC	C|0.832;G|0.168		0.557	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
C19orf44	84167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	16611814	16611814	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:16611814G>A	ENST00000221671.3	+	2	367	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	C19orf44_ENST00000594035.1_Missense_Mutation_p.G71R|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	71										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCTGTGCTCGGGAGTGGACC	0.507																																					p.G71R		.											.	C19orf44-90	0			c.G211A						.						116.0	130.0	125.0					19																	16611814		2203	4300	6503	SO:0001583	missense	84167	exon2			GTGCTCGGGAGTG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.211G>A	19.37:g.16611814G>A	ENSP00000221671:p.Gly71Arg	77	0		109	59	NM_032207	0	0	0	0	0	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776293	0.49786	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.78	2.55	0.30701	.	0.550372	0.16965	N	0.192331	T	0.35278	0.0926	L	0.56769	1.78	0.09310	N	1	P;D	0.61080	0.941;0.989	B;P	0.47528	0.288;0.549	T	0.13415	-1.0510	9	0.29301	T	0.29	-18.4854	6.5443	0.22397	0.0981:0.1816:0.7203:0.0	.	71;71	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	R	71	.	ENSP00000221671:G71R	G	+	1	0	C19orf44	16472814	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.281000	0.18810	0.575000	0.29434	0.655000	0.94253	GGG	.		0.507	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
SIN3B	23309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	16986968	16986968	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:16986968G>A	ENST00000248054.5	+	15	2716	c.2695G>A	c.(2695-2697)Gtc>Atc	p.V899I	SIN3B_ENST00000595541.1_Missense_Mutation_p.V489I|SIN3B_ENST00000379803.1_Missense_Mutation_p.V931I					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCGCTGCGTCCGCGCTGC	0.642																																					p.V931I		.											.	SIN3B-228	0			c.G2791A						.						39.0	33.0	35.0					19																	16986968		2201	4300	6501	SO:0001583	missense	23309	exon16			CGCTGCGTCCGCG	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2695G>A	19.37:g.16986968G>A	ENSP00000248054:p.Val899Ile	55	0		265	137	NM_015260	0	0	21	45	24		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298762	0.60195	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.44083	0.93;0.93	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.51422	1.61	0.43412	D	0.995554	D;P;D	0.76494	0.999;0.939;0.989	D;P;P	0.75020	0.985;0.474;0.707	T	0.56123	-0.8031	10	0.33940	T	0.23	-43.7358	17.0525	0.86523	0.0:0.0:1.0:0.0	.	489;899;931	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	I	931;899	ENSP00000369131:V931I;ENSP00000248054:V899I	ENSP00000248054:V899I	V	+	1	0	SIN3B	16847968	1.000000	0.71417	0.881000	0.34555	0.778000	0.44026	5.280000	0.65603	2.022000	0.59522	0.561000	0.74099	GTC	.		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
MYO9B	4650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17283599	17283599	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17283599G>A	ENST00000594824.1	+	13	2114	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.R656Q			Q13459	MYO9B_HUMAN	myosin IXB	656	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACTACATGCGGCCAGACATC	0.667																																					p.R656Q		.											.	MYO9B-67	0			c.G1967A						.						68.0	77.0	74.0					19																	17283599		2114	4224	6338	SO:0001583	missense	4650	exon13			ACATGCGGCCAGA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1967G>A	19.37:g.17283599G>A	ENSP00000471367:p.Arg656Gln	56	0		144	29	NM_001130065	0	0	3	3	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.422492	0.96111	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.50627	D	0.000115	D	0.91317	0.7262	L	0.52364	1.645	0.46396	D	0.99902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92021	0.5626	10	0.59425	D	0.04	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	656;656;662	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	656	ENSP00000380444:R656Q	ENSP00000380444:R656Q	R	+	2	0	MYO9B	17144599	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.700000	0.98707	2.218000	0.71995	0.655000	0.94253	CGG	.		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
ANO8	57719	hgsc.bcm.edu	37	19	17435647	17435647	+	Silent	SNP	G	G	A	rs150818557	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17435647G>A	ENST00000159087.4	-	17	3368	c.3210C>T	c.(3208-3210)ggC>ggT	p.G1070G		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGCCTGCCCGCCCGCCCCGT	0.711													G|||	5	0.000998403	0.0008	0.0029	5008	,	,		12379	0.0		0.002	False		,,,				2504	0.0				p.G1070G		.											.	ANO8-93	0			c.C3210T						.	G		0,4400		0,0,2200	25.0	33.0	30.0		3210	-0.5	0.2	19	dbSNP_134	30	24,8552		1,22,4265	no	coding-synonymous	ANO8	NM_020959.2		1,22,6465	AA,AG,GG		0.2799,0.0,0.185		1070/1233	17435647	24,12952	2200	4288	6488	SO:0001819	synonymous_variant	57719	exon17			CTGCCCGCCCGCC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3210C>T	19.37:g.17435647G>A		0	0		58	35	NM_020959	0	0	17	28	11	A6NIJ0	Silent	SNP	ENST00000159087.4	37	CCDS32949.1																																																																																			G|0.998;A|0.002		0.711	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644	
ANO8	57719	broad.mit.edu;bcgsc.ca	37	19	17441307	17441307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17441307G>A	ENST00000159087.4	-	9	1158	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	334					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTGATACGTCGCACGCCCTGA	0.642																																					p.R334X		.											.	ANO8-93	0			c.C1000T						.						22.0	22.0	22.0					19																	17441307		2181	4278	6459	SO:0001587	stop_gained	57719	exon9			TACGTCGCACGCC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1000C>T	19.37:g.17441307G>A	ENSP00000159087:p.Arg334*	49	0		186	9	NM_020959	0	0	3	3	0	A6NIJ0	Nonsense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	37	6.514452	0.97629	.	.	ENSG00000074855	ENST00000159087	.	.	.	4.99	2.61	0.31194	.	0.453718	0.21113	N	0.079947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	10.1469	0.42769	0.0:0.0:0.5006:0.4994	.	.	.	.	X	334	.	ENSP00000159087:R334X	R	-	1	2	ANO8	17302307	1.000000	0.71417	0.165000	0.22776	0.060000	0.15804	4.211000	0.58507	1.023000	0.39654	0.491000	0.48974	CGA	.		0.642	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644	
COLGALT1	79709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17679361	17679361	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17679361G>A	ENST00000252599.4	+	5	788	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	223					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ATCCGCAAGCGAGACCGCCGG	0.617																																					p.R223Q		.											.	.	0			c.G668A						.						124.0	98.0	107.0					19																	17679361		2203	4300	6503	SO:0001583	missense	79709	exon5			GCAAGCGAGACCG	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.668G>A	19.37:g.17679361G>A	ENSP00000252599:p.Arg223Gln	144	0		240	50	NM_024656	0	0	0	1	1	Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065640	0.55539	.	.	ENSG00000130309	ENST00000252599	T	0.24538	1.85	5.05	5.05	0.67936	.	0.285571	0.34178	N	0.004186	T	0.24967	0.0606	L	0.43646	1.37	0.51233	D	0.99991	B	0.21071	0.051	B	0.19391	0.025	T	0.02736	-1.1117	10	0.37606	T	0.19	-22.0093	15.8686	0.79091	0.0:0.0:1.0:0.0	.	223	Q8NBJ5	GT251_HUMAN	Q	223	ENSP00000252599:R223Q	ENSP00000252599:R223Q	R	+	2	0	GLT25D1	17540361	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.934000	0.70138	2.356000	0.79943	0.491000	0.48974	CGA	.		0.617	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656	
PIK3R2	5296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	18279340	18279340	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18279340A>G	ENST00000593731.1	+	14	2352	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	PIK3R2_ENST00000222254.8_Missense_Mutation_p.K598E			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	598					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	gctggggattaaaaatgagac	0.567											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K598E		.											.	PIK3R2-1311	0			c.A1792G						.						34.0	36.0	35.0					19																	18279340		2203	4300	6503	SO:0001583	missense	5296	exon14			GGGATTAAAAATG		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1792A>G	19.37:g.18279340A>G	ENSP00000471914:p.Lys598Glu	55	0	724	62	31	NM_005027	0	1	27	48	20	Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857585	0.32791	.	.	ENSG00000105647	ENST00000222254	T	0.45276	0.9	3.5	3.5	0.40072	.	0.121667	0.53938	D	0.000047	T	0.27169	0.0666	L	0.34521	1.04	0.54753	D	0.999986	B	0.20052	0.041	B	0.09377	0.004	T	0.05733	-1.0867	10	0.10636	T	0.68	-15.1768	10.4528	0.44533	1.0:0.0:0.0:0.0	.	598	O00459	P85B_HUMAN	E	598	ENSP00000222254:K598E	ENSP00000222254:K598E	K	+	1	0	PIK3R2	18140340	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	5.878000	0.69682	1.558000	0.49541	0.260000	0.18958	AAA	.		0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
ISYNA1	51477	broad.mit.edu	37	19	18546481	18546481	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18546481G>A	ENST00000338128.8	-	9	1363	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	ISYNA1_ENST00000457269.4_Silent_p.V328V|ISYNA1_ENST00000578963.1_Silent_p.V254V|ISYNA1_ENST00000545187.1_Silent_p.V232V|ISYNA1_ENST00000317018.6_Silent_p.V180V	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	382					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CATACTTGATGACCACCTGGA	0.667																																					p.V382V		.											.	ISYNA1-92	0			c.C1146T						.						56.0	44.0	48.0					19																	18546481		2201	4299	6500	SO:0001819	synonymous_variant	51477	exon9			CTTGATGACCACC		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1146C>T	19.37:g.18546481G>A		41	0		73	3	NM_016368	0	0	12	12	0	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			.		0.667	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368	
FKBP8	23770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	18650417	18650417	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18650417G>A	ENST00000596558.2	-	3	515	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	FKBP8_ENST00000597960.3_Missense_Mutation_p.R136W|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000608443.1_Missense_Mutation_p.R136W|FKBP8_ENST00000453489.2_Missense_Mutation_p.R165W|FKBP8_ENST00000222308.4_Missense_Mutation_p.R136W			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	136	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCCTGCACCCGTGTGCCATTC	0.677																																					p.R136W		.											.	FKBP8-227	0			c.C406T						.						111.0	115.0	114.0					19																	18650417		2203	4300	6503	SO:0001583	missense	23770	exon3			GCACCCGTGTGCC	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.406C>T	19.37:g.18650417G>A	ENSP00000472302:p.Arg136Trp	19	0		173	80	NM_012181	0	0	85	144	59	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		.	.	.	.	.	.	.	.	.	.	G	14.12	2.440096	0.43326	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55234	0.53;0.53	3.5	1.24	0.21308	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.372544	0.24226	N	0.040387	T	0.52208	0.1720	L	0.46819	1.47	0.45427	D	0.998408	D;D;D	0.69078	0.989;0.997;0.995	P;P;P	0.56916	0.809;0.741;0.784	T	0.44544	-0.9321	10	0.37606	T	0.19	-18.632	5.6691	0.17713	0.0:0.2963:0.3467:0.357	.	165;136;136	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	W	136;165	ENSP00000222308:R136W;ENSP00000388891:R165W	ENSP00000222308:R136W	R	-	1	2	FKBP8	18511417	0.008000	0.16893	0.489000	0.27452	0.346000	0.29079	0.911000	0.28584	0.134000	0.18681	-0.314000	0.08810	CGG	.		0.677	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	19360612	19360612	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:19360612C>A	ENST00000252575.6	+	15	3957	c.3858C>A	c.(3856-3858)caC>caA	p.H1286Q	NCAN_ENST00000538881.1_Missense_Mutation_p.H737Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1286					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	accaccaccaccaccaacacc	0.577																																					p.H1286Q		.											.	NCAN-94	0			c.C3858A						.						393.0	300.0	332.0					19																	19360612		2203	4300	6503	SO:0001583	missense	1463	exon15			CCACCACCACCAA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3858C>A	19.37:g.19360612C>A	ENSP00000252575:p.His1286Gln	259	0		365	102	NM_004386	0	0	0	0	0	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329824	0.60743	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84800	-1.73;-1.9	5.28	3.16	0.36331	.	.	.	.	.	T	0.77198	0.4095	N	0.14661	0.345	0.25626	N	0.986351	D	0.54207	0.965	P	0.51016	0.656	T	0.65138	-0.6241	9	0.26408	T	0.33	.	7.2557	0.26175	0.0:0.8042:0.0:0.1958	.	1286	O14594	NCAN_HUMAN	Q	1300;1286;737	ENSP00000252575:H1286Q;ENSP00000442202:H737Q	ENSP00000252575:H1286Q	H	+	3	2	NCAN	19221612	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	1.870000	0.39529	1.237000	0.43756	0.549000	0.68633	CAC	.		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
ZNF429	353088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	21720662	21720662	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:21720662A>C	ENST00000358491.4	+	4	2015	c.1807A>C	c.(1807-1809)Aat>Cat	p.N603H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	603					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAAGCTTTTAATCGGTCCTC	0.373																																					p.N603H		.											.	ZNF429-516	0			c.A1807C						.						56.0	61.0	59.0					19																	21720662		2090	4257	6347	SO:0001583	missense	353088	exon4			GCTTTTAATCGGT	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1807A>C	19.37:g.21720662A>C	ENSP00000351280:p.Asn603His	47	0		49	13	NM_001001415	0	0	1	2	1	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.514	-0.865183	0.02590	.	.	ENSG00000197013	ENST00000358491	T	0.07800	3.16	1.09	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.05012	-0.13	0.09310	N	1	P	0.48162	0.906	P	0.52309	0.695	T	0.28586	-1.0039	9	0.49607	T	0.09	.	4.4961	0.11837	0.338:0.4826:0.1793:0.0	.	603	Q86V71	ZN429_HUMAN	H	603	ENSP00000351280:N603H	ENSP00000351280:N603H	N	+	1	0	ZNF429	21512502	0.003000	0.15002	0.003000	0.11579	0.046000	0.14306	0.389000	0.20751	-0.767000	0.04633	-1.020000	0.02445	AAT	.		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
GPATCH1	55094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	33616095	33616095	+	Missense_Mutation	SNP	G	G	A	rs557686705	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:33616095G>A	ENST00000170564.2	+	18	2920	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	869					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGCACAGGCGGAAGAAAGAG	0.493													G|||	4	0.000798722	0.0	0.0	5008	,	,		16736	0.0		0.0	False		,,,				2504	0.0041				p.R869Q	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.G2606A						.						93.0	80.0	85.0					19																	33616095		2202	4298	6500	SO:0001583	missense	55094	exon18			ACAGGCGGAAGAA	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.2606G>A	19.37:g.33616095G>A	ENSP00000170564:p.Arg869Gln	101	0		183	39	NM_018025	0	0	0	0	0	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654353	0.29425	.	.	ENSG00000076650	ENST00000170564	T	0.11277	2.79	4.32	3.26	0.37387	.	0.543411	0.16655	N	0.205037	T	0.11665	0.0284	L	0.44542	1.39	0.28075	N	0.932429	D;P	0.64830	0.994;0.804	P;B	0.48400	0.576;0.199	T	0.07790	-1.0754	10	0.33141	T	0.24	-11.411	6.5306	0.22324	0.2656:0.0:0.7344:0.0	.	869;869	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	Q	869	ENSP00000170564:R869Q	ENSP00000170564:R869Q	R	+	2	0	GPATCH1	38307935	0.365000	0.25006	0.991000	0.47740	0.318000	0.28184	1.852000	0.39348	2.129000	0.65627	0.585000	0.79938	CGG	.		0.493	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
KMT2B	9757	broad.mit.edu;bcgsc.ca	37	19	36217156	36217156	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36217156G>A	ENST00000222270.7	+	14	3905	c.3905G>A	c.(3904-3906)cGc>cAc	p.R1302H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1302H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1302					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTGTGTGCGCTGTAAGAGC	0.582																																					p.R1302H		.											.	MLL4-697	0			c.G3905A						.						60.0	63.0	62.0					19																	36217156		1968	4184	6152	SO:0001583	missense	8085	exon14			GTGTGCGCTGTAA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3905G>A	19.37:g.36217156G>A	ENSP00000222270:p.Arg1302His	303	1		499	18	NM_014727	0	0	14	14	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836235	0.71373	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	5.38	5.38	0.77491	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42294	D	0.000724	D	0.91593	0.7344	M	0.65498	2.005	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.91232	0.5015	10	0.52906	T	0.07	.	18.0736	0.89421	0.0:0.0:1.0:0.0	.	1302	Q9UMN6	MLL4_HUMAN	H	1302	ENSP00000222270:R1302H;ENSP00000398837:R1302H	ENSP00000222270:R1302H	R	+	2	0	AD000671.1	40908996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.793000	0.96121	0.655000	0.94253	CGC	.		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
KMT2B	9757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36222925	36222925	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36222925G>A	ENST00000222270.7	+	27	5554	c.5554G>A	c.(5554-5556)Gcc>Acc	p.A1852T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.A1852T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1852					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCAGGCAGCGCCCCTCCTCC	0.642																																					p.A1852T		.											.	MLL4-697	0			c.G5554A						.						24.0	28.0	26.0					19																	36222925		1935	4132	6067	SO:0001583	missense	8085	exon27			GGCAGCGCCCCTC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5554G>A	19.37:g.36222925G>A	ENSP00000222270:p.Ala1852Thr	35	0		73	18	NM_014727	0	0	18	30	12	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428410	0.25726	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82984	-1.67;-1.67	5.33	5.33	0.75918	.	0.330258	0.21799	N	0.068942	T	0.69869	0.3159	L	0.34521	1.04	0.24378	N	0.994805	P	0.35551	0.509	B	0.26969	0.075	T	0.58934	-0.7548	10	0.09590	T	0.72	.	13.7658	0.62995	0.0:0.0:0.8457:0.1543	.	1852	Q9UMN6	MLL4_HUMAN	T	1852	ENSP00000222270:A1852T;ENSP00000398837:A1852T	ENSP00000222270:A1852T	A	+	1	0	AD000671.1	40914765	0.027000	0.19231	0.793000	0.32043	0.786000	0.44442	2.095000	0.41729	2.659000	0.90383	0.655000	0.94253	GCC	.		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
LRFN3	79414	hgsc.bcm.edu	37	19	36430696	36430696	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36430696C>T	ENST00000588831.1	+	3	1423	c.369C>T	c.(367-369)ggC>ggT	p.G123G	LRFN3_ENST00000246529.3_Silent_p.G123G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	123					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTCACTGGGCGAGGGCCAGC	0.701																																					p.G123G		.											.	LRFN3-90	0			c.C369T						.						20.0	22.0	21.0					19																	36430696		2189	4266	6455	SO:0001819	synonymous_variant	79414	exon2			ACTGGGCGAGGGC	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.369C>T	19.37:g.36430696C>T		1	0		17	10	NM_024509	0	0	0	0	0	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			.		0.701	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509	
ZNF781	163115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38160733	38160733	+	Missense_Mutation	SNP	C	C	T	rs12460961		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38160733C>T	ENST00000590008.1	-	5	1169	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.R106Q			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	106					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.R106Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCTTTGATGTCGAATAAGATG	0.368																																					p.R106Q		.											.	ZNF781-90	1	Substitution - Missense(1)	large_intestine(1)	c.G317A						.						120.0	117.0	118.0					19																	38160733		2203	4300	6503	SO:0001583	missense	163115	exon4			TGATGTCGAATAA	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.317G>A	19.37:g.38160733C>T	ENSP00000466370:p.Arg106Gln	46	0		66	34	NM_152605	0	0	1	4	3	Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403072	0.01165	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.26223	1.75	2.23	-4.45	0.03546	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.31065	0.9	0.09310	N	1	B	0.30281	0.275	B	0.30029	0.11	T	0.35500	-0.9786	9	0.02654	T	1	.	4.2745	0.10802	0.4025:0.3955:0.0:0.202	rs12460961;rs12460961	106	Q8N8C0	ZN781_HUMAN	Q	106	ENSP00000351391:R106Q	ENSP00000351391:R106Q	R	-	2	0	ZNF781	42852573	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-8.501000	0.00020	-1.354000	0.02188	-1.279000	0.01387	CGA	C|1.000;|0.000		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605	
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38591715	38591715	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38591715C>T	ENST00000222345.6	+	6	2387	c.1878C>T	c.(1876-1878)ggC>ggT	p.G626G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	626	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAAGGTGGGCATCCTCTATT	0.607																																					p.G626G		.											.	SIPA1L3-91	0			c.C1878T						.						41.0	41.0	41.0					19																	38591715		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon6			GGTGGGCATCCTC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1878C>T	19.37:g.38591715C>T		103	0		177	32	NM_015073	0	0	0	0	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
DPF1	8193	hgsc.bcm.edu	37	19	38713189	38713189	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38713189C>T	ENST00000420980.2	-	2	296	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DPF1_ENST00000416611.1_Splice_Site_p.P64P|DPF1_ENST00000456296.1_Splice_Site_p.P64P|DPF1_ENST00000414789.1_Splice_Site_p.P8P|DPF1_ENST00000412732.1_Splice_Site_p.P8P|DPF1_ENST00000355526.4_Splice_Site_p.P90P	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	90					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGCGGTACCCGGCCCGCGGT	0.736																																					p.P90P		.											.	DPF1-90	0			c.G270A						.						13.0	15.0	14.0					19																	38713189		2190	4276	6466	SO:0001630	splice_region_variant	8193	exon2			GGTACCCGGCCCG	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.271+1G>A	19.37:g.38713189C>T		3	0		76	44	NM_001135155	0	0	0	0	0	B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	c	0.736	-0.778249	0.02929	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40887	-0.9539	4	.	.	.	-6.8909	1.0179	0.01511	0.1736:0.2704:0.1576:0.3984	.	.	.	.	R	83	.	.	G	-	1	0	DPF1	43405029	0.000000	0.05858	0.309000	0.25155	0.292000	0.27327	-3.015000	0.00645	-3.058000	0.00257	-0.511000	0.04467	GGG	.		0.736	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1		Silent
RYR1	6261	broad.mit.edu	37	19	38966036	38966036	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38966036C>T	ENST00000359596.3	+	29	4239	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D	RYR1_ENST00000360985.3_Silent_p.D1413D|RYR1_ENST00000355481.4_Silent_p.D1413D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1413	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCCTCACGACGTGGTGCCTG	0.612																																					p.D1413D		.											.	RYR1-100	0			c.C4239T						.						53.0	43.0	46.0					19																	38966036		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon29			TCACGACGTGGTG	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.4239C>T	19.37:g.38966036C>T		53	0		212	6	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	hgsc.bcm.edu;broad.mit.edu	37	19	38993359	38993359	+	Silent	SNP	G	G	A	rs201827284		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38993359G>A	ENST00000359596.3	+	48	7827	c.7827G>A	c.(7825-7827)tcG>tcA	p.S2609S	RYR1_ENST00000360985.3_Silent_p.S2609S|RYR1_ENST00000355481.4_Silent_p.S2609S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2609	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCTCATGTCGCTCTGCAGGT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		5451	0.0		0.001	False		,,,				2504	0.0				p.S2609S		.											.	RYR1-100	0			c.G7827A						.	G	,	0,4406		0,0,2203	39.0	34.0	36.0		7827,7827	-3.9	1.0	19		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2609/5039,2609/5034	38993359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6261	exon48			CATGTCGCTCTGC	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.7827G>A	19.37:g.38993359G>A		15	0		82	37	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			G|0.999;A|0.000		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PAK4	10298	hgsc.bcm.edu	37	19	39663757	39663757	+	Missense_Mutation	SNP	G	G	A	rs56099436	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39663757G>A	ENST00000593690.1	+	5	831	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	PAK4_ENST00000360442.3_Missense_Mutation_p.R135Q|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.R135Q|PAK4_ENST00000321944.4_Intron|PAK4_ENST00000358301.3_Missense_Mutation_p.R135Q	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	135	Linker.		R -> Q (in dbSNP:rs56099436). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCAGGCAGCCGAGGCCGGTTC	0.736													g|||	34	0.00678914	0.0008	0.0115	5008	,	,		10680	0.0		0.0189	False		,,,				2504	0.0061				p.R135Q		.											.	PAK4-957	0			c.G404A						.		GLN/ARG,GLN/ARG,,,GLN/ARG	13,3671		0,13,1829	3.0	4.0	4.0		404,404,,,404	1.7	0.0	19	dbSNP_129	4	147,7075		0,147,3464	no	missense,missense,intron,intron,missense	PAK4	NM_001014831.2,NM_001014832.1,NM_001014834.2,NM_001014835.1,NM_005884.3	43,43,,,43	0,160,5293	AA,AG,GG		2.0354,0.3529,1.4671	possibly-damaging,possibly-damaging,,,possibly-damaging	135/592,135/592,,,135/592	39663757	160,10746	1842	3611	5453	SO:0001583	missense	10298	exon3			GCAGCCGAGGCCG	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.404G>A	19.37:g.39663757G>A	ENSP00000469413:p.Arg135Gln	0	0		10	7	NM_001014832	0	0	6	14	8	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	CCDS12528.1	25	0.011446886446886446	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	15	0.01978891820580475	G	0.017	-1.510561	0.00984	0.003529	0.020354	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.71103	-0.54;-0.54;-0.54	3.9	1.73	0.24493	.	1.445110	0.04338	N	0.353591	T	0.32734	0.0839	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21075	-1.0256	10	0.12430	T	0.62	.	7.4578	0.27276	0.3592:0.0:0.6408:0.0	rs56099436	135	O96013	PAK4_HUMAN	Q	135	ENSP00000351049:R135Q;ENSP00000392753:R135Q;ENSP00000353625:R135Q	ENSP00000351049:R135Q	R	+	2	0	PAK4	44355597	0.000000	0.05858	0.026000	0.17262	0.011000	0.07611	0.293000	0.19029	-0.014000	0.14175	-1.157000	0.01802	CGA	G|0.989;A|0.011		0.736	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1		
SYCN	342898	hgsc.bcm.edu	37	19	39694831	39694831	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39694831C>T	ENST00000318438.6	-	1	75	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	22					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGGGGCAGGCGCCCTGGGCG	0.701																																					p.A22T		.											.	SYCN-68	0			c.G64A						.						12.0	13.0	12.0					19																	39694831		1904	4032	5936	SO:0001583	missense	342898	exon1			GGCAGGCGCCCTG	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"""insulin synthesis associated 1"""	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.64G>A	19.37:g.39694831C>T	ENSP00000325564:p.Ala22Thr	2	0		40	19	NM_001080468	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318438.6	37	CCDS46070.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914117	0.33815	.	.	ENSG00000179751	ENST00000318438	T	0.47869	0.83	4.3	0.664	0.17890	.	2.019990	0.02952	N	0.141838	T	0.42131	0.1189	L	0.50333	1.59	0.09310	N	1	D	0.61080	0.989	B	0.41412	0.356	T	0.35001	-0.9806	10	0.49607	T	0.09	-2.5601	5.0891	0.14698	0.0:0.4849:0.3231:0.1919	.	22	Q0VAF6	SYCN_HUMAN	T	22	ENSP00000325564:A22T	ENSP00000325564:A22T	A	-	1	0	SYCN	44386671	0.008000	0.16893	0.046000	0.18839	0.335000	0.28730	0.097000	0.15168	0.065000	0.16485	0.491000	0.48974	GCC	.		0.701	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1		
LRFN1	57622	hgsc.bcm.edu	37	19	39805167	39805167	+	Silent	SNP	G	G	A	rs374857273		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39805167G>A	ENST00000248668.4	-	1	809	c.810C>T	c.(808-810)gaC>gaT	p.D270D	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	270	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCTAAGTCGTCCTCGCGGG	0.692																																					p.D270D		.											.	LRFN1-70	0			c.C810T						.	G		0,4386		0,0,2193	20.0	27.0	25.0		810	-6.5	0.9	19		25	1,8579		0,1,4289	no	coding-synonymous	LRFN1	NM_020862.1		0,1,6482	AA,AG,GG		0.0117,0.0,0.0077		270/772	39805167	1,12965	2193	4290	6483	SO:0001819	synonymous_variant	57622	exon1			TAAGTCGTCCTCG	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.810C>T	19.37:g.39805167G>A		3	0		58	27	NM_020862	0	0	1	5	4	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																			.		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862	
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40412003	40412003	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:40412003C>T	ENST00000221347.6	-	7	3632	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1209	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATCACATCCGGGGCCAGGG	0.667																																					p.G1209R		.											.	FCGBP-98	0			c.G3625A						.						41.0	41.0	41.0					19																	40412003		2203	4300	6503	SO:0001583	missense	8857	exon7			CACATCCGGGGCC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3625G>A	19.37:g.40412003C>T	ENSP00000221347:p.Gly1209Arg	14	0		169	21	NM_003890	0	0	0	0	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793813	0.16327	.	.	ENSG00000090920	ENST00000221347	T	0.05996	3.36	4.3	0.552	0.17230	.	1.743160	0.02910	N	0.136611	T	0.19604	0.0471	M	0.78916	2.43	0.09310	N	1	D	0.56287	0.975	P	0.59221	0.854	T	0.32745	-0.9895	10	0.16420	T	0.52	.	7.3105	0.26471	0.0:0.4198:0.0:0.5802	.	1209	Q9Y6R7	FCGBP_HUMAN	R	1209	ENSP00000221347:G1209R	ENSP00000221347:G1209R	G	-	1	0	FCGBP	45103843	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.119000	0.10676	0.001000	0.14605	-0.436000	0.05848	GGA	.		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
FCGBP	8857	hgsc.bcm.edu	37	19	40430566	40430566	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:40430566G>A	ENST00000221347.6	-	3	1384	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	459						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGCCTTCCCGCCTACCACCT	0.677																																					p.G459G		.											.	FCGBP-98	0			c.C1377T						.						21.0	18.0	19.0					19																	40430566		2197	4293	6490	SO:0001819	synonymous_variant	8857	exon3			CTTCCCGCCTACC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1377C>T	19.37:g.40430566G>A		1	0		40	14	NM_003890	0	0	0	0	0	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			.		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
BCKDHA	593	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41931793	41931793	+	IGR	SNP	G	G	A	rs147647792		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:41931793G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.F297F|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGCCACCTTCGAAGAAGGACT	0.667																																					p.F297F		.											.	B3GNT8-90	0			c.C891T						.	G		0,4404		0,0,2202	27.0	29.0	28.0		891	-7.1	0.1	19	dbSNP_134	28	1,8591		0,1,4295	no	coding-synonymous	B3GNT8	NM_198540.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		297/398	41931793	1,12995	2202	4296	6498	SO:0001628	intergenic_variant	374907	exon3			ACCTTCGAAGAAG	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931793G>A		59	1		166	56	NM_198540	0	0	1	1	0	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																			G|1.000;A|0.000		0.667	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709	
IRGC	56269	hgsc.bcm.edu	37	19	44223766	44223766	+	Silent	SNP	C	C	T	rs560626765		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:44223766C>T	ENST00000244314.5	+	2	1255	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	352						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGTCCGACGGCGCCATGC	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16605	0.0		0.0	False		,,,				2504	0.0				p.D352D	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C1056T						.						38.0	39.0	39.0					19																	44223766		2203	4300	6503	SO:0001819	synonymous_variant	56269	exon2			GTCCGACGGCGCC	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1056C>T	19.37:g.44223766C>T		1	0		84	48	NM_019612	0	0	0	0	0	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			.		0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
ZNF296	162979	broad.mit.edu	37	19	45578983	45578983	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:45578983C>T	ENST00000303809.2	-	2	650	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	CTB-179K24.3_ENST00000586744.1_RNA	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	146					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)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GAGCCCTGGCCGCGGCTGGGG	0.657																																					p.G146S		.											.	ZNF296-90	0			c.G436A						.						40.0	47.0	45.0					19																	45578983		2203	4300	6503	SO:0001583	missense	162979	exon2			CCTGGCCGCGGCT	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.436G>A	19.37:g.45578983C>T	ENSP00000302770:p.Gly146Ser	88	0		178	5	NM_145288	0	0	0	0	0		Missense_Mutation	SNP	ENST00000303809.2	37	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	c	6.731	0.503628	0.12822	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.04502	3.61	4.53	-9.07	0.00724	.	1.434950	0.04543	N	0.388591	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44019	-0.9355	10	0.52906	T	0.07	-0.0023	0.7007	0.00907	0.2336:0.3135:0.1564:0.2965	.	146	Q8WUU4	ZN296_HUMAN	S	146;122	ENSP00000302770:G146S	ENSP00000302770:G146S	G	-	1	0	ZNF296	50270823	0.000000	0.05858	0.001000	0.08648	0.521000	0.34408	-2.260000	0.01177	-1.677000	0.01455	-0.357000	0.07601	GGC	.		0.657	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288	
KLC3	147700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45852157	45852157	+	Missense_Mutation	SNP	G	G	A	rs190310418	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:45852157G>A	ENST00000391946.2	+	7	1049	c.947G>A	c.(946-948)cGc>cAc	p.R316H	KLC3_ENST00000585434.1_Missense_Mutation_p.R315H|KLC3_ENST00000470402.1_Missense_Mutation_p.R330H	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	316					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGTGCCAGCGCGCTTTGGAG	0.657													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15800	0.0		0.0	False		,,,				2504	0.0				p.R316H		.											.	KLC3-91	0			c.G947A						.	G	HIS/ARG	0,4192		0,0,2096	25.0	31.0	29.0		947	3.6	1.0	19		29	1,8425		0,1,4212	no	missense	KLC3	NM_177417.2	29	0,1,6308	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging	316/505	45852157	1,12617	2096	4213	6309	SO:0001583	missense	147700	exon7			GCCAGCGCGCTTT	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.947G>A	19.37:g.45852157G>A	ENSP00000375810:p.Arg316His	47	0		122	29	NM_177417	0	0	5	7	2	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	26.3	4.724946	0.89298	0.0	1.19E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.94758	-3.51;-3.51	3.62	3.62	0.41486	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.072184	0.52532	D	0.000069	D	0.96914	0.8992	M	0.82923	2.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.99;0.994	D	0.97315	0.9940	10	0.87932	D	0	-30.4627	13.183	0.59666	0.0:0.0:1.0:0.0	.	315;330;316	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	H	316;330	ENSP00000375810:R316H;ENSP00000436019:R330H	ENSP00000375810:R316H	R	+	2	0	KLC3	50543997	1.000000	0.71417	0.952000	0.39060	0.946000	0.59487	9.554000	0.98121	2.030000	0.59900	0.561000	0.74099	CGC	G|0.999;A|0.000		0.657	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275	
EML2	24139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	46129994	46129994	+	Frame_Shift_Del	DEL	C	C	-	rs149378245		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:46129994delC	ENST00000245925.3	-	8	760	c.710delG	c.(709-711)ggcfs	p.G237fs	EML2_ENST00000589876.1_Frame_Shift_Del_p.G237fs|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Frame_Shift_Del_p.G384fs|EML2_ENST00000587152.1_Frame_Shift_Del_p.G438fs	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	237	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCTCAAGCTGCCCCCCTCCAA	0.597																																					p.G438fs		.											.	EML2-154	0			c.1313delG						.						84.0	83.0	83.0					19																	46129994		2203	4300	6503	SO:0001589	frameshift_variant	24139	exon11			AAGCTGCCCCCCT	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.710delG	19.37:g.46129994delC	ENSP00000245925:p.Gly237fs	77	0		130	50	NM_001193268	0	0	0	0	0	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Frame_Shift_Del	DEL	ENST00000245925.3	37	CCDS12670.1																																																																																			.		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
DMWD	1762	hgsc.bcm.edu	37	19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)ctgfs	p.L456fs	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711																																					p.L456fs		.											.	DMWD-90	0			c.1366delC						.						4.0	6.0	5.0					19																	46289388		1989	3960	5949	SO:0001589	frameshift_variant	1762	exon3			GGGCCAGGGGGGG	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1366delC	19.37:g.46289388delG	ENSP00000270223:p.Leu456fs	15	1		143	69	NM_004943	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000270223.6	37	CCDS33054.1																																																																																			.		0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943	
FKRP	79147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47259950	47259950	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47259950G>A	ENST00000318584.5	+	4	1540	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	FKRP_ENST00000391909.3_Missense_Mutation_p.V415M|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	415					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCACTTGCACGTGGACCTGTG	0.627																																					p.V415M		.											.	FKRP-91	0			c.G1243A						.						97.0	55.0	69.0					19																	47259950		2203	4300	6503	SO:0001583	missense	79147	exon4			TTGCACGTGGACC	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1243G>A	19.37:g.47259950G>A	ENSP00000326570:p.Val415Met	34	0		123	55	NM_024301	0	0	4	15	11	A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190518	0.78789	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99829	-7.0;-7.0	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97102	0.9798	10	0.87932	D	0	-22.4694	17.3873	0.87420	0.0:0.0:1.0:0.0	.	415	Q9H9S5	FKRP_HUMAN	M	415	ENSP00000375776:V415M;ENSP00000326570:V415M	ENSP00000326570:V415M	V	+	1	0	FKRP	51951790	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	9.525000	0.98039	2.413000	0.81919	0.305000	0.20034	GTG	.		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301	
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47571027	47571027	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47571027G>A	ENST00000253048.5	-	15	2535	c.2498C>T	c.(2497-2499)cCg>cTg	p.P833L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	833							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AACTGAAGCCGGGGGTCGGCT	0.647																																					p.P833L		.											.	ZC3H4-74	0			c.C2498T						.						15.0	17.0	16.0					19																	47571027		1984	4136	6120	SO:0001583	missense	23211	exon15			GAAGCCGGGGGTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2498C>T	19.37:g.47571027G>A	ENSP00000253048:p.Pro833Leu	25	0		83	42	NM_015168	0	0	3	7	4	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	6.778	0.512434	0.12944	.	.	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.58	2.14	0.27477	.	0.214143	0.40302	N	0.001126	T	0.07052	0.0179	N	0.08118	0	0.39982	D	0.974929	P	0.51351	0.944	B	0.33392	0.163	T	0.27971	-1.0058	10	0.52906	T	0.07	.	12.6555	0.56786	0.0:0.0:0.4152:0.5848	.	833	Q9UPT8	ZC3H4_HUMAN	L	833	ENSP00000253048:P833L	ENSP00000253048:P833L	P	-	2	0	ZC3H4	52262867	0.771000	0.28555	0.806000	0.32338	0.047000	0.14425	1.018000	0.30002	0.394000	0.25230	-0.262000	0.10625	CCG	.		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1		
DHX34	9704	broad.mit.edu;bcgsc.ca	37	19	47856391	47856391	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47856391C>T	ENST00000328771.4	+	2	453	c.104C>T	c.(103-105)aCg>aTg	p.T35M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	35					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGTCCAGAGACGCGTCGCCTC	0.562																																					p.T35M		.											.	DHX34-231	0			c.C104T						.						57.0	53.0	55.0					19																	47856391		2203	4300	6503	SO:0001583	missense	9704	exon2			CAGAGACGCGTCG	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.104C>T	19.37:g.47856391C>T	ENSP00000331907:p.Thr35Met	133	0		199	6	NM_014681	0	0	7	7	0	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519292	0.85495	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02787	4.16	5.84	5.84	0.93424	.	0.202151	0.34484	N	0.003928	T	0.09862	0.0242	L	0.53249	1.67	0.38998	D	0.959284	D;D	0.76494	0.986;0.999	P;P	0.55667	0.477;0.781	T	0.01925	-1.1246	10	0.45353	T	0.12	-8.8277	18.9005	0.92440	0.0:1.0:0.0:0.0	.	35;35	Q14147;B4E3G3	DHX34_HUMAN;.	M	35	ENSP00000331907:T35M	ENSP00000257252:T35M	T	+	2	0	DHX34	52548231	0.923000	0.31300	0.962000	0.40283	0.967000	0.64934	1.618000	0.36954	2.770000	0.95276	0.555000	0.69702	ACG	.		0.562	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
GLTSCR1	29998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	48204610	48204610	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:48204610G>A	ENST00000396720.3	+	15	3815	c.3621G>A	c.(3619-3621)tcG>tcA	p.S1207S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1207										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCTCCCGCTCGCTCGGCCTCC	0.682																																					p.S1207S		.											.	GLTSCR1-48	0			c.G3621A						.						16.0	20.0	19.0					19																	48204610		1995	4136	6131	SO:0001819	synonymous_variant	29998	exon15			CCGCTCGCTCGGC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3621G>A	19.37:g.48204610G>A		27	0		98	36	NM_015711	0	0	14	33	19	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			.		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	
LMTK3	114783	broad.mit.edu;bcgsc.ca	37	19	49013775	49013775	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49013775C>T	ENST00000600059.1	-	2	378	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CTC-273B12.10_ENST00000598924.1_lincRNA|LMTK3_ENST00000270238.3_Missense_Mutation_p.A80T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	51					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGATGAAGGCCAGCAGGCCG	0.627																																					p.A80T		.											.	LMTK3-1357	0			c.G238A						.						45.0	60.0	55.0					19																	49013775		2088	4218	6306	SO:0001583	missense	114783	exon3			TGAAGGCCAGCAG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.151G>A	19.37:g.49013775C>T	ENSP00000472020:p.Ala51Thr	166	0		238	9	NM_001080434	0	0	0	0	0	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	c	16.76	3.211035	0.58343	.	.	ENSG00000142235	ENST00000270238	T	0.77358	-1.09	3.95	3.95	0.45737	.	0.083770	0.47093	U	0.000250	T	0.65080	0.2657	N	0.11427	0.14	0.37504	D	0.916866	P	0.51057	0.941	P	0.49332	0.607	T	0.64668	-0.6353	10	0.12766	T	0.61	.	13.9365	0.64027	0.0:1.0:0.0:0.0	.	51	Q96Q04	LMTK3_HUMAN	T	80	ENSP00000270238:A80T	ENSP00000270238:A80T	A	-	1	0	LMTK3	53705587	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.721000	0.38032	2.223000	0.72356	0.282000	0.19409	GCC	.		0.627	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
RASIP1	54922	hgsc.bcm.edu	37	19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	rs2287922	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2.0	3.0	3.0		1801	4.2	1.0	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	0	0		5	5	NM_017805	0	0	2	6	4	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
BAX	581	hgsc.bcm.edu;bcgsc.ca	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																					p.M38fs		.											.	BAX-1271	1	Deletion - Frameshift(1)	lung(1)	c.114delG						.						59.0	57.0	57.0					19																	49458971		2203	4300	6503	SO:0001589	frameshift_variant	581	exon3			GCGAATGGGGGGG		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs	158	1		290	119	NM_004324	0	0	0	0	0	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	ENST00000345358.7	37	CCDS12742.1																																																																																			.		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
PPFIA3	8541	broad.mit.edu	37	19	49641518	49641518	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49641518G>A	ENST00000334186.4	+	16	2259	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R637Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	637					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGAGAGTCGGGTGTCCAGC	0.642																																					p.R637Q		.											.	PPFIA3-226	0			c.G1910A						.						31.0	33.0	32.0					19																	49641518		2203	4300	6503	SO:0001583	missense	8541	exon16			AGAGTCGGGTGTC	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1910G>A	19.37:g.49641518G>A	ENSP00000335614:p.Arg637Gln	120	1		189	5	NM_003660	0	0	5	5	0	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075197	0.94000	.	.	ENSG00000177380	ENST00000334186	T	0.22539	1.95	4.36	4.36	0.52297	.	0.000000	0.42964	U	0.000623	T	0.51244	0.1663	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.91635	0.79;0.999	T	0.61392	-0.7072	10	0.87932	D	0	-13.4362	16.0201	0.80478	0.0:0.0:1.0:0.0	.	637;637	O75145-2;O75145	.;LIPA3_HUMAN	Q	637	ENSP00000335614:R637Q	ENSP00000335614:R637Q	R	+	2	0	PPFIA3	54333330	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.286000	0.95898	2.146000	0.66826	0.544000	0.68410	CGG	.		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
ZNF473	25888	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50548675	50548675	+	Silent	SNP	C	C	T	rs146105171		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:50548675C>T	ENST00000595661.1	+	6	1470	c.975C>T	c.(973-975)tgC>tgT	p.C325C	ZNF473_ENST00000270617.3_Silent_p.C325C|ZNF473_ENST00000391821.2_Silent_p.C325C|ZNF473_ENST00000445728.3_Silent_p.C313C|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	325	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTAACGAATGCGGCAAGGCTT	0.498																																					p.C325C		.											.	ZNF473-91	0			c.C975T						.	C	,	0,4406		0,0,2203	105.0	99.0	101.0		975,975	-3.7	0.0	19	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	325/872,325/872	50548675	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25888	exon5			CGAATGCGGCAAG	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.975C>T	19.37:g.50548675C>T		144	1		235	113	NM_015428	0	0	1	5	4	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																			C|1.000;T|0.000		0.498	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
ZNF836	162962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52658977	52658977	+	Silent	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:52658977T>C	ENST00000322146.8	-	5	2480	c.1959A>G	c.(1957-1959)ctA>ctG	p.L653L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L653L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	653					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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGACGTGCTAGGCATGAGT	0.403																																					p.L653L		.											.	ZNF836-46	0			c.A1959G						.						149.0	160.0	156.0					19																	52658977		2159	4275	6434	SO:0001819	synonymous_variant	162962	exon5			ACGTGCTAGGCAT	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1959A>G	19.37:g.52658977T>C		122	0		177	18	NM_001102657	0	0	35	44	9		Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																			.		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF701	55762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53086056	53086056	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:53086056C>T	ENST00000540331.1	+	5	1167	c.942C>T	c.(940-942)tgC>tgT	p.C314C	ZNF701_ENST00000391785.3_Silent_p.C248C|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Silent_p.C314C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTGATGTATGCGGCAAGGACT	0.408																																					p.C314C	NSCLC(89;451 1475 9611 20673 52284)	.											.	ZNF701-90	0			c.C942T						.						95.0	90.0	91.0					19																	53086056		2203	4300	6503	SO:0001819	synonymous_variant	55762	exon5			TGTATGCGGCAAG	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.942C>T	19.37:g.53086056C>T		293	0		375	184	NM_001172655	0	0	1	1	0	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																			.		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
ZNF665	79788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53668192	53668192	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:53668192A>G	ENST00000600412.1	-	2	1471	c.1356T>C	c.(1354-1356)aaT>aaC	p.N452N	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.N517N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	452					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCCACACTCATTACACTTGT	0.388																																					p.N517N		.											.	ZNF665-70	0			c.T1551C						.						131.0	139.0	136.0					19																	53668192		2203	4300	6503	SO:0001819	synonymous_variant	79788	exon4			ACACTCATTACAC		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1356T>C	19.37:g.53668192A>G		90	0		149	85	NM_024733	0	0	4	4	0	A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																				.		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
NLRP12	91662	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54314363	54314363	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54314363C>T	ENST00000324134.6	-	3	718	c.550G>A	c.(550-552)Gcg>Acg	p.A184T	NLRP12_ENST00000354278.3_Missense_Mutation_p.A184T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					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.A184T(1)		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)		ACGGTCCTCGCGTGTCCCCGG	0.642																																					p.V184M		.											.	NLRP12-211	1	Substitution - Missense(1)	breast(1)	c.G550A						.						85.0	70.0	75.0					19																	54314363		2203	4300	6503	SO:0001583	missense	91662	exon3			TCCTCGCGTGTCC	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.550G>A	19.37:g.54314363C>T	ENSP00000319377:p.Ala184Thr	92	1		234	98	NM_144687	0	0	0	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246174	0.10130	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.04	-2.75	0.05914	.	0.569423	0.14536	N	0.313599	T	0.73385	0.3580	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.31968	0.349;0.036;0.008;0.036	B;B;B;B	0.20955	0.032;0.007;0.002;0.007	T	0.61397	-0.7071	10	0.36615	T	0.2	.	1.4061	0.02281	0.2935:0.3937:0.1351:0.1778	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	184	ENSP00000319377:A184T;ENSP00000438030:A184T;ENSP00000340473:A184T;ENSP00000346231:A184T;ENSP00000375655:A184T;ENSP00000375653:A184T;ENSP00000375652:A184T	ENSP00000319377:A184T	A	-	1	0	NLRP12	59006175	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.692000	0.05127	-0.630000	0.05567	0.297000	0.19635	GCG	.		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
LILRB2	10288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54782326	54782326	+	Missense_Mutation	SNP	C	C	T	rs202223934		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54782326C>T	ENST00000391749.4	-	7	1317	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	LILRB2_ENST00000391748.1_Missense_Mutation_p.R349Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R233Q|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.R349Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R349Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	349	Ig-like C2-type 4.		R -> G (in dbSNP:rs7247025).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGAACTGCCGCCATGACTG	0.562																																					p.R349Q		.											.	LILRB2-91	0			c.G1046A						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	101.0	100.0		1046,1046	-4.8	0.0	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	349/598,349/599	54782326	2,13004	2203	4300	6503	SO:0001583	missense	10288	exon7			AACTGCCGCCATG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1046G>A	19.37:g.54782326C>T	ENSP00000375629:p.Arg349Gln	424	1		589	282	NM_005874	0	0	0	0	0	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	5.778	0.327855	0.10956	2.27E-4	1.16E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05	2.38	-4.76	0.03229	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.622570	0.01630	N	0.023492	T	0.02230	0.0069	N	0.10809	0.05	0.09310	N	1	B;B;B	0.16166	0.006;0.004;0.016	B;B;B	0.16289	0.015;0.015;0.015	T	0.42882	-0.9425	10	0.29301	T	0.29	.	5.0866	0.14687	0.6609:0.1992:0.0:0.1399	.	349;366;349	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	349;349;349;349;233	ENSP00000375628:R349Q;ENSP00000319960:R349Q;ENSP00000375629:R349Q;ENSP00000375626:R349Q;ENSP00000410117:R233Q	ENSP00000319960:R349Q	R	-	2	0	LILRB2	59474138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.822000	0.01711	-1.126000	0.02929	0.442000	0.29010	CGG	C|0.999;T|0.001		0.562	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
LILRB1	10859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55144512	55144512	+	Missense_Mutation	SNP	C	C	T	rs374617117		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:55144512C>T	ENST00000396331.1	+	8	1361	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	LILRB1_ENST00000434867.2_Missense_Mutation_p.T335M|LILRB1_ENST00000324602.7_Missense_Mutation_p.T335M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T335M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T335M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T335M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T335M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T335M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T371M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T335M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T335M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	335	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.T335K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGGGCCCCACGGTGGCCTCA	0.607										HNSCC(37;0.09)																											p.T335M		.											.	LILRB1-137	1	Substitution - Missense(1)	lung(1)	c.C1004T						.	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	67.0	71.0	69.0		1004,1004,1004,1004	-4.2	0.0	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	335/653,335/652,335/652,335/651	55144512	1,13005	2203	4300	6503	SO:0001583	missense	10859	exon7			GCCCCACGGTGGC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1004C>T	19.37:g.55144512C>T	ENSP00000379622:p.Thr335Met	185	0		356	67	NM_001081637	0	0	0	0	0	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812542	0.16537	0.0	1.16E-4	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	2.08	-4.16	0.03869	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.335370	0.02142	N	0.057250	T	0.07728	0.0194	M	0.75447	2.3	0.09310	N	1	B;B;P;B;P	0.39071	0.451;0.23;0.649;0.419;0.658	B;B;P;B;B	0.45428	0.223;0.202;0.48;0.349;0.432	T	0.35301	-0.9794	10	0.66056	D	0.02	.	0.7148	0.00930	0.3989:0.2473:0.1982:0.1557	.	335;335;335;335;335	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	335;335;335;335;335;335;335;335;371;335;335	ENSP00000379614:T335M;ENSP00000391514:T335M;ENSP00000409968:T335M;ENSP00000379622:T335M;ENSP00000379618:T335M;ENSP00000315997:T335M;ENSP00000405243:T335M;ENSP00000379623:T335M;ENSP00000395004:T371M;ENSP00000379610:T335M;ENSP00000379608:T335M	ENSP00000315997:T335M	T	+	2	0	LILRB1	59836324	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.586000	0.02110	-0.662000	0.05338	-1.036000	0.02392	ACG	.		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
KIR3DL1	3811	hgsc.bcm.edu	37	19	55324635	55324635	+	Intron	SNP	T	T	C	rs649216	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:55324635T>C	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Silent_p.F254F|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Silent_p.F252F|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.F254F(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCATCCTCTTTACCATCCTTC	0.502													c|||	2958	0.590655	0.6528	0.5605	5008	,	,		6076	0.8056		0.4871	False		,,,				2504	0.4131				p.F254F		.											.	KIR2DL4-70	2	Substitution - coding silent(2)	prostate(2)	c.C762C						.						121.0	187.0	166.0					19																	55324635		1991	4152	6143	SO:0001627	intron_variant	3805	exon6			CCTCTTTACCATC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4354T>C	19.37:g.55324635T>C		0	0		71	71	NM_001080772	0	0	0	0	0	O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																				T|0.653;C|0.347		0.502	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
FAM71E2	284418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55872251	55872251	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:55872251C>T	ENST00000424985.3	-	7	974	c.781G>A	c.(781-783)Gac>Aac	p.D261N	CTD-2105E13.6_ENST00000591954.3_5'Flank	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	261										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TGAGTTCTGTCGGGGCGGGGG	0.632																																					p.D261N		.											.	.	0			c.G781A						.						153.0	144.0	147.0					19																	55872251		692	1591	2283	SO:0001583	missense	284418	exon7			TTCTGTCGGGGCG	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.781G>A	19.37:g.55872251C>T	ENSP00000398617:p.Asp261Asn	84	0		119	27	NM_001145402	0	0	0	0	0	Q8ND99	Missense_Mutation	SNP	ENST00000424985.3	37		.	.	.	.	.	.	.	.	.	.	c	11.28	1.591365	0.28357	.	.	ENSG00000180043	ENST00000424985	T	0.12672	2.66	3.62	1.28	0.21552	.	.	.	.	.	T	0.08758	0.0217	N	0.24115	0.695	0.09310	N	1	D	0.54772	0.968	B	0.39119	0.291	T	0.24333	-1.0163	9	0.62326	D	0.03	.	9.7699	0.40582	0.0:0.5233:0.4767:0.0	.	261	Q8N5Q1	F71E2_HUMAN	N	261	ENSP00000398617:D261N	ENSP00000398617:D261N	D	-	1	0	FAM71E2	60564063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.098000	0.15189	0.443000	0.26582	0.555000	0.69702	GAC	.		0.632	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
SBK2	646643	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56042650	56042650	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:56042650C>T	ENST00000413299.1	-	3	353	c.316G>A	c.(316-318)Gag>Aag	p.E106K	SBK2_ENST00000344158.3_Missense_Mutation_p.E106K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACACAGAACTCGTACAGGAAG	0.657																																					p.E106K		.											.	SBK2-68	0			c.G316A						.						36.0	43.0	41.0					19																	56042650		2128	4237	6365	SO:0001583	missense	646643	exon3			AGAACTCGTACAG		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.316G>A	19.37:g.56042650C>T	ENSP00000389015:p.Glu106Lys	20	1		173	43	NM_001101401	0	0	0	0	0		Missense_Mutation	SNP	ENST00000413299.1	37	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241796	0.79912	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.77358	-1.09;-1.09	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	M	0.90309	3.105	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.91794	0.5446	10	0.66056	D	0.02	-32.8303	15.8993	0.79359	0.0:1.0:0.0:0.0	.	106	P0C263	SBK2_HUMAN	K	106	ENSP00000389015:E106K;ENSP00000345044:E106K	ENSP00000345044:E106K	E	-	1	0	SBK2	60734462	1.000000	0.71417	0.982000	0.44146	0.222000	0.24845	6.897000	0.75671	2.415000	0.81967	0.561000	0.74099	GAG	.		0.657	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	
FIZ1	84922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56105009	56105009	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:56105009C>T	ENST00000221665.3	-	3	387	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	100					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCAGTGTGGACGACCTAGGGG	0.642																																					p.V100I		.											.	FIZ1-90	0			c.G298A						.						10.0	15.0	13.0					19																	56105009		1899	3651	5550	SO:0001583	missense	84922	exon3			TGTGGACGACCTA	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.298G>A	19.37:g.56105009C>T	ENSP00000221665:p.Val100Ile	119	0		295	133	NM_032836	0	0	0	0	0	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291286	0.23564	.	.	ENSG00000179943	ENST00000221665	T	0.19105	2.17	3.63	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19644	0.0472	N	0.05592	-0.015	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.02646	-1.1129	9	0.02654	T	1	-29.4695	12.701	0.57032	0.0:1.0:0.0:0.0	.	100	Q96SL8	FIZ1_HUMAN	I	100	ENSP00000221665:V100I	ENSP00000221665:V100I	V	-	1	0	FIZ1	60796821	0.006000	0.16342	0.992000	0.48379	0.843000	0.47879	0.795000	0.26972	2.028000	0.59812	0.561000	0.74099	GTC	.		0.642	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836	
ZFP28	140612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	57066397	57066397	+	Missense_Mutation	SNP	G	G	A	rs139300625		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:57066397G>A	ENST00000301318.3	+	8	2314	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	748					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATTTGTCATCGCAGAAGTCAT	0.418																																					p.R748H	Ovarian(124;554 1662 19430 21141 52494)	.											.	ZFP28-91	0			c.G2243A						.	G	HIS/ARG	0,4406		0,0,2203	130.0	122.0	124.0		2243	1.9	1.0	19	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZFP28	NM_020828.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	748/869	57066397	2,13004	2203	4300	6503	SO:0001583	missense	140612	exon8			GTCATCGCAGAAG		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2243G>A	19.37:g.57066397G>A	ENSP00000301318:p.Arg748His	72	0		120	26	NM_020828	0	0	5	6	1	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198907	0.38806	0.0	2.33E-4	ENSG00000196867	ENST00000301318	T	0.07688	3.17	4.01	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173881	0.29028	N	0.013373	T	0.12092	0.0294	L	0.37897	1.145	0.42055	D	0.99113	D	0.71674	0.998	D	0.64877	0.93	T	0.19289	-1.0310	10	0.41790	T	0.15	.	2.5358	0.04714	0.2985:0.0:0.4787:0.2229	.	748	Q8NHY6	ZFP28_HUMAN	H	748	ENSP00000301318:R748H	ENSP00000301318:R748H	R	+	2	0	ZFP28	61758209	0.000000	0.05858	0.964000	0.40570	0.840000	0.47671	0.390000	0.20768	1.030000	0.39839	0.561000	0.74099	CGC	G|1.000;A|0.000		0.418	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZNF264	9422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57723746	57723746	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:57723746C>T	ENST00000263095.6	+	4	1695	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ZNF264_ENST00000536056.1_Silent_p.F427F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)		AGAAGCCCTTCGTGTGCAGTG	0.527																																					p.F427F		.											.	ZNF264-92	0			c.C1281T						.						58.0	53.0	54.0					19																	57723746		2203	4300	6503	SO:0001819	synonymous_variant	9422	exon4			GCCCTTCGTGTGC	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.1281C>T	19.37:g.57723746C>T		98	0		157	25	NM_003417	0	0	2	2	0	A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																			.		0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF805	390980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57765484	57765484	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:57765484G>A	ENST00000414468.2	+	4	1297	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	ZNF805_ENST00000354309.4_Missense_Mutation_p.G300R|ZNF805_ENST00000535550.1_Missense_Mutation_p.G300R	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TAGTGAATGCGGAAAGGCCTT	0.502																																					p.G433R		.											.	.	0			c.G1297A						.						42.0	43.0	43.0					19																	57765484		692	1591	2283	SO:0001583	missense	390980	exon4			GAATGCGGAAAGG	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1297G>A	19.37:g.57765484G>A	ENSP00000412999:p.Gly433Arg	81	0		125	52	NM_001023563	0	0	2	2	0	B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194206	0.58017	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.21361	2.01;2.01;2.01	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240490	0.22081	N	0.064884	T	0.47875	0.1469	M	0.79614	2.46	0.32055	N	0.596462	D	0.89917	1.0	D	0.78314	0.991	T	0.60177	-0.7314	10	0.72032	D	0.01	.	15.828	0.78730	0.0:0.0:1.0:0.0	.	433	Q5CZA5	ZN805_HUMAN	R	300;433;300	ENSP00000440067:G300R;ENSP00000412999:G433R;ENSP00000365414:G300R	ENSP00000365414:G300R	G	+	1	0	ZNF805	62457296	0.978000	0.34361	0.984000	0.44739	0.492000	0.33523	1.723000	0.38053	2.322000	0.78497	0.563000	0.77884	GGA	.		0.502	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563	
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58004983	58004983	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58004983G>A	ENST00000221735.7	+	5	1244	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	ZNF419_ENST00000424930.2_Missense_Mutation_p.S354N|ZNF419_ENST00000442920.2_Missense_Mutation_p.S340N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S321N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S307N|ZNF419_ENST00000426954.2_Missense_Mutation_p.S341N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S341N			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAATTCTATAGCCACAAGTCC	0.413																																					p.S354N		.											.	ZNF419-90	0			c.G1061A						.						79.0	83.0	81.0					19																	58004983		2202	4300	6502	SO:0001583	missense	79744	exon5			TCTATAGCCACAA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1058G>A	19.37:g.58004983G>A	ENSP00000221735:p.Ser353Asn	113	0		150	26	NM_001098491	0	0	8	10	2	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896499	0.33442	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	1.8	-0.719	0.11201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	N	0.17800	0.525	0.09310	N	1	D;P;D;D;P;D;P	0.62365	0.96;0.955;0.991;0.978;0.603;0.973;0.603	P;B;P;P;B;P;B	0.60949	0.881;0.402;0.843;0.785;0.216;0.679;0.216	T	0.32052	-0.9921	9	0.28530	T	0.3	.	4.6565	0.12620	0.0:0.3398:0.3201:0.34	.	307;307;340;341;354;321;353	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	N	328;354;341;341;340;354;321;307;353	ENSP00000388864:S354N;ENSP00000390916:S341N;ENSP00000346136:S341N;ENSP00000414709:S340N;ENSP00000299860:S321N;ENSP00000392129:S307N;ENSP00000221735:S353N	ENSP00000221735:S353N	S	+	2	0	ZNF419	62696795	0.000000	0.05858	0.002000	0.10522	0.790000	0.44656	-1.726000	0.01861	-0.098000	0.12285	0.205000	0.17691	AGC	.		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF135	7694	broad.mit.edu	37	19	58578302	58578302	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58578302G>A	ENST00000313434.5	+	5	551	c.450G>A	c.(448-450)acG>acA	p.T150T	ZNF135_ENST00000359978.6_Silent_p.T162T|ZNF135_ENST00000401053.4_Silent_p.T174T|ZNF135_ENST00000439855.2_Silent_p.T150T|ZNF135_ENST00000511556.1_Silent_p.T162T|ZNF135_ENST00000506786.1_Silent_p.T108T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	150					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)			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)		TGGCCTTCACGCCTGTGAAGA	0.552																																					p.T174T		.											.	ZNF135-91	0			c.G522A						.						80.0	67.0	71.0					19																	58578302		2203	4300	6503	SO:0001819	synonymous_variant	7694	exon4			CTTCACGCCTGTG	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.450G>A	19.37:g.58578302G>A		154	0		208	6	NM_007134	0	0	6	6	0	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278736	0.05679	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.43	-6.86	0.01676	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05818	-1.0862	4	.	.	.	.	4.2769	0.10813	0.5563:0.0832:0.187:0.1734	.	.	.	.	H	168	.	.	R	+	2	0	ZNF135	63270114	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.972000	0.00086	-1.207000	0.01640	CGC	.		0.552	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
ZSCAN18	65982	broad.mit.edu	37	19	58600183	58600183	+	Missense_Mutation	SNP	G	G	A	rs73058515		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58600183G>A	ENST00000240727.6	-	3	824	c.425C>T	c.(424-426)gCg>gTg	p.A142V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A198V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A142V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A7V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	142					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGATGAGCCCGCAGGGGAGCC	0.597																																					p.A198V		.											.	ZSCAN18-90	0			c.C593T						.						61.0	64.0	63.0					19																	58600183		2203	4300	6503	SO:0001583	missense	65982	exon3			GAGCCCGCAGGGG	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.425C>T	19.37:g.58600183G>A	ENSP00000240727:p.Ala142Val	43	2		89	45	NM_001145542	0	0	3	6	3	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713415	0.30413	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.54;4.21	2.43	-4.86	0.03132	Transcription regulator SCAN (1);	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;P;P;D;P	0.69078	0.122;0.801;0.879;0.997;0.469	B;B;B;P;B	0.50934	0.022;0.086;0.142;0.654;0.061	T	0.20306	-1.0279	9	0.02654	T	1	0.3555	6.8755	0.24145	0.16:0.6375:0.2025:0.0	.	198;7;212;142;142	B4DG23;E9PBI0;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;.;ZSC18_HUMAN	V	198;142;7	ENSP00000240727:A142V;ENSP00000392653:A7V	ENSP00000240727:A142V	A	-	2	0	ZSCAN18	63291995	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.901000	0.04093	-0.837000	0.04223	0.561000	0.74099	GCG	G|1.000;T|0.000		0.597	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	3196229	3196229	+	Silent	SNP	G	G	A	rs376091257		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:3196229G>A	ENST00000382125.4	-	8	1137	c.945C>T	c.(943-945)gaC>gaT	p.D315D	TSSC1_ENST00000398659.4_Silent_p.D342D|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	315										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGTCATCGTCGTCTACCAAGT	0.572																																					p.D315D	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.C945T						.	G		0,4406		0,0,2203	167.0	123.0	138.0		945	-6.2	0.5	2		138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSSC1	NM_003310.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/388	3196229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7260	exon8			ATCGTCGTCTACC	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.945C>T	2.37:g.3196229G>A		200	0		190	18	NM_003310	0	0	16	19	3	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																			.		0.572	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
TRIM54	57159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																					p.V54I		.											.	TRIM54-227	0			c.G160A						.						177.0	156.0	163.0					2																	27505759		2203	4300	6503	SO:0001583	missense	57159	exon1			AACGACGTCTTCC	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile	170	1		133	119	NM_187841	0	0	0	0	0	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC	.		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	
FOSL2	2355	ucsc.edu;bcgsc.ca	37	2	28627094	28627094	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:28627094C>A	ENST00000264716.4	+	2	1086	c.223C>A	c.(223-225)Cca>Aca	p.P75T	FOSL2_ENST00000545753.1_Missense_Mutation_p.P36T|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P50T	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	75					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATGTCCAACCCATACCCTCG	0.627																																					p.P75T		.											.	FOSL2-712	0			c.C223A						.						159.0	136.0	144.0					2																	28627094		2203	4300	6503	SO:0001583	missense	2355	exon2			TCCAACCCATACC		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.223C>A	2.37:g.28627094C>A	ENSP00000264716:p.Pro75Thr	190	2		190	166	NM_005253	0	0	1	5	4	B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163968	0.57476	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.73962	2.25	0.80722	D	1	P	0.50443	0.935	B	0.42245	0.381	T	0.51028	-0.8757	10	0.39692	T	0.17	-22.7934	15.3615	0.74478	0.0:0.8602:0.1398:0.0	.	75	P15408	FOSL2_HUMAN	T	50;75;36;36	ENSP00000368939:P50T;ENSP00000264716:P75T;ENSP00000396497:P36T;ENSP00000439303:P36T	ENSP00000264716:P75T	P	+	1	0	FOSL2	28480598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.172000	0.50832	2.485000	0.83878	0.563000	0.77884	CCA	.		0.627	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	
FOXN2	3344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	48602109	48602109	+	Missense_Mutation	SNP	G	G	A	rs200645756		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:48602109G>A	ENST00000340553.3	+	7	1084	c.823G>A	c.(823-825)Ggc>Agc	p.G275S		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	275					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GAGGAGTTACGGCAATGCATT	0.393																																					p.G275S		.											.	FOXN2-226	0			c.G823A						.						75.0	67.0	69.0					2																	48602109		2203	4300	6503	SO:0001583	missense	3344	exon7			AGTTACGGCAATG		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.823G>A	2.37:g.48602109G>A	ENSP00000343633:p.Gly275Ser	269	1		184	153	NM_002158	0	0	0	0	0	Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006587	0.19199	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.93426	-3.22	4.88	-3.53	0.04667	.	0.664966	0.15047	N	0.283536	T	0.82061	0.4955	N	0.22421	0.69	0.27311	N	0.957301	B	0.02656	0.0	B	0.01281	0.0	T	0.69518	-0.5124	10	0.07990	T	0.79	.	6.4391	0.21839	0.4194:0.0:0.4707:0.11	.	275	P32314	FOXN2_HUMAN	S	184;275	ENSP00000343633:G275S	ENSP00000305685:G184S	G	+	1	0	FOXN2	48455613	0.023000	0.18921	0.122000	0.21767	0.836000	0.47400	0.070000	0.14573	-0.844000	0.04184	-0.122000	0.15005	GGC	G|0.999;A|0.001		0.393	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158	
FSHR	2492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	49244660	49244660	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:49244660C>A	ENST00000406846.2	-	4	461	c.342G>T	c.(340-342)gaG>gaT	p.E114D	FSHR_ENST00000346173.3_Missense_Mutation_p.E114D|FSHR_ENST00000304421.4_Missense_Mutation_p.E114D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	114					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTGGAAGGCCTCAGGGTTGA	0.393									Gonadal Dysgenesis, 46 XX																												p.E114D		.											.	FSHR-527	0			c.G342T						.						149.0	139.0	143.0					2																	49244660		2203	4300	6503	SO:0001583	missense	2492	exon4	Familial Cancer Database		GAAGGCCTCAGGG		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.342G>T	2.37:g.49244660C>A	ENSP00000384708:p.Glu114Asp	166	0		99	87	NM_181446	0	0	0	0	0	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000674	0.07819	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.17	1.19	0.21007	.	0.315473	0.32802	N	0.005640	T	0.16896	0.0406	N	0.01242	-0.935	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.03493	-1.1031	9	.	.	.	.	3.8098	0.08792	0.2004:0.504:0.0:0.2956	.	114;114;114	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	D	114	ENSP00000384708:E114D;ENSP00000333908:E114D;ENSP00000306780:E114D;ENSP00000415504:E114D	.	E	-	3	2	FSHR	49098164	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	0.101000	0.15251	0.017000	0.15025	0.655000	0.94253	GAG	.		0.393	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
NRXN1	9378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	50149257	50149257	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:50149257T>A	ENST00000406316.2	-	22	5735	c.4259A>T	c.(4258-4260)tAt>tTt	p.Y1420F	NRXN1_ENST00000401669.2_Missense_Mutation_p.Y1450F|NRXN1_ENST00000404971.1_Missense_Mutation_p.Y1490F|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y1442F|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y385F|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y1442F|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y1420F|NRXN1_ENST00000401710.1_Missense_Mutation_p.Y438F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1420					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACATGGCATAGAGGAGGAT	0.532																																					p.Y1490F		.											.	NRXN1-92	0			c.A4469T						.						179.0	143.0	155.0					2																	50149257		2203	4300	6503	SO:0001583	missense	9378	exon24			ATGGCATAGAGGA	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4259A>T	2.37:g.50149257T>A	ENSP00000384311:p.Tyr1420Phe	208	2		163	143	NM_001135659	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.072615|4.072615	0.76415|0.76415	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.71817	.|0.9;2.09;0.11;0.06;-0.6;-0.49;-0.2;-0.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.48286	.|U	.|0.000197	D|D	0.83649|0.83649	0.5300|0.5300	M|M	0.76574|0.76574	2.34|2.34	0.46609|0.46609	D|D	0.999122|0.999122	.|P;D;D;D;D;P	.|0.71674	.|0.927;0.982;0.996;0.998;0.998;0.811	.|D;P;D;D;D;P	.|0.87578	.|0.953;0.889;0.998;0.987;0.989;0.762	D|D	0.85468|0.85468	0.1171|0.1171	5|10	.|0.66056	.|D	.|0.02	.|.	15.6649|15.6649	0.77221|0.77221	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|85;1490;385;1420;1439;82	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|F	153|385;339;438;1490;1420;1442;1450;1491;1442;1420	.|ENSP00000341184:Y385F;ENSP00000385580:Y438F;ENSP00000385142:Y1490F;ENSP00000384311:Y1420F;ENSP00000434015:Y1442F;ENSP00000385017:Y1450F;ENSP00000385434:Y1442F;ENSP00000385681:Y1420F	.|ENSP00000341184:Y385F	M|Y	-|-	1|2	0|0	NRXN1|NRXN1	50002761|50002761	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	7.868000|7.868000	0.87116|0.87116	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	ATG|TAT	.		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
EML6	400954	hgsc.bcm.edu;bcgsc.ca	37	2	55176077	55176077	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:55176077delA	ENST00000356458.6	+	28	4583	c.4063delA	c.(4063-4065)aaafs	p.K1358fs		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1358	Poly-Lys.					cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CAATATCACCAAAAAAAAGAA	0.473																																					p.K1355fs		.											.	.	0			c.4063delA						.						136.0	133.0	134.0					2																	55176077		692	1591	2283	SO:0001589	frameshift_variant	400954	exon28			ATCACCAAAAAAA		CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.4063delA	2.37:g.55176077delA	ENSP00000348842:p.Lys1358fs	118	1		75	58	NM_001039753	0	0	0	0	0	A8MUB5|B6ZDG7	Frame_Shift_Del	DEL	ENST00000356458.6	37	CCDS46286.1																																																																																			.		0.473	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324997.3	XM_001725002	
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	61571010	61571010	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:61571010A>G	ENST00000398571.2	-	16	2516	c.2440T>C	c.(2440-2442)Tct>Cct	p.S814P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	814					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGAGGTGAGATGTCAGTTCC	0.368																																					p.S814P		.											.	USP34-579	0			c.T2440C						.						156.0	146.0	149.0					2																	61571010		1930	4134	6064	SO:0001583	missense	9736	exon16			GGTGAGATGTCAG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2440T>C	2.37:g.61571010A>G	ENSP00000381577:p.Ser814Pro	278	0		232	201	NM_014709	0	0	0	0	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757808	0.89843	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03745	3.82	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.36672	1.1	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.14200	-1.0481	10	0.38643	T	0.18	.	15.9112	0.79475	1.0:0.0:0.0:0.0	.	814	Q70CQ2	UBP34_HUMAN	P	662;662;814	ENSP00000381577:S814P	ENSP00000263989:S662P	S	-	1	0	USP34	61424514	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.323000	0.96364	2.161000	0.67846	0.491000	0.48974	TCT	.		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
TET3	200424	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74273495	74273495	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:74273495G>A	ENST00000409262.3	+	1	46	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	16					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTAAGCGCCTCAGGGGT	0.622																																					p.A16T		.											.	.	0			c.G46A						.						40.0	42.0	41.0					2																	74273495		1935	4130	6065	SO:0001583	missense	200424	exon1			CTAAGCGCCTCAG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.46G>A	2.37:g.74273495G>A	ENSP00000386869:p.Ala16Thr	98	0		90	17	NM_144993	0	0	0	0	0	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	1.134	-0.651607	0.03506	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.21932	1.98;2.79	5.41	0.869	0.19096	.	.	.	.	.	T	0.06600	0.0169	N	0.02539	-0.55	0.21290	N	0.999732	B	0.06786	0.001	B	0.01281	0.0	T	0.39881	-0.9592	9	0.18710	T	0.47	.	3.6457	0.08184	0.4216:0.0:0.4025:0.1759	.	16	O43151	TET3_HUMAN	T	58;16;16	ENSP00000307803:A58T;ENSP00000386869:A16T	ENSP00000233310:A16T	A	+	1	0	TET3	74127003	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.699000	0.37804	0.284000	0.22305	0.561000	0.74099	GCC	.		0.622	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
WDR54	84058	broad.mit.edu	37	2	74649393	74649393	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:74649393A>G	ENST00000348227.4	+	2	201	c.113A>G	c.(112-114)cAt>cGt	p.H38R	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	38										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGCGTGGTTCATGGACCAAGC	0.652																																					p.H38R		.											.	WDR54-90	0			c.A113G						.						58.0	54.0	55.0					2																	74649393		2203	4300	6503	SO:0001583	missense	84058	exon2			TGGTTCATGGACC	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.113A>G	2.37:g.74649393A>G	ENSP00000006526:p.His38Arg	104	0		225	7	NM_032118	0	0	9	9	0	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	A	32	5.190067	0.94923	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	L	0.53249	1.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.71870	0.975	T	0.71347	-0.4620	9	0.52906	T	0.07	-14.3375	13.079	0.59102	1.0:0.0:0.0:0.0	.	38	Q9H977	WDR54_HUMAN	R	38	.	ENSP00000006526:H38R	H	+	2	0	WDR54	74502901	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.716000	0.68437	2.083000	0.62718	0.418000	0.28097	CAT	.		0.652	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118	
GLI2	2736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657																																					p.R720C		.											.	GLI2-954	0			c.C2158T						.						60.0	57.0	58.0					2																	121744055		2203	4300	6503	SO:0001583	missense	2736	exon12			CAGCTGCGCAAAC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2158C>T	2.37:g.121744055C>T	ENSP00000390436:p.Arg720Cys	167	1		248	216	NM_005270	0	0	0	4	4		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC	.		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
PROC	5624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	128185950	128185950	+	Missense_Mutation	SNP	C	C	T	rs121918154		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:128185950C>T	ENST00000234071.3	+	9	901	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PROC_ENST00000453608.2_Missense_Mutation_p.R327C|PROC_ENST00000422777.3_Missense_Mutation_p.R272C|PROC_ENST00000409048.1_Missense_Mutation_p.R306C	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	272	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in THPH3). {ECO:0000269|PubMed:1868249}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGACCTGCGGCGCTGGGAGAA	0.622																																					p.R272C		.											.	PROC-90	0			c.C814T	GRCh37	CM910317	PROC	M	rs121918154	.						60.0	55.0	56.0					2																	128185950		2203	4300	6503	SO:0001583	missense	5624	exon9			CTGCGGCGCTGGG	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.814C>T	2.37:g.128185950C>T	ENSP00000234071:p.Arg272Cys	99	0		125	7	NM_000312	0	0	0	0	0	B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994090	0.54041	.	.	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.25	1.43	0.22495	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.510472	0.16786	N	0.199594	D	0.91630	0.7355	M	0.69185	2.1	0.26172	A	0.0201596	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.995;0.985;0.998	D	0.90803	0.4695	9	0.87932	D	0	.	6.0054	0.19542	0.2848:0.5433:0.0:0.1718	.	327;328;306;272	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	C	272;231;327;306;272	ENSP00000234071:R272C;ENSP00000404030:R327C;ENSP00000386679:R306C;ENSP00000409543:R272C	ENSP00000234071:R272C	R	+	1	0	PROC	127902420	0.000000	0.05858	0.973000	0.42090	0.812000	0.45895	-0.168000	0.09925	1.209000	0.43321	0.555000	0.69702	CGC	.		0.622	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312	
CCDC74B	91409	bcgsc.ca	37	2	130897620	130897620	+	Missense_Mutation	SNP	A	A	G	rs2259332	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:130897620A>G	ENST00000310463.6	-	6	1063	c.926T>C	c.(925-927)gTc>gCc	p.V309A	CCDC74B_ENST00000409943.3_Missense_Mutation_p.V243A|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.V411A	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	309										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCCTCCGGGACTGCCTGGGG	0.667													.|||	1822	0.363818	0.3351	0.4107	5008	,	,		12901	0.3839		0.3032	False		,,,				2504	0.411				p.V309A		.											.	CCDC74B-90	0			c.T926C						.						33.0	37.0	35.0					2																	130897620		2194	4263	6457	SO:0001583	missense	91409	exon6			TCCGGGACTGCCT		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.926T>C	2.37:g.130897620A>G	ENSP00000308873:p.Val309Ala	70	2		50	41	NM_207310	0	0	0	167	167	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	632|632	0.2893772893772894|0.2893772893772894	137|137	0.2784552845528455|0.2784552845528455	111|111	0.30662983425414364|0.30662983425414364	197|197	0.34440559440559443|0.34440559440559443	187|187	0.24670184696569922|0.24670184696569922	.|.	0.001|0.001	-3.455399|-3.455399	0.00012|0.00012	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000409488|ENST00000409943;ENST00000310463;ENST00000392984	.|T;T;T	.|0.28895	.|1.59;1.59;1.59	2.15|2.15	0.0767|0.0767	0.14404|0.14404	.|.	.|2.004350	.|0.03696	.|N	.|0.247867	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.39272|0.39272	-0.9622|-0.9622	5|9	0.25106|0.23302	T|T	0.35|0.38	.|.	3.125|3.125	0.06405|0.06405	0.31:0.2268:0.4632:0.0|0.31:0.2268:0.4632:0.0	.|.	.|411;243;309	.|E7ESC5;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	P|A	207|243;309;411	.|ENSP00000386294:V243A;ENSP00000308873:V309A;ENSP00000376710:V411A	ENSP00000386250:S207P|ENSP00000308873:V309A	S|V	-|-	1|2	0|0	CCDC74B|CCDC74B	130614090|130614090	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	0.033000|0.033000	0.13754|0.13754	-0.593000|-0.593000	0.05844|0.05844	-1.964000|-1.964000	0.00472|0.00472	TCC|GTC	A|0.879;G|0.121		0.667	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310	
POTEJ	653781	bcgsc.ca	37	2	131414645	131414645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:131414645delC	ENST00000409602.1	+	15	2364	c.2312delC	c.(2311-2313)gccfs	p.A771fs		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	771	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						CTGACCGAGGCCCCCCTGAAC	0.592																																					.		.											.	.	0			.						.																																			SO:0001589	frameshift_variant	653781	.			CCGAGGCCCCCCT		CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2312delC	2.37:g.131414645delC	ENSP00000387176:p.Ala771fs	185	2		173	137	.	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000409602.1	37	CCDS59432.1																																																																																			.		0.592	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333665.1	XM_929706	
NR4A2	4929	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	157186454	157186454	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:157186454G>A	ENST00000339562.4	-	3	607	c.245C>T	c.(244-246)cCc>cTc	p.P82L	NR4A2_ENST00000409572.1_Missense_Mutation_p.P82L|NR4A2_ENST00000409108.2_Missense_Mutation_p.P82L|NR4A2_ENST00000426264.1_Missense_Mutation_p.P19L|NR4A2_ENST00000429376.1_Missense_Mutation_p.P19L|NR4A2_ENST00000539077.1_Missense_Mutation_p.P93L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	82	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TCCGGACAGGGGCATTTGGTA	0.532																																					p.P82L		.											.	NR4A2-189	0			c.C245T						.						162.0	141.0	148.0					2																	157186454		2203	4300	6503	SO:0001583	missense	4929	exon3			GACAGGGGCATTT	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.245C>T	2.37:g.157186454G>A	ENSP00000344479:p.Pro82Leu	309	0		234	15	NM_006186	0	0	0	0	0	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526079	0.64860	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;T;D	0.92545	-2.86;-2.87;-2.86;-2.87;-3.06;-2.99;-1.3;-2.14	5.94	5.94	0.96194	.	.	.	.	.	D	0.90007	0.6880	L	0.38175	1.15	0.80722	D	1	B	0.34241	0.444	B	0.35607	0.206	D	0.89069	0.3468	9	0.87932	D	0	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	82	P43354	NR4A2_HUMAN	L	82;19;82;93;82;19;82;19	ENSP00000344479:P82L;ENSP00000389986:P19L;ENSP00000386747:P82L;ENSP00000444925:P93L;ENSP00000386993:P82L;ENSP00000410952:P19L;ENSP00000406808:P82L;ENSP00000388120:P19L	ENSP00000344479:P82L	P	-	2	0	NR4A2	156894700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.820000	0.97059	0.650000	0.86243	CCC	.		0.532	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
ERMN	57471	broad.mit.edu;bcgsc.ca	37	2	158182171	158182171	+	5'UTR	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:158182171C>T	ENST00000410096.1	-	0	275				ERMN_ENST00000420719.2_5'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.R8Q|ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000409216.1_5'UTR|ERMN_ENST00000409925.1_5'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein						actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CGGTTGAATCCGATCTGGAGA	0.443																																					p.R8Q		.											.	ERMN-92	0			c.G23A						.						146.0	133.0	137.0					2																	158182171		1895	4116	6011	SO:0001623	5_prime_UTR_variant	57471	exon2			TGAATCCGATCTG	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.-17G>A	2.37:g.158182171C>T		119	1		83	7	NM_001009959	0	0	0	0	0	B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	9.761	1.170038	0.21621	.	.	ENSG00000136541	ENST00000397283	.	.	.	4.86	-0.445	0.12242	.	6.186990	0.00166	N	0.000000	T	0.33644	0.0870	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	8	0.87932	D	0	0.9556	5.3193	0.15872	0.134:0.4978:0.0:0.3683	.	8	Q8TAM6-2	.	Q	8	.	ENSP00000380453:R8Q	R	-	2	0	ERMN	157890417	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.684000	0.05173	-0.819000	0.04323	-1.151000	0.01829	CGG	.		0.443	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959	
KCNH7	90134	broad.mit.edu;bcgsc.ca	37	2	163302907	163302907	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:163302907G>A	ENST00000332142.5	-	7	1274	c.1175C>T	c.(1174-1176)aCa>aTa	p.T392I	KCNH7_ENST00000328032.4_Missense_Mutation_p.T385I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	392					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GATGCGTGGTGTCTGCAGTTT	0.403																																					p.T392I	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7-95	0			c.C1175T						.						88.0	84.0	86.0					2																	163302907		2203	4299	6502	SO:0001583	missense	90134	exon7			CGTGGTGTCTGCA	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1175C>T	2.37:g.163302907G>A	ENSP00000331727:p.Thr392Ile	188	1		129	6	NM_033272	0	0	0	0	0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386057	0.61956	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.94457	-3.43;-3.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.39245	1.2	0.80722	D	1	P;B	0.41947	0.766;0.01	B;B	0.43052	0.406;0.022	D	0.93288	0.6666	10	0.56958	D	0.05	.	19.4994	0.95086	0.0:0.0:1.0:0.0	.	385;392	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	392;385	ENSP00000331727:T392I;ENSP00000333781:T385I	ENSP00000333781:T385I	T	-	2	0	KCNH7	163011153	1.000000	0.71417	0.975000	0.42487	0.959000	0.62525	6.790000	0.75115	2.616000	0.88540	0.650000	0.86243	ACA	.		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
SCN3A	6328	broad.mit.edu;bcgsc.ca	37	2	165947568	165947568	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:165947568T>A	ENST00000360093.3	-	28	5586	c.5095A>T	c.(5095-5097)Atg>Ttg	p.M1699L	SCN3A_ENST00000409101.3_Missense_Mutation_p.M1650L|SCN3A_ENST00000540861.1_Missense_Mutation_p.M182L|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1699L|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1699					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCAGATCATGCTGTTGCCA	0.433																																					p.M1699L		.											.	SCN3A-141	0			c.A5095T						.						184.0	181.0	182.0					2																	165947568		2203	4300	6503	SO:0001583	missense	6328	exon28			AGATCATGCTGTT	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5095A>T	2.37:g.165947568T>A	ENSP00000353206:p.Met1699Leu	418	0		278	8	NM_006922	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	18.86	3.713979	0.68730	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.46567	1.45	0.58432	D	0.999995	P;P;D	0.54964	0.65;0.604;0.969	P;B;P	0.54140	0.743;0.433;0.623	D	0.98107	1.0418	10	0.87932	D	0	.	16.3071	0.82852	0.0:0.0:0.0:1.0	.	1650;1650;1699	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	L	1699;1699;1650;182	ENSP00000353206:M1699L;ENSP00000283254:M1699L;ENSP00000386726:M1650L;ENSP00000439920:M182L	ENSP00000283254:M1699L	M	-	1	0	SCN3A	165655814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.250000	0.74265	0.477000	0.44152	ATG	.		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN7A	6332	broad.mit.edu	37	2	167298121	167298121	+	Silent	SNP	G	G	A	rs181976611	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:167298121G>A	ENST00000409855.1	-	14	2068	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	648					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTACCAAACAGCTTCATGCCG	0.433													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19350	0.0		0.0	False		,,,				2504	0.0				p.L648L		.											.	SCN7A-67	0			c.C1942T						.	G		33,4373	36.8+/-68.6	0,33,2170	109.0	116.0	114.0		1942	-1.9	0.7	2		114	0,8600		0,0,4300	no	coding-synonymous	SCN7A	NM_002976.3		0,33,6470	AA,AG,GG		0.0,0.749,0.2537		648/1683	167298121	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	6332	exon14			CAAACAGCTTCAT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1942C>T	2.37:g.167298121G>A		288	0		234	4	NM_002976	0	0	0	0	0		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																			G|0.999;A|0.001		0.433	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
COL5A2	1290	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	189898939	189898939	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:189898939G>A	ENST00000374866.3	-	54	4631	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1453	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1453W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTCCATTCCGCTTCTGAAAT	0.403																																					p.R1453W		.											.	COL5A2-92	1	Substitution - Missense(1)	breast(1)	c.C4357T						.						82.0	73.0	76.0					2																	189898939		2203	4300	6503	SO:0001583	missense	1290	exon54			CATTCCGCTTCTG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4357C>T	2.37:g.189898939G>A	ENSP00000364000:p.Arg1453Trp	91	0		77	12	NM_000393	0	0	0	0	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861064	0.32884	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74737	-0.87	4.8	3.91	0.45181	Fibrillar collagen, C-terminal (4);	0.000000	0.43579	D	0.000547	D	0.84479	0.5481	M	0.77712	2.385	0.46336	D	0.998998	D;D	0.76494	0.997;0.999	P;D	0.64321	0.875;0.924	D	0.86989	0.2109	10	0.72032	D	0.01	.	14.7825	0.69776	0.0:0.0:0.8545:0.1455	.	1093;1453	Q5PR22;P05997	.;CO5A2_HUMAN	W	1453;1093	ENSP00000364000:R1453W	ENSP00000364000:R1453W	R	-	1	2	COL5A2	189607184	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.249000	0.78278	1.354000	0.45846	-0.188000	0.12872	CGG	.		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
SDPR	8436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	192700699	192700699	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:192700699C>T	ENST00000304141.4	-	2	1557	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GGGTCCCCATCGGAGCGCTCC	0.637																																					p.D410N		.											.	SDPR-92	0			c.G1228A						.						49.0	50.0	50.0					2																	192700699		2203	4300	6503	SO:0001583	missense	8436	exon2			CCCCATCGGAGCG	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1228G>A	2.37:g.192700699C>T	ENSP00000305675:p.Asp410Asn	31	0		53	46	NM_004657	0	0	2	2	0		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741892	0.49151	.	.	ENSG00000168497	ENST00000304141	T	0.66815	-0.23	4.79	2.97	0.34412	.	1.359500	0.04585	N	0.395729	T	0.63721	0.2535	L	0.50333	1.59	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.52305	-0.8593	10	0.66056	D	0.02	-0.5275	9.3715	0.38256	0.0:0.8554:0.0:0.1446	.	410	O95810	SDPR_HUMAN	N	410	ENSP00000305675:D410N	ENSP00000305675:D410N	D	-	1	0	SDPR	192408944	0.061000	0.20836	0.000000	0.03702	0.004000	0.04260	1.242000	0.32755	0.626000	0.30322	0.563000	0.77884	GAT	.		0.637	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
SPATS2L	26010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	201342532	201342532	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:201342532C>T	ENST00000358677.5	+	13	1702	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000360760.5_Silent_p.G416G|SPATS2L_ENST00000409385.1_Silent_p.G425G|SPATS2L_ENST00000409151.1_Silent_p.G493G|SPATS2L_ENST00000409718.1_Silent_p.G485G|SPATS2L_ENST00000451764.2_Silent_p.G485G|SPATS2L_ENST00000409988.3_Silent_p.G485G|SPATS2L_ENST00000409140.3_Silent_p.G485G|SPATS2L_ENST00000409755.3_Silent_p.G515G	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	485						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAAACAAAGGCGGTGCCAAAA	0.622																																					p.G485G		.											.	SPATS2L-48	0			c.C1455T						.						19.0	23.0	22.0					2																	201342532		1936	4126	6062	SO:0001819	synonymous_variant	26010	exon13			CAAAGGCGGTGCC	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1455C>T	2.37:g.201342532C>T		80	0		47	21	NM_001100423	0	0	5	7	2	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	CCDS46483.1																																																																																			.		0.622	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																					p.S43G		.											.	EEF1B2-227	4	Substitution - Missense(4)	endometrium(2)|lung(1)|kidney(1)	c.A127G						.						109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933	exon3			GTGTCCAGCCCAC	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly	166	1		138	6	NM_021121	0	0	80	81	1	A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC	.		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663	
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																					p.P45P		.											.	EEF1B2-227	5	Substitution - coding silent(5)	kidney(2)|endometrium(2)|lung(1)	c.G135A						.						109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933	exon3			CCCACCGCCTGCC	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A		169	1		138	6	NM_021121	0	0	67	67	0	A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	CCDS2367.1																																																																																			.		0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663	
MDH1B	130752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207615686	207615686	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:207615686G>A	ENST00000374412.3	-	6	1299	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	MDH1B_ENST00000449792.1_Missense_Mutation_p.R244C|MDH1B_ENST00000454776.2_Missense_Mutation_p.R342C|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	342					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAAACAGGGCGTGAATAATGA	0.328																																					p.R342C	Pancreas(76;29 1355 28675 37177 51207)	.											.	MDH1B-94	0			c.C1024T						.						97.0	98.0	98.0					2																	207615686		2203	4300	6503	SO:0001583	missense	130752	exon6			CAGGGCGTGAATA		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1024C>T	2.37:g.207615686G>A	ENSP00000363533:p.Arg342Cys	66	0		28	16	NM_001039845	0	0	0	0	0	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683474	0.29872	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.67865	-0.29;-0.29;-0.29	5.97	5.97	0.96955	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.313586	0.37136	N	0.002240	T	0.64583	0.2611	M	0.64404	1.975	0.80722	D	1	P;P	0.39737	0.685;0.598	B;B	0.31547	0.063;0.132	T	0.67511	-0.5652	10	0.49607	T	0.09	-8.2429	20.4387	0.99107	0.0:0.0:1.0:0.0	.	342;342	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	C	342;244;342	ENSP00000363533:R342C;ENSP00000416577:R244C;ENSP00000389916:R342C	ENSP00000363533:R342C	R	-	1	0	MDH1B	207323931	1.000000	0.71417	0.057000	0.19452	0.037000	0.13140	8.884000	0.92432	2.836000	0.97738	0.655000	0.94253	CGC	.		0.328	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
SMARCAL1	50485	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	217300105	217300105	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:217300105C>T	ENST00000357276.4	+	9	1860	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	SMARCAL1_ENST00000358207.5_Silent_p.N510N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	510	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATTGCATCAACGTCGTGGTGA	0.517									Schimke Immuno-Osseous Dysplasia																												p.N510N		.											.	SMARCAL1-293	0			c.C1530T						.						134.0	111.0	119.0					2																	217300105		2203	4300	6503	SO:0001819	synonymous_variant	50485	exon9	Familial Cancer Database	SIOD	CATCAACGTCGTG	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1530C>T	2.37:g.217300105C>T		194	2		190	167	NM_014140	0	0	0	3	3	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	2.371	-0.344293	0.05208	.	.	ENSG00000138375	ENST00000445153	.	.	.	5.84	-3.79	0.04320	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64939	-0.6289	4	.	.	.	-28.7227	15.4156	0.74966	0.0:0.2555:0.0:0.7445	.	.	.	.	M	68	.	.	T	+	2	0	SMARCAL1	217008350	0.541000	0.26417	0.938000	0.37757	0.183000	0.23260	-0.182000	0.09726	-0.792000	0.04480	-0.291000	0.09656	ACG	.		0.517	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
PLCD4	84812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	219498432	219498432	+	Silent	SNP	C	C	T	rs374723132	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:219498432C>T	ENST00000450993.2	+	11	1893	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Silent_p.Y518Y|PLCD4_ENST00000432688.1_Silent_p.Y550Y	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	518	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCACTTCTACGAGATATCAT	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		21639	0.0		0.001	False		,,,				2504	0.001				p.Y518Y		.											.	PLCD4-661	0			c.C1554T						.	C		0,3840		0,0,1920	102.0	94.0	97.0		1554	-2.7	1.0	2		97	1,8281		0,1,4140	no	coding-synonymous	PLCD4	NM_032726.3		0,1,6060	TT,TC,CC		0.0121,0.0,0.0082		518/763	219498432	1,12121	1920	4141	6061	SO:0001819	synonymous_variant	84812	exon11			CTTCTACGAGATA	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1554C>T	2.37:g.219498432C>T		89	1		67	58	NM_032726	0	0	0	3	3	Q53FS8	Silent	SNP	ENST00000450993.2	37	CCDS46516.1																																																																																			.		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		
SLC4A3	6508	bcgsc.ca	37	2	220505265	220505265	+	Silent	SNP	T	T	C	rs684428	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:220505265T>C	ENST00000358055.3	+	21	3903	c.3391T>C	c.(3391-3393)Ttg>Ctg	p.L1131L	SLC4A3_ENST00000373760.2_Silent_p.L1131L|SLC4A3_ENST00000317151.3_Silent_p.L1131L|SLC4A3_ENST00000373762.3_Silent_p.L1158L|SLC4A3_ENST00000273063.6_Silent_p.L1158L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1131	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCCAGCGTTTGTTGCTCAT	0.597													T|||	3460	0.690895	0.4251	0.8084	5008	,	,		16997	0.8105		0.8191	False		,,,				2504	0.7117				p.L1158L		.											.	SLC4A3-157	0			c.T3472C						.	T	,	2110,2296	576.2+/-384.2	503,1104,596	174.0	146.0	155.0		3391,3472	2.5	1.0	2	dbSNP_83	155	7202,1398	753.7+/-407.5	3030,1142,128	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	3533,2246,724	CC,CT,TT		16.2558,47.8892,28.4023	,	1131/1233,1158/1260	220505265	9312,3694	2203	4300	6503	SO:0001819	synonymous_variant	6508	exon21			CAGCGTTTGTTGC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3391T>C	2.37:g.220505265T>C		171	1		153	6	NM_201574	0	0	242	242	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																			T|0.289;C|0.711		0.597	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
SCG2	7857	ucsc.edu	37	2	224462285	224462285	+	Silent	SNP	C	C	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:224462285C>G	ENST00000305409.2	-	2	1948	c.1716G>C	c.(1714-1716)ggG>ggC	p.G572G		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCTTCGGGGGCCCCACAGGGA	0.483																																					p.G572G		.											.	SCG2-69	0			c.G1716C						.						83.0	84.0	84.0					2																	224462285		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			CGGGGGCCCCACA	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1716G>C	2.37:g.224462285C>G		30	0		15	1	NM_003469	0	0	16	20	4	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																			.		0.483	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
AGFG1	3267	hgsc.bcm.edu;bcgsc.ca	37	2	228384741	228384744	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAAA	GAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:228384741_228384744delGAAA	ENST00000310078.8	+	3	599_602	c.339_342delGAAA	c.(337-342)gtgaaafs	p.VK113fs	AGFG1_ENST00000409315.1_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000373671.3_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000409979.2_Frame_Shift_Del_p.VK113fs	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	113	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CACAAAAAGTGAAAGAGTTTCTAC	0.333																																					p.113_114del		.											.	AGFG1-228	0			c.339_342del						.																																			SO:0001589	frameshift_variant	3267	exon3			AAAAGTGAAAGAG		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.339_342delGAAA	2.37:g.228384741_228384744delGAAA	ENSP00000312059:p.Val113fs	180	2		102	91	NM_004504	0	0	0	0	0	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Frame_Shift_Del	DEL	ENST00000310078.8	37	CCDS2467.1																																																																																			.		0.333	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
UGT1A3	54659	hgsc.bcm.edu;bcgsc.ca	37	2	234638283	234638283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:234638283delT	ENST00000482026.1	+	1	530	c.511delT	c.(511-513)tttfs	p.F172fs	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Frame_Shift_Del_p.F172fs|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	172					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TCCTACTGTGTTTTTTTTGAG	0.443																																					p.F171fs		.											.	UGT1A3-24	0			c.511delT						.						185.0	188.0	187.0					2																	234638283		2203	4300	6503	SO:0001589	frameshift_variant	54659	exon1			ACTGTGTTTTTTT	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.511delT	2.37:g.234638283delT	ENSP00000418532:p.Phe172fs	330	0		256	207	NM_019093	0	0	0	0	0	B8K287	Frame_Shift_Del	DEL	ENST00000482026.1	37	CCDS2509.1																																																																																			T|0.007;-|0.993		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
KLHL30	377007	broad.mit.edu	37	2	239059485	239059485	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:239059485G>A	ENST00000409223.1	+	8	1623	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G488S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		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)		GCATGAGAATGGCGCGCTGGT	0.662																																					p.G506S		.											.	KLHL30-22	0			c.G1516A						.																																			SO:0001583	missense	377007	exon8			GAGAATGGCGCGC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1516G>A	2.37:g.239059485G>A	ENSP00000386389:p.Gly506Ser	25	0		211	5	NM_198582	0	0	0	0	0	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319342	0.81469	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.65364	-0.15;-0.15	4.79	4.79	0.61399	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70978	-0.4725	10	0.17832	T	0.49	.	16.7607	0.85511	0.0:0.0:1.0:0.0	.	506	Q0D2K2	KLH30_HUMAN	S	506;488	ENSP00000386389:G506S;ENSP00000302386:G488S	ENSP00000302386:G488S	G	+	1	0	KLHL30	238724224	1.000000	0.71417	0.941000	0.38009	0.140000	0.21249	9.106000	0.94253	2.492000	0.84095	0.655000	0.94253	GGC	.		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582	
ANO7	50636	bcgsc.ca	37	2	242157228	242157228	+	Silent	SNP	G	G	C	rs78605785	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:242157228G>C	ENST00000274979.8	+	20	2365	c.2262G>C	c.(2260-2262)ccG>ccC	p.P754P	ANO7_ENST00000402430.3_Silent_p.P753P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	754					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCGGCGCCCGGTGGCCGAGC	0.706													g|||	435	0.086861	0.0061	0.2637	5008	,	,		8027	0.1458		0.004	False		,,,				2504	0.0951				p.P754P		.											.	ANO7-92	0			c.G2262C						.						16.0	18.0	18.0					2																	242157228		2189	4288	6477	SO:0001819	synonymous_variant	50636	exon20			GCGCCCGGTGGCC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2262G>C	2.37:g.242157228G>C		7	0		115	115	NM_001001891	0	0	0	0	0	Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1	170	0.07783882783882784	10	0.02032520325203252	75	0.20718232044198895	80	0.13986013986013987	5	0.006596306068601583	g	12.05	1.822737	0.32237	.	.	ENSG00000146205	ENST00000451047	.	.	.	2.69	-5.26	0.02772	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.28038	-1.0056	3	.	.	.	.	5.1019	0.14764	0.1079:0.4916:0.289:0.1115	.	.	.	.	R	67	.	.	G	+	1	0	ANO7	241805901	0.000000	0.05858	0.983000	0.44433	0.985000	0.73830	-4.591000	0.00211	-0.621000	0.05633	0.298000	0.19748	GGT	C|0.028;G|0.842;T|0.130		0.706	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
RTP5	285093	hgsc.bcm.edu	37	2	242814035	242814035	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:242814035G>A	ENST00000343216.3	+	2	356	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_173821.2	NP_776182.2																					GCCCCCGGGCGAGCAGCCCTT	0.726																																					p.E110K		.											.	.	0			c.G328A						.																																			SO:0001583	missense	285093	exon2			CCGGGCGAGCAGC																												ENST00000343216.3:c.328G>A	2.37:g.242814035G>A	ENSP00000345374:p.Glu110Lys	0	0		13	10	NM_173821	0	0	0	0	0		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.525	0.657418	0.14645	.	.	ENSG00000188011	ENST00000343216	T	0.22945	1.93	2.67	0.813	0.18749	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	B	0.42087	0.375	T	0.13415	-1.0510	9	0.59425	D	0.04	-13.5474	4.7553	0.13080	0.3144:0.0:0.6856:0.0	.	110	Q14D33	CB085_HUMAN	K	110	ENSP00000345374:E110K	ENSP00000345374:E110K	E	+	1	0	C2orf85	242462708	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.060000	0.11712	0.209000	0.20645	0.450000	0.29827	GAG	.		0.726	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1		
PDYN	5173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	1961122	1961122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:1961122G>T	ENST00000217305.2	-	4	837	c.612C>A	c.(610-612)taC>taA	p.Y204*	PDYN_ENST00000540134.1_Nonsense_Mutation_p.Y204*|PDYN_ENST00000539905.1_Nonsense_Mutation_p.Y204*|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	204					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGCGTTTGTACAGGTCCT	0.587																																					p.Y204X		.											.	PDYN-92	0			c.C612A						.						103.0	114.0	110.0					20																	1961122		2203	4300	6503	SO:0001587	stop_gained	5173	exon4			GCGTTTGTACAGG		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.612C>A	20.37:g.1961122G>T	ENSP00000217305:p.Tyr204*	154	0		88	83	NM_001190898	0	0	0	0	0	A8K0Q3	Nonsense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071826	0.93950	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	.	.	.	5.0	0.861	0.19048	.	0.138304	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-16.2348	4.6388	0.12538	0.3516:0.1535:0.4949:0.0	.	.	.	.	X	204	.	ENSP00000217305:Y204X	Y	-	3	2	PDYN	1909122	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	0.488000	0.22371	0.317000	0.23160	0.313000	0.20887	TAC	.		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
FASTKD5	60493	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	3127458	3127458	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:3127458C>T	ENST00000380266.3	-	2	2580	c.2259G>A	c.(2257-2259)gcG>gcA	p.A753A	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	753	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CATGAAGAAACGCCAACTTTT	0.478																																					p.A753A		.											.	FASTKD5-90	0			c.G2259A						.						120.0	118.0	119.0					20																	3127458		2203	4300	6503	SO:0001819	synonymous_variant	60493	exon2			AAGAAACGCCAAC	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.2259G>A	20.37:g.3127458C>T		168	2		133	119	NM_021826	0	0	0	25	25	Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	CCDS13048.1																																																																																			.		0.478	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826	
C20orf27	54976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3734755	3734755	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:3734755C>T	ENST00000379772.3	-	6	1285	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	C20orf27_ENST00000217195.8_Missense_Mutation_p.A184T	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	159										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TCCAGCTCGGCGCCCACACAC	0.682																																					p.A184T		.											.	C20orf27-90	0			c.G550A						.						55.0	44.0	48.0					20																	3734755		2203	4300	6503	SO:0001583	missense	54976	exon6			GCTCGGCGCCCAC	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.475G>A	20.37:g.3734755C>T	ENSP00000369097:p.Ala159Thr	44	0		211	55	NM_001039140	0	0	19	23	4	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556725	0.65425	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.32466	0.0830	N	0.17474	0.49	0.40018	D	0.975373	B;B	0.32800	0.107;0.385	B;B	0.25884	0.013;0.064	T	0.22208	-1.0223	8	0.44086	T	0.13	-5.5331	9.4974	0.38997	0.0:0.907:0.0:0.093	.	159;184	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	T	159;184;159;118	.	ENSP00000217195:A184T	A	-	1	0	C20orf27	3682755	0.955000	0.32602	0.974000	0.42286	0.997000	0.91878	2.312000	0.43726	2.666000	0.90696	0.655000	0.94253	GCC	.		0.682	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140	
ESF1	51575	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	13695562	13695563	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:13695562_13695563delTT	ENST00000202816.1	-	14	2621_2622	c.2514_2515delAA	c.(2512-2517)aaaacafs	p.KT838fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	838	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AACTGCTCTGTTTTGGTTTTTA	0.297																																					p.838_839del		.											.	ESF1-91	0			c.2514_2515del						.																																			SO:0001589	frameshift_variant	51575	exon14			GCTCTGTTTTGGT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2514_2515delAA	20.37:g.13695564_13695565delTT	ENSP00000202816:p.Lys838fs	75	0		46	40	NM_001276380	0	0	0	0	0	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Del	DEL	ENST00000202816.1	37	CCDS13117.1																																																																																			.		0.297	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
DZANK1	55184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	18424085	18424085	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:18424085C>T	ENST00000358866.6	-	7	675	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	DZANK1_ENST00000357236.4_Missense_Mutation_p.R104Q|DZANK1_ENST00000329494.5_Missense_Mutation_p.R220Q|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.R218Q			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	218							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATCTGATGGCCGGGGGGCAAG	0.542																																					p.R218Q		.											.	.	0			c.G653A						.						20.0	21.0	21.0					20																	18424085		1870	4032	5902	SO:0001583	missense	55184	exon8			GATGGCCGGGGGG	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.653G>A	20.37:g.18424085C>T	ENSP00000351734:p.Arg218Gln	233	0		215	199	NM_001099407	0	0	0	0	0	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.986738|2.986738	0.53934|0.53934	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27	5.49|5.49	3.57|3.57	0.40892|0.40892	.|.	.|0.095474	.|0.85682	.|D	.|0.000000	T|T	0.69169|0.69169	0.3081|0.3081	M|M	0.68317|0.68317	2.08|2.08	0.43982|0.43982	D|D	0.996674|0.996674	.|D;P;D	.|0.89917	.|0.999;0.825;1.0	.|D;B;D	.|0.63877	.|0.919;0.339;0.911	T|T	0.70648|0.70648	-0.4814|-0.4814	5|10	.|0.87932	.|D	.|0	-9.1595|-9.1595	10.0958|10.0958	0.42475|0.42475	0.0:0.8363:0.0:0.1637|0.0:0.8363:0.0:0.1637	.|.	.|237;104;218	.|B7Z631;Q9NVP4-4;Q9NVP4	.|.;.;DZAN1_HUMAN	S|Q	17|45;218;220;44;44;104	.|ENSP00000366857:R45Q;ENSP00000262547:R218Q;ENSP00000328866:R220Q;ENSP00000349774:R104Q	.|ENSP00000262547:R218Q	G|R	-|-	1|2	0|0	C20orf12|C20orf12	18372085|18372085	1.000000|1.000000	0.71417|0.71417	0.443000|0.443000	0.26883|0.26883	0.128000|0.128000	0.20619|0.20619	5.636000|5.636000	0.67848|0.67848	0.809000|0.809000	0.34255|0.34255	0.650000|0.650000	0.86243|0.86243	GGC|CGG	.		0.542	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
CST2	1470	bcgsc.ca	37	20	23805918	23805918	+	Nonsense_Mutation	SNP	G	G	A	rs6049157	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:23805918G>A	ENST00000304725.2	-	2	341	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	91					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CATATGGTTCGGCCCACCTCT	0.552													g|||	54	0.0107827	0.0401	0.0	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.001				p.R91X	Pancreas(193;496 3017 22514 29918)	.											.	CST2-90	0			c.C271T						.	G	stop/ARG	146,4260	101.6+/-140.2	1,144,2058	365.0	275.0	306.0		271	1.3	0.5	20	dbSNP_114	306	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CST2	NM_001322.2		1,145,6357	AA,AG,GG		0.0116,3.3137,1.1302		91/142	23805918	147,12859	2203	4300	6503	SO:0001587	stop_gained	1470	exon2			TGGTTCGGCCCAC	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.271C>T	20.37:g.23805918G>A	ENSP00000307540:p.Arg91*	372	1		332	9	NM_001322	0	0	0	0	0	Q9UCQ7	Nonsense_Mutation	SNP	ENST00000304725.2	37	CCDS13161.1	25	0.011446886446886446	25	0.0508130081300813	0	0.0	0	0.0	0	0.0	G	18.26	3.585602	0.66105	0.033137	1.16E-4	ENSG00000170369	ENST00000304725	.	.	.	2.36	1.31	0.21738	.	0.140539	0.47093	U	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0602	0.19835	0.0:0.0:0.6958:0.3042	rs6049157;rs6049157	.	.	.	X	91	.	ENSP00000307540:R91X	R	-	1	2	CST2	23753918	0.552000	0.26505	0.453000	0.27007	0.269000	0.26545	0.462000	0.21956	0.275000	0.22094	0.306000	0.20318	CGA	G|0.988;A|0.012		0.552	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2		
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:26061817T>C	ENST00000376398.2	+	0	837					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468																																					.		.											.	.	2	Substitution - Missense(2)	endometrium(2)	.						.																																					284800	.			TTCTCCTGCTTAG	AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061817T>C		66	1		60	4	.	0	0	0	0	0	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37		.	.	.	.	.	.	.	.	.	.	N	8.475	0.858516	0.17178	.	.	ENSG00000125804	ENST00000376398;ENST00000246000	.	.	.	0.368	0.368	0.16146	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.31219	N	0.697674	.	.	.	.	.	.	T	0.56932	-0.7897	4	0.87932	D	0	.	.	.	.	.	.	.	.	R	57	.	ENSP00000246000:C57R	C	+	1	0	FAM182A	26009817	1.000000	0.71417	0.456000	0.27044	0.471000	0.32888	0.691000	0.25467	0.379000	0.24794	0.104000	0.15600	TGC	.		0.468	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2		
PLAGL2	5326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	30785207	30785207	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:30785207C>T	ENST00000246229.4	-	3	803	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	180					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTACCCGGCGTGAGTGGGC	0.622																																					p.R180H	Colon(163;15 1893 11280 16306 47518)	.											.	PLAGL2-651	0			c.G539A						.						25.0	22.0	23.0					20																	30785207		2202	4300	6502	SO:0001583	missense	5326	exon3			ACCCGGCGTGAGT		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.539G>A	20.37:g.30785207C>T	ENSP00000246229:p.Arg180His	71	0		95	14	NM_002657	0	0	0	0	0	A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149447	0.78001	.	.	ENSG00000126003	ENST00000246229	T	0.09630	2.96	5.13	5.13	0.70059	Zinc finger, C2H2 (1);	0.054281	0.64402	D	0.000001	T	0.27313	0.0670	L	0.48174	1.505	0.50632	D	0.999884	D	0.76494	0.999	D	0.69307	0.963	T	0.00250	-1.1878	10	0.45353	T	0.12	.	18.7617	0.91855	0.0:1.0:0.0:0.0	.	180	Q9UPG8	PLAL2_HUMAN	H	180	ENSP00000246229:R180H	ENSP00000246229:R180H	R	-	2	0	PLAGL2	30248868	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.675000	0.91044	0.555000	0.69702	CGC	.		0.622	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657	
ASXL1	171023	broad.mit.edu	37	20	31022442	31022442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:31022442delG	ENST00000375687.4	+	13	2351	c.1927delG	c.(1927-1929)gggfs	p.G646fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G641fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	646	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G643fs*15(3)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGCCATCGGAGGGGGGGGTGG	0.692			"""F, N, Mis"""		"""MDS, CMML"""																																p.G643fs		.		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1-2057	11	Deletion - Frameshift(4)|Complex - deletion inframe(3)|Insertion - Frameshift(3)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(11)	c.1927delG						.			114,54,3462		18,0,78,3,48,1668	6.0	8.0	7.0			4.4	1.0	20		7	161,165,6938		9,0,143,5,155,3320	no	codingComplex	ASXL1	NM_015338.5		27,0,221,8,203,4988	A1A1,A1A2,A1R,A2A2,A2R,RR		4.4879,4.6281,4.5346			31022442	275,219,10400	2008	3998	6006	SO:0001589	frameshift_variant	171023	exon12			ATCGGAGGGGGGG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1927delG	20.37:g.31022442delG	ENSP00000364839:p.Gly646fs	4	0		29	22	NM_015338	0	0	0	0	0	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	CCDS13201.1																																																																																			.		0.692	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
LOC149950	149950	broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	31189498	31189498	+	Splice_Site	SNP	C	C	T	rs377370278	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:31189498C>T	ENST00000375670.1	+	2	262	c.30C>T	c.(28-30)aaC>aaT	p.N10N	RP11-410N8.4_ENST00000375671.3_Splice_Site_p.N10N																							AGCGTGCAAACGTAAGGACTC	0.532																																					.		.											.	.	0			.						.																																			SO:0001630	splice_region_variant	0	.			TGCAAACGTAAGG																												ENST00000375670.1:c.30+1C>T	20.37:g.31189498C>T		157	0		107	41	.	0	0	0	0	0		RNA	SNP	ENST00000375670.1	37																																																																																				.		0.532	RP11-410N8.4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078639.1		Silent
EPB41L1	2036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34778675	34778675	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:34778675G>A	ENST00000338074.2	+	11	1417	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	EPB41L1_ENST00000202028.5_Missense_Mutation_p.R357H|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R419H|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R357H|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R322H|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R388H	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	419					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TTCTTTGAGCGTTCTTCCAGC	0.607																																					p.R419H		.											.	EPB41L1-93	0			c.G1256A						.						60.0	53.0	55.0					20																	34778675		2203	4300	6503	SO:0001583	missense	2036	exon12			TTGAGCGTTCTTC	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1256G>A	20.37:g.34778675G>A	ENSP00000337168:p.Arg419His	59	0		56	47	NM_001258329	0	0	1	24	23	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393635	0.96009	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.48	5.48	0.80851	FERM adjacent (FA) (1);	.	.	.	.	D	0.98337	0.9448	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0	D;D;D;D;P;D	0.97110	1.0;1.0;1.0;0.998;0.807;0.998	D	0.99331	1.0909	9	0.87932	D	0	.	17.9268	0.88986	0.0:0.0:1.0:0.0	.	419;419;388;322;322;357	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	H	357;322;419;322;357;388;419;419	ENSP00000202028:R357H;ENSP00000363061:R322H;ENSP00000399214:R357H;ENSP00000363057:R388H;ENSP00000337168:R419H;ENSP00000363052:R419H	ENSP00000202028:R357H	R	+	2	0	EPB41L1	34242089	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	CGT	.		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
PLCG1	5335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	39793679	39793679	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:39793679G>A	ENST00000373271.1	+	13	1729	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	PLCG1_ENST00000244007.3_Missense_Mutation_p.V442M|PLCG1_ENST00000373272.2_Missense_Mutation_p.V442M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CACCAAGCCCGTGGAGATCTC	0.572																																					p.V442M		.											.	PLCG1-911	0			c.G1324A						.						74.0	60.0	65.0					20																	39793679		2203	4300	6503	SO:0001583	missense	5335	exon13			AAGCCCGTGGAGA	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1324G>A	20.37:g.39793679G>A	ENSP00000362368:p.Val442Met	169	0		124	57	NM_182811	0	0	5	14	9	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559740	0.86335	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.54279	0.58;0.58;0.58	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.67953	2.075	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.996	P;P;P	0.62560	0.846;0.904;0.904	T	0.72127	-0.4384	10	0.59425	D	0.04	.	18.2126	0.89876	0.0:0.0:1.0:0.0	.	442;442;442	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	M	442	ENSP00000244007:V442M;ENSP00000362368:V442M;ENSP00000362369:V442M	ENSP00000244007:V442M	V	+	1	0	PLCG1	39227093	1.000000	0.71417	0.972000	0.41901	0.914000	0.54420	9.263000	0.95617	2.539000	0.85634	0.655000	0.94253	GTG	.		0.572	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
CHD6	84181	broad.mit.edu	37	20	40074318	40074318	+	Silent	SNP	G	G	A	rs139410145	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:40074318G>A	ENST00000373233.3	-	25	4041	c.3864C>T	c.(3862-3864)ggC>ggT	p.G1288G	CHD6_ENST00000309279.7_Silent_p.G771G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1288					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)			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)				GCTTGAACACGCCAATGAGAA	0.522																																					p.G1288G		.											.	CHD6-238	0			c.C3864T						.	G		0,4406		0,0,2203	130.0	107.0	115.0		3864	-5.6	0.9	20	dbSNP_134	115	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CHD6	NM_032221.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		1288/2716	40074318	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84181	exon25			GAACACGCCAATG	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.3864C>T	20.37:g.40074318G>A		139	0		126	5	NM_032221	0	0	2	2	0	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341862	0.24339	0.0	5.81E-4	ENSG00000124177	ENST00000440697	.	.	.	5.91	-5.55	0.02536	.	.	.	.	.	T	0.48607	0.1509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51116	-0.8746	4	.	.	.	-19.1586	7.7363	0.28817	0.5753:0.0:0.1641:0.2606	.	.	.	.	V	474	.	.	A	-	2	0	CHD6	39507732	0.008000	0.16893	0.940000	0.37924	0.997000	0.91878	-0.915000	0.04033	-0.709000	0.05008	0.655000	0.94253	GCG	G|1.000;A|0.000		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
MYBL2	4605	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	42328526	42328526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:42328526C>T	ENST00000217026.4	+	7	920	c.793C>T	c.(793-795)Cga>Tga	p.R265*	MYBL2_ENST00000396863.4_Nonsense_Mutation_p.R241*	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	265					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)			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)			GGACGCAGTGCGAACACCAGA	0.572																																					p.R265X		.											.	MYBL2-415	0			c.C793T						.						79.0	64.0	69.0					20																	42328526		2203	4300	6503	SO:0001587	stop_gained	4605	exon7			GCAGTGCGAACAC		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.793C>T	20.37:g.42328526C>T	ENSP00000217026:p.Arg265*	191	2		141	135	NM_002466	0	0	0	0	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Nonsense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987531	0.74589	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	.	.	.	4.77	-2.65	0.06095	.	1.416890	0.04658	N	0.408355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	0.028	1.9219	0.03309	0.1274:0.433:0.1249:0.3146	.	.	.	.	X	241;265	.	ENSP00000217026:R265X	R	+	1	2	MYBL2	41761940	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	-0.203000	0.10251	-0.142000	0.14014	CGA	.		0.572	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
CTSA	5476	broad.mit.edu	37	20	44526395	44526395	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:44526395G>A	ENST00000372459.2	+	12	1397	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	CTSA_ENST00000191018.5_Missense_Mutation_p.A402T|CTSA_ENST00000372484.3_Missense_Mutation_p.A420T|CTSA_ENST00000354880.5_Missense_Mutation_p.A403T			P10619	PPGB_HUMAN	cathepsin A	402					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTAGACATGGCCTGCAATTT	0.502																																					p.A420T		.											.	CTSA-91	0			c.G1258A						.						113.0	111.0	111.0					20																	44526395		2203	4300	6503	SO:0001583	missense	5476	exon13			GACATGGCCTGCA	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.1204G>A	20.37:g.44526395G>A	ENSP00000361537:p.Ala402Thr	154	0		122	5	NM_000308	0	0	417	431	14	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473525	0.96274	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018	D;D;D	0.93247	-3.19;-3.19;-3.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.70716	0.97;0.923;0.953	D	0.96016	0.9005	10	0.49607	T	0.09	-30.517	19.5245	0.95199	0.0:0.0:1.0:0.0	.	402;402;419	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	T	403;420;402	ENSP00000346952:A403T;ENSP00000361562:A420T;ENSP00000191018:A402T	ENSP00000191018:A402T	A	+	1	0	CTSA	43959802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.488000	0.97947	2.608000	0.88229	0.655000	0.94253	GCC	.		0.502	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308	
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	61522425	61522425	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:61522425C>T	ENST00000266070.4	-	15	3753	c.3428G>A	c.(3427-3429)cGt>cAt	p.R1143H	DIDO1_ENST00000395335.2_Missense_Mutation_p.R1143H|DIDO1_ENST00000395343.1_Missense_Mutation_p.R1143H|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1143H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1143					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAAGCGGCCACGGCTGCTGAA	0.562																																					p.R1143H	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G3428A						.						99.0	98.0	98.0					20																	61522425		2203	4300	6503	SO:0001583	missense	11083	exon15			CGGCCACGGCTGC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3428G>A	20.37:g.61522425C>T	ENSP00000266070:p.Arg1143His	186	0		167	9	NM_080797	0	0	2	2	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559035	0.96514	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.26067	2.12;2.12;1.76;1.76	5.24	5.24	0.73138	Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.43110	D	0.000609	T	0.55226	0.1907	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59568	-0.7430	10	0.87932	D	0	-16.2475	19.1954	0.93686	0.0:1.0:0.0:0.0	.	1143;1143	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	1143	ENSP00000266070:R1143H;ENSP00000378752:R1143H;ENSP00000378749:R1143H;ENSP00000378744:R1143H	ENSP00000266070:R1143H	R	-	2	0	DIDO1	60992870	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	7.624000	0.83124	2.601000	0.87937	0.655000	0.94253	CGT	.		0.562	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SCAF4	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	33065781	33065781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:33065781G>A	ENST00000286835.7	-	12	1721	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R447*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R432*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	447						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATCTAGATCGCCTCCTTTTT	0.433																																					p.R447X		.											.	SCAF4-90	0			c.C1339T						.						84.0	61.0	69.0					21																	33065781		2203	4300	6503	SO:0001587	stop_gained	57466	exon12			TAGATCGCCTCCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1339C>T	21.37:g.33065781G>A	ENSP00000286835:p.Arg447*	88	0		72	17	NM_020706	0	0	5	5	0	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	42	9.761584	0.99257	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.2	3.08	0.35506	.	0.073052	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8166	14.9688	0.71217	0.0:0.0:0.6477:0.3523	.	.	.	.	X	432;447;447	.	ENSP00000286835:R447X	R	-	1	2	SCAF4	31987652	0.922000	0.31269	0.958000	0.39756	0.995000	0.86356	1.230000	0.32612	1.109000	0.41680	0.557000	0.71058	CGA	.		0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
ITSN1	6453	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	35208767	35208767	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:35208767C>T	ENST00000381318.3	+	29	3780	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	ITSN1_ENST00000399349.1_Silent_p.Y1088Y|ITSN1_ENST00000399353.1_Silent_p.Y1122Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.Y1093Y|ITSN1_ENST00000399352.1_Silent_p.Y1159Y|ITSN1_ENST00000437442.2_Silent_p.Y1159Y|ITSN1_ENST00000399367.3_Silent_p.Y1159Y|ITSN1_ENST00000381285.4_Silent_p.Y1164Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381291.4_Silent_p.Y1164Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1164	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTGGGATGTACGACTACACCG	0.577																																					p.Y1164Y		.											.	ITSN1-94	0			c.C3492T						.						62.0	52.0	55.0					21																	35208767		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon29			GATGTACGACTAC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3492C>T	21.37:g.35208767C>T		216	1		170	76	NM_001001132	0	0	3	5	2	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.		0.577	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
SIM2	6493	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	38098480	38098480	+	Missense_Mutation	SNP	G	G	A	rs375950373		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:38098480G>A	ENST00000290399.6	+	6	1217	c.604G>A	c.(604-606)Gac>Aac	p.D202N	SIM2_ENST00000430056.3_Missense_Mutation_p.D202N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	202					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTCCCTGTACGACTCCTGCTA	0.577																																					p.D202N		.											.	SIM2-90	0			c.G604A						.	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	130.0	119.0	123.0		604,604	5.4	1.0	21		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SIM2	NM_005069.3,NM_009586.2	23,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	202/668,202/571	38098480	2,13004	2203	4300	6503	SO:0001583	missense	6493	exon6			CTGTACGACTCCT		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.604G>A	21.37:g.38098480G>A	ENSP00000290399:p.Asp202Asn	112	0		117	9	NM_005069	0	0	0	0	0	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461033|4.461033	0.84317|0.84317	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.71579|.	-0.58;-0.58|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.143963|.	0.64402|.	D|.	0.000008|.	T|T	0.71863|0.71863	0.3390|0.3390	L|L	0.54323|0.54323	1.7|1.7	0.46901|0.46901	D|D	0.999244|0.999244	D;D|.	0.76494|.	0.999;0.998|.	P;P|.	0.61874|.	0.895;0.883|.	T|T	0.67795|0.67795	-0.5578|-0.5578	10|5	0.62326|.	D|.	0.03|.	.|.	19.6391|19.6391	0.95749|0.95749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	N|Q	202|139	ENSP00000290399:D202N;ENSP00000404176:D202N|.	ENSP00000290399:D202N|.	D|R	+|+	1|2	0|0	SIM2|SIM2	37020350|37020350	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	9.231000|9.231000	0.95317|0.95317	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAC|CGA	.		0.577	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586	
RIPPLY3	53820	ucsc.edu;bcgsc.ca;mdanderson.org	37	21	38390297	38390297	+	Silent	SNP	C	C	T	rs138756839	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:38390297C>T	ENST00000329553.2	+	4	573	c.363C>T	c.(361-363)tcC>tcT	p.S121S	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	121					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AGTCTGCTTCCGAAGCTGAAG	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17142	0.0		0.001	False		,,,				2504	0.0				p.S121S		.											.	DSCR6-153	0			c.C363T						.	C		2,4404	4.2+/-10.8	0,2,2201	44.0	42.0	43.0		363	-9.5	0.0	21	dbSNP_134	43	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	DSCR6	NM_018962.2		0,19,6484	TT,TC,CC		0.1977,0.0454,0.1461		121/191	38390297	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	53820	exon4			TGCTTCCGAAGCT	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.363C>T	21.37:g.38390297C>T		55	0		43	36	NM_018962	0	0	0	0	0		Silent	SNP	ENST00000329553.2	37	CCDS13648.1																																																																																			C|0.999;T|0.001		0.587	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1		
BRWD1	54014	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	40667746	40667746	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:40667746delT	ENST00000333229.2	-	7	859	c.532delA	c.(532-534)atgfs	p.M178fs	BRWD1_ENST00000380800.3_Frame_Shift_Del_p.M178fs|BRWD1_ENST00000342449.3_Frame_Shift_Del_p.M178fs|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	178					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTGTGCATTTTTATATGC	0.358																																					p.M178fs	Melanoma(170;988 1986 4794 16843 39731)	.											.	BRWD1-94	0			c.532delA						.						126.0	121.0	122.0					21																	40667746		2203	4300	6503	SO:0001589	frameshift_variant	54014	exon7			TGTGCATTTTTAT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.532delA	21.37:g.40667746delT	ENSP00000330753:p.Met178fs	104	0		93	83	NM_018963	0	0	0	0	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	ENST00000333229.2	37	CCDS13662.1																																																																																			.		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
B3GALT5	10317	ucsc.edu;bcgsc.ca	37	21	41033159	41033159	+	Missense_Mutation	SNP	G	G	A	rs144752439		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:41033159G>A	ENST00000380620.4	+	5	1265	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.V225M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V225M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V225M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	225					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TTCTGGCGACGTGGCGAGTCA	0.522																																					p.V225M		.											.	B3GALT5-91	0			c.G673A						.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	85.0	86.0		673,673,673,673,673	3.3	0.1	21	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/311,225/311,225/311,225/311,225/311	41033159	1,13005	2203	4300	6503	SO:0001583	missense	10317	exon3			GGCGACGTGGCGA	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.673G>A	21.37:g.41033159G>A	ENSP00000369994:p.Val225Met	74	2		67	59	NM_033170	0	0	0	0	0	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947287	0.34377	2.27E-4	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.49	3.35	0.38373	.	0.114937	0.36555	N	0.002538	T	0.61073	0.2318	M	0.72576	2.205	0.42482	D	0.992867	D	0.89917	1.0	D	0.76071	0.987	T	0.65639	-0.6119	10	0.59425	D	0.04	.	12.7459	0.57281	0.1557:0.0:0.8443:0.0	.	225	Q9Y2C3	B3GT5_HUMAN	M	225	ENSP00000369994:V225M;ENSP00000369992:V225M;ENSP00000343318:V225M;ENSP00000381699:V225M	ENSP00000343318:V225M	V	+	1	0	B3GALT5	39955029	0.643000	0.27269	0.114000	0.21550	0.059000	0.15707	0.976000	0.29462	1.324000	0.45282	0.655000	0.94253	GTG	G|1.000;A|0.000		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45736189	45736189	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:45736189C>T	ENST00000349048.4	+	8	865	c.810C>T	c.(808-810)aaC>aaT	p.N270N	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Silent_p.N317N	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	270	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TTGACCGCAACGGGAAGCCCA	0.647																																					p.N270N		.											.	PFKL-251	0			c.C810T						.						142.0	105.0	118.0					21																	45736189		2203	4300	6503	SO:0001819	synonymous_variant	5211	exon8			CCGCAACGGGAAG		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.810C>T	21.37:g.45736189C>T		97	0		189	65	NM_002626	0	0	9	12	3	Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	CCDS33582.1																																																																																			.		0.647	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45744758	45744758	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:45744758C>T	ENST00000349048.4	+	18	1890	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	PFKL_ENST00000403390.1_Missense_Mutation_p.T659M	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	612	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GAGCACATGACGGAGAAGATG	0.672																																					p.T612M		.											.	PFKL-251	0			c.C1835T						.						39.0	34.0	36.0					21																	45744758		2193	4297	6490	SO:0001583	missense	5211	exon18			ACATGACGGAGAA		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1835C>T	21.37:g.45744758C>T	ENSP00000269848:p.Thr612Met	76	0		143	83	NM_002626	0	0	30	46	16	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588016	0.46110	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.76839	-1.05;-1.05	5.04	3.23	0.37069	Phosphofructokinase domain (2);	0.055780	0.64402	D	0.000001	T	0.80407	0.4617	L	0.57130	1.785	0.47407	D	0.999417	D;D	0.57571	0.971;0.98	P;P	0.56960	0.75;0.81	T	0.76293	-0.3012	10	0.33141	T	0.24	-25.0441	10.0001	0.41924	0.0:0.8317:0.0:0.1683	.	612;659	P17858;P17858-2	K6PL_HUMAN;.	M	612;405;659	ENSP00000269848:T612M;ENSP00000384038:T659M	ENSP00000269848:T612M	T	+	2	0	PFKL	44569186	1.000000	0.71417	0.580000	0.28601	0.924000	0.55760	4.520000	0.60524	0.535000	0.28714	0.591000	0.81541	ACG	.		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																					.		.											.	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	.						.		,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675	.			GCCCCCCTGCTGC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	11	0		54	14	.	0	0	0	0	0	Q0VDJ8|Q70LJ2	Splice_Site	DEL	ENST00000380102.2	37																																																																																				.		0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
LINC00205	257103	broad.mit.edu	37	21	46713303	46713303	+	lincRNA	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:46713303delG	ENST00000433465.1	+	0	104				BX322557.10_ENST00000454115.2_RNA			P59089	CU086_HUMAN	long intergenic non-protein coding RNA 205																		CTTCGCGGAAGGGGGCTGGCC	0.627																																					.		.											.	.	0			.						.																																					0	.			GCGGAAGGGGGCT	AF426264		21q22.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000223768	ENSG00000223768		"""Long non-coding RNAs"""	16420	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 86"", ""non-protein coding RNA 205"""	C21orf86, NCRNA00205		12036297	Standard			Approved			P59089	OTTHUMG00000090403		21.37:g.46713303delG		117	0		117	9	.	0	0	0	0	0		RNA	DEL	ENST00000433465.1	37																																																																																				.		0.627	LINC00205-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000206823.2		
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	46900432	46900432	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:46900432C>T	ENST00000359759.4	+	11	2716	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	COL18A1_ENST00000400337.2_Missense_Mutation_p.R484W|COL18A1_ENST00000355480.5_Missense_Mutation_p.R664W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	899	Nonhelical region 3 (NC3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGGCCCTGCGGGTGAGTGG	0.642																																					p.R664W		.											.	COL18A1-90	0			c.C1990T						.						46.0	54.0	51.0					21																	46900432		2045	4168	6213	SO:0001583	missense	80781	exon11			GCCCTGCGGGTGA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2695C>T	21.37:g.46900432C>T	ENSP00000352798:p.Arg899Trp	70	0		50	5	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	C	12.39	1.924218	0.34002	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.91686	-2.87;-2.89;-2.77	3.8	1.74	0.24563	.	0.339373	0.25729	N	0.028682	D	0.94358	0.8186	M	0.84082	2.675	0.31515	N	0.663066	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.60286	0.749;0.872;0.796	D	0.92404	0.5932	10	0.72032	D	0.01	.	8.5985	0.33729	0.5497:0.4503:0.0:0.0	.	899;664;484	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	W	484;484;664;899;899	ENSP00000383191:R484W;ENSP00000347665:R664W;ENSP00000352798:R899W	ENSP00000347665:R664W	R	+	1	2	COL18A1	45724860	0.884000	0.30299	0.093000	0.20910	0.285000	0.27093	1.466000	0.35310	0.133000	0.18654	0.555000	0.69702	CGG	.		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
PRMT2	3275	broad.mit.edu;bcgsc.ca	37	21	48068519	48068519	+	Silent	SNP	G	G	A	rs150978784	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:48068519G>A	ENST00000397637.1	+	5	1431	c.477G>A	c.(475-477)gcG>gcA	p.A159A	PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000355680.3_Silent_p.A159A|PRMT2_ENST00000397628.1_Silent_p.A159A|PRMT2_ENST00000440086.1_Silent_p.A159A|PRMT2_ENST00000458387.2_Silent_p.A159A|PRMT2_ENST00000397638.2_Silent_p.A159A|PRMT2_ENST00000334494.4_Silent_p.A159A|PRMT2_ENST00000451211.2_Silent_p.A159A|PRMT2_ENST00000291705.6_Silent_p.A159A			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	159	Interaction with ESR1.|Interaction with RB1. {ECO:0000250}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CACACTATGCGCGGCCTAGAG	0.577													G|||	4	0.000798722	0.0	0.0	5008	,	,		19489	0.003		0.0	False		,,,				2504	0.001				p.A159A		.											.	PRMT2-91	0			c.G477A						.						142.0	128.0	133.0					21																	48068519		2203	4300	6503	SO:0001819	synonymous_variant	3275	exon5			CTATGCGCGGCCT	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.477G>A	21.37:g.48068519G>A		112	0		90	5	NM_001242864	0	0	16	18	2	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	CCDS13737.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.359	0.624467	0.14193	.	.	ENSG00000160310	ENST00000379844;ENST00000455177	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51020	-0.8758	5	0.40728	T	0.16	-9.6393	1.0132	0.01502	0.1621:0.1897:0.2476:0.4007	.	.	.	.	H	45;99	.	ENSP00000369173:R45H	R	+	2	0	PRMT2	46892947	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	-1.909000	0.01586	-2.373000	0.00600	-1.813000	0.00610	CGC	G|0.999;A|0.001		0.577	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535	
CECR5	27440	hgsc.bcm.edu	37	22	17640022	17640022	+	Silent	SNP	G	G	C	rs11550530	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:17640022G>C	ENST00000336737.4	-	1	145	c.120C>G	c.(118-120)ccC>ccG	p.P40P	CECR5-AS1_ENST00000431923.1_RNA|CECR5_ENST00000155674.5_Intron|CECR5_ENST00000399852.3_Silent_p.P40P|CECR5-AS1_ENST00000329743.3_RNA|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	40						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCACCTGAGCGGGGCCCACAG	0.791													G|||	523	0.104433	0.1248	0.1297	5008	,	,		6009	0.123		0.0865	False		,,,				2504	0.0583				p.P40P		.											.	CECR5-514	0			c.C120G						.	G	,	187,2477		4,179,1149	2.0	3.0	3.0		,120	-4.2	0.0	22	dbSNP_134	3	289,5621		4,281,2670	no	intron,coding-synonymous	CECR5	NM_017829.5,NM_033070.2	,	8,460,3819	CC,CG,GG		4.89,7.0195,5.5517	,	,40/424	17640022	476,8098	1332	2955	4287	SO:0001819	synonymous_variant	27440	exon1			CTGAGCGGGGCCC	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.120C>G	22.37:g.17640022G>C		0	0		5	5	NM_033070	0	0	0	0	0	B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	CCDS33595.1																																																																																			.		0.791	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829	
DGCR6	8214	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	18900804	18900804	+	IGR	SNP	G	G	A	rs370393004		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:18900804G>A	ENST00000331444.6	+	0	1214				PRODH_ENST00000334029.2_Missense_Mutation_p.R455C|PRODH_ENST00000420436.1_Missense_Mutation_p.R455C|PRODH_ENST00000357068.6_Missense_Mutation_p.R563C	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						AGGGCACGGCGGGACAAGTAG	0.647																																					p.R563C		.											.	PRODH-289	0			c.C1687T						.	G	CYS/ARG,CYS/ARG	0,4372		0,0,2186	27.0	26.0	27.0		1363,1687	4.4	1.0	22		27	1,8557		0,1,4278	no	missense,missense	PRODH	NM_001195226.1,NM_016335.4	180,180	0,1,6464	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	455/493,563/601	18900804	1,12929	2186	4279	6465	SO:0001628	intergenic_variant	5625	exon15			CACGGCGGGACAA	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162		22.37:g.18900804G>A		81	0		187	10	NM_016335	0	0	1	1	0	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	25.1	4.605306	0.87157	0.0	1.17E-4	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.79554	-1.28	4.43	4.43	0.53597	Proline dehydrogenase (1);	0.125962	0.51477	D	0.000089	D	0.92414	0.7592	H	0.97682	4.055	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	0.93642	0.6965	10	0.87932	D	0	-38.2515	10.2254	0.43222	0.0:0.0:0.8015:0.1985	.	479;563;455	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	C	563;208	ENSP00000349577:R563C	ENSP00000318329:R208C	R	-	1	0	PRODH	17280804	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.872000	0.48467	2.196000	0.70406	0.505000	0.49811	CGC	.		0.647	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675	
MN1	4330	hgsc.bcm.edu	37	22	28194988	28194988	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:28194988G>A	ENST00000302326.4	-	1	2498	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	515					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCCGGGGCCGGATGCTGCAG	0.657			T	ETV6	"""AML, meningioma"""																																p.P515L		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	MN1-993	0			c.C1544T						.						7.0	9.0	8.0					22																	28194988		2047	4140	6187	SO:0001583	missense	4330	exon1			GGGGCCGGATGCT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1544C>T	22.37:g.28194988G>A	ENSP00000304956:p.Pro515Leu	4	0		103	6	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194541	0.58017	.	.	ENSG00000169184	ENST00000302326	T	0.54071	0.59	4.78	4.78	0.61160	.	0.063358	0.64402	D	0.000005	T	0.48205	0.1487	N	0.24115	0.695	0.49915	D	0.999839	D	0.59767	0.986	P	0.51170	0.661	T	0.52510	-0.8566	10	0.59425	D	0.04	-13.3403	13.1229	0.59338	0.0:0.162:0.838:0.0	.	515	Q10571	MN1_HUMAN	L	515	ENSP00000304956:P515L	ENSP00000304956:P515L	P	-	2	0	MN1	26524988	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.511000	0.53400	2.192000	0.70111	0.313000	0.20887	CCG	.		0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
TTC28	23331	hgsc.bcm.edu;broad.mit.edu	37	22	28389367	28389367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:28389367delG	ENST00000397906.2	-	18	5525	c.5384delC	c.(5383-5385)ccafs	p.P1795fs	TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000433317.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1795					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GCCACTGGTTGGGGGGTCCAG	0.657																																					p.P1795fs		.											.	.	0			c.5384delC						.						32.0	37.0	36.0					22																	28389367		692	1591	2283	SO:0001589	frameshift_variant	23331	exon18			CTGGTTGGGGGGT	AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.5384delC	22.37:g.28389367delG	ENSP00000381003:p.Pro1795fs	7	0		45	22	NM_001145418	0	0	0	0	0	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Frame_Shift_Del	DEL	ENST00000397906.2	37	CCDS46678.1																																																																																			.		0.657	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
ZNRF3	84133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	29444383	29444383	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:29444383C>T	ENST00000544604.2	+	7	1094	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R207W|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R207W|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R207W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	307					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R207W(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCAGGAGCTGCGGGTCATCCC	0.602																																					p.R307W		.											.	ZNRF3-69	1	Substitution - Missense(1)	endometrium(1)	c.C919T						.						72.0	87.0	82.0					22																	29444383		2143	4240	6383	SO:0001583	missense	84133	exon7			GAGCTGCGGGTCA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.919C>T	22.37:g.29444383C>T	ENSP00000443824:p.Arg307Trp	169	1		161	145	NM_001206998	0	0	0	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237510	0.79800	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.45	4.37	0.52481	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.051912	0.64402	D	0.000001	D	0.84252	0.5431	M	0.93016	3.37	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	D	0.87312	0.2312	10	0.87932	D	0	-14.9642	12.176	0.54186	0.2935:0.7064:0.0:0.0	.	307	Q9ULT6	ZNRF3_HUMAN	W	307;207;207;207	ENSP00000443824:R307W;ENSP00000328614:R207W;ENSP00000384456:R207W;ENSP00000384553:R207W	ENSP00000328614:R207W	R	+	1	2	ZNRF3	27774383	1.000000	0.71417	0.994000	0.49952	0.917000	0.54804	3.383000	0.52471	2.550000	0.86006	0.650000	0.86243	CGG	.		0.602	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	
SLC35E4	339665	hgsc.bcm.edu	37	22	31032952	31032952	+	Missense_Mutation	SNP	T	T	G	rs150781327	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:31032952T>G	ENST00000343605.4	+	1	1314	c.515T>G	c.(514-516)cTg>cGg	p.L172R	SLC35E4_ENST00000300385.8_Missense_Mutation_p.L172R|SLC35E4_ENST00000406566.1_Missense_Mutation_p.L172R	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	172	EamA.|Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCGCTCTGCCTGGGGGCCGCC	0.687													T|||	5	0.000998403	0.0008	0.0	5008	,	,		14941	0.0		0.004	False		,,,				2504	0.0				p.L172R		.											.	SLC35E4-90	0			c.T515G						.	T	ARG/LEU	5,4399		0,5,2197	23.0	21.0	22.0		515	5.2	1.0	22	dbSNP_134	22	58,8538		0,58,4240	no	missense	SLC35E4	NM_001001479.2	102	0,63,6437	GG,GT,TT		0.6747,0.1135,0.4846	probably-damaging	172/351	31032952	63,12937	2202	4298	6500	SO:0001583	missense	339665	exon1			TCTGCCTGGGGGC		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.515T>G	22.37:g.31032952T>G	ENSP00000339626:p.Leu172Arg	0	0		20	17	NM_001001479	0	0	0	4	4	Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441196	0.83993	0.001135	0.006747	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.000000	0.64402	D	0.000001	T	0.60235	0.2253	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64028	-0.6503	10	0.37606	T	0.19	-12.1879	14.0058	0.64463	0.0:0.0:0.0:1.0	.	172;172	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	R	172;172;172;148	ENSP00000339626:L172R;ENSP00000300385:L172R;ENSP00000384377:L172R;ENSP00000413552:L148R	ENSP00000300385:L172R	L	+	2	0	SLC35E4	29362952	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.506000	0.66993	1.950000	0.56595	0.448000	0.29417	CTG	T|0.995;G|0.005		0.687	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973	
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	37466579	37466579	+	Frame_Shift_Del	DEL	C	C	-	rs368004115		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:37466579delC	ENST00000346753.3	-	15	1929	c.1813delG	c.(1813-1815)gccfs	p.A605fs	TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.A596fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.A596fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.A596fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	605	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCGATGAGGGCCCCCCCACAG	0.657																																					p.A605fs		.											.	TMPRSS6-292	0			c.1813delG	GRCh37	CD082210	TMPRSS6	D		.						58.0	60.0	59.0					22																	37466579		2203	4300	6503	SO:0001589	frameshift_variant	164656	exon15			TGAGGGCCCCCCC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1813delG	22.37:g.37466579delC	ENSP00000334962:p.Ala605fs	92	0		135	112	NM_153609	0	0	0	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	CCDS13941.1																																																																																			.		0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
BAIAP2L2	80115	broad.mit.edu;bcgsc.ca	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689				p.441_455del		.											.	BAIAP2L2-91	0			c.1322_1363del						.			138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				SO:0001651	inframe_deletion	80115	exon12			TTGGGGTGCGGGA	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del	12	0		34	0	NM_025045	0	0	0	0	0	B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	CCDS43018.1																																																																																			.		0.674	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	39966861	39966861	+	Missense_Mutation	SNP	C	C	T	rs372403873		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:39966861C>T	ENST00000402142.3	+	1	104	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CACNA1I_ENST00000401624.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P35L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P35L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	35					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCATCCTCCCCGCCAGGCCTG	0.692																																					p.P35L		.											.	CACNA1I-135	0			c.C104T						.	C	LEU/PRO,LEU/PRO	0,4010		0,0,2005	28.0	35.0	33.0		104,104	5.3	0.6	22		33	1,8335		0,1,4167	no	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	98,98	0,1,6172	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	35/2189,35/2224	39966861	1,12345	2005	4168	6173	SO:0001583	missense	8911	exon1			CCTCCCCGCCAGG	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.104C>T	22.37:g.39966861C>T	ENSP00000385019:p.Pro35Leu	33	0		74	7	NM_001003406	0	0	1	1	0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293546	0.60086	0.0	1.2E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96885	-4.16;-4.12;-4.16;-4.12;-4.15;-4.06	5.27	5.27	0.74061	.	0.911528	0.09040	N	0.857428	D	0.94850	0.8336	N	0.08118	0	0.52099	D	0.99994	D;D	0.67145	0.996;0.993	P;P	0.54100	0.742;0.557	D	0.93167	0.6563	10	0.62326	D	0.03	.	19.2321	0.93843	0.0:1.0:0.0:0.0	.	35;35	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	L	35	ENSP00000385019:P35L;ENSP00000384093:P35L;ENSP00000383887:P35L;ENSP00000385680:P35L;ENSP00000337829:P35L;ENSP00000383028:P35L	ENSP00000337829:P35L	P	+	2	0	CACNA1I	38296807	0.951000	0.32395	0.619000	0.29118	0.071000	0.16799	3.498000	0.53302	2.633000	0.89246	0.561000	0.74099	CCG	.		0.692	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
TNRC6B	23112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	40661638	40661638	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:40661638delA	ENST00000454349.2	+	5	1615	c.1404delA	c.(1402-1404)tcafs	p.S468fs	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Frame_Shift_Del_p.S468fs|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	468	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CAACTGGGTCAAAAAATGACT	0.458																																					p.S468fs		.											.	TNRC6B-22	0			c.1404delA						.						37.0	38.0	38.0					22																	40661638		1844	4087	5931	SO:0001589	frameshift_variant	23112	exon5			TGGGTCAAAAAAT	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1404delA	22.37:g.40661638delA	ENSP00000401946:p.Ser468fs	67	0		55	45	NM_001162501	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Del	DEL	ENST00000454349.2	37	CCDS54533.1																																																																																			.		0.458	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
FBLN1	2192	bcgsc.ca	37	22	45959041	45959041	+	Intron	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:45959041C>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Silent_p.P649P|FBLN1_ENST00000402984.3_Silent_p.P687P	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCCTGTCCCCGAGCCCAGGG	0.617																																					p.P649P		.											.	FBLN1-515	0			c.C1947T						.						64.0	65.0	65.0					22																	45959041		2203	4300	6503	SO:0001627	intron_variant	2192	exon15			TGTCCCCGAGCCC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11350C>T	22.37:g.45959041C>T		186	0		162	6	NM_001996	0	0	13	14	1	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																			.		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
MLC1	23209	hgsc.bcm.edu	37	22	50502469	50502469	+	Silent	SNP	A	A	G	rs11568189|rs11568190	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:50502469A>G	ENST00000311597.5	-	11	1659	c.1053T>C	c.(1051-1053)gcT>gcC	p.A351A	MLC1_ENST00000431262.2_Silent_p.A321A|MLC1_ENST00000535444.1_Silent_p.A272A|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.A351A|MLC1_ENST00000450140.2_Silent_p.A299A|MLC1_ENST00000538737.1_Silent_p.A317A	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	351					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCACCTCCCCAGCCAGGCGCT	0.697																																					p.A351A		.											.	MLC1-91	0			c.T1053C						.						24.0	24.0	24.0					22																	50502469		2199	4295	6494	SO:0001819	synonymous_variant	23209	exon11			CTCCCCAGCCAGG	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1053T>C	22.37:g.50502469A>G		0	0		18	12	NM_015166	0	0	0	0	0	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																			A|0.901;G|0.099		0.697	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	
THUMPD3	25917	bcgsc.ca	37	3	9422210	9422210	+	Silent	SNP	T	T	C	rs2596916	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:9422210T>C	ENST00000345094.3	+	7	1366	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.C344C|THUMPD3_ENST00000452837.2_Silent_p.C344C	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	344						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGTCTGACTGTTTCCATATTG	0.333													T|||	3091	0.617212	0.5446	0.5908	5008	,	,		17264	0.5665		0.6093	False		,,,				2504	0.7945				p.C344C		.											.	THUMPD3-227	0			c.T1032C						.	T	,	2446,1960	620.6+/-393.6	685,1076,442	103.0	101.0	102.0		1032,1032	3.2	1.0	3	dbSNP_100	102	5219,3381	639.7+/-399.5	1589,2041,670	no	coding-synonymous,coding-synonymous	THUMPD3	NM_001114092.1,NM_015453.2	,	2274,3117,1112	CC,CT,TT		39.314,44.4848,41.0657	,	344/508,344/508	9422210	7665,5341	2203	4300	6503	SO:0001819	synonymous_variant	25917	exon7			TGACTGTTTCCAT	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1032T>C	3.37:g.9422210T>C		94	0		73	5	NM_001114092	0	0	3	3	0	Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	ENST00000345094.3	37	CCDS2573.1	1254	0.5741758241758241	265	0.5386178861788617	210	0.580110497237569	327	0.5716783216783217	452	0.5963060686015831	T	8.071	0.770195	0.15983	0.555152	0.60686	ENSG00000134077	ENST00000441127	.	.	.	5.55	3.2	0.36748	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999999	.	.	.	.	.	.	T	0.46162	-0.9211	3	.	.	.	-15.3779	7.1043	0.25354	0.0:0.2685:0.0:0.7315	rs2596916;rs17849507;rs56489598;rs60900250;rs2596916	.	.	.	A	201	.	.	V	+	2	0	THUMPD3	9397210	1.000000	0.71417	0.993000	0.49108	0.708000	0.40852	1.117000	0.31234	0.943000	0.37553	0.454000	0.30748	GTT	T|0.410;C|0.590		0.333	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	
GRIP2	80852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	14552686	14552686	+	RNA	SNP	G	G	A	rs367789595		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:14552686G>A	ENST00000273083.3	-	0	1984							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGTCCTCGTCCTTCCGGA	0.602																																					.		.											.	GRIP2-69	0			.						.	G		0,4116		0,0,2058	72.0	77.0	75.0		2210	-4.4	1.0	3		75	1,8415		0,1,4207	no	coding-synonymous	GRIP2	NM_001080423.2		0,1,6265	AA,AG,GG		0.0119,0.0,0.0080		737/1141	14552686	1,12531	2058	4208	6266			80852	.			GTCCTCGTCCTTC	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552686G>A		109	0		89	76	.	0	0	0	0	0	Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																				.		0.602	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
NR2C2	7182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	15071882	15071882	+	Missense_Mutation	SNP	G	G	A	rs561716347		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:15071882G>A	ENST00000425241.1	+	9	1395	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	NR2C2_ENST00000323373.6_Missense_Mutation_p.V364I|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.V345I|NR2C2_ENST00000393102.3_Missense_Mutation_p.V345I			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	345					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGCATCCACGTCATCAGCAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20353	0.001		0.0	False		,,,				2504	0.0				p.V364I		.											.	NR2C2-226	0			c.G1090A						.						231.0	182.0	198.0					3																	15071882		2203	4300	6503	SO:0001583	missense	7182	exon10			ATCCACGTCATCA	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1033G>A	3.37:g.15071882G>A	ENSP00000388387:p.Val345Ile	207	0		183	164	NM_003298	0	0	2	5	3	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	G	10.65	1.410412	0.25465	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93763	-3.28;-3.27;-3.28;-3.28	5.79	5.79	0.91817	Nuclear hormone receptor, ligand-binding (1);	0.117593	0.64402	D	0.000020	D	0.86904	0.6045	N	0.19112	0.55	0.40723	D	0.98267	B;B	0.15141	0.012;0.005	B;B	0.12837	0.008;0.003	T	0.81822	-0.0756	10	0.21014	T	0.42	.	13.2502	0.60048	0.072:0.0:0.9279:0.0	.	345;364	P49116;F2YGU2	NR2C2_HUMAN;.	I	345;364;345;345	ENSP00000388387:V345I;ENSP00000320447:V364I;ENSP00000376814:V345I;ENSP00000384463:V345I	ENSP00000320447:V364I	V	+	1	0	NR2C2	15046886	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	3.646000	0.54396	2.746000	0.94184	0.655000	0.94253	GTC	.		0.498	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
CTDSPL	10217	bcgsc.ca	37	3	38017252	38017252	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:38017252G>A	ENST00000273179.5	+	7	598	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Missense_Mutation_p.R180Q	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	191	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTCCGGGCCCGGCTCTTCAGA	0.537																																					p.R191Q		.											.	CTDSPL-90	0			c.G572A						.						101.0	108.0	106.0					3																	38017252		2203	4300	6503	SO:0001583	missense	10217	exon7			GGGCCCGGCTCTT	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.572G>A	3.37:g.38017252G>A	ENSP00000273179:p.Arg191Gln	75	3		49	27	NM_001008392	0	0	0	2	2	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759764	0.96898	.	.	ENSG00000144677	ENST00000443503;ENST00000273179;ENST00000447745	T;T;T	0.20881	2.04;2.04;2.04	4.79	4.79	0.61399	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.77835	-0.2440	10	0.87932	D	0	-26.3194	18.2041	0.89848	0.0:0.0:1.0:0.0	.	180;191	O15194-2;O15194	.;CTDSL_HUMAN	Q	180;191;80	ENSP00000398288:R180Q;ENSP00000273179:R191Q;ENSP00000407443:R80Q	ENSP00000273179:R191Q	R	+	2	0	CTDSPL	37992256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.575000	0.98187	2.386000	0.81285	0.561000	0.74099	CGG	.		0.537	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	
TTC21A	199223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	39180220	39180220	+	Missense_Mutation	SNP	G	G	A	rs369092746		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:39180220G>A	ENST00000431162.2	+	29	4038	c.3904G>A	c.(3904-3906)Gac>Aac	p.D1302N	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.D1303N|TTC21A_ENST00000440121.1_Missense_Mutation_p.D1254N			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1302										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGCACCCCGACTACCCCAA	0.587																																					p.D1302N		.											.	TTC21A-91	0			c.G3904A						.	G	ASN/ASP,ASN/ASP	0,3864		0,0,1932	88.0	86.0	87.0		3760,3904	2.7	1.0	3		87	1,8223		0,1,4111	no	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	23,23	0,1,6043	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	1254/1273,1302/1321	39180220	1,12087	1932	4112	6044	SO:0001583	missense	199223	exon29			CACCCCGACTACC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3904G>A	3.37:g.39180220G>A	ENSP00000398211:p.Asp1302Asn	146	1		106	93	NM_145755	0	0	0	7	7	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	1.876	-0.459079	0.04508	0.0	1.22E-4	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.76186	-1.0;-1.0;-1.0	5.28	2.73	0.32206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.296117	0.31082	N	0.008287	T	0.41003	0.1140	N	0.02973	-0.45	0.19300	N	0.99997	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.0	T	0.29701	-1.0003	10	0.06891	T	0.86	-8.728	5.2596	0.15565	0.6834:0.152:0.1646:0.0	.	1254;1303;1302	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	N	1303;1285;1302;1254	ENSP00000301819:D1303N;ENSP00000398211:D1302N;ENSP00000410882:D1254N	ENSP00000301819:D1303N	D	+	1	0	TTC21A	39155224	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	1.528000	0.35985	0.831000	0.34780	-0.415000	0.06103	GAC	.		0.587	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
NKTR	4820	bcgsc.ca	37	3	42660604	42660604	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:42660604G>T	ENST00000232978.8	+	4	414	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	NKTR_ENST00000442970.1_Missense_Mutation_p.G76W|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTCAGGGTGGGGACTTCAG	0.348																																					p.G76W		.											.	NKTR-93	0			c.G226T						.						133.0	144.0	140.0					3																	42660604		2203	4300	6503	SO:0001583	missense	4820	exon4			CAGGGTGGGGACT		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.226G>T	3.37:g.42660604G>T	ENSP00000232978:p.Gly76Trp	106	0		67	4	NM_005385	0	0	0	0	0		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390868	0.82902	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.68025	-0.3;-0.3;-0.3	4.94	4.94	0.65067	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95302	0.8404	10	0.87932	D	0	-16.2248	18.1303	0.89599	0.0:0.0:1.0:0.0	.	76;76	P30414;A8K7K2	NKTR_HUMAN;.	W	76	ENSP00000232978:G76W;ENSP00000390259:G76W;ENSP00000408660:G76W	ENSP00000232978:G76W	G	+	1	0	NKTR	42635608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.460000	0.83146	0.555000	0.69702	GGG	.		0.348	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	42771959	42771959	+	Splice_Site	SNP	C	C	T	rs141485184		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:42771959C>T	ENST00000310232.6	-	13	1801	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	573										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CATGTGTTACCGTTTCTGCAG	0.602																																					p.R573Q		.											.	CCDC13-91	0			c.G1718A						.						93.0	84.0	87.0					3																	42771959		2203	4300	6503	SO:0001630	splice_region_variant	152206	exon13			TGTTACCGTTTCT	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1718+1G>A	3.37:g.42771959C>T		181	0		131	115	NM_144719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214683	0.95104	.	.	ENSG00000244607	ENST00000310232	T	0.11277	2.79	5.76	5.76	0.90799	.	0.167523	0.49916	D	0.000127	T	0.36771	0.0979	M	0.79475	2.455	0.48511	D	0.999663	D	0.89917	1.0	D	0.85130	0.997	T	0.02167	-1.1202	9	.	.	.	.	18.734	0.91748	0.0:1.0:0.0:0.0	.	573	Q8IYE1	CCD13_HUMAN	Q	573	ENSP00000309836:R573Q	.	R	-	2	0	CCDC13	42746963	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.786000	0.62425	2.726000	0.93360	0.655000	0.94253	CGG	C|0.999;G|0.000		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	Missense_Mutation
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	47036641	47036641	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47036641G>A	ENST00000450053.3	+	13	1595	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	NBEAL2_ENST00000292309.5_Silent_p.A472A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	472					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCCTAGCGCAACGCCTCA	0.667																																					p.A472A		.											.	NBEAL2-69	0			c.G1416A						.						10.0	12.0	11.0					3																	47036641		2035	4146	6181	SO:0001819	synonymous_variant	23218	exon13			CCTAGCGCAACGC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1416G>A	3.37:g.47036641G>A		8	0		109	99	NM_015175	0	0	1	2	1	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1																																																																																			.		0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
KIF9	64147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	47312930	47312930	+	Missense_Mutation	SNP	G	G	A	rs201201745		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47312930G>A	ENST00000265529.3	-	6	1068	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	KIF9_ENST00000444589.2_Missense_Mutation_p.R130C|KIF9_ENST00000335044.2_Missense_Mutation_p.R130C|KIF9_ENST00000452770.2_Missense_Mutation_p.R130C|KIF9_ENST00000352910.4_Missense_Mutation_p.R37C|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGTGGGGCGTTCTTCGATC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18528	0.001		0.0	False		,,,				2504	0.0				p.R130C	Colon(44;962 1147 15977 24541)	.											.	KIF9-91	0			c.C388T						.						88.0	83.0	85.0					3																	47312930		2203	4300	6503	SO:0001583	missense	64147	exon5			TGGGGCGTTCTTC	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.388C>T	3.37:g.47312930G>A	ENSP00000265529:p.Arg130Cys	126	0		80	8	NM_182902	0	0	0	0	0	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.3	4.135844	0.77662	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Kinesin, motor domain (4);	0.207650	0.36134	N	0.002761	D	0.84853	0.5564	M	0.78344	2.41	0.41755	D	0.989685	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.85382	0.1120	10	0.52906	T	0.07	.	12.837	0.57780	0.0:0.0:0.8367:0.1633	.	130;130	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	C	130;130;130;130;37	ENSP00000333942:R130C;ENSP00000265529:R130C;ENSP00000414987:R130C;ENSP00000391100:R130C;ENSP00000292334:R37C	ENSP00000265529:R130C	R	-	1	0	KIF9	47287934	0.984000	0.35163	1.000000	0.80357	0.994000	0.84299	3.110000	0.50352	2.781000	0.95711	0.650000	0.86243	CGC	G|1.000;A|0.000		0.493	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	47465429	47465429	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47465429C>T	ENST00000265565.5	-	9	1556	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	SCAP_ENST00000441517.2_Missense_Mutation_p.A127T|SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	382	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TTACCTTGGGCGATCCGCAGC	0.567																																					p.A382T	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.G1144A						.						80.0	65.0	70.0					3																	47465429		2203	4300	6503	SO:0001583	missense	22937	exon9			CTTGGGCGATCCG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1144G>A	3.37:g.47465429C>T	ENSP00000265565:p.Ala382Thr	116	0		88	75	NM_012235	0	0	0	0	0	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	36	5.697719	0.96802	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	D;D	0.96427	-4.01;-4.01	4.85	4.85	0.62838	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99246	1.0886	10	0.87932	D	0	-28.636	18.1682	0.89736	0.0:1.0:0.0:0.0	.	127;382	F8W921;Q12770	.;SCAP_HUMAN	T	382;382;127;75	ENSP00000265565:A382T;ENSP00000416847:A127T	ENSP00000265565:A382T	A	-	1	0	SCAP	47440433	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	7.412000	0.80091	2.537000	0.85549	0.655000	0.94253	GCC	.		0.567	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																					.		.											.	GPX1-68	0			.						.						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876	.			TTGCACGGGAAGC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C		17	0		98	17	.	0	0	245	245	0	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG	G|0.333;C|0.667		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49694175	49694175	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:49694175C>T	ENST00000296452.4	+	5	7300	c.7186C>T	c.(7186-7188)Cgg>Tgg	p.R2396W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2396					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGCTAGAGCGGGAACGTGT	0.627																																					p.R2396W		.											.	BSN-97	0			c.C7186T						.						34.0	33.0	33.0					3																	49694175		2192	4291	6483	SO:0001583	missense	8927	exon5			CTAGAGCGGGAAC	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.7186C>T	3.37:g.49694175C>T	ENSP00000296452:p.Arg2396Trp	250	0		337	123	NM_003458	0	0	0	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334924	0.24253	.	.	ENSG00000164061	ENST00000296452	T	0.30448	1.53	6.17	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	N	0.19112	0.55	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.08743	-1.0707	10	0.30854	T	0.27	-18.4878	16.0498	0.80749	0.5919:0.4081:0.0:0.0	.	2396	Q9UPA5	BSN_HUMAN	W	2396	ENSP00000296452:R2396W	ENSP00000296452:R2396W	R	+	1	2	BSN	49669179	0.128000	0.22383	0.999000	0.59377	0.997000	0.91878	-0.575000	0.05861	0.392000	0.25172	0.655000	0.94253	CGG	.		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
SEMA3G	56920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52475300	52475300	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:52475300G>A	ENST00000231721.2	-	7	792	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGGCCCACGCGGCTGACAGTG	0.607																																					p.R265C		.											.	SEMA3G-70	0			c.C793T						.						63.0	49.0	54.0					3																	52475300		2203	4300	6503	SO:0001583	missense	56920	exon7			CCACGCGGCTGAC		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.793C>T	3.37:g.52475300G>A	ENSP00000231721:p.Arg265Cys	123	1		160	152	NM_020163	0	0	0	0	0	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366990	0.61513	.	.	ENSG00000010319	ENST00000231721	T	0.32753	1.44	4.56	2.69	0.31865	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.174626	0.52532	N	0.000074	T	0.53222	0.1783	H	0.96518	3.835	0.58432	D	0.999999	P	0.50066	0.931	P	0.49502	0.613	T	0.63120	-0.6708	10	0.87932	D	0	.	9.1929	0.37211	0.1848:0.0:0.8152:0.0	.	265	Q9NS98	SEM3G_HUMAN	C	265	ENSP00000231721:R265C	ENSP00000231721:R265C	R	-	1	0	SEMA3G	52450340	1.000000	0.71417	0.820000	0.32676	0.527000	0.34593	2.151000	0.42263	0.528000	0.28580	0.561000	0.74099	CGC	.		0.607	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
GNL3	26354	bcgsc.ca	37	3	52727736	52727736	+	Silent	SNP	A	A	G	rs4532127	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:52727736A>G	ENST00000418458.1	+	13	1586	c.1413A>G	c.(1411-1413)gaA>gaG	p.E471E	SNORD19B_ENST00000459623.1_RNA|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000463827.1_5'Flank|GNL3_ENST00000394799.2_Silent_p.E459E|SNORD19_ENST00000410413.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	471	Acidic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ACATACATGAAGAATTGCCAA	0.438													A|||	629	0.125599	0.41	0.0533	5008	,	,		21036	0.0		0.0099	False		,,,				2504	0.0409				p.E471E		.											.	GNL3-90	0			c.A1413G						.	A	,,	1500,2906	467.2+/-354.7	258,984,961	107.0	112.0	111.0		1413,1377,1377	4.9	0.7	3	dbSNP_111	111	192,8408	84.0+/-146.5	2,188,4110	no	coding-synonymous,coding-synonymous,coding-synonymous	GNL3	NM_014366.4,NM_206825.1,NM_206826.1	,,	260,1172,5071	GG,GA,AA		2.2326,34.0445,13.0094	,,	471/550,459/538,459/538	52727736	1692,11314	2203	4300	6503	SO:0001819	synonymous_variant	26354	exon13			ACATGAAGAATTG	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1413A>G	3.37:g.52727736A>G		313	3		253	8	NM_014366	0	0	45	45	0	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	CCDS2861.1																																																																																			A|0.878;G|0.122		0.438	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366	
MAGI1	9223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	65365023	65365023	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:65365023C>T	ENST00000497477.2	-	17	2907	c.2908G>A	c.(2908-2910)Gac>Aac	p.D970N	MAGI1_ENST00000330909.8_Missense_Mutation_p.D998N|MAGI1_ENST00000483466.1_Missense_Mutation_p.D998N|MAGI1_ENST00000402939.2_Missense_Mutation_p.D970N			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	998	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCTCCACGTCGTAGGGCTGC	0.692																																					p.D998N		.											.	MAGI1-661	0			c.G2992A						.						39.0	33.0	35.0					3																	65365023		2202	4300	6502	SO:0001583	missense	9223	exon18			CCACGTCGTAGGG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2908G>A	3.37:g.65365023C>T	ENSP00000424369:p.Asp970Asn	32	0		74	73	NM_015520	0	0	1	3	2	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.680794	0.88542	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.21543	2.4;2.08;2.08;2.07;2.0;2.07	5.46	4.59	0.56863	.	0.048252	0.85682	N	0.000000	T	0.35624	0.0938	L	0.37697	1.125	0.58432	D	0.999999	P;P;D;P;D	0.89917	0.683;0.922;0.998;0.864;1.0	P;P;D;P;D	0.75484	0.659;0.514;0.936;0.698;0.986	T	0.06338	-1.0832	10	0.48119	T	0.1	-26.5818	14.15	0.65378	0.0:0.9273:0.0:0.0727	.	998;970;998;970;998	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	N	970;998;894;873;998;970;756	ENSP00000385450:D970N;ENSP00000331157:D998N;ENSP00000418177:D873N;ENSP00000420323:D998N;ENSP00000424369:D970N;ENSP00000420796:D756N	ENSP00000331157:D998N	D	-	1	0	MAGI1	65340063	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	7.695000	0.84257	1.301000	0.44836	0.557000	0.71058	GAC	.		0.692	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
NXPE3	91775	broad.mit.edu;bcgsc.ca	37	3	101520735	101520735	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:101520735C>A	ENST00000491511.2	+	5	1706	c.750C>A	c.(748-750)ttC>ttA	p.F250L	NXPE3_ENST00000273347.5_Missense_Mutation_p.F250L|NXPE3_ENST00000422132.1_Missense_Mutation_p.F250L|NXPE3_ENST00000477909.1_Missense_Mutation_p.F250L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	250						extracellular region (GO:0005576)											GGTTCTGCTTCAAACCAAAGA	0.488																																					p.F250L		.											.	.	0			c.C750A						.						58.0	61.0	60.0					3																	101520735		2202	4300	6502	SO:0001583	missense	91775	exon5			CTGCTTCAAACCA	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.750C>A	3.37:g.101520735C>A	ENSP00000417485:p.Phe250Leu	67	2		73	30	NM_145037	0	0	0	1	1	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189316	0.38707	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.81	4.02	0.46733	.	0.099426	0.64402	D	0.000001	T	0.05640	0.0148	N	0.12182	0.205	0.33226	D	0.555309	B	0.18310	0.027	B	0.15052	0.012	T	0.22452	-1.0216	10	0.07325	T	0.83	-11.8487	12.3864	0.55335	0.0:0.8641:0.0:0.1359	.	250	Q969Y0	FA55C_HUMAN	L	250	ENSP00000273347:F250L;ENSP00000417485:F250L;ENSP00000418369:F250L;ENSP00000396421:F250L	ENSP00000273347:F250L	F	+	3	2	FAM55C	103003425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.625000	0.37029	0.800000	0.34041	0.650000	0.86243	TTC	.		0.488	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
PLCXD2	257068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	111432936	111432936	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111432936G>A	ENST00000477665.1	+	3	1151	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R276Q|PLCXD2_ENST00000472215.1_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	276					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCATTGCCCGGGGCTTGGTT	0.502																																					p.R276Q		.											.	PLCXD2-227	0			c.G827A						.						35.0	36.0	35.0					3																	111432936		2203	4300	6503	SO:0001583	missense	257068	exon3			TTGCCCGGGGCTT	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.827G>A	3.37:g.111432936G>A	ENSP00000420686:p.Arg276Gln	18	0		33	33	NM_001185106	0	0	0	0	0	Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481897	0.63849	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.60327	0.2260	L	0.43152	1.355	0.45733	D	0.998639	D;D	0.67145	0.996;0.994	P;P	0.53954	0.644;0.738	T	0.53114	-0.8484	8	0.13108	T	0.6	-10.5327	16.9188	0.86158	0.0:0.0:1.0:0.0	.	276;276	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	Q	276	.	ENSP00000377511:R276Q	R	+	2	0	PLCXD2	112915626	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	5.787000	0.69013	2.584000	0.87258	0.563000	0.77884	CGG	.		0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	
TAGLN3	29114	broad.mit.edu	37	3	111718285	111718285	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111718285C>T	ENST00000393917.2	+	2	568	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000273368.4_Missense_Mutation_p.P6S|TAGLN3_ENST00000455401.2_Missense_Mutation_p.P6S|TAGLN3_ENST00000478951.1_Missense_Mutation_p.P6S	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	6					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TAACAGGGGCCCGAGCTATGG	0.587																																					p.P6S		.											.	TAGLN3-90	0			c.C16T						.						49.0	47.0	48.0					3																	111718285		2203	4300	6503	SO:0001583	missense	29114	exon2			AGGGGCCCGAGCT	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.16C>T	3.37:g.111718285C>T	ENSP00000377494:p.Pro6Ser	78	2		59	17	NM_001008272	0	0	0	0	0	D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764156	0.89932	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000494932	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.90145	3.09	0.80722	D	1	P	0.42483	0.781	B	0.37387	0.248	T	0.75280	-0.3373	10	0.52906	T	0.07	-21.1792	17.6071	0.88041	0.0:1.0:0.0:0.0	.	6	Q9UI15	TAGL3_HUMAN	S	6	ENSP00000419105:P6S;ENSP00000377494:P6S;ENSP00000273368:P6S;ENSP00000391160:P6S;ENSP00000420675:P6S	ENSP00000273368:P6S	P	+	1	0	TAGLN3	113200975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.235000	0.78143	2.537000	0.85549	0.655000	0.94253	CCG	.		0.587	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259	
FBXO40	51725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	121341510	121341510	+	Missense_Mutation	SNP	G	G	A	rs143415272		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:121341510G>A	ENST00000338040.4	+	3	1648	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	412					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAAGGCCACGTCATCTCTGA	0.478																																					p.V412I		.											.	FBXO40-273	0			c.G1234A						.	G	ILE/VAL	0,4406		0,0,2203	116.0	113.0	114.0		1234	2.8	1.0	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBXO40	NM_016298.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	412/710	121341510	1,13005	2203	4300	6503	SO:0001583	missense	51725	exon3			GGCCACGTCATCT	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1234G>A	3.37:g.121341510G>A	ENSP00000337510:p.Val412Ile	129	0		103	83	NM_016298	0	0	0	0	0	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	4.751	0.139663	0.09083	0.0	1.16E-4	ENSG00000163833	ENST00000338040	T	0.45276	0.9	5.73	2.77	0.32553	.	0.445716	0.24925	N	0.034511	T	0.23846	0.0577	N	0.22421	0.69	0.20975	N	0.999813	B	0.21309	0.054	B	0.12156	0.007	T	0.11108	-1.0601	10	0.20519	T	0.43	-21.1251	7.4796	0.27398	0.1586:0.1392:0.7022:0.0	.	412	Q9UH90	FBX40_HUMAN	I	412	ENSP00000337510:V412I	ENSP00000337510:V412I	V	+	1	0	FBXO40	122824200	0.372000	0.25064	0.990000	0.47175	0.989000	0.77384	0.935000	0.28924	1.447000	0.47661	-0.136000	0.14681	GTC	G|1.000;A|0.000		0.478	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																					p.G36G		.											.	PLXNA1-93	4	Substitution - coding silent(4)	lung(2)|kidney(2)	c.T108G						.						26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361	exon1			CGGGGGTTCACAG	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G		16	1		121	19	NM_032242	0	0	1	1	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			.		0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
TMCC1	23023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	129370538	129370538	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:129370538C>T	ENST00000393238.3	-	6	2088	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	TMCC1_ENST00000426664.2_Missense_Mutation_p.R469Q|TMCC1_ENST00000432054.2_Missense_Mutation_p.R259Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.R404Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	583						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGAAGGTTCCGGGCAGTGGC	0.582																																					p.R583Q		.											.	TMCC1-91	0			c.G1748A						.						148.0	132.0	137.0					3																	129370538		2203	4300	6503	SO:0001583	missense	23023	exon6			AGGTTCCGGGCAG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1748G>A	3.37:g.129370538C>T	ENSP00000376930:p.Arg583Gln	161	0		149	134	NM_001017395	0	0	0	2	2	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654130	0.88056	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.26	5.26	0.73747	.	0.057444	0.64402	D	0.000001	T	0.70675	0.3251	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.988	T	0.71272	-0.4642	10	0.59425	D	0.04	-17.7202	19.0697	0.93127	0.0:1.0:0.0:0.0	.	404;583	B4DE04;O94876	.;TMCC1_HUMAN	Q	259;583;469;404	ENSP00000404711:R259Q;ENSP00000376930:R583Q;ENSP00000389892:R469Q;ENSP00000327349:R404Q	ENSP00000327349:R404Q	R	-	2	0	TMCC1	130853228	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	7.646000	0.83445	2.744000	0.94065	0.650000	0.86243	CGG	.		0.582	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
NPHP3	27031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	132407633	132407633	+	Missense_Mutation	SNP	C	C	T	rs150867534		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:132407633C>T	ENST00000337331.5	-	21	3072	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	996					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCACTGCACGTATACACTT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19313	0.001		0.0	False		,,,				2504	0.0				p.V996M		.											.	NPHP3-91	0			c.G2986A						.						141.0	134.0	137.0					3																	132407633		2203	4300	6503	SO:0001583	missense	27031	exon21			ACTGCACGTATAC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2986G>A	3.37:g.132407633C>T	ENSP00000338766:p.Val996Met	79	0		87	10	NM_153240	0	0	4	4	0	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.53	2.264413	0.39995	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.94330	-3.4	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056453	0.64402	D	0.000001	D	0.84602	0.5508	N	0.13299	0.325	0.80722	D	1	P	0.36110	0.537	B	0.25291	0.059	D	0.84563	0.0651	10	0.33940	T	0.23	-21.4328	13.7958	0.63171	0.0:0.9267:0.0:0.0733	.	996	Q7Z494	NPHP3_HUMAN	M	276;58;996	ENSP00000338766:V996M	ENSP00000338766:V996M	V	-	1	0	NPHP3	133890323	0.994000	0.37717	0.988000	0.46212	0.931000	0.56810	3.134000	0.50538	2.632000	0.89209	0.491000	0.48974	GTG	C|0.999;T|0.000		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
KY	339855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	134322975	134322975	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:134322975C>T	ENST00000423778.2	-	11	1493	c.1432G>A	c.(1432-1434)Ggg>Agg	p.G478R	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Missense_Mutation_p.G457R	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	478					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GAGCAGCGCCCGTCGCTGGTG	0.632																																					p.G478R		.											.	KY-24	0			c.G1432A						.						24.0	26.0	25.0					3																	134322975		2064	4192	6256	SO:0001583	missense	339855	exon11			AGCGCCCGTCGCT	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1432G>A	3.37:g.134322975C>T	ENSP00000397598:p.Gly478Arg	72	0		65	7	NM_178554	0	0	0	0	0	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213653	0.79352	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84046	0.0367	9	0.87932	D	0	-17.6031	19.6704	0.95910	0.0:1.0:0.0:0.0	.	457;478	Q8NBH2-3;Q8NBH2-4	.;.	R	457;478;478	.	ENSP00000309520:G478R	G	-	1	0	KY	135805665	0.997000	0.39634	0.944000	0.38274	0.978000	0.69477	5.677000	0.68142	2.659000	0.90383	0.561000	0.74099	GGG	.		0.632	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554	
IL20RB	53833	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	136701009	136701009	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:136701009G>A	ENST00000329582.4	+	3	472	c.223G>A	c.(223-225)Gag>Aag	p.E75K	IL20RB_ENST00000309741.5_Missense_Mutation_p.E28K|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	75	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGGGAGTACGAGAGCCTGTA	0.537																																					p.E75K		.											.	IL20RB-91	0			c.G223A						.						61.0	57.0	59.0					3																	136701009		2203	4300	6503	SO:0001583	missense	53833	exon3			GAGTACGAGAGCC	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.223G>A	3.37:g.136701009G>A	ENSP00000328133:p.Glu75Lys	188	0		140	47	NM_144717	0	0	0	0	0	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392403	0.62066	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T	0.52526	0.66	4.82	4.82	0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.61148	0.2324	L	0.50919	1.6	0.43308	D	0.995313	D	0.89917	1.0	D	0.69307	0.963	T	0.63821	-0.6550	10	0.72032	D	0.01	-4.0E-4	13.7449	0.62870	0.0:0.0:1.0:0.0	.	75	Q6UXL0	I20RB_HUMAN	K	75;28	ENSP00000328133:E75K	ENSP00000311979:E28K	E	+	1	0	IL20RB	138183699	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	5.376000	0.66178	2.394000	0.81467	0.491000	0.48974	GAG	.		0.537	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717	
SLC9A9	285195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	142987727	142987727	+	Missense_Mutation	SNP	T	T	C	rs374325238		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:142987727T>C	ENST00000316549.6	-	15	1908	c.1700A>G	c.(1699-1701)cAa>cGa	p.Q567R		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	567					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCCATAGGCTTGAGGACTGGT	0.498																																					p.Q567R		.											.	SLC9A9-229	0			c.A1700G						.	T	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	145.0	140.0	141.0		1700	3.3	1.0	3		141	0,8600		0,0,4300	no	missense	SLC9A9	NM_173653.3	43	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	567/646	142987727	1,13005	2203	4300	6503	SO:0001583	missense	285195	exon15			TAGGCTTGAGGAC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1700A>G	3.37:g.142987727T>C	ENSP00000320246:p.Gln567Arg	233	0		172	73	NM_173653	0	0	0	0	0	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865348	0.32977	2.27E-4	0.0	ENSG00000181804	ENST00000316549	T	0.32515	1.45	5.62	3.28	0.37604	.	0.423339	0.22147	N	0.063979	T	0.20981	0.0505	L	0.38175	1.15	0.27057	N	0.963634	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	10	0.32370	T	0.25	.	6.7888	0.23687	0.0:0.2753:0.0:0.7247	.	567	Q8IVB4	SL9A9_HUMAN	R	567	ENSP00000320246:Q567R	ENSP00000320246:Q567R	Q	-	2	0	SLC9A9	144470417	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.633000	0.46519	0.964000	0.38108	0.533000	0.62120	CAA	.		0.498	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
IGSF10	285313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	151164728	151164728	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:151164728C>A	ENST00000282466.3	-	4	3040	c.3041G>T	c.(3040-3042)aGg>aTg	p.R1014M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1014					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAATTTTCCTCTGCCTCCC	0.488																																					p.R1014M		.											.	IGSF10-102	0			c.G3041T						.						72.0	74.0	73.0					3																	151164728		2203	4300	6503	SO:0001583	missense	285313	exon4			ATTTTCCTCTGCC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3041G>T	3.37:g.151164728C>A	ENSP00000282466:p.Arg1014Met	112	0		72	62	NM_178822	0	0	0	0	0	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806274	0.50421	.	.	ENSG00000152580	ENST00000282466	D	0.84146	-1.81	5.46	4.57	0.56435	.	0.000000	0.48767	D	0.000167	D	0.88157	0.6361	L	0.36672	1.1	0.38883	D	0.95695	D	0.89917	1.0	D	0.73380	0.98	D	0.89913	0.4053	10	0.87932	D	0	.	14.6116	0.68519	0.0:0.9283:0.0:0.0717	.	1014	Q6WRI0	IGS10_HUMAN	M	1014	ENSP00000282466:R1014M	ENSP00000282466:R1014M	R	-	2	0	IGSF10	152647418	0.994000	0.37717	0.395000	0.26283	0.018000	0.09664	1.544000	0.36158	2.564000	0.86499	0.591000	0.81541	AGG	.		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	164907802	164907802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:164907802G>A	ENST00000475390.1	-	2	1260	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R273*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	273	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R273*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATTTCTCGTAGGTCCTTT	0.468										HNSCC(40;0.11)																											p.R273X		.											.	SLITRK3-100	1	Substitution - Nonsense(1)	large_intestine(1)	c.C817T						.						121.0	125.0	124.0					3																	164907802		2203	4300	6503	SO:0001587	stop_gained	22865	exon2			TTTCTCGTAGGTC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.817C>T	3.37:g.164907802G>A	ENSP00000420091:p.Arg273*	91	0		55	50	NM_014926	0	0	0	0	0	Q1RMY6	Nonsense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	38	6.837759	0.97877	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.85	3.98	0.46160	.	0.000000	0.30969	N	0.008502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.7448	14.3566	0.66742	0.0:0.0:0.5045:0.4955	.	.	.	.	X	273	.	ENSP00000241274:R273X	R	-	1	2	SLITRK3	166390496	0.994000	0.37717	0.987000	0.45799	0.941000	0.58515	1.654000	0.37334	1.453000	0.47775	0.655000	0.94253	CGA	.		0.468	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
MYNN	55892	broad.mit.edu;bcgsc.ca	37	3	169500336	169500336	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:169500336G>A	ENST00000349841.5	+	5	1967	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	MYNN_ENST00000356716.4_Missense_Mutation_p.R435H|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.R435H|MYNN_ENST00000392733.1_Missense_Mutation_p.R435H	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATCATGTCCGTAGGCATACT	0.428																																					p.R435H		.											.	MYNN-91	0			c.G1304A						.						213.0	182.0	192.0					3																	169500336		2203	4300	6503	SO:0001583	missense	55892	exon6			ATGTCCGTAGGCA	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1304G>A	3.37:g.169500336G>A	ENSP00000326240:p.Arg435His	126	0		180	7	NM_001185118	0	0	3	3	0	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544676	0.86022	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.78	5.78	0.91487	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	0.59128	0.2171	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.569;0.999	T	0.63603	-0.6600	10	0.87932	D	0	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	435;435	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	H	435	ENSP00000349150:R435H;ENSP00000326240:R435H;ENSP00000376492:R435H;ENSP00000440637:R435H	ENSP00000326240:R435H	R	+	2	0	MYNN	170983030	1.000000	0.71417	0.988000	0.46212	0.230000	0.25150	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	CGT	.		0.428	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657	
DCUN1D1	54165	bcgsc.ca	37	3	182681740	182681740	+	Silent	SNP	C	C	T	rs4859146	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:182681740C>T	ENST00000292782.4	-	3	471	c.318G>A	c.(316-318)gcG>gcA	p.A106A	DCUN1D1_ENST00000469954.1_Silent_p.A91A	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	106	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGAACTTCCACGCAATAATCA	0.423													T|||	3070	0.613019	0.7322	0.7017	5008	,	,		19773	0.2738		0.7425	False		,,,				2504	0.6053				p.A106A		.											.	DCUN1D1-91	0			c.G318A						.	T		3275,1131	403.5+/-332.8	1219,837,147	151.0	126.0	134.0		318	-5.4	0.9	3	dbSNP_111	134	6567,2033	354.0+/-329.3	2510,1547,243	no	coding-synonymous	DCUN1D1	NM_020640.2		3729,2384,390	TT,TC,CC		23.6395,25.6695,24.3272		106/260	182681740	9842,3164	2203	4300	6503	SO:0001819	synonymous_variant	54165	exon3			CTTCCACGCAATA	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.318G>A	3.37:g.182681740C>T		174	1		112	6	NM_020640	0	0	5	5	0	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																			C|0.308;T|0.692		0.423	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
CHRD	8646	broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	184100913	184100913	+	Missense_Mutation	SNP	G	G	A	rs201032668		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:184100913G>A	ENST00000204604.1	+	10	1421	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.R392H|CHRD_ENST00000348986.3_Missense_Mutation_p.R392H|CHRD_ENST00000545352.1_Missense_Mutation_p.R22H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	392	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R392H(1)|p.R105H(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGGGCTGCGCATCAGTGGA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14490	0.0		0.0	False		,,,				2504	0.0				p.R392H		.											.	CHRD-93	2	Substitution - Missense(2)	lung(2)	c.G1175A						.	G	HIS/ARG	2,4402		0,2,2200	15.0	15.0	15.0		1175	4.5	1.0	3		15	0,8596		0,0,4298	yes	missense	CHRD	NM_003741.2	29	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	392/956	184100913	2,12998	2202	4298	6500	SO:0001583	missense	8646	exon10			GGCTGCGCATCAG	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1175G>A	3.37:g.184100913G>A	ENSP00000204604:p.Arg392His	39	1		74	31	NM_003741	0	0	1	1	0	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.35	2.509777	0.44660	4.54E-4	0.0	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.52754	0.93;0.93;0.93;0.65	4.46	4.46	0.54185	CHRD (3);	0.148106	0.50627	D	0.000112	T	0.36166	0.0957	L	0.42245	1.32	0.44745	D	0.997741	B;P;B;P	0.49090	0.417;0.801;0.4;0.919	B;B;B;B	0.37833	0.055;0.118;0.236;0.259	T	0.28202	-1.0051	10	0.46703	T	0.11	-23.4508	10.7968	0.46466	0.0946:0.0:0.9054:0.0	.	22;392;392;392	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	392;392;392;22;105	ENSP00000204604:R392H;ENSP00000408972:R392H;ENSP00000334036:R392H;ENSP00000442948:R22H	ENSP00000204604:R392H	R	+	2	0	CHRD	185583607	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.508000	0.45450	2.198000	0.70561	0.462000	0.41574	CGC	G|0.999;A|0.000		0.657	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
ETV5	2119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	185766567	185766567	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:185766567G>A	ENST00000306376.5	-	13	1640	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	ETV5_ENST00000537818.1_Missense_Mutation_p.P507L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P465L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	465					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTTCAGGAACGGACGCTGGTT	0.592			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.P465L		.		Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5-706	0			c.C1394T						.						78.0	68.0	72.0					3																	185766567		2203	4300	6503	SO:0001583	missense	2119	exon13			AGGAACGGACGCT	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1394C>T	3.37:g.185766567G>A	ENSP00000306894:p.Pro465Leu	232	0		194	171	NM_004454	0	0	1	4	3	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949035	0.92660	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.53423	0.62;0.62;0.62	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66497	0.86;0.944	T	0.70601	-0.4827	10	0.59425	D	0.04	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	465;507	P41161;B7Z7D7	ETV5_HUMAN;.	L	465;465;507	ENSP00000306894:P465L;ENSP00000413755:P465L;ENSP00000441737:P507L	ENSP00000306894:P465L	P	-	2	0	ETV5	187249261	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CCG	.		0.592	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
FAM157A	728262	bcgsc.ca	37	3	197880129	197880129	+	lincRNA	SNP	T	T	C	rs28554473	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:197880129T>C	ENST00000437428.2	+	0	9							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A											NS(1)|skin(1)	2						TTACAAGAACTGgcagcagca	0.542													N|||	596	0.11901	0.3275	0.0865	5008	,	,		17811	0.0149		0.0408	False		,,,				2504	0.0481				p.W70R		.											.	.	0			c.T208C						.						25.0	20.0	22.0					3																	197880129		692	1591	2283			728262	exon2			AAGAACTGGCAGC			3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197880129T>C		413	12		752	300	NM_001145248	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437428.2	37		.	.	.	.	.	.	.	.	.	.	.	0.026	-1.367330	0.01225	.	.	ENSG00000236438	ENST00000431569	.	.	.	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19582	-1.0301	5	.	.	.	.	.	.	.	.	70	C9JC47	F157A_HUMAN	R	70	.	.	W	+	1	0	FAM157A	199364526	0.009000	0.17119	0.102000	0.21198	0.103000	0.19146	-0.853000	0.04303	-1.749000	0.01330	-1.762000	0.00668	TGG	.		0.542	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000340078.2	NM_001145248	
FAM157A	728262	bcgsc.ca	37	3	197880139	197880139	+	lincRNA	SNP	A	A	G	rs56683636		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:197880139A>G	ENST00000437428.2	+	0	19							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A											NS(1)|skin(1)	2						TGgcagcagcagcagcagcag	0.527																																					p.Q73R		.											.	.	0			c.A218G						.						17.0	15.0	15.0					3																	197880139		692	1589	2281			728262	exon2			AGCAGCAGCAGCA			3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197880139A>G		488	14		934	334	NM_001145248	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437428.2	37		.	.	.	.	.	.	.	.	.	.	.	0.628	-0.818351	0.02776	.	.	ENSG00000236438	ENST00000431569	.	.	.	.	.	.	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.28667	0.219	B	0.32393	0.145	T	0.32052	-0.9921	5	.	.	.	.	.	.	.	.	73	C9JC47	F157A_HUMAN	R	73	.	.	Q	+	2	0	FAM157A	199364536	0.004000	0.15560	0.112000	0.21494	0.112000	0.19704	0.370000	0.20433	0.103000	0.17682	0.102000	0.15555	CAG	.		0.527	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000340078.2	NM_001145248	
UVSSA	57654	broad.mit.edu	37	4	1373989	1373989	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:1373989C>T	ENST00000389851.4	+	11	2170	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	UVSSA_ENST00000512728.1_Missense_Mutation_p.R126W|UVSSA_ENST00000511563.1_Missense_Mutation_p.R126W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R575W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R575W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	575					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCCAGACGGCCGGCTCTGTGA	0.687																																					p.R575W		.											.	.	0			c.C1723T						.						39.0	39.0	39.0					4																	1373989		2200	4300	6500	SO:0001583	missense	57654	exon11			GACGGCCGGCTCT	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1723C>T	4.37:g.1373989C>T	ENSP00000374501:p.Arg575Trp	24	0		224	10	NM_020894	0	0	1	2	1	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646776	0.67358	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.46063	1.47;1.47;1.47;0.88;0.88	5.01	1.76	0.24704	.	0.677969	0.15483	N	0.259965	T	0.55097	0.1899	L	0.60455	1.87	0.26043	N	0.98158	D	0.89917	1.0	D	0.68353	0.957	T	0.43458	-0.9390	10	0.72032	D	0.01	.	9.0765	0.36525	0.6552:0.2398:0.1049:0.0	.	575	Q2YD98	K1530_HUMAN	W	126;575;575;575;126;126	ENSP00000425130:R575W;ENSP00000374501:R575W;ENSP00000421741:R575W;ENSP00000423340:R126W;ENSP00000427701:R126W	ENSP00000296312:R126W	R	+	1	2	KIAA1530	1363989	0.996000	0.38824	0.975000	0.42487	0.805000	0.45488	2.188000	0.42612	0.442000	0.26555	0.561000	0.74099	CGG	.		0.687	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
UVSSA	57654	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	4	1374002	1374002	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:1374002G>A	ENST00000389851.4	+	11	2183	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	UVSSA_ENST00000512728.1_Missense_Mutation_p.R130H|UVSSA_ENST00000511563.1_Missense_Mutation_p.R130H|UVSSA_ENST00000511216.1_Missense_Mutation_p.R579H|UVSSA_ENST00000507531.1_Missense_Mutation_p.R579H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	579					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CTCTGTGAGCGCCAAGACCGG	0.701																																					p.R579H		.											.	.	0			c.G1736A						.						30.0	31.0	31.0					4																	1374002		2199	4298	6497	SO:0001583	missense	57654	exon11			GTGAGCGCCAAGA	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1736G>A	4.37:g.1374002G>A	ENSP00000374501:p.Arg579His	10	0		161	81	NM_020894	0	0	0	2	2	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546547	0.86022	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.78816	0.12;0.12;0.12;-1.21;-1.21	5.01	4.16	0.48862	.	0.099386	0.64402	D	0.000003	D	0.89829	0.6828	M	0.89601	3.045	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.91890	0.5523	10	0.87932	D	0	.	15.346	0.74337	0.0:0.1405:0.8595:0.0	.	579	Q2YD98	K1530_HUMAN	H	130;579;579;579;130;130	ENSP00000425130:R579H;ENSP00000374501:R579H;ENSP00000421741:R579H;ENSP00000423340:R130H;ENSP00000427701:R130H	ENSP00000296312:R130H	R	+	2	0	KIAA1530	1364002	1.000000	0.71417	0.964000	0.40570	0.918000	0.54935	6.825000	0.75293	1.071000	0.40834	0.561000	0.74099	CGC	.		0.701	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
MFSD10	10227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	2933798	2933798	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:2933798C>T	ENST00000329687.4	-	6	1310	c.776G>A	c.(775-777)cGt>cAt	p.R259H	NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.R259H|MFSD10_ENST00000355443.4_Missense_Mutation_p.R259H|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.R259H|MFSD10_ENST00000508221.1_Missense_Mutation_p.R259H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	259					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCCTGGCCACGAGCGACAGC	0.682																																					p.R259H		.											.	MFSD10-68	0			c.G776A						.						27.0	26.0	26.0					4																	2933798		2199	4295	6494	SO:0001583	missense	10227	exon6			TGGCCACGAGCGA	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.776G>A	4.37:g.2933798C>T	ENSP00000332646:p.Arg259His	20	0		133	20	NM_001120	0	0	37	47	10	Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493496	0.26774	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	4.91	-0.204	0.13200	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.220796	0.44688	N	0.000431	T	0.41650	0.1168	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.18863	0.008;0.016;0.031;0.005	B;B;B;B	0.14023	0.007;0.01;0.007;0.007	T	0.21245	-1.0251	10	0.35671	T	0.21	-17.8465	9.1596	0.37014	0.0:0.5975:0.0:0.4025	.	259;259;259;259	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	H	259	ENSP00000426907:R259H;ENSP00000347619:R259H;ENSP00000332646:R259H;ENSP00000425757:R259H;ENSP00000423402:R259H	ENSP00000332646:R259H	R	-	2	0	MFSD10	2903596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.734000	0.04893	-0.451000	0.07097	-0.156000	0.13503	CGT	.		0.682	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120	
ADRA2C	152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	3768709	3768709	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:3768709G>A	ENST00000330055.5	+	1	585	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	ADRA2C_ENST00000509482.1_Missense_Mutation_p.V126M	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	126					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V126L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGGTGCGGCGTGTACCTGGC	0.632																																					p.V126M	Esophageal Squamous(12;454 628 4517 14479)	.											.	ADRA2C-522	1	Substitution - Missense(1)	lung(1)	c.G376A						.						82.0	82.0	82.0					4																	3768709		2203	4300	6503	SO:0001583	missense	152	exon1			TGCGGCGTGTACC	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.376G>A	4.37:g.3768709G>A	ENSP00000386069:p.Val126Met	25	0		178	45	NM_000683	0	0	3	3	0	P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271824	0.40194	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.39592	1.07;1.07	3.21	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21103	0.0508	N	0.26130	0.795	0.39426	D	0.967009	P;P	0.42584	0.784;0.642	B;B	0.34824	0.19;0.169	T	0.06058	-1.0848	9	0.32370	T	0.25	.	3.1662	0.06536	0.4381:0.0:0.5619:0.0	.	126;126	D6RGL0;P18825	.;ADA2C_HUMAN	M	126	ENSP00000426268:V126M;ENSP00000386069:V126M	ENSP00000386069:V126M	V	+	1	0	ADRA2C	3738507	0.998000	0.40836	0.993000	0.49108	0.764000	0.43329	2.786000	0.47790	1.631000	0.50456	0.561000	0.74099	GTG	.		0.632	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
CRMP1	1400	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	5844857	5844857	+	Missense_Mutation	SNP	G	G	A	rs142255876		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:5844857G>A	ENST00000397890.2	-	7	867	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.T216M|CRMP1_ENST00000324989.7_Missense_Mutation_p.T332M	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	218					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTCGGGACCCGTGATGCCCAT	0.537																																					p.T332M		.											.	CRMP1-92	0			c.C995T						.	G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	167.0	142.0	151.0		995,653	4.3	1.0	4	dbSNP_134	151	0,8600		0,0,4300	yes	missense,missense	CRMP1	NM_001014809.1,NM_001313.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	332/687,218/573	5844857	2,13004	2203	4300	6503	SO:0001583	missense	1400	exon7			GGACCCGTGATGC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.653C>T	4.37:g.5844857G>A	ENSP00000380987:p.Thr218Met	216	0		359	31	NM_001014809	0	0	5	6	1	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624377	0.66901	4.54E-4	0.0	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90069	-2.61;-2.61;-2.61	4.32	4.32	0.51571	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.057239	0.64402	D	0.000001	D	0.94791	0.8318	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.992;0.983	D;D;P;P	0.65874	0.939;0.913;0.641;0.726	D	0.95775	0.8812	10	0.87932	D	0	-24.6005	16.364	0.83307	0.0:0.0:1.0:0.0	.	332;216;218;155	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	M	332;218;218;216	ENSP00000321606:T332M;ENSP00000380987:T218M;ENSP00000425742:T216M	ENSP00000321606:T332M	T	-	2	0	CRMP1	5895758	1.000000	0.71417	0.956000	0.39512	0.452000	0.32318	7.250000	0.78287	2.408000	0.81797	0.591000	0.81541	ACG	G|1.000;A|0.000		0.537	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
SORCS2	57537	broad.mit.edu	37	4	7716056	7716056	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:7716056G>A	ENST00000507866.2	+	16	2188	c.2079G>A	c.(2077-2079)gcG>gcA	p.A693A	SORCS2_ENST00000329016.9_Silent_p.A521A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	693					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACGTCGGCGCTCACGTCCC	0.637																																					p.A693A		.											.	SORCS2-91	0			c.G2079A						.						37.0	43.0	41.0					4																	7716056		2070	4201	6271	SO:0001819	synonymous_variant	57537	exon16			GTCGGCGCTCACG	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2079G>A	4.37:g.7716056G>A		75	1		276	13	NM_020777	0	0	0	0	0	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																			.		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
SORCS2	57537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	7738821	7738821	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:7738821G>A	ENST00000507866.2	+	26	3446	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	SORCS2_ENST00000329016.9_Missense_Mutation_p.A942T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GACCGTGTACGCCCAAATGCA	0.622																																					p.A1113T		.											.	SORCS2-91	0			c.G3337A						.						54.0	69.0	64.0					4																	7738821		1898	3650	5548	SO:0001583	missense	57537	exon26			GTGTACGCCCAAA	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3337G>A	4.37:g.7738821G>A	ENSP00000422185:p.Ala1113Thr	125	0		273	110	NM_020777	0	0	3	3	0	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820474	0.50633	.	.	ENSG00000184985	ENST00000507866;ENST00000329016;ENST00000505529	T;T	0.22945	1.93;2.02	4.34	3.48	0.39840	.	0.069551	0.56097	D	0.000027	T	0.42177	0.1191	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.16808	-1.0390	10	0.40728	T	0.16	.	13.6276	0.62176	0.0:0.0:0.8436:0.1564	.	942;1113	B5MED8;Q96PQ0	.;SORC2_HUMAN	T	1113;942;41	ENSP00000422185:A1113T;ENSP00000329124:A942T	ENSP00000329124:A942T	A	+	1	0	SORCS2	7789721	1.000000	0.71417	0.995000	0.50966	0.055000	0.15305	8.655000	0.91098	1.015000	0.39444	0.655000	0.94253	GCC	.		0.622	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
WDR1	9948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	10086077	10086077	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:10086077G>A	ENST00000499869.2	-	9	1222	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	WDR1_ENST00000502702.1_Silent_p.D203D|WDR1_ENST00000382452.2_Silent_p.D343D|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.D203D			O75083	WDR1_HUMAN	WD repeat domain 1	343					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TAATGTGTCCGTCGTGGCTCC	0.552																																					p.D343D		.											.	WDR1-48	0			c.C1029T						.						97.0	103.0	101.0					4																	10086077		1941	4137	6078	SO:0001819	synonymous_variant	9948	exon9			GTGTCCGTCGTGG	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1029C>T	4.37:g.10086077G>A		220	0		324	54	NM_017491	0	0	0	0	0	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	CCDS54740.1																																																																																			.		0.552	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		
FAM184B	27146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	17636715	17636715	+	Missense_Mutation	SNP	C	C	T	rs376901720	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:17636715C>T	ENST00000265018.3	-	16	3018	c.2806G>A	c.(2806-2808)Gca>Aca	p.A936T		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	936										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GGGAATGCTGCGTAGTGAAAT	0.463													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18116	0.0		0.001	False		,,,				2504	0.0				p.A936T		.											.	FAM184B-23	0			c.G2806A						.	C	THR/ALA	2,1382		0,2,690	126.0	121.0	122.0		2806	5.3	0.9	4		122	1,3181		0,1,1590	no	missense	FAM184B	NM_015688.1	58	0,3,2280	TT,TC,CC		0.0314,0.1445,0.0657	benign	936/1061	17636715	3,4563	692	1591	2283	SO:0001583	missense	27146	exon16			ATGCTGCGTAGTG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2806G>A	4.37:g.17636715C>T	ENSP00000265018:p.Ala936Thr	71	0		95	29	NM_015688	0	0	1	1	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829464	0.16749	0.001445	3.14E-4	ENSG00000047662	ENST00000265018	T	0.32753	1.44	6.17	5.34	0.76211	.	0.256123	0.38381	N	0.001705	T	0.22044	0.0531	L	0.31294	0.92	0.35082	D	0.763487	B	0.20261	0.043	B	0.19391	0.025	T	0.20806	-1.0264	10	0.40728	T	0.16	-15.4178	8.5616	0.33514	0.1851:0.7398:0.0:0.0752	.	936	Q9ULE4	F184B_HUMAN	T	936	ENSP00000265018:A936T	ENSP00000265018:A936T	A	-	1	0	FAM184B	17245813	0.831000	0.29352	0.896000	0.35187	0.031000	0.12232	1.464000	0.35288	1.633000	0.50488	-0.137000	0.14449	GCA	.		0.463	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
SLIT2	9353	broad.mit.edu;bcgsc.ca	37	4	20469421	20469421	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:20469421C>T	ENST00000504154.1	+	5	694	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R148C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R148C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R148C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	148					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAAGCTTTCCGTGGGGCAGT	0.269																																					p.R148C		.											.	SLIT2-521	0			c.C442T						.						33.0	36.0	35.0					4																	20469421		2203	4300	6503	SO:0001583	missense	9353	exon5			GCTTTCCGTGGGG	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.442C>T	4.37:g.20469421C>T	ENSP00000422591:p.Arg148Cys	168	0		169	8	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950667	0.73787	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83755	1.83;1.83;1.83;1.83;-1.76	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.88091	0.2813	10	0.87932	D	0	.	20.0189	0.97489	0.0:1.0:0.0:0.0	.	148;148	O94813-3;O94813	.;SLIT2_HUMAN	C	148;148;148;148;148;109	ENSP00000427548:R148C;ENSP00000422591:R148C;ENSP00000273739:R148C;ENSP00000422261:R148C;ENSP00000426356:R109C	ENSP00000273739:R148C	R	+	1	0	SLIT2	20078519	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	4.721000	0.61951	2.834000	0.97654	0.650000	0.86243	CGT	.		0.269	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PPARGC1A	10891	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	23803958	23803958	+	Missense_Mutation	SNP	C	C	T	rs539338812		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:23803958C>T	ENST00000264867.2	-	11	2149	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	677	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATAAATCACACGGCGCTCTTC	0.507													c|||	1	0.000199681	0.0	0.0	5008	,	,		16842	0.0		0.0	False		,,,				2504	0.001				p.R677H	Esophageal Squamous(29;694 744 13796 34866 44181)	.											.	PPARGC1A-230	0			c.G2030A						.						95.0	94.0	94.0					4																	23803958		2203	4300	6503	SO:0001583	missense	10891	exon11			ATCACACGGCGCT	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2030G>A	4.37:g.23803958C>T	ENSP00000264867:p.Arg677His	109	1		177	77	NM_013261	0	0	0	0	0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647442	0.67358	.	.	ENSG00000109819	ENST00000264867	T	0.46063	0.88	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81024	-0.1120	10	0.59425	D	0.04	-4.9562	19.0215	0.92917	0.0:1.0:0.0:0.0	.	677	Q9UBK2	PRGC1_HUMAN	H	677	ENSP00000264867:R677H	ENSP00000264867:R677H	R	-	2	0	PPARGC1A	23413056	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.443000	0.80521	2.582000	0.87167	0.457000	0.33378	CGT	.		0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
CCDC149	91050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	24821571	24821571	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:24821571C>T	ENST00000389609.4	-	12	1212	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.D357N|CCDC149_ENST00000508236.1_5'Flank	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	302										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				AGAGTGGGGTCGCTGAACAGT	0.502																																					p.D357N		.											.	CCDC149-68	0			c.G1069A						.						114.0	109.0	111.0					4																	24821571		692	1591	2283	SO:0001583	missense	91050	exon12			TGGGGTCGCTGAA		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1069G>A	4.37:g.24821571C>T	ENSP00000374260:p.Asp357Asn	150	0		253	113	NM_173463	0	0	4	17	13	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934148	0.52866	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116	.	.	.	5.62	5.62	0.85841	.	0.207319	0.42172	D	0.000748	T	0.36690	0.0976	L	0.29908	0.895	0.80722	D	1	P;P	0.46220	0.665;0.874	B;B	0.30572	0.03;0.117	T	0.31888	-0.9927	9	0.37606	T	0.19	-2.9835	16.4093	0.83701	0.0:1.0:0.0:0.0	.	302;357	Q6ZUS6;G5EA04	CC149_HUMAN;.	N	357;357;281	.	ENSP00000371550:D281N	D	-	1	0	CCDC149	24430669	0.996000	0.38824	0.465000	0.27155	0.840000	0.47671	4.421000	0.59848	2.648000	0.89879	0.650000	0.86243	GAC	.		0.502	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463	
FRYL	285527	hgsc.bcm.edu;bcgsc.ca	37	4	48555392	48555394	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:48555392_48555394delCTT	ENST00000503238.1	-	33	4272_4274	c.4273_4275delAAG	c.(4273-4275)aagdel	p.K1425del	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_In_Frame_Del_p.K1425del|FRYL_ENST00000507711.1_In_Frame_Del_p.K1425del|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_In_Frame_Del_p.K1425del			O94915	FRYL_HUMAN	FRY-like	1425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATACAATGACCTTCTTCACCTGT	0.379																																					p.1425_1425del		.											.	FRYL-69	0			c.4273_4275del						.																																			SO:0001651	inframe_deletion	285527	exon36			AATGACCTTCTTC	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4273_4275delAAG	4.37:g.48555395_48555397delCTT	ENSP00000426064:p.Lys1425del	85	0		100	30	NM_015030	0	0	0	0	0	O95640|Q8WTZ5|Q9NT40	In_Frame_Del	DEL	ENST00000503238.1	37	CCDS43227.1																																																																																			.		0.379	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
KDR	3791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	55973911	55973911	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:55973911C>T	ENST00000263923.4	-	10	1700	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	469	Ig-like C2-type 5.				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)			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)	CACCTGGGCTCGTTGGCGCAC	0.512			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.E469K		.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	KDR-2298	0			c.G1405A						.						165.0	141.0	149.0					4																	55973911		2203	4300	6503	SO:0001583	missense	3791	exon10			TGGGCTCGTTGGC	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.1405G>A	4.37:g.55973911C>T	ENSP00000263923:p.Glu469Lys	190	0		282	147	NM_002253	0	0	0	0	0	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888541	0.17540	.	.	ENSG00000128052	ENST00000263923	T	0.75477	-0.94	5.29	-2.4	0.06583	Immunoglobulin subtype (1);Immunoglobulin-like (1);	2.299140	0.01142	N	0.006236	T	0.38321	0.1036	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49476	-0.8936	10	0.05959	T	0.93	.	1.3869	0.02242	0.1184:0.2106:0.2613:0.4097	.	469;469	P35968-2;P35968	.;VGFR2_HUMAN	K	469	ENSP00000263923:E469K	ENSP00000263923:E469K	E	-	1	0	KDR	55668668	0.002000	0.14202	0.000000	0.03702	0.436000	0.31835	0.095000	0.15127	-0.556000	0.06134	-0.657000	0.03884	GAG	.		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CLOCK	9575	hgsc.bcm.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																					p.L123X		.											.	CLOCK-515	2	Deletion - Frameshift(2)	ovary(1)|lung(1)	c.368delT						.						88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575	exon8			ATTGCTAAAAAAA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs	155	1		160	85	NM_004898	0	0	0	0	0	A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	DEL	ENST00000309964.4	37	CCDS3500.1																																																																																			.		0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
HNRNPDL	9987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	83347682	83347682	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:83347682C>T	ENST00000295470.5	-	6	1301	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G257R|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G376R|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	376	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TAATCATATCCGCCATAGCCA	0.358																																					p.G376R		.											.	HNRPDL-91	0			c.G1126A						.						115.0	111.0	113.0					4																	83347682		2203	4300	6503	SO:0001583	missense	9987	exon6			CATATCCGCCATA	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1126G>A	4.37:g.83347682C>T	ENSP00000295470:p.Gly376Arg	116	0		156	70	NM_031372	1	0	79	119	39	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.918527	0.52546	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.88124	-2.34;-2.34	5.74	4.9	0.64082	.	0.109676	0.64402	N	0.000009	D	0.88157	0.6361	M	0.83603	2.65	0.80722	D	1	B	0.19073	0.033	B	0.13407	0.009	D	0.86435	0.1763	10	0.87932	D	0	.	14.8212	0.70074	0.0:0.9312:0.0:0.0688	.	376	O14979	HNRDL_HUMAN	R	376	ENSP00000295470:G376R;ENSP00000422040:G376R	ENSP00000295470:G376R	G	-	1	0	HNRPDL	83566706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.267000	0.43329	1.571000	0.49722	0.561000	0.74099	GGA	.		0.358	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463	
SEC31A	22872	hgsc.bcm.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																					p.I462fs		.											.	SEC31A-268	2	Deletion - Frameshift(2)	lung(2)	c.1384delA						.						89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872	exon11			CATCAATTTTTTT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs	47	1		108	56	NM_001077206	0	0	0	0	0	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	CCDS3596.1																																																																																			.		0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
PKD2	5311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	88996108	88996108	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:88996108C>T	ENST00000508588.1	+	9	1316	c.921C>T	c.(919-921)gcC>gcT	p.A307A	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Silent_p.A307A|PKD2_ENST00000237596.2_Silent_p.A889A			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGGGGTGGCCGAGGTCAGTA	0.468																																					p.A889A		.											.	PKD2-91	0			c.C2667T						.						144.0	112.0	123.0					4																	88996108		2203	4300	6503	SO:0001819	synonymous_variant	5311	exon14			GGTGGCCGAGGTC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.921C>T	4.37:g.88996108C>T		231	0		295	78	NM_000297	0	0	0	0	0	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000508588.1	37																																																																																				.		0.468	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
FAM13A	10144	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	89670963	89670963	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:89670963G>A	ENST00000264344.5	-	16	2245	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	FAM13A_ENST00000503556.1_Missense_Mutation_p.R340W|FAM13A_ENST00000511976.1_Missense_Mutation_p.R266W|FAM13A_ENST00000513837.1_Missense_Mutation_p.R326W|FAM13A_ENST00000395002.2_Missense_Mutation_p.R354W|FAM13A_ENST00000508369.1_Missense_Mutation_p.R354W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	680					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCAAACTTCCGGATCTTCTTT	0.502																																					p.R680W		.											.	FAM13A-70	0			c.C2038T						.						126.0	113.0	117.0					4																	89670963		2203	4300	6503	SO:0001583	missense	10144	exon16			ACTTCCGGATCTT	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2038C>T	4.37:g.89670963G>A	ENSP00000264344:p.Arg680Trp	68	2		133	37	NM_014883	0	0	3	3	0	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301112	0.81136	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.52983	0.64;1.9;1.22;1.24;1.22;1.22	5.64	3.71	0.42584	.	0.112431	0.64402	D	0.000014	T	0.65974	0.2743	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.72982	0.979;0.977;0.977;0.971;0.977;0.971;0.979	T	0.71461	-0.4586	10	0.87932	D	0	.	13.9434	0.64069	0.0:0.0:0.6261:0.3739	.	326;359;266;680;354;340;354	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	W	354;680;340;266;354;326	ENSP00000378450:R354W;ENSP00000264344:R680W;ENSP00000427189:R340W;ENSP00000421914:R266W;ENSP00000421562:R354W;ENSP00000423252:R326W	ENSP00000264344:R680W	R	-	1	2	FAM13A	89889986	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.493000	0.45320	1.541000	0.49316	0.650000	0.86243	CGG	.		0.502	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	138442414	138442414	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:138442414A>G	ENST00000344876.4	-	4	3563	c.3177T>C	c.(3175-3177)agT>agC	p.S1059S	PCDH18_ENST00000412923.2_Silent_p.S1058S|PCDH18_ENST00000510305.1_Silent_p.S270S|PCDH18_ENST00000511115.1_Silent_p.S239S|PCDH18_ENST00000507846.1_Silent_p.S838S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1059	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAAAATGCGTACTGGCTGCCC	0.587																																					p.S1059S		.											.	PCDH18-185	0			c.T3177C						.						43.0	42.0	42.0					4																	138442414		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon4			ATGCGTACTGGCT	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3177T>C	4.37:g.138442414A>G		170	0		267	104	NM_019035	0	0	5	11	6	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																			.		0.587	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
MAP9	79884	broad.mit.edu	37	4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:156273869delT	ENST00000311277.4	-	13	1963	c.1700delA	c.(1699-1701)aagfs	p.K567fs	AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608463.1_RNA|MAP9_ENST00000515654.1_Frame_Shift_Del_p.K543fs|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000593387.2_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	567					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.279																																					p.K567fs		.											.	MAP9-91	0			c.1700delA						.						69.0	69.0	69.0					4																	156273869		2201	4294	6495	SO:0001589	frameshift_variant	79884	exon13			GCTTCCTTTTTTT	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1700delA	4.37:g.156273869delT	ENSP00000310593:p.Lys567fs	8	0		15	6	NM_001039580	0	0	0	0	0	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Frame_Shift_Del	DEL	ENST00000311277.4	37	CCDS35493.1																																																																																			.		0.279	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
GUCY1B3	2983	broad.mit.edu;bcgsc.ca	37	4	156680986	156680986	+	Silent	SNP	C	C	T	rs372884496		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:156680986C>T	ENST00000264424.8	+	2	133	c.51C>T	c.(49-51)taC>taT	p.Y17Y	GUCY1B3_ENST00000503520.1_Silent_p.Y17Y|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000502959.1_Silent_p.Y17Y|GUCY1B3_ENST00000505764.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	17					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCCGCAATTACGGCCCCGAGG	0.647																																					p.Y17Y		.											.	.	0			c.C51T						.	C		0,3928		0,0,1964	57.0	61.0	60.0		51	2.3	1.0	4		60	1,8305		0,1,4152	no	coding-synonymous	GUCY1B3	NM_000857.2		0,1,6116	TT,TC,CC		0.012,0.0,0.0082		17/620	156680986	1,12233	1964	4153	6117	SO:0001819	synonymous_variant	2983	exon2			CAATTACGGCCCC	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.51C>T	4.37:g.156680986C>T		127	1		241	121	NM_000857	0	0	0	0	0	B7Z426|Q86WY5	Silent	SNP	ENST00000264424.8	37	CCDS47154.1																																																																																			.		0.647	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
FRG1	2483	bcgsc.ca	37	4	190878626	190878626	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:190878626G>A	ENST00000226798.4	+	6	728	c.506G>A	c.(505-507)aGt>aAt	p.S169N	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S169N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAAGCAAAAAGTAAAACAGCA	0.363																																					p.S169N		.											.	FRG1-90	1	Substitution - Missense(1)	skin(1)	c.G506A						.						49.0	46.0	47.0					4																	190878626		2184	4282	6466	SO:0001583	missense	2483	exon6			CAAAAAGTAAAAC	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.506G>A	4.37:g.190878626G>A	ENSP00000226798:p.Ser169Asn	921	16		929	58	NM_004477	0	0	123	123	0	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	14.80	2.642895	0.47153	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.48522	1.77;0.81	4.19	2.41	0.29592	Actin cross-linking (1);	0.160510	0.64402	N	0.000002	T	0.36552	0.0971	N	0.17723	0.515	0.45777	D	0.998661	P	0.35982	0.531	P	0.45406	0.479	T	0.07578	-1.0765	10	0.30854	T	0.27	0.1847	7.6816	0.28518	0.219:0.0:0.781:0.0	.	169	Q14331	FRG1_HUMAN	N	169;41;106	ENSP00000226798:S169N;ENSP00000435943:S106N	ENSP00000226798:S169N	S	+	2	0	FRG1	191115620	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.784000	0.38674	0.340000	0.23745	0.454000	0.30748	AGT	G|0.500;A|0.500		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
CLPTM1L	81037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	1339097	1339097	+	Silent	SNP	C	C	T	rs376216239		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:1339097C>T	ENST00000320895.5	-	4	734	c.477G>A	c.(475-477)ccG>ccA	p.P159P	CLPTM1L_ENST00000320927.6_Silent_p.P159P|CLPTM1L_ENST00000507807.1_Silent_p.P26P	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	159					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGGCACTCGTCGGCTTCTTCT	0.607																																					p.P159P		.											.	CLPTM1L-153	0			c.G477A						.	C		0,4406		0,0,2203	49.0	44.0	46.0		477	-5.6	0.0	5		46	1,8599		0,1,4299	no	coding-synonymous	CLPTM1L	NM_030782.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		159/539	1339097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81037	exon4			ACTCGTCGGCTTC	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.477G>A	5.37:g.1339097C>T		133	0		322	160	NM_030782	0	0	1	1	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																			.		0.607	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	
ADAMTS16	170690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	5146290	5146290	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:5146290G>A	ENST00000274181.7	+	3	361	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.V75M|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	75					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGCGATTACGTGTCCCATGA	0.527																																					p.V75M		.											.	ADAMTS16-275	0			c.G223A						.						61.0	61.0	61.0					5																	5146290		2036	4181	6217	SO:0001583	missense	170690	exon3			GATTACGTGTCCC	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.223G>A	5.37:g.5146290G>A	ENSP00000274181:p.Val75Met	150	1		221	80	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557557	0.45590	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05580	3.42;3.42	5.55	1.93	0.25924	Peptidase M12B, propeptide (1);	0.309061	0.29192	N	0.012864	T	0.04815	0.0130	L	0.39147	1.195	0.33043	D	0.531778	P;P;P	0.43169	0.524;0.633;0.8	B;B;B	0.39379	0.058;0.143;0.298	T	0.30297	-0.9983	10	0.45353	T	0.12	.	2.6937	0.05128	0.3659:0.0:0.4339:0.2002	.	75;75;75	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	75	ENSP00000274181:V75M;ENSP00000421631:V75M	ENSP00000274181:V75M	V	+	1	0	ADAMTS16	5199290	0.785000	0.28726	0.645000	0.29479	0.850000	0.48378	1.228000	0.32588	0.677000	0.31305	0.563000	0.77884	GTG	.		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
TRIO	7204	hgsc.bcm.edu	37	5	14488142	14488142	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:14488142G>A	ENST00000344204.4	+	48	7429	c.7405G>A	c.(7405-7407)Ggc>Agc	p.G2469S	TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344135.5_5'Flank	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2469					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)			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)					CCCTTCTCTCGGCAAGGAGCC	0.741																																					p.G2469S		.											.	TRIO-562	0			c.G7405A						.																																			SO:0001583	missense	7204	exon48			TCTCTCGGCAAGG	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.7405G>A	5.37:g.14488142G>A	ENSP00000339299:p.Gly2469Ser	2	0		22	7	NM_007118	0	0	3	8	5	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	g	17.69	3.451224	0.63290	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T	0.63913	-0.07	4.66	4.66	0.58398	.	0.212294	0.40908	D	0.000987	T	0.50377	0.1612	L	0.29908	0.895	0.80722	D	1	P;P	0.44044	0.501;0.825	B;B	0.41299	0.056;0.353	T	0.47774	-0.9091	10	0.09590	T	0.72	.	17.95	0.89050	0.0:0.0:1.0:0.0	.	2469;2469	O75962-5;O75962	.;TRIO_HUMAN	S	2469;2156	ENSP00000339299:G2469S	ENSP00000339299:G2469S	G	+	1	0	TRIO	14541142	1.000000	0.71417	0.779000	0.31741	0.558000	0.35554	7.340000	0.79292	2.310000	0.77875	0.556000	0.70494	GGC	.		0.741	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
MYO10	4651	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	16701081	16701081	+	Silent	SNP	C	C	T	rs150139256	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:16701081C>T	ENST00000513610.1	-	25	3877	c.3423G>A	c.(3421-3423)gcG>gcA	p.A1141A	MYO10_ENST00000427430.2_Silent_p.A498A|MYO10_ENST00000505695.1_Silent_p.A480A|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000515803.1_Silent_p.A480A|MYO10_ENST00000274203.9_Silent_p.A498A	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1141					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCGAGGACTGCGCCCCCTCAG	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16592	0.0		0.0	False		,,,				2504	0.0				p.A1141A		.											.	MYO10-3	0			c.G3423A						.	C		1,4111		0,1,2055	14.0	15.0	15.0		3423	-9.7	0.0	5	dbSNP_134	15	0,8288		0,0,4144	no	coding-synonymous	MYO10	NM_012334.2		0,1,6199	TT,TC,CC		0.0,0.0243,0.0081		1141/2059	16701081	1,12399	2056	4144	6200	SO:0001819	synonymous_variant	4651	exon25			GGACTGCGCCCCC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3423G>A	5.37:g.16701081C>T		129	2		278	124	NM_012334	0	0	0	1	1	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			C|0.999;T|0.000		0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
DROSHA	29102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	31526976	31526976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:31526976G>A	ENST00000511367.2	-	4	308	c.64C>T	c.(64-66)Cga>Tga	p.R22*	DROSHA_ENST00000513349.1_Nonsense_Mutation_p.R22*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.R22*|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.R22*|DROSHA_ENST00000504361.1_5'UTR	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	22	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGTCCTCCTCGTCCTCGGGGA	0.478																																					p.R22X		.											.	DROSHA-227	0			c.C64T						.						49.0	50.0	50.0					5																	31526976		1968	4148	6116	SO:0001587	stop_gained	29102	exon4			CTCCTCGTCCTCG	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.64C>T	5.37:g.31526976G>A	ENSP00000425979:p.Arg22*	65	0		60	12	NM_013235	0	0	3	3	0	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660923	0.88154	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	.	.	.	4.69	3.8	0.43715	.	0.335681	0.24048	N	0.042028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5257	14.0446	0.64698	0.0:0.0:0.8478:0.1522	.	.	.	.	X	22;22;22;22;15;15;22	.	ENSP00000265075:R15X	R	-	1	2	DROSHA	31562733	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	2.435000	0.44811	0.952000	0.37798	0.563000	0.77884	CGA	.		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
C1QTNF3	114899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	34043081	34043081	+	Intron	SNP	G	G	A	rs143587337		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:34043081G>A	ENST00000231338.7	-	1	172				C1QTNF3_ENST00000382065.3_Silent_p.S50S|RP11-1084J3.4_ENST00000382079.3_Intron	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3						cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCCTGGAGCCGCTACGGCCAG	0.493																																					p.S50S		.											.	C1QTNF3-90	0			c.C150T						.	G	,	1,4405	2.1+/-5.4	0,1,2202	141.0	145.0	144.0		,150	4.5	1.0	5	dbSNP_134	144	0,8600		0,0,4300	no	intron,coding-synonymous	C1QTNF3	NM_030945.3,NM_181435.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,50/320	34043081	1,13005	2203	4300	6503	SO:0001627	intron_variant	114899	exon1			GGAGCCGCTACGG	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.84+65C>T	5.37:g.34043081G>A		98	0		167	85	NM_181435	0	0	0	0	0	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	ENST00000231338.7	37	CCDS3904.1																																																																																			G|1.000;A|0.000		0.493	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945	
SLC38A9	153129	broad.mit.edu	37	5	54941671	54941671	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:54941671delA	ENST00000396865.2	-	12	1704	c.1113delT	c.(1111-1113)tttfs	p.F371fs	SLC38A9_ENST00000416547.2_Frame_Shift_Del_p.F247fs|SLC38A9_ENST00000515629.1_Frame_Shift_Del_p.F308fs|SLC38A9_ENST00000318672.3_Frame_Shift_Del_p.F371fs|SLC38A9_ENST00000512595.1_Frame_Shift_Del_p.F308fs|SLC38A9_ENST00000539768.1_Frame_Shift_Del_p.F371fs	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	371					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATTATGAATAAAAAAAGCAA	0.313																																					p.F371fs		.											.	SLC38A9-68	0			c.1113delT						.						94.0	95.0	95.0					5																	54941671		2203	4299	6502	SO:0001589	frameshift_variant	153129	exon12			ATGAATAAAAAAA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1113delT	5.37:g.54941671delA	ENSP00000380074:p.Phe371fs	34	0		35	9	NM_173514	0	0	0	0	0	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Frame_Shift_Del	DEL	ENST00000396865.2	37	CCDS3968.1																																																																																			.		0.313	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514	
MAP3K1	4214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	56189493	56189493	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:56189493C>T	ENST00000399503.3	+	20	4525	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1509					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCAGTCTTTCGTACTACATG	0.423																																					p.R1509C		.											.	MAP3K1-956	0			c.C4525T						.						83.0	75.0	78.0					5																	56189493		1905	4140	6045	SO:0001583	missense	4214	exon20			GTCTTTCGTACTA	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4525C>T	5.37:g.56189493C>T	ENSP00000382423:p.Arg1509Cys	186	0		233	111	NM_005921	0	0	1	2	1		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105027	0.77096	.	.	ENSG00000095015	ENST00000399503	T	0.26067	1.76	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37753	-0.9692	10	0.87932	D	0	.	20.4375	0.99097	0.0:1.0:0.0:0.0	.	1509	Q13233	M3K1_HUMAN	C	1509	ENSP00000382423:R1509C	ENSP00000382423:R1509C	R	+	1	0	MAP3K1	56225250	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.950000	0.63603	2.906000	0.99361	0.655000	0.94253	CGT	.		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
ELOVL7	79993	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	60062450	60062450	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:60062450C>T	ENST00000508821.1	-	6	658	c.344G>A	c.(343-345)cGt>cAt	p.R115H	ELOVL7_ENST00000505959.1_Missense_Mutation_p.R102H|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R115H|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R115H	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	115					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CCAGCAGGTACGTGCCATCTG	0.299																																					p.R115H		.											.	ELOVL7-90	0			c.G344A						.						92.0	90.0	91.0					5																	60062450		2203	4300	6503	SO:0001583	missense	79993	exon5			CAGGTACGTGCCA	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.344G>A	5.37:g.60062450C>T	ENSP00000424123:p.Arg115His	221	1		240	103	NM_001104558	0	0	0	0	0	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	c	7.172	0.587772	0.13812	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.44	1.11	0.20524	.	0.591186	0.18851	N	0.129412	T	0.16981	0.0408	L	0.43923	1.385	0.19300	N	0.99998	B;B	0.22746	0.074;0.03	B;B	0.24269	0.052;0.032	T	0.20338	-1.0278	10	0.32370	T	0.25	-0.1257	10.0174	0.42022	0.0:0.7177:0.0:0.2823	.	102;115	D6RHD0;A1L3X0	.;ELOV7_HUMAN	H	115;115;115;102;115;115	ENSP00000424123:R115H;ENSP00000411255:R115H;ENSP00000402634:R115H;ENSP00000421043:R102H;ENSP00000426400:R115H;ENSP00000424081:R115H	ENSP00000402634:R115H	R	-	2	0	ELOVL7	60098207	0.032000	0.19561	0.165000	0.22776	0.022000	0.10575	0.397000	0.20883	0.011000	0.14865	-0.127000	0.14921	CGT	.		0.299	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1		
ELOVL7	79993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	60067887	60067887	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:60067887G>A	ENST00000508821.1	-	4	412	c.98C>T	c.(97-99)tCg>tTg	p.S33L	ELOVL7_ENST00000505959.1_Missense_Mutation_p.S20L|ELOVL7_ENST00000425382.1_Missense_Mutation_p.S33L|ELOVL7_ENST00000438340.1_Missense_Mutation_p.S33L	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	33					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TGGCAGAGGCGAGGACATGAG	0.438																																					p.S33L		.											.	ELOVL7-90	0			c.C98T						.						53.0	49.0	51.0					5																	60067887		2203	4300	6503	SO:0001583	missense	79993	exon3			AGAGGCGAGGACA	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.98C>T	5.37:g.60067887G>A	ENSP00000424123:p.Ser33Leu	162	0		262	56	NM_001104558	0	0	2	2	0	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887628	0.91814	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.86	5.86	0.93980	.	0.193306	0.46145	D	0.000301	T	0.66954	0.2842	H	0.98178	4.165	0.58432	D	0.999996	D;D	0.63880	0.993;0.993	P;P	0.60173	0.87;0.87	T	0.79303	-0.1859	10	0.87932	D	0	-7.9158	20.5632	0.99335	0.0:0.0:1.0:0.0	.	20;33	D6RHD0;A1L3X0	.;ELOV7_HUMAN	L	33;33;33;20;33;33	ENSP00000424123:S33L;ENSP00000411255:S33L;ENSP00000402634:S33L;ENSP00000421043:S20L;ENSP00000426400:S33L;ENSP00000424081:S33L	ENSP00000402634:S33L	S	-	2	0	ELOVL7	60103644	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	TCG	.		0.438	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1		
ZSWIM6	57688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	60839386	60839386	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:60839386G>A	ENST00000252744.5	+	14	2890	c.2890G>A	c.(2890-2892)Gtc>Atc	p.V964I		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	964					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CAGCACCATCGTCCGCCTCCA	0.562																																					p.V964I		.											.	.	0			c.G2890A						.						76.0	66.0	69.0					5																	60839386		692	1591	2283	SO:0001583	missense	57688	exon14			ACCATCGTCCGCC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2890G>A	5.37:g.60839386G>A	ENSP00000252744:p.Val964Ile	141	0		230	55	NM_020928	0	0	1	2	1		Missense_Mutation	SNP	ENST00000252744.5	37	CCDS47215.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.915758	0.52546	.	.	ENSG00000130449	ENST00000252744	T	0.46063	0.88	4.96	4.96	0.65561	.	0.065386	0.64402	D	0.000009	T	0.34658	0.0905	L	0.29908	0.895	0.45676	D	0.998593	P	0.41784	0.762	B	0.39217	0.294	T	0.10314	-1.0635	10	0.33940	T	0.23	-11.6974	18.3987	0.90509	0.0:0.0:1.0:0.0	.	964	Q9HCJ5	ZSWM6_HUMAN	I	964	ENSP00000252744:V964I	ENSP00000252744:V964I	V	+	1	0	ZSWIM6	60875143	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.492000	0.73654	2.579000	0.87056	0.556000	0.70494	GTC	.		0.562	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	65118697	65118697	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:65118697C>A	ENST00000380985.5	+	13	2247	c.2069C>A	c.(2068-2070)cCa>cAa	p.P690Q	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Missense_Mutation_p.P586Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	690						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAACGTGAGCCAAACCAAAAA	0.468																																					p.P690Q		.											.	NLN-90	0			c.C2069A						.						171.0	158.0	162.0					5																	65118697		2203	4300	6503	SO:0001583	missense	57486	exon13			GTGAGCCAAACCA	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2069C>A	5.37:g.65118697C>A	ENSP00000370372:p.Pro690Gln	108	0		168	41	NM_020726	0	0	1	1	0	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361496	0.82353	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.09723	2.95;2.95;2.95	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61729	-0.7003	10	0.87932	D	0	-12.0797	19.9598	0.97242	0.0:1.0:0.0:0.0	.	367;690	Q96K48;Q9BYT8	.;NEUL_HUMAN	Q	690;586;400	ENSP00000370372:P690Q;ENSP00000423214:P586Q;ENSP00000427417:P400Q	ENSP00000370372:P690Q	P	+	2	0	NLN	65154453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.424000	0.73366	2.716000	0.92895	0.655000	0.94253	CCA	.		0.468	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
GFM2	84340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	rs139234343	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:74028894G>A	ENST00000296805.3	-	16	1997	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	GFM2_ENST00000345239.2_Missense_Mutation_p.R467C|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.R514C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14113	0.0		0.001	False		,,,				2504	0.0				p.R514C		.											.	GFM2-90	0			c.C1540T						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	117.0	119.0		1540,1399	5.1	1.0	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	514/780,467/733	74028894	1,13005	2203	4300	6503	SO:0001583	missense	84340	exon16			CTTCACGCTGAAG	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1540C>T	5.37:g.74028894G>A	ENSP00000296805:p.Arg514Cys	77	0		97	18	NM_032380	0	0	11	12	1		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076829	0.76415	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.73469	-0.75;-0.75;-0.75	5.07	5.07	0.68467	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.962	D	0.89490	0.3756	10	0.87932	D	0	-11.3993	18.4471	0.90688	0.0:0.0:1.0:0.0	.	514;467;514	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	514;467;514;514	ENSP00000296805:R514C;ENSP00000296804:R467C;ENSP00000427004:R514C	ENSP00000296805:R514C	R	-	1	0	GFM2	74064650	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.769000	0.68865	2.357000	0.79964	0.557000	0.71058	CGT	G|1.000;A|0.000		0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
THBS4	7060	hgsc.bcm.edu	37	5	79331430	79331430	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:79331430G>A	ENST00000350881.2	+	1	260	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	THBS4_ENST00000511733.1_5'Flank	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	24					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)			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)		AGCGGCAGGCGCCCAGGCCAC	0.741																																					p.A24T		.											.	THBS4-90	0			c.G70A						.						3.0	4.0	4.0					5																	79331430		1717	3603	5320	SO:0001583	missense	7060	exon1			GCAGGCGCCCAGG		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.70G>A	5.37:g.79331430G>A	ENSP00000339730:p.Ala24Thr	0	0		12	9	NM_003248	0	0	0	0	0	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.458198	0.84317	.	.	ENSG00000113296	ENST00000350881	D	0.86497	-2.13	4.05	4.05	0.47172	Laminin G, thrombospondin-type, N-terminal (1);	0.350046	0.28834	N	0.013983	D	0.90858	0.7128	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.89373	0.3676	10	0.35671	T	0.21	-28.7735	11.8943	0.52648	0.0:0.0:1.0:0.0	.	24	P35443	TSP4_HUMAN	T	24	ENSP00000339730:A24T	ENSP00000339730:A24T	A	+	1	0	THBS4	79367186	0.801000	0.28930	0.938000	0.37757	0.943000	0.58893	1.014000	0.29950	2.226000	0.72624	0.558000	0.71614	GCC	.		0.741	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
SERINC5	256987	broad.mit.edu	37	5	79473787	79473787	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:79473787C>T	ENST00000507668.2	-	3	445	c.295G>A	c.(295-297)Gct>Act	p.A99T	SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.A99T|SERINC5_ENST00000509193.1_Missense_Mutation_p.A99T|SERINC5_ENST00000512972.2_Missense_Mutation_p.A99T	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	99					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AAGAAACAAGCCATTCCAAAA	0.378																																					p.A99T		.											.	SERINC5-1	0			c.G295A						.						75.0	77.0	76.0					5																	79473787		1873	4114	5987	SO:0001583	missense	256987	exon3			AACAAGCCATTCC	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.295G>A	5.37:g.79473787C>T	ENSP00000426237:p.Ala99Thr	143	0		151	5	NM_001174071	0	0	11	11	0	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826317	0.90955	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.48	5.48	0.80851	.	0.054147	0.64402	D	0.000001	T	0.42921	0.1224	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.76494	0.999;0.959;0.999;0.999	D;P;D;D	0.71414	0.973;0.835;0.973;0.973	T	0.12218	-1.0556	10	0.41790	T	0.15	.	19.363	0.94448	0.0:1.0:0.0:0.0	.	99;99;99;99	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	T	99;98;99;99;99	ENSP00000426237:A99T;ENSP00000426134:A99T;ENSP00000421665:A99T;ENSP00000420863:A99T	ENSP00000327542:A98T	A	-	1	0	SERINC5	79509543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.826000	0.55738	2.584000	0.87258	0.563000	0.77884	GCT	.		0.378	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276	
NR2F1	7025	bcgsc.ca	37	5	92924033	92924033	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:92924033G>A	ENST00000327111.3	+	2	2561	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	292					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCCGACCGCGTCGTGGCCTT	0.652																																					p.V292I		.											.	NR2F1-227	0			c.G874A						.						36.0	37.0	37.0					5																	92924033		2203	4300	6503	SO:0001583	missense	7025	exon2			GACCGCGTCGTGG	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.874G>A	5.37:g.92924033G>A	ENSP00000325819:p.Val292Ile	53	2		207	101	NM_005654	0	0	0	2	2		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112321	0.94339	.	.	ENSG00000175745	ENST00000327111	D	0.96200	-3.94	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.068934	0.56097	D	0.000025	D	0.95784	0.8628	L	0.52126	1.63	0.80722	D	1	D	0.61080	0.989	P	0.56088	0.791	D	0.95944	0.8949	10	0.54805	T	0.06	.	16.543	0.84407	0.0:0.0:1.0:0.0	.	292	P10589	COT1_HUMAN	I	292	ENSP00000325819:V292I	ENSP00000325819:V292I	V	+	1	0	NR2F1	92949789	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.688000	0.84153	2.205000	0.71048	0.313000	0.20887	GTC	.		0.652	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
FNIP1	96459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	131014837	131014837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:131014837G>A	ENST00000510461.1	-	12	1329	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	FNIP1_ENST00000307968.7_Nonsense_Mutation_p.R384*|FNIP1_ENST00000511848.1_Nonsense_Mutation_p.R412*|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.R367*	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	412					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCCAATTCGTGGCATCGTG	0.358																																					p.R412X		.											.	FNIP1-92	0			c.C1234T						.						80.0	75.0	77.0					5																	131014837		2203	4300	6503	SO:0001587	stop_gained	96459	exon12			CAATTCGTGGCAT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1234C>T	5.37:g.131014837G>A	ENSP00000421985:p.Arg412*	327	0		413	220	NM_133372	0	0	0	0	0	D6RJH5|Q86T47|Q9BUT0	Nonsense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963024	0.92791	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	.	.	.	5.06	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9554	12.6228	0.56614	0.0:0.0:0.6889:0.3111	.	.	.	.	X	384;367;172;412;412	.	ENSP00000310453:R367X	R	-	1	2	FNIP1	131042736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.057000	0.57455	1.205000	0.43262	0.655000	0.94253	CGA	.		0.358	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	rs40274	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2.0	3.0	3.0		371	-0.3	0.0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	0	0		4	4	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873	
JADE2	23338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	133896521	133896521	+	Silent	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:133896521T>C	ENST00000402835.1	+	6	813	c.558T>C	c.(556-558)atT>atC	p.I186I	PHF15_ENST00000282605.4_Silent_p.I186I|PHF15_ENST00000395003.1_Silent_p.I186I|PHF15_ENST00000361895.2_Silent_p.I186I																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)			CCAGGGCCATTGAGACGCAGG	0.607																																					p.I186I		.											.	PHF15-90	0			c.T558C						.						142.0	111.0	122.0					5																	133896521		2203	4300	6503	SO:0001819	synonymous_variant	23338	exon6			GGCCATTGAGACG																												ENST00000402835.1:c.558T>C	5.37:g.133896521T>C		283	0		437	60	NM_015288	0	0	4	4	0		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.607	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
JADE2	23338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	133896569	133896569	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:133896569C>T	ENST00000402835.1	+	6	861	c.606C>T	c.(604-606)tgC>tgT	p.C202C	PHF15_ENST00000282605.4_Silent_p.C202C|PHF15_ENST00000395003.1_Silent_p.C202C|PHF15_ENST00000361895.2_Silent_p.C202C														p.C202C(1)		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)			ATGTTGTCTGCGACGTGTGTC	0.607																																					p.C202C		.											.	PHF15-90	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T						.						238.0	183.0	201.0					5																	133896569		2203	4300	6503	SO:0001819	synonymous_variant	23338	exon6			TGTCTGCGACGTG																												ENST00000402835.1:c.606C>T	5.37:g.133896569C>T		314	0		491	248	NM_015288	0	0	2	12	10		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.607	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	5	135692634	135692634	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:135692634C>T	ENST00000513104.1	-	2	724	c.442G>A	c.(442-444)Gac>Aac	p.D148N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D148N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D148N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	148					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGTCGTCGTCGCGCAGCTCC	0.652																																					p.D148N		.											.	.	0			c.G442A						.						95.0	103.0	100.0					5																	135692634		2202	4299	6501	SO:0001583	missense	57113	exon2			CGTCGTCGCGCAG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.442G>A	5.37:g.135692634C>T	ENSP00000426070:p.Asp148Asn	11	0		162	79	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.51|11.51	1.659035|1.659035	0.29515|0.29515	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|T;T;T	0.78246|0.77620	-1.0;-1.16;-1.09|-1.03;-0.87;-1.11	5.27|5.27	4.41|4.41	0.53225|0.53225	Ankyrin repeat-containing domain (2);|.	0.044917|.	0.85682|.	D|.	0.000000|.	T|T	0.61009|0.61009	0.2313|0.2313	N|N	0.25890|0.25890	0.77|0.77	0.27221|0.27221	N|N	0.959663|0.959663	B;B;B;B|.	0.28082|.	0.001;0.194;0.046;0.2|.	B;B;B;B|.	0.28553|.	0.001;0.04;0.028;0.091|.	T|T	0.50013|0.50013	-0.8877|-0.8877	10|7	0.39692|0.02654	T|T	0.17|1	-27.9109|-27.9109	9.4573|9.4573	0.38762|0.38762	0.0:0.782:0.1434:0.0746|0.0:0.782:0.1434:0.0746	.|.	148;148;148;148|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	N|Q	148|147	ENSP00000347312:D148N;ENSP00000441628:D148N;ENSP00000426070:D148N|ENSP00000330322:R147Q;ENSP00000367720:R147Q;ENSP00000424854:R147Q	ENSP00000265193:D148N|ENSP00000330322:R147Q	D|R	-|-	1|2	0|0	TRPC7|TRPC7	135720533|135720533	1.000000|1.000000	0.71417|0.71417	0.303000|0.303000	0.25071|0.25071	0.339000|0.339000	0.28857|0.28857	4.744000|4.744000	0.62118|0.62118	1.454000|1.454000	0.47793|0.47793	0.655000|0.655000	0.94253|0.94253	GAC|CGA	.		0.652	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
SIL1	64374	broad.mit.edu	37	5	138282960	138282960	+	Missense_Mutation	SNP	C	C	T	rs192255604		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:138282960C>T	ENST00000394817.2	-	10	1371	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Missense_Mutation_p.R411H|SIL1_ENST00000509534.1_Missense_Mutation_p.R418H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	411					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACGGTAGCGGTCCCGGCA	0.682									Marinesco-Sjgren syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		19060	0.0		0.0	False		,,,				2504	0.0				p.R411H		.											.	SIL1-90	0			c.G1232A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44.0	40.0	41.0		1232,1232	-9.5	0.6	5		41	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	SIL1	NM_001037633.1,NM_022464.4	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	411/462,411/462	138282960	1,13003	2203	4299	6502	SO:0001583	missense	64374	exon11	Familial Cancer Database	Marinesco-Sjogren syndrome	CGGTAGCGGTCCC	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1232G>A	5.37:g.138282960C>T	ENSP00000378294:p.Arg411His	14	0		319	9	NM_001037633	0	0	213	219	6	D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.388	1.074738	0.20227	0.0	1.16E-4	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.52057	0.68;0.68;0.68	4.75	-9.5	0.00584	Armadillo-type fold (1);	0.801389	0.12111	N	0.498576	T	0.28067	0.0692	L	0.41236	1.265	0.24605	N	0.993756	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.10870	-1.0611	10	0.37606	T	0.19	0.1272	7.4986	0.27505	0.0887:0.583:0.0891:0.2392	.	418;411	D6REA1;Q9H173	.;SIL1_HUMAN	H	411;411;418	ENSP00000378294:R411H;ENSP00000265195:R411H;ENSP00000426858:R418H	ENSP00000265195:R411H	R	-	2	0	SIL1	138310859	0.382000	0.25148	0.600000	0.28864	0.378000	0.30076	-0.574000	0.05868	-1.461000	0.01909	-1.587000	0.00848	CGC	C|0.999;T|0.000		0.682	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	
TMEM173	340061	ucsc.edu;bcgsc.ca	37	5	138861257	138861257	+	Silent	SNP	C	C	T	rs149842998	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:138861257C>T	ENST00000330794.4	-	3	366	c.33G>A	c.(31-33)ccG>ccA	p.P11P	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	11					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCTGGGACACGGGATGGATG	0.627													C|||	25	0.00499201	0.0008	0.0	5008	,	,		19729	0.0		0.001	False		,,,				2504	0.0235				p.P11P		.											.	TMEM173-69	0			c.G33A						.	C		1,4403		0,1,2201	31.0	32.0	32.0		33	-7.5	0.0	5	dbSNP_134	32	10,8590		0,10,4290	no	coding-synonymous	TMEM173	NM_198282.2		0,11,6491	TT,TC,CC		0.1163,0.0227,0.0846		11/380	138861257	11,12993	2202	4300	6502	SO:0001819	synonymous_variant	340061	exon3			GGGACACGGGATG		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.33G>A	5.37:g.138861257C>T		278	3		450	242	NM_198282	0	0	0	0	0	A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Silent	SNP	ENST00000330794.4	37	CCDS4215.1																																																																																			C|0.999;T|0.001		0.627	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282	
WDR55	54853	hgsc.bcm.edu;bcgsc.ca	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140049102delA	ENST00000358337.5	+	7	1252	c.1015delA	c.(1015-1017)aaafs	p.K341fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	341					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592																																					p.K339fs		.											.	WDR55-91	1	Deletion - Frameshift(1)	large_intestine(1)	c.1015delA						.						43.0	45.0	45.0					5																	140049102		2203	4300	6503	SO:0001589	frameshift_variant	54853	exon7			CGGCGCAAAAAAA	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1015delA	5.37:g.140049102delA	ENSP00000351100:p.Lys341fs	250	2		436	209	NM_017706	0	0	0	0	0	Q9NXK4	Frame_Shift_Del	DEL	ENST00000358337.5	37	CCDS4235.1																																																																																			.		0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140181912	140181912	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140181912G>A	ENST00000522353.2	+	1	1130	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R377H|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	377	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)			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)			GTGTCCGACCGCGACTCAGGA	0.488																																					p.R377H		.											.	PCDHA3-98	0			c.G1130A						.						122.0	115.0	117.0					5																	140181912		2203	4300	6503	SO:0001583	missense	56145	exon1			CCGACCGCGACTC	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.1130G>A	5.37:g.140181912G>A	ENSP00000429808:p.Arg377His	221	0		451	97	NM_031497	0	0	1	1	0	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	4.015	0.000090	0.07819	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52754	0.65;0.65	4.79	-1.77	0.07982	Cadherin (4);Cadherin-like (1);	1.122770	0.07054	N	0.832419	T	0.54175	0.1842	M	0.71581	2.175	0.09310	N	1	P;P	0.38440	0.631;0.546	B;P	0.49332	0.136;0.607	T	0.53472	-0.8434	10	0.62326	D	0.03	.	4.1649	0.10301	0.2193:0.0:0.3853:0.3954	.	377;377	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	377	ENSP00000429808:R377H;ENSP00000434086:R377H	ENSP00000429808:R377H	R	+	2	0	PCDHA3	140162096	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.750000	0.04808	-0.668000	0.05296	-0.518000	0.04402	CGC	.		0.488	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA7	56141	broad.mit.edu;bcgsc.ca	37	5	140214422	140214422	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140214422T>C	ENST00000525929.1	+	1	454	c.454T>C	c.(454-456)Ttt>Ctt	p.F152L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F152L	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	152	Cadherin 2. {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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTCGGTTTCCACTAGA	0.557																																					p.F152L	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.T454C						.						47.0	46.0	46.0					5																	140214422		2203	4292	6495	SO:0001583	missense	56141	exon1			TCTCGGTTTCCAC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.454T>C	5.37:g.140214422T>C	ENSP00000436426:p.Phe152Leu	517	0		782	26	NM_031852	0	0	0	0	0	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039774	0.55003	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.47177	0.85;0.85	4.17	3.0	0.34707	Cadherin (3);Cadherin-like (1);	0.262657	0.19388	N	0.115497	T	0.63850	0.2546	M	0.82056	2.57	0.29860	N	0.827694	P;P	0.40266	0.71;0.572	P;P	0.55577	0.459;0.779	T	0.63225	-0.6685	10	0.72032	D	0.01	.	9.39	0.38367	0.0:0.0862:0.0:0.9138	.	152;152	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	152	ENSP00000436426:F152L;ENSP00000367365:F152L	ENSP00000367365:F152L	F	+	1	0	PCDHA7	140194606	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	4.113000	0.57851	0.583000	0.29574	0.374000	0.22700	TTT	.		0.557	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHA13	56136	hgsc.bcm.edu	37	5	140263870	140263870	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140263870G>A	ENST00000289272.2	+	1	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G673S|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	673	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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAAGCGCC	0.662																																					p.G673S	Melanoma(147;1739 1852 5500 27947 37288)	.											.	PCDHA13-75	0			c.G2017A						.						55.0	51.0	52.0					5																	140263870		2203	4299	6502	SO:0001583	missense	56136	exon1			GAGAGCGGCCAAG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2017G>A	5.37:g.140263870G>A	ENSP00000289272:p.Gly673Ser	4	0		129	31	NM_031865	0	0	0	0	0	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049978	0.07407	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.48201	0.82;0.89	4.08	3.21	0.36854	Cadherin (2);	.	.	.	.	T	0.28366	0.0701	N	0.17872	0.535	0.09310	N	1	B;B;B	0.32693	0.181;0.38;0.276	B;B;B	0.29524	0.014;0.014;0.103	T	0.11131	-1.0600	9	0.14252	T	0.57	.	9.8181	0.40865	0.0974:0.0:0.9026:0.0	.	673;673;673	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	673	ENSP00000386821:G673S;ENSP00000289272:G673S	ENSP00000289272:G673S	G	+	1	0	PCDHA13	140244054	0.872000	0.30054	0.877000	0.34402	0.026000	0.11368	0.000000	0.12993	0.915000	0.36847	-0.140000	0.14226	GGC	.		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB5	26167	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140515676	140515676	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140515676G>A	ENST00000231134.5	+	1	877	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGGGCTCCGCCCAGGTCCG	0.552																																					p.P220P		.											.	PCDHB5-95	0			c.G660A						.						80.0	89.0	86.0					5																	140515676		2203	4300	6503	SO:0001819	synonymous_variant	26167	exon1			GGCTCCGCCCAGG	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.660G>A	5.37:g.140515676G>A		112	2		201	56	NM_015669	0	0	1	1	0	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																			.		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB12	56124	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140589396	140589396	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140589396C>A	ENST00000239450.2	+	1	1106	c.917C>A	c.(916-918)cCt>cAt	p.P306H	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	306	Cadherin 3. {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)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAACAGCACCTTTGGATTTT	0.373																																					p.P306H		.											.	PCDHB12-93	0			c.C917A						.						66.0	70.0	69.0					5																	140589396		2203	4300	6503	SO:0001583	missense	56124	exon1			CAGCACCTTTGGA	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.917C>A	5.37:g.140589396C>A	ENSP00000239450:p.Pro306His	88	1		92	19	NM_018932	0	0	0	1	1	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.986813	0.00443	.	.	ENSG00000120328	ENST00000239450	T	0.01745	4.66	4.06	-1.91	0.07641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	L	0.39085	1.19	0.09310	N	0.999998	P	0.38617	0.64	P	0.48598	0.583	T	0.44314	-0.9336	9	0.42905	T	0.14	.	0.965	0.01403	0.4541:0.2067:0.1162:0.2229	.	306	Q9Y5F1	PCDBC_HUMAN	H	306	ENSP00000239450:P306H	ENSP00000239450:P306H	P	+	2	0	PCDHB12	140569580	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.977000	0.01495	-0.075000	0.12798	0.491000	0.48974	CCT	.		0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB13	56123	hgsc.bcm.edu	37	5	140595625	140595625	+	Missense_Mutation	SNP	G	G	A	rs2910005	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140595625G>A	ENST00000341948.4	+	1	2117	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711													G|||	602	0.120208	0.1036	0.0937	5008	,	,		15211	0.0933		0.1421	False		,,,				2504	0.1667				p.V644I		.											.	PCDHB13-93	0			c.G1930A						.						13.0	15.0	14.0					5																	140595625		1563	3249	4812	SO:0001583	missense	56123	exon1			GTGCTGGTCAAGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1930G>A	5.37:g.140595625G>A	ENSP00000345491:p.Val644Ile	0	0		24	14	NM_018933	0	0	41	46	5	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	263	0.12042124542124542	52	0.10569105691056911	43	0.11878453038674033	53	0.09265734265734266	115	0.1517150395778364	-	23.4	4.405720	0.83230	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.23552	1.9	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00300	0.0009	M	0.63843	1.955	0.27033	P	0.9641952	D	0.71674	0.998	D	0.63283	0.913	T	0.09314	-1.0680	8	0.72032	D	0.01	.	14.5914	0.68368	0.0:0.0:1.0:0.0	rs2910005	644	Q9Y5F0	PCDBD_HUMAN	I	644;644;590	ENSP00000345491:V644I	ENSP00000345491:V644I	V	+	1	0	PCDHB13	140575809	1.000000	0.71417	0.701000	0.30321	0.791000	0.44710	9.501000	0.97979	1.576000	0.49790	0.298000	0.19748	GTC	G|0.500;A|0.500		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGC4	56098	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140865109	140865109	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140865109C>T	ENST00000306593.1	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	123	Cadherin 1. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGAGATCGTAGATGTGA	0.577																																					p.I123I		.											.	PCDHGC4-72	0			c.C369T						.						86.0	85.0	85.0					5																	140865109		2203	4300	6503	SO:0001819	synonymous_variant	56098	exon1			AGAGATCGTAGAT	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.369C>T	5.37:g.140865109C>T		127	0		167	10	NM_018928	0	0	0	0	0	Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																			.		0.577	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
ARAP3	64411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	141051181	141051181	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:141051181G>A	ENST00000239440.4	-	12	1875	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R266W|ARAP3_ENST00000508305.1_Missense_Mutation_p.R526W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	604	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGGGGCTTCCGGAAGAGACCC	0.627																																					p.R604W		.											.	ARAP3-291	0			c.C1810T						.						36.0	37.0	37.0					5																	141051181		2203	4300	6503	SO:0001583	missense	64411	exon12			GCTTCCGGAAGAG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1810C>T	5.37:g.141051181G>A	ENSP00000239440:p.Arg604Trp	129	0		195	86	NM_022481	0	0	1	1	0	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508727	0.64410	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.43688	0.94;0.94;0.94	3.44	3.44	0.39384	.	0.000000	0.64402	U	0.000006	T	0.57961	0.2089	M	0.75264	2.295	0.41117	D	0.985789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.995	T	0.61237	-0.7103	10	0.87932	D	0	.	5.3419	0.15988	0.1089:0.0:0.688:0.2031	.	266;526;604	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	526;604;266	ENSP00000421826:R526W;ENSP00000239440:R604W;ENSP00000421468:R266W	ENSP00000239440:R604W	R	-	1	2	ARAP3	141031365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.270000	0.58896	1.754000	0.51921	0.563000	0.77884	CGG	.		0.627	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
SCGB3A2	117156	bcgsc.ca	37	5	147261610	147261610	+	Silent	SNP	G	G	A	rs34212847	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:147261610G>A	ENST00000296694.4	+	3	372	c.279G>A	c.(277-279)gtG>gtA	p.V93V	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_Silent_p.V48V|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	93						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACTTGGTGTGACATCAAG	0.428													G|||	194	0.038738	0.059	0.0101	5008	,	,		18878	0.0625		0.004	False		,,,				2504	0.0429				p.V93V		.											.	SCGB3A2-153	0			c.G279A						.	G		194,4212	121.3+/-158.8	8,178,2017	126.0	115.0	119.0		279	0.5	0.9	5	dbSNP_126	119	33,8567	24.0+/-70.4	0,33,4267	no	coding-synonymous	SCGB3A2	NM_054023.4		8,211,6284	AA,AG,GG		0.3837,4.4031,1.7453		93/94	147261610	227,12779	2203	4300	6503	SO:0001819	synonymous_variant	117156	exon3			CTTGGTGTGACAT	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.279G>A	5.37:g.147261610G>A		122	1		212	8	NM_054023	0	0	0	0	0		Silent	SNP	ENST00000296694.4	37	CCDS4287.1																																																																																			G|0.980;A|0.020		0.428	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023	
CSF1R	1436	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	149435889	149435889	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:149435889C>T	ENST00000286301.3	-	18	2626	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in HDLS). {ECO:0000269|PubMed:22197934}.		cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCGCTGCCACGTCCCGGTGG	0.572																																					p.V779M		.											.	CSF1R-2640	0			c.G2335A						.						103.0	92.0	96.0					5																	149435889		2203	4300	6503	SO:0001583	missense	1436	exon18			CTGCCACGTCCCG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2335G>A	5.37:g.149435889C>T	ENSP00000286301:p.Val779Met	227	2		416	114	NM_005211	0	0	0	0	0	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439311	0.43326	.	.	ENSG00000182578	ENST00000286301	D	0.89939	-2.59	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.142496	0.31922	N	0.006844	D	0.90642	0.7065	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90315	0.4340	10	0.59425	D	0.04	.	10.3613	0.43996	0.1336:0.6599:0.2065:0.0	.	779	P07333	CSF1R_HUMAN	M	779	ENSP00000286301:V779M	ENSP00000286301:V779M	V	-	1	0	CSF1R	149416082	0.980000	0.34600	0.993000	0.49108	0.250000	0.25880	2.559000	0.45888	2.543000	0.85770	0.462000	0.41574	GTG	.		0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
C1QTNF2	114898	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	159781908	159781908	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:159781908G>C	ENST00000393975.3	-	2	249	c.246C>G	c.(244-246)agC>agG	p.S82R		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	37	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCAGGCAGGCTGCAGACCA	0.677																																					p.S82R		.											.	C1QTNF2-91	0			c.C246G						.						15.0	17.0	17.0					5																	159781908		2201	4298	6499	SO:0001583	missense	114898	exon2			AGGCAGGCTGCAG	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.246C>G	5.37:g.159781908G>C	ENSP00000377545:p.Ser82Arg	14	0		33	27	NM_031908	0	0	0	0	0		Missense_Mutation	SNP	ENST00000393975.3	37	CCDS4351.2	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597773	0.28445	.	.	ENSG00000145861	ENST00000393975	D	0.91351	-2.83	5.01	2.24	0.28232	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.36672	1.1	0.46774	D	0.999199	D	0.76494	0.999	D	0.80764	0.994	D	0.88909	0.3358	10	0.87932	D	0	.	8.493	0.33110	0.3895:0.0:0.6105:0.0	.	37	Q9BXJ5	C1QT2_HUMAN	R	82	ENSP00000377545:S82R	ENSP00000377545:S82R	S	-	3	2	C1QTNF2	159714486	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	1.371000	0.34250	0.147000	0.19030	-0.657000	0.03884	AGC	.		0.677	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2		
NUDCD2	134492	hgsc.bcm.edu	37	5	162886888	162886888	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:162886888C>T	ENST00000302764.4	-	1	258	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	HMMR_ENST00000353866.3_5'Flank|HMMR_ENST00000432118.2_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.G57S|HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	57	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCGCGGCCGCCCACCGACAGC	0.647																																					p.G57S		.											.	NUDCD2-90	0			c.G169A						.						31.0	41.0	38.0					5																	162886888		2200	4293	6493	SO:0001583	missense	134492	exon1			GGCCGCCCACCGA	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.169G>A	5.37:g.162886888C>T	ENSP00000304854:p.Gly57Ser	17	0		99	10	NM_145266	0	0	4	4	0	B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510716	0.44660	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.12984	2.63;2.63	5.86	3.99	0.46301	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.220156	0.45361	D	0.000377	T	0.06781	0.0173	N	0.11756	0.17	0.31248	N	0.694363	B	0.02656	0.0	B	0.04013	0.001	T	0.03103	-1.1072	10	0.51188	T	0.08	-15.7542	5.1733	0.15122	0.1205:0.6134:0.1313:0.1348	.	57	Q8WVJ2	NUDC2_HUMAN	S	57	ENSP00000304854:G57S;ENSP00000430347:G57S	ENSP00000304854:G57S	G	-	1	0	NUDCD2	162819466	0.852000	0.29690	1.000000	0.80357	0.984000	0.73092	0.721000	0.25911	2.778000	0.95560	0.650000	0.86243	GGC	.		0.647	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266	
TENM2	57451	broad.mit.edu;bcgsc.ca	37	5	167643865	167643865	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:167643865G>A	ENST00000518659.1	+	22	4210	c.4171G>A	c.(4171-4173)Ggc>Agc	p.G1391S	TENM2_ENST00000520394.1_Missense_Mutation_p.G1152S|TENM2_ENST00000545108.1_Missense_Mutation_p.G1390S|TENM2_ENST00000403607.2_Missense_Mutation_p.G1215S|TENM2_ENST00000519204.1_Missense_Mutation_p.G1270S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1391					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACCCTGCTGGGCTCCAATGA	0.512																																					p.G1382S		.											.	.	0			c.G4144A						.						90.0	94.0	93.0					5																	167643865		2045	4192	6237	SO:0001583	missense	57451	exon22			CTGCTGGGCTCCA	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4171G>A	5.37:g.167643865G>A	ENSP00000429430:p.Gly1391Ser	169	0		258	11	NM_001122679	0	0	0	0	0	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.236515	0.95240	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.045214	0.85682	D	0.000000	D	0.95755	0.8619	M	0.91561	3.22	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.998;0.971	D;D;P	0.70016	0.967;0.927;0.572	D	0.96423	0.9313	10	0.87932	D	0	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1390;1391;1152	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	1391;1390;1270;1152;1215	ENSP00000429430:G1391S;ENSP00000438635:G1390S;ENSP00000428964:G1270S;ENSP00000427874:G1152S;ENSP00000384905:G1215S	ENSP00000384905:G1215S	G	+	1	0	ODZ2	167576443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	GGC	.		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
FGFR4	2264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176520335	176520335	+	Intron	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:176520335A>G	ENST00000292408.4	+	9	1496				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Missense_Mutation_p.T354A|FGFR4_ENST00000502906.1_Intron|FGFR4_ENST00000393637.1_Missense_Mutation_p.T354A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4						alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCCGACAGGTACTGGGCGCAT	0.667										TSP Lung(9;0.080)																											p.T354A		.											.	FGFR4-1460	0			c.A1060G						.						68.0	72.0	71.0					5																	176520335		2203	4300	6503	SO:0001627	intron_variant	2264	exon8			ACAGGTACTGGGC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1251+3A>G	5.37:g.176520335A>G		68	0		151	56	NM_022963	0	0	0	0	0	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	6.224	0.409441	0.11812	.	.	ENSG00000160867	ENST00000292410;ENST00000393637	T;T	0.78003	-1.14;-1.14	4.25	4.25	0.50352	.	.	.	.	.	T	0.54029	0.1833	N	0.08118	0	0.22827	N	0.998686	B	0.15141	0.012	B	0.11329	0.006	T	0.39941	-0.9589	9	0.09338	T	0.73	.	7.4025	0.26973	0.9:0.0:0.1:0.0	.	354	P22455-2	.	A	354	ENSP00000292410:T354A;ENSP00000377254:T354A	ENSP00000292410:T354A	T	+	1	0	FGFR4	176452941	0.992000	0.36948	0.973000	0.42090	0.740000	0.42216	4.604000	0.61112	1.795000	0.52594	0.459000	0.35465	ACT	.		0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	176638620	176638620	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:176638620C>T	ENST00000439151.2	+	5	3265	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	NSD1_ENST00000347982.4_Missense_Mutation_p.R805C|NSD1_ENST00000354179.4_Missense_Mutation_p.R805C|NSD1_ENST00000361032.4_Missense_Mutation_p.R971C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1074					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACCGAGAACGTGGAGGTTC	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1074C		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.C3220T						.						119.0	129.0	126.0					5																	176638620		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	CGAGAACGTGGAG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3220C>T	5.37:g.176638620C>T	ENSP00000395929:p.Arg1074Cys	314	0		456	35	NM_022455	0	0	0	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005661	0.19199	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92858	-3.01;-3.01;-3.01;-3.12	4.24	-0.708	0.11241	.	0.926897	0.09094	N	0.849508	T	0.78904	0.4357	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.64428	-0.6410	9	.	.	.	.	4.3336	0.11075	0.4048:0.2083:0.3868:0.0	.	805;971;1074	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	805;1074;805;971	ENSP00000346111:R805C;ENSP00000395929:R1074C;ENSP00000343209:R805C;ENSP00000354310:R971C	.	R	+	1	0	NSD1	176571226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.196000	0.17176	0.000000	0.14550	-0.457000	0.05445	CGT	.		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
COL23A1	91522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	177669111	177669111	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:177669111C>T	ENST00000390654.3	-	27	1870	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	505	Collagen-like 5.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTTTCCGGCCGGGGACCCCT	0.662																																					p.G505S		.											.	COL23A1-91	0			c.G1513A						.						16.0	20.0	18.0					5																	177669111		1916	4076	5992	SO:0001583	missense	91522	exon27			TCCGGCCGGGGAC	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1513G>A	5.37:g.177669111C>T	ENSP00000375069:p.Gly505Ser	36	0		156	32	NM_173465	0	0	1	1	0	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129334	0.56721	.	.	ENSG00000050767	ENST00000390654	D	0.99607	-6.27	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000003	D	0.99711	0.9889	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97388	0.9987	10	0.87932	D	0	-7.357	12.914	0.58195	0.0:1.0:0.0:0.0	.	505	Q86Y22	CONA1_HUMAN	S	505	ENSP00000375069:G505S	ENSP00000375069:G505S	G	-	1	0	COL23A1	177601717	1.000000	0.71417	0.925000	0.36789	0.805000	0.45488	5.611000	0.67674	2.095000	0.63458	0.455000	0.32223	GGC	.		0.662	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	
RNF130	55819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179394008	179394008	+	Silent	SNP	C	C	T	rs577094030		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:179394008C>T	ENST00000261947.4	-	7	1346	c.948G>A	c.(946-948)ccG>ccA	p.P316P	RNF130_ENST00000521389.1_Silent_p.P316P|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Silent_p.P316P	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAATTCGGCTGCAAAA	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20024	0.0		0.0	False		,,,				2504	0.0				p.P316P	GBM(24;432 554 38471 39699 51728)	.											.	RNF130-227	0			c.G948A						.						79.0	80.0	79.0					5																	179394008		2203	4300	6503	SO:0001819	synonymous_variant	55819	exon7			CAAATTCGGCTGC	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.948G>A	5.37:g.179394008C>T		90	0		126	59	NM_018434	0	0	0	0	0		Silent	SNP	ENST00000261947.4	37																																																																																				.		0.423	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
PXDC1	221749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	3738356	3738356	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:3738356C>T	ENST00000380283.4	-	2	777	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	95	PX.						phosphatidylinositol binding (GO:0035091)										GTCTCTATGTCGTGGGCTTCC	0.522																																					p.D95N		.											.	.	0			c.G283A						.						255.0	227.0	237.0					6																	3738356		2203	4300	6503	SO:0001583	missense	221749	exon2			CTATGTCGTGGGC	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.283G>A	6.37:g.3738356C>T	ENSP00000369636:p.Asp95Asn	90	0		88	82	NM_183373	0	0	0	1	1	A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534049	0.85812	.	.	ENSG00000168994	ENST00000380283	T	0.39406	1.08	5.14	5.14	0.70334	Phox homologous domain (3);	0.045076	0.85682	D	0.000000	T	0.44993	0.1320	M	0.62723	1.935	0.80722	D	1	D	0.63046	0.992	P	0.55055	0.767	T	0.24083	-1.0170	10	0.27785	T	0.31	-39.1529	17.375	0.87390	0.0:1.0:0.0:0.0	.	95	Q5TGL8	CF145_HUMAN	N	95	ENSP00000369636:D95N	ENSP00000369636:D95N	D	-	1	0	C6orf145	3683355	1.000000	0.71417	0.918000	0.36340	0.918000	0.54935	6.599000	0.74127	2.406000	0.81754	0.555000	0.69702	GAC	.		0.522	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373	
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	12120284	12120284	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:12120284G>A	ENST00000379388.2	+	4	588	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	86					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCTTTCGCCGTTCTTCATAG	0.373																																					p.V86I		.											.	HIVEP1-139	0			c.G256A						.						127.0	121.0	122.0					6																	12120284		1834	4087	5921	SO:0001583	missense	3096	exon4			TTCGCCGTTCTTC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.256G>A	6.37:g.12120284G>A	ENSP00000368698:p.Val86Ile	40	0		47	28	NM_002114	0	0	0	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275786	0.05679	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545	T	0.09911	2.93	5.79	-0.201	0.13212	.	1.179740	0.06645	N	0.761823	T	0.03390	0.0098	M	0.62723	1.935	0.09310	N	1	B	0.25312	0.123	B	0.11329	0.006	T	0.45056	-0.9287	10	0.21014	T	0.42	-0.0428	7.545	0.27761	0.2412:0.4221:0.3367:0.0	.	86	P15822	ZEP1_HUMAN	I	86	ENSP00000368698:V86I	ENSP00000368698:V86I	V	+	1	0	HIVEP1	12228270	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.112000	0.15479	-0.348000	0.08286	-0.719000	0.03609	GTT	.		0.373	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
ATXN1	6310	broad.mit.edu	37	6	16327865	16327867	+	In_Frame_Del	DEL	TGC	TGC	-	rs192671844	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:16327865_16327867delTGC	ENST00000244769.4	-	8	1611_1613	c.675_677delGCA	c.(673-678)cagcac>cac	p.Q225del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q225del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTGCTGAGGtgctgctgctgct	0.655																																					p.225_226del		.											.	ATXN1-93	0			c.675_677del						.																																			SO:0001651	inframe_deletion	6310	exon7			CTGAGGTGCTGCT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677delGCA	6.37:g.16327874_16327876delTGC	ENSP00000244769:p.Gln225del	4	0		44	8	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.655	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ATXN1	6310	hgsc.bcm.edu	37	6	16327906	16327906	+	Missense_Mutation	SNP	C	C	A	rs376233432		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:16327906C>A	ENST00000244769.4	-	8	1572	c.636G>T	c.(634-636)caG>caT	p.Q212H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q212H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	212	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgatgctgat	0.672																																					p.Q212H		.											.	ATXN1-93	0			c.G636T						.						5.0	8.0	7.0					6																	16327906		1594	3492	5086	SO:0001583	missense	6310	exon7			CTGCTGCTGATGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.636G>T	6.37:g.16327906C>A	ENSP00000244769:p.Gln212His	3	0		37	12	NM_001128164	0	0	1	1	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.858	0.342494	0.11069	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.57752	0.38;0.38	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21552	-1.0242	5	0.49607	T	0.09	.	.	.	.	.	212	P54253	ATX1_HUMAN	H	212	ENSP00000244769:Q212H;ENSP00000416360:Q212H	ENSP00000244769:Q212H	Q	-	3	2	ATXN1	16435885	0.148000	0.22702	0.022000	0.16811	0.070000	0.16714	0.333000	0.19768	0.000000	0.14550	0.000000	0.15137	CAG	.		0.672	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
VARS2	57176	bcgsc.ca	37	6	30890885	30890885	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:30890885C>T	ENST00000321897.5	+	23	2822	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	VARS2_ENST00000542001.1_Silent_p.G590G|VARS2_ENST00000541562.1_Silent_p.G760G|VARS2_ENST00000416670.2_Silent_p.G730G|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	730					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCCAGCGGGCGACTTGCACC	0.567																																					p.G760G		.											.	VARS2-26	0			c.C2280T						.						84.0	86.0	85.0					6																	30890885		1510	2708	4218	SO:0001819	synonymous_variant	57176	exon24			AGCGGGCGACTTG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2190C>T	6.37:g.30890885C>T		73	4		82	71	NM_001167734	0	0	0	0	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																			.		0.567	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
HLA-B	3106	hgsc.bcm.edu	37	6	31323953	31323960	+	Frame_Shift_Del	DEL	CCAGCTTG	CCAGCTTG	-	rs113893121|rs151341334|rs151341333|rs1131279|rs137854786|rs1131275|rs1131285	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CCAGCTTG	CCAGCTTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:31323953_31323960delCCAGCTTG	ENST00000412585.2	-	3	631_638	c.603_610delCAAGCTGG	c.(601-612)gacaagctggagfs	p.DKL201fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	201	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCAGCGCGCTCCAGCTTGTCCTTCCCGT	0.654									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.201_204del		.											.	HLA-B-90	0			c.603_610del						.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	CGCGCTCCAGCTT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.603_610delCAAGCTGG	6.37:g.31323953_31323960delCCAGCTTG	ENSP00000399168:p.Asp201fs	47	0		49	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.654	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
VARS	7407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	31759412	31759412	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:31759412C>T	ENST00000375663.3	-	8	1515	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	VARS_ENST00000444930.2_Missense_Mutation_p.A64T	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	359					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCCTGGATGGCGTTGGTGAGT	0.582																																					p.A359T		.											.	VARS-93	0			c.G1075A						.						141.0	100.0	115.0					6																	31759412		1511	2708	4219	SO:0001583	missense	7407	exon8			GGATGGCGTTGGT	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1075G>A	6.37:g.31759412C>T	ENSP00000364815:p.Ala359Thr	179	0		144	123	NM_006295	0	0	0	2	2	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740816	0.69304	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.20332	2.08;2.08	5.43	5.43	0.79202	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.057463	0.64402	D	0.000002	T	0.09905	0.0243	N	0.11724	0.165	0.58432	D	0.999995	D	0.56287	0.975	P	0.50082	0.63	T	0.20472	-1.0274	10	0.17369	T	0.5	-14.6369	16.7219	0.85412	0.0:1.0:0.0:0.0	.	359	P26640	SYVC_HUMAN	T	359;64	ENSP00000364815:A359T;ENSP00000398317:A64T	ENSP00000364815:A359T	A	-	1	0	VARS	31867391	0.999000	0.42202	1.000000	0.80357	0.826000	0.46750	3.915000	0.56409	2.560000	0.86352	0.467000	0.42956	GCC	.		0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	
CYP21A2	1589	bcgsc.ca	37	6	32007865	32007865	+	Silent	SNP	T	T	C	rs11970671		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:32007865T>C	ENST00000418967.2	+	7	980	c.822T>C	c.(820-822)tcT>tcC	p.S274S	CYP21A2_ENST00000435122.2_Silent_p.S244S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	273					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AAGAGGGCTCTGGACAGCTCC	0.612																																					.	Melanoma(174;1669 1998 3915 34700 46447)	.											.	CYP21A2-68	0			.						.						246.0	228.0	235.0					6																	32007865		1511	2709	4220	SO:0001819	synonymous_variant	1589	.			GGGCTCTGGACAG	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.822T>C	6.37:g.32007865T>C		275	5		278	244	.	1	0	7	1106	1098	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	CCDS4735.1																																																																																			.		0.612	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
SYNGAP1	8831	broad.mit.edu;bcgsc.ca	37	6	33415649	33415649	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:33415649G>A	ENST00000418600.2	+	18	3925	c.3824G>A	c.(3823-3825)cGg>cAg	p.R1275Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R1275Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R1216Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1275					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGCTGCGCCGGGACCACCCC	0.607																																					p.R1275Q		.											.	SYNGAP1-48	0			c.G3824A						.						46.0	42.0	43.0					6																	33415649		2099	4028	6127	SO:0001583	missense	8831	exon18			TGCGCCGGGACCA	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3824G>A	6.37:g.33415649G>A	ENSP00000403636:p.Arg1275Gln	70	2		161	71	NM_006772	0	0	1	3	2	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	g	15.49	2.848248	0.51164	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.13420	2.59;2.59;2.59	4.12	4.12	0.48240	.	0.221244	0.29328	N	0.012469	T	0.03520	0.0101	L	0.40543	1.245	0.25841	N	0.984055	P;P	0.47604	0.898;0.876	B;B	0.32533	0.147;0.091	T	0.28996	-1.0026	10	0.72032	D	0.01	.	7.6939	0.28583	0.1135:0.0:0.8865:0.0	.	1275;1275	Q96PV0;Q96PV0-4	SYGP1_HUMAN;.	Q	1275;1275;1259;1216	ENSP00000293748:R1275Q;ENSP00000403636:R1275Q;ENSP00000412475:R1216Q	ENSP00000293748:R1275Q	R	+	2	0	SYNGAP1	33523627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.493000	0.35605	2.148000	0.66965	0.552000	0.68991	CGG	.		0.607	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
C6orf106	64771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	34558353	34558353	+	Missense_Mutation	SNP	C	C	T	rs375408800		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:34558353C>T	ENST00000374023.3	-	5	1129	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	C6orf106_ENST00000374021.1_Missense_Mutation_p.G222S|C6orf106_ENST00000374026.3_Missense_Mutation_p.G230S	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	296										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TAAGACTGGCCGAAGGGGTAA	0.493																																					p.G296S		.											.	C6orf106-93	0			c.G886A						.	C	SER/GLY,SER/GLY	0,4406		0,0,2203	108.0	105.0	106.0		688,886	5.9	1.0	6		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C6orf106	NM_022758.4,NM_024294.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	230/233,296/299	34558353	1,13005	2203	4300	6503	SO:0001583	missense	64771	exon5			ACTGGCCGAAGGG	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.886G>A	6.37:g.34558353C>T	ENSP00000363135:p.Gly296Ser	65	0		76	43	NM_024294	0	0	2	2	0	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624677	0.87560	0.0	1.16E-4	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.9	5.9	0.94986	.	0.305992	0.35555	N	0.003135	T	0.67832	0.2935	L	0.36672	1.1	0.58432	D	0.99999	D;D	0.89917	1.0;0.998	D;P	0.80764	0.994;0.843	T	0.70310	-0.4907	9	0.87932	D	0	0.0482	18.4361	0.90646	0.0:1.0:0.0:0.0	.	230;296	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	S	296;230;222	.	ENSP00000363133:G222S	G	-	1	0	C6orf106	34666331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.999000	0.63934	2.791000	0.96007	0.655000	0.94253	GGC	.		0.493	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758	
SRPK1	6732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	35837637	35837637	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:35837637G>A	ENST00000373825.2	-	11	1318	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	SRPK1_ENST00000423325.2_Missense_Mutation_p.R329C|SRPK1_ENST00000373822.1_Missense_Mutation_p.R238C					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCTGTATCACGTTCCATAAGC	0.358																																					p.R345C	NSCLC(31;67 978 16289 24856 26454)	.											.	SRPK1-359	0			c.C1033T						.						178.0	169.0	172.0					6																	35837637		1898	4112	6010	SO:0001583	missense	6732	exon11			TATCACGTTCCAT	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1033C>T	6.37:g.35837637G>A	ENSP00000362931:p.Arg345Cys	153	0		89	75	NM_003137	0	0	0	1	1		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671366	0.29693	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.27890	1.64;1.64;1.64;1.71	5.96	5.08	0.68730	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.10981	0.0268	L	0.38175	1.15	0.39096	D	0.961185	B;P	0.44006	0.001;0.824	B;B	0.33799	0.001;0.17	T	0.04495	-1.0947	9	0.54805	T	0.06	-1.4858	8.52	0.33270	0.0:0.2644:0.5888:0.1468	.	329;345	B4DS61;Q96SB4	.;SRPK1_HUMAN	C	345;361;329;238;83	ENSP00000362931:R345C;ENSP00000354674:R361C;ENSP00000391069:R329C;ENSP00000362928:R238C	ENSP00000354674:R361C	R	-	1	0	SRPK1	35945615	0.880000	0.30214	0.972000	0.41901	0.746000	0.42486	1.548000	0.36201	2.832000	0.97577	0.655000	0.94253	CGT	.		0.358	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
BRPF3	27154	broad.mit.edu	37	6	36175153	36175153	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:36175153C>G	ENST00000357641.6	+	4	1922	c.1669C>G	c.(1669-1671)Cat>Gat	p.H557D	BRPF3_ENST00000339717.7_Missense_Mutation_p.H557D|BRPF3_ENST00000543502.1_Missense_Mutation_p.H557D|BRPF3_ENST00000534400.1_Missense_Mutation_p.H557D|BRPF3_ENST00000443324.2_Missense_Mutation_p.H557D|BRPF3_ENST00000534694.1_Missense_Mutation_p.H557D	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	557					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAAGCTCCGGCATGACTTGGA	0.572																																					p.H557D		.											.	BRPF3-92	0			c.C1669G						.						64.0	57.0	60.0					6																	36175153		2203	4300	6503	SO:0001583	missense	27154	exon4			CTCCGGCATGACT	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1669C>G	6.37:g.36175153C>G	ENSP00000350267:p.His557Asp	288	0		265	8	NM_015695	0	0	5	5	0	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630729	0.67015	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.18657	2.42;2.43;2.42;2.43;2.42;2.2	4.45	4.45	0.53987	.	0.050494	0.85682	D	0.000000	T	0.21227	0.0511	M	0.62723	1.935	0.80722	D	1	P;P;P	0.51791	0.675;0.675;0.948	B;B;P	0.47044	0.175;0.242;0.535	T	0.03364	-1.1044	10	0.52906	T	0.07	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	557;557;557	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	D	557	ENSP00000350267:H557D;ENSP00000345419:H557D;ENSP00000434501:H557D;ENSP00000445352:H557D;ENSP00000387368:H557D;ENSP00000436504:H557D	ENSP00000345419:H557D	H	+	1	0	BRPF3	36283131	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.694000	0.84235	2.201000	0.70794	0.655000	0.94253	CAT	.		0.572	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
MDGA1	266727	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	37619964	37619964	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:37619964G>A	ENST00000434837.3	-	7	2313	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	MDGA1_ENST00000297153.7_Missense_Mutation_p.R379C|MDGA1_ENST00000505425.1_Missense_Mutation_p.R379C	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	379	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTGGACATGCGTGCCGGCTTG	0.592																																					p.R379C		.											.	MDGA1-91	0			c.C1135T						.						75.0	81.0	79.0					6																	37619964		2100	4204	6304	SO:0001583	missense	266727	exon7			ACATGCGTGCCGG	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1135C>T	6.37:g.37619964G>A	ENSP00000402584:p.Arg379Cys	140	1		115	55	NM_153487	0	0	0	0	0	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944408	0.73672	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.68903	-0.36;-0.36;-0.36	5.25	5.25	0.73442	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000251	T	0.65123	0.2661	M	0.72118	2.19	0.45634	D	0.998569	D	0.69078	0.997	P	0.54815	0.761	T	0.67699	-0.5603	10	0.39692	T	0.17	.	9.1798	0.37134	0.0:0.1462:0.6817:0.1721	.	379	Q8NFP4	MDGA1_HUMAN	C	379	ENSP00000402584:R379C;ENSP00000297153:R379C;ENSP00000422042:R379C	ENSP00000297153:R379C	R	-	1	0	MDGA1	37727942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.715000	0.47210	2.451000	0.82905	0.655000	0.94253	CGC	.		0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
DAAM2	23500	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	39835483	39835483	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:39835483G>A	ENST00000398904.2	+	6	808	c.626G>A	c.(625-627)cGc>cAc	p.R209H	DAAM2_ENST00000538976.1_Missense_Mutation_p.R209H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R209H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGCCTACGCACAGAGAAC	0.582																																					p.R209H		.											.	DAAM2-228	0			c.G626A						.						52.0	55.0	54.0					6																	39835483		2185	4281	6466	SO:0001583	missense	23500	exon6			GCCTACGCACAGA	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.626G>A	6.37:g.39835483G>A	ENSP00000381876:p.Arg209His	106	1		71	62	NM_015345	0	0	1	1	0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172552	0.78452	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86694	-2.16;-2.16;-2.16	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.059530	0.64402	D	0.000003	T	0.69878	0.3160	N	0.16903	0.455	0.80722	D	1	B;B	0.18310	0.022;0.027	B;B	0.17722	0.011;0.019	T	0.68606	-0.5364	10	0.45353	T	0.12	.	14.6387	0.68708	0.0:0.1454:0.8546:0.0	.	209;209	G5EA45;Q86T65	.;DAAM2_HUMAN	H	209	ENSP00000274867:R209H;ENSP00000381876:R209H;ENSP00000437808:R209H	ENSP00000274867:R209H	R	+	2	0	DAAM2	39943461	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.867000	0.56047	2.587000	0.87381	0.561000	0.74099	CGC	.		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
TREM1	54210	bcgsc.ca	37	6	41243926	41243926	+	Missense_Mutation	SNP	G	G	C	rs2234245	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:41243926G>C	ENST00000244709.4	-	4	705	c.642C>G	c.(640-642)ttC>ttG	p.F214L	TREM1_ENST00000334475.6_Missense_Mutation_p.S150C|TREM1_ENST00000589614.1_Intron	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	214			F -> L (in dbSNP:rs2234245).		blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCTTACTCAGGAATCCACCAG	0.547													G|||	140	0.0279553	0.1006	0.0101	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0				p.F214L		.											.	TREM1-577	0			c.C642G						.	G	CYS/SER,LEU/PHE	299,4107	162.5+/-194.5	11,277,1915	174.0	143.0	154.0		449,642	1.0	0.1	6	dbSNP_98	154	7,8593	5.0+/-18.6	0,7,4293	yes	missense,missense	TREM1	NM_001242590.1,NM_018643.3	112,22	11,284,6208	CC,CG,GG		0.0814,6.7862,2.3528	possibly-damaging,possibly-damaging	150/151,214/235	41243926	306,12700	2203	4300	6503	SO:0001583	missense	54210	exon4			ACTCAGGAATCCA	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.642C>G	6.37:g.41243926G>C	ENSP00000244709:p.Phe214Leu	177	2		161	6	NM_018643	0	0	0	0	0	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	46|46	0.021062271062271064|0.021062271062271064	41|41	0.08333333333333333|0.08333333333333333	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.63|18.63	3.665281|3.665281	0.67700|0.67700	0.067862|0.067862	8.14E-4|8.14E-4	ENSG00000124731|ENSG00000124731	ENST00000244709|ENST00000334475	T|T	0.04194|0.14144	3.68|2.53	4.86|4.86	1.0|1.0	0.19881|0.19881	.|.	0.883988|.	0.09394|.	N|.	0.808190|.	T|T	0.04543|0.04543	0.0124|0.0124	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999924|0.999924	B|P	0.02656|0.41546	0.0|0.754	B|B	0.01281|0.41299	0.0|0.353	T|T	0.30650|0.30650	-0.9971|-0.9971	9|8	0.02654|0.87932	T|D	1|0	-4.1779|-4.1779	4.7266|4.7266	0.12943|0.12943	0.2677:0.1574:0.5749:0.0|0.2677:0.1574:0.5749:0.0	rs2234245|rs2234245	214|150	Q9NP99|Q9NP99-2	TREM1_HUMAN|.	L|C	214|150	ENSP00000244709:F214L|ENSP00000334284:S150C	ENSP00000244709:F214L|ENSP00000334284:S150C	F|S	-|-	3|2	2|0	TREM1|TREM1	41351904|41351904	0.593000|0.593000	0.26840|0.26840	0.056000|0.056000	0.19401|0.19401	0.730000|0.730000	0.41778|0.41778	0.268000|0.268000	0.18571|0.18571	0.059000|0.059000	0.16252|0.16252	0.655000|0.655000	0.94253|0.94253	TTC|TCC	G|0.729;C|0.271		0.547	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
CRISP2	7180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49660590	49660590	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:49660590G>T	ENST00000339139.4	-	10	864	c.628C>A	c.(628-630)Ctc>Atc	p.L210I		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	210	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACTTAGGAGATCTTGATAC	0.378																																					p.L210I		.											.	CRISP2-91	0			c.C628A						.						116.0	105.0	109.0					6																	49660590		2203	4300	6503	SO:0001583	missense	7180	exon10			TTAGGAGATCTTG	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.628C>A	6.37:g.49660590G>T	ENSP00000339155:p.Leu210Ile	203	0		168	156	NM_001142408	0	0	0	0	0	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709442	0.15239	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08984	3.03	5.14	-3.89	0.04193	Cysteine-rich secretory protein (1);	1.537360	0.03512	N	0.219739	T	0.03220	0.0094	M	0.77103	2.36	0.18873	N	0.999982	B;B	0.19445	0.036;0.017	B;B	0.24974	0.029;0.057	T	0.46105	-0.9215	10	0.37606	T	0.19	.	0.3694	0.00377	0.3664:0.2303:0.1687:0.2347	.	245;210	Q7Z7B2;P16562	.;CRIS2_HUMAN	I	210;245	ENSP00000339155:L210I	ENSP00000211238:L245I	L	-	1	0	CRISP2	49768549	0.000000	0.05858	0.686000	0.30086	0.312000	0.27988	-1.884000	0.01622	-0.359000	0.08150	-0.158000	0.13435	CTC	.		0.378	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296	
PAQR8	85315	broad.mit.edu	37	6	52268989	52268991	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:52268989_52268991delCTT	ENST00000442253.2	+	2	1152_1154	c.978_980delCTT	c.(976-981)tccttc>tcc	p.F329del	PAQR8_ENST00000360726.3_In_Frame_Del_p.F329del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	329					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGCCTCTCCTTCTTCTTCCTG	0.616																																					p.326_327del		.											.	PAQR8-68	0			c.978_980del						.																																			SO:0001651	inframe_deletion	85315	exon2			CCTCTCCTTCTTC	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.978_980delCTT	6.37:g.52268995_52268997delCTT	ENSP00000406197:p.Phe329del	130	0		115	8	NM_133367	0	0	0	0	0	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	In_Frame_Del	DEL	ENST00000442253.2	37	CCDS4941.1																																																																																			.		0.616	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367	
EYS	346007	broad.mit.edu	37	6	66005970	66005970	+	Silent	SNP	G	G	A	rs9345601	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:66005970G>A	ENST00000370621.3	-	12	2335	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	EYS_ENST00000503581.1_Silent_p.V603V|EYS_ENST00000370616.2_Silent_p.V603V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	603					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AGTCAACATTGACAACACACA	0.383													G|||	2979	0.594848	0.2209	0.7161	5008	,	,		15118	0.8948		0.5915	False		,,,				2504	0.7086				p.V603V		.											.	EYS-660	0			c.C1809T						.	G		416,968		70,276,346	112.0	86.0	94.0		1809	1.5	0.0	6	dbSNP_119	94	1855,1325		535,785,270	no	coding-synonymous	EYS	NM_001142800.1		605,1061,616	AA,AG,GG		41.6667,30.0578,49.759		603/3145	66005970	2271,2293	692	1590	2282	SO:0001819	synonymous_variant	346007	exon12			AACATTGACAACA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1809C>T	6.37:g.66005970G>A		114	0		107	4	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				G|0.404;A|0.596		0.383	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
LMBRD1	55788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	70423650	70423650	+	Missense_Mutation	SNP	C	C	T	rs143758103		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:70423650C>T	ENST00000370577.3	-	9	1031	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	LMBRD1_ENST00000370570.1_Missense_Mutation_p.A195T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	268					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGTTTTAAGGCGCGTTTATCC	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19260	0.001		0.0	False		,,,				2504	0.0				p.A268T		.											.	LMBRD1-91	0			c.G802A						.						109.0	106.0	107.0					6																	70423650		2203	4300	6503	SO:0001583	missense	55788	exon9			TTAAGGCGCGTTT	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.802G>A	6.37:g.70423650C>T	ENSP00000359609:p.Ala268Thr	105	0		46	44	NM_018368	0	0	0	0	0	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.728	0.135462	0.09032	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.21543	2.0;2.0	5.63	1.68	0.24146	.	0.312287	0.39475	N	0.001354	T	0.03305	0.0096	N	0.20530	0.585	0.27558	N	0.950293	B	0.02656	0.0	B	0.04013	0.001	T	0.45352	-0.9267	10	0.18710	T	0.47	-1.3681	7.4857	0.27432	0.1139:0.5977:0.0:0.2885	.	268	Q9NUN5	LMBD1_HUMAN	T	268;195	ENSP00000359609:A268T;ENSP00000359602:A195T	ENSP00000359602:A195T	A	-	1	0	LMBRD1	70480371	0.053000	0.20554	0.661000	0.29709	0.637000	0.38172	0.287000	0.18920	0.360000	0.24265	0.591000	0.81541	GCC	A|0.000;C|1.000;T|0.000		0.378	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
C6orf57	135154	bcgsc.ca	37	6	71289189	71289189	+	Missense_Mutation	SNP	A	A	G	rs1048886	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:71289189A>G	ENST00000370474.3	+	2	161	c.137A>G	c.(136-138)cAg>cGg	p.Q46R		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	46			Q -> R (in dbSNP:rs1048886).		innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						CTTGTCAAACAGTCCCTTAAG	0.403													A|||	992	0.198083	0.3192	0.2161	5008	,	,		14511	0.0833		0.175	False		,,,				2504	0.1636				p.Q46R		.											.	C6orf57-90	0			c.A137G						.	A	ARG/GLN	1319,3087	444.5+/-347.4	207,905,1091	112.0	111.0	111.0	http://www.ncbi.nlm.nih.gov/pubmed?term	137	4.6	0.1	6	dbSNP_86	111	1468,7132	281.2+/-294.9	141,1186,2973	yes	missense	C6orf57	NM_145267.2	43	348,2091,4064	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	17.0698,29.9365,21.4286	probably-damaging	46/109	71289189	2787,10219	2203	4300	6503	SO:0001583	missense	135154	exon2			TCAAACAGTCCCT	BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.137A>G	6.37:g.71289189A>G	ENSP00000359505:p.Gln46Arg	98	0		63	5	NM_145267	0	0	11	11	0	E1P532	Missense_Mutation	SNP	ENST00000370474.3	37	CCDS4972.1	447	0.20467032967032966	165	0.3353658536585366	78	0.2154696132596685	63	0.11013986013986014	141	0.18601583113456466	A	10.53	1.375636	0.24857	0.299365	0.170698	ENSG00000154079	ENST00000370474	T	0.31247	1.5	5.82	4.64	0.57946	.	0.101718	0.64402	D	0.000002	T	0.21307	0.0513	M	0.72894	2.215	0.47511	P	5.519999999999969E-4	B	0.27910	0.193	B	0.34536	0.185	T	0.08229	-1.0732	9	0.54805	T	0.06	-6.9699	10.8459	0.46743	0.8415:0.1584:0.0:0.0	rs1048886;rs3188927;rs56527910;rs61433581;rs1048886	46	Q5VUM1	CF057_HUMAN	R	46	ENSP00000359505:Q46R	ENSP00000359505:Q46R	Q	+	2	0	C6orf57	71345910	0.926000	0.31397	0.062000	0.19696	0.196000	0.23810	4.409000	0.59768	0.989000	0.38761	0.472000	0.43445	CAG	A|0.787;G|0.213		0.403	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1	NM_145267	
DPPA5	340168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	74063857	74063857	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:74063857C>T	ENST00000370370.3	-	1	161	c.92G>A	c.(91-93)cGg>cAg	p.R31Q		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	31	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTTCAGCAGCCGCGTCTGGAC	0.597																																					p.R31Q		.											.	DPPA5-90	0			c.G92A						.						68.0	66.0	67.0					6																	74063857		2203	4300	6503	SO:0001583	missense	340168	exon1			AGCAGCCGCGTCT		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.92G>A	6.37:g.74063857C>T	ENSP00000359396:p.Arg31Gln	79	0		75	32	NM_001025290	0	0	0	0	0	B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.911995	0.17907	.	.	ENSG00000203909	ENST00000370370	T	0.11063	2.81	3.7	0.743	0.18347	K Homology (1);	1.383120	0.04870	N	0.445789	T	0.01800	0.0057	N	0.17674	0.51	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.45220	-0.9276	10	0.24483	T	0.36	.	3.758	0.08593	0.0:0.5542:0.2007:0.2452	.	31	A6NC42	DPPA5_HUMAN	Q	31	ENSP00000359396:R31Q	ENSP00000359396:R31Q	R	-	2	0	DPPA5	74120578	0.008000	0.16893	0.001000	0.08648	0.084000	0.17831	0.050000	0.14120	0.142000	0.18901	0.485000	0.47835	CGG	.		0.597	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290	
BEND3	57673	broad.mit.edu;bcgsc.ca	37	6	107390069	107390069	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:107390069G>A	ENST00000369042.1	-	4	2516	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W	BEND3_ENST00000429433.2_Missense_Mutation_p.R776W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	776	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.R776W(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGCCGCAGCCGCGTGGGGTCC	0.607																																					p.R776W		.											.	BEND3-71	1	Substitution - Missense(1)	large_intestine(1)	c.C2326T						.						52.0	51.0	51.0					6																	107390069		2202	4300	6502	SO:0001583	missense	57673	exon5			GCAGCCGCGTGGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2326C>T	6.37:g.107390069G>A	ENSP00000358038:p.Arg776Trp	51	0		85	6	NM_001080450	0	0	1	1	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286557	0.40494	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.45668	0.89;0.89	5.32	3.46	0.39613	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.56769	1.78	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.54964	-0.8214	10	0.87932	D	0	-23.0874	13.2798	0.60208	0.0:0.0:0.4048:0.5952	.	776	Q5T5X7	BEND3_HUMAN	W	776	ENSP00000358038:R776W;ENSP00000411268:R776W	ENSP00000358038:R776W	R	-	1	2	BEND3	107496762	1.000000	0.71417	0.661000	0.29709	0.695000	0.40330	4.856000	0.62932	0.559000	0.29153	0.455000	0.32223	CGG	.		0.607	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
PLAGL1	5325	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	144269186	144269186	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:144269186G>A	ENST00000360537.2	-	4	2001	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000354765.2_Missense_Mutation_p.R30W|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R30W			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	30					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TTGTACGGCCGCTCCCTGGAG	0.498																																					p.R30W		.											.	PLAGL1-91	0			c.C88T						.						81.0	67.0	72.0					6																	144269186		2203	4300	6503	SO:0001583	missense	5325	exon6			ACGGCCGCTCCCT	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.88C>T	6.37:g.144269186G>A	ENSP00000353734:p.Arg30Trp	278	2		274	253	NM_001080953	0	0	0	0	0	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193799	0.78902	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000367571	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	6.02	5.14	0.70334	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.36358	0.0964	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43507	-0.9387	10	0.87932	D	0	-31.3473	13.3642	0.60674	0.0:0.0:0.7134:0.2866	.	30	Q9UM63	PLAL1_HUMAN	W	30	ENSP00000353734:R30W;ENSP00000346810:R30W;ENSP00000400929:R30W;ENSP00000398409:R30W;ENSP00000376125:R30W;ENSP00000400060:R30W;ENSP00000356543:R30W	ENSP00000346810:R30W	R	-	1	2	PLAGL1	144310879	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.214000	0.51161	1.518000	0.48934	0.655000	0.94253	CGG	.		0.498	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1		
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:151672365delC	ENST00000253332.1	+	3	3028	c.2839delC	c.(2839-2841)cccfs	p.P948fs	AKAP12_ENST00000402676.2_Frame_Shift_Del_p.P948fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.P843fs|AKAP12_ENST00000354675.6_Frame_Shift_Del_p.P850fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	948					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAAGAAGAACCCCCCACGGT	0.522																																					p.P947fs	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.2839delC						.						53.0	59.0	57.0					6																	151672365		2203	4300	6503	SO:0001589	frameshift_variant	9590	exon4			GAAGAACCCCCCA	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2839delC	6.37:g.151672365delC	ENSP00000253332:p.Pro948fs	56	0		33	27	NM_005100	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.522	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
TBP	6908	bcgsc.ca	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																					p.Q78Q		.											.	TBP-91	0			c.G234A						.						13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAGCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A		30	2		89	39	NM_003194	0	0	155	155	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			G|0.500;A|0.500		0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
ELFN1	392617	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	1784620	1784620	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:1784620G>A	ENST00000424383.2	+	3	875	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	ELFN1_ENST00000541472.1_Missense_Mutation_p.G130S|ELFN1_ENST00000561626.1_Missense_Mutation_p.G130S|AC074389.9_ENST00000453348.1_lincRNA			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	130					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						CATGCTGCGCGGCCTGGGCAA	0.632																																					p.G130S		.											.	.	0			c.G388A						.						43.0	39.0	40.0					7																	1784620		692	1591	2283	SO:0001583	missense	392617	exon2			CTGCGCGGCCTGG		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.388G>A	7.37:g.1784620G>A	ENSP00000456548:p.Gly130Ser	33	0		168	14	NM_001128636	0	0	0	0	0	H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	CCDS59046.1																																																																																			.		0.632	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636	
FOXK1	221937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	4799094	4799094	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:4799094G>A	ENST00000328914.4	+	7	1564	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	FOXK1_ENST00000446823.1_Missense_Mutation_p.V359I	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GGCCCCCACCGTCACCATGGT	0.697																																					p.V522I		.											.	FOXK1-516	0			c.G1564A						.						35.0	27.0	30.0					7																	4799094		2196	4296	6492	SO:0001583	missense	221937	exon7			CCCACCGTCACCA	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1564G>A	7.37:g.4799094G>A	ENSP00000328720:p.Val522Ile	17	0		109	37	NM_001037165	0	0	3	4	1		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526452	0.64860	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96802	-3.81;-4.13	5.65	5.65	0.86999	.	0.061325	0.64402	D	0.000004	D	0.94265	0.8158	L	0.60455	1.87	0.53005	D	0.999962	P;P	0.41597	0.756;0.75	B;B	0.33568	0.166;0.127	D	0.93516	0.6857	10	0.33940	T	0.23	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	522;359	P85037;P85037-2	FOXK1_HUMAN;.	I	359;278;522;405	ENSP00000394442:V359I;ENSP00000328720:V522I	ENSP00000328720:V522I	V	+	1	0	FOXK1	4765620	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	6.257000	0.72480	2.824000	0.97209	0.655000	0.94253	GTC	.		0.697	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
TNRC18	84629	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	5352513	5352515	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAA	GAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:5352513_5352515delGAA	ENST00000430969.1	-	27	8355_8357	c.8007_8009delTTC	c.(8005-8010)tcttcc>tcc	p.2669_2670SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2669_2670SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2669	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTGGTggaggaagaagaggagg	0.65																																					p.2669_2670del		.											.	TNRC18-46	0			c.8007_8009del						.																																			SO:0001651	inframe_deletion	84629	exon27			GTGGAGGAAGAAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8007_8009delTTC	7.37:g.5352516_5352518delGAA	ENSP00000395538:p.Ser2671del	51	0		55	13	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																			.		0.650	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
GRID2IP	392862	ucsc.edu;bcgsc.ca	37	7	6561142	6561142	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:6561142G>A	ENST00000457091.2	-	6	1001	c.1002C>T	c.(1000-1002)caC>caT	p.H334H	GRID2IP_ENST00000452113.1_Silent_p.H144H|GRID2IP_ENST00000435185.1_Silent_p.H151H	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	334	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						CCACCTTGTCGTGGGAGCAGT	0.652																																					p.H334H		.											.	.	0			c.C1002T						.						49.0	52.0	51.0					7																	6561142		692	1591	2283	SO:0001819	synonymous_variant	392862	exon6			CTTGTCGTGGGAG		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1002C>T	7.37:g.6561142G>A		167	2		281	91	NM_001145118	0	0	0	0	0		Silent	SNP	ENST00000457091.2	37	CCDS47537.1																																																																																			.		0.652	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
DNAH11	8701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	21646323	21646323	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:21646323C>T	ENST00000409508.3	+	20	3855	c.3824C>T	c.(3823-3825)gCa>gTa	p.A1275V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1275V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1275	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGATTTAATGCAGAAAATCCA	0.328									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						68.0	67.0	67.0					7																	21646323		1843	4108	5951	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTAATGCAGAAAA	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3824C>T	7.37:g.21646323C>T	ENSP00000475939:p.Ala1275Val	38	0		49	10	.	0	0	2	2	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	12.07	1.826154	0.32237	.	.	ENSG00000105877	ENST00000328843	T	0.20069	2.1	5.46	3.64	0.41730	.	0.424391	0.24386	N	0.038962	T	0.11281	0.0275	.	.	.	0.24544	N	0.994052	B	0.25719	0.132	B	0.21546	0.035	T	0.27434	-1.0074	9	0.15066	T	0.55	.	9.9116	0.41408	0.0:0.7796:0.0:0.2204	.	1275	Q96DT5	DYH11_HUMAN	V	1275	ENSP00000330671:A1275V	ENSP00000330671:A1275V	A	+	2	0	DNAH11	21612848	0.990000	0.36364	0.888000	0.34837	0.963000	0.63663	1.083000	0.30815	1.293000	0.44690	0.655000	0.94253	GCA	.		0.328	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
BLVRA	644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	43827548	43827548	+	Missense_Mutation	SNP	G	G	A	rs138715080		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:43827548G>A	ENST00000402924.1	+	4	221	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	BLVRA_ENST00000265523.4_Missense_Mutation_p.G20S	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	20					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGGCCGAGCCGGCTCCGTGCG	0.562													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.0				p.G20S		.											.	BLVRA-91	0			c.G58A						.	G	SER/GLY	6,4400	11.4+/-27.6	0,6,2197	245.0	188.0	207.0		58	5.1	0.9	7	dbSNP_134	207	0,8600		0,0,4300	yes	missense	BLVRA	NM_000712.3	56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	20/297	43827548	6,13000	2203	4300	6503	SO:0001583	missense	644	exon4			CGAGCCGGCTCCG	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.58G>A	7.37:g.43827548G>A	ENSP00000385757:p.Gly20Ser	221	0		264	76	NM_001253823	0	0	18	26	8	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738284	0.89573	0.001362	0.0	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.33216	1.42;1.42;1.42	5.06	5.06	0.68205	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.52793	-0.8528	10	0.17369	T	0.5	.	16.3034	0.82836	0.0:0.0:1.0:0.0	.	20	P53004	BIEA_HUMAN	S	20	ENSP00000265523:G20S;ENSP00000385757:G20S;ENSP00000412005:G20S	ENSP00000265523:G20S	G	+	1	0	BLVRA	43794073	1.000000	0.71417	0.924000	0.36721	0.736000	0.42039	4.853000	0.62911	2.527000	0.85204	0.561000	0.74099	GGC	G|1.000;A|0.000		0.562	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712	
POLM	27434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	44114081	44114081	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:44114081A>G	ENST00000242248.5	-	7	985	c.884T>C	c.(883-885)gTa>gCa	p.V295A	POLM_ENST00000335195.6_Silent_p.C292C|POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Silent_p.C249C	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	295					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGGCATCTACATCGGACCG	0.697								DNA polymerases (catalytic subunits)																													p.V295A		.											.	POLM-229	0			c.T884C						.						22.0	20.0	21.0					7																	44114081		2198	4299	6497	SO:0001583	missense	27434	exon7			GCATCTACATCGG	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.884T>C	7.37:g.44114081A>G	ENSP00000242248:p.Val295Ala	21	0		241	142	NM_013284	0	0	0	0	0	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	A	1.445	-0.566477	0.03910	.	.	ENSG00000122678	ENST00000242248	T	0.35236	1.32	5.38	-1.53	0.08611	DNA-directed DNA polymerase X (1);	.	.	.	.	T	0.12050	0.0293	N	0.02876	-0.465	0.23459	N	0.997631	B	0.02656	0.0	B	0.01281	0.0	T	0.34153	-0.9840	9	0.02654	T	1	-0.853	9.3801	0.38309	0.6183:0.0:0.3817:0.0	.	295	Q9NP87	DPOLM_HUMAN	A	295	ENSP00000242248:V295A	ENSP00000242248:V295A	V	-	2	0	POLM	44080606	0.423000	0.25482	0.000000	0.03702	0.652000	0.38707	1.368000	0.34216	-0.363000	0.08101	-0.388000	0.06559	GTA	.		0.697	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284	
OGDH	4967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	44747186	44747186	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000543843.1_Silent_p.S885S|OGDH_ENST00000447398.1_Silent_p.S945S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000449767.1_Silent_p.S930S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTAGCTGTCGCCATTCCCCT	0.552																																					p.S934S		.											.	OGDH-228	0			c.G2802A						.						125.0	114.0	117.0					7																	44747186		2203	4300	6503	SO:0001819	synonymous_variant	4967	exon22			GCTGTCGCCATTC	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2802G>A	7.37:g.44747186G>A		99	0		108	66	NM_002541	0	0	0	0	0	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			.		0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
H2AFV	94239	ucsc.edu	37	7	44874113	44874113	+	Missense_Mutation	SNP	T	T	C	rs1802437		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:44874113T>C	ENST00000308153.4	-	5	465	c.374A>G	c.(373-375)cAg>cGg	p.Q125R	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.Q99R|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000349299.3_Missense_Mutation_p.Q87R	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	125			Q -> R (in dbSNP:rs1802437).			extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						AGCAGTTTTCTGCTGTCCCTT	0.373																																					p.Q125R		.											.	H2AFV-90	0			c.A374G						.						90.0	79.0	83.0					7																	44874113		2203	4300	6503	SO:0001583	missense	94239	exon5			GTTTTCTGCTGTC	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.374A>G	7.37:g.44874113T>C	ENSP00000308405:p.Gln125Arg	61	1		62	11	NM_012412	0	0	159	160	1	A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.461982	0.63513	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.82619	0.93;-1.63;0.94	5.91	5.91	0.95273	Histone-fold (1);Histone H2A (1);	.	.	.	.	T	0.71600	0.3359	N	0.17474	0.49	0.80722	D	1	B;B;P	0.41673	0.0;0.029;0.759	B;B;B	0.37267	0.001;0.009;0.245	T	0.76405	-0.2971	9	0.59425	D	0.04	-19.8855	14.2973	0.66321	0.0:0.0:0.0:1.0	rs1802437	99;87;125	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	R	87;125;99	ENSP00000342714:Q87R;ENSP00000308405:Q125R;ENSP00000340708:Q99R	ENSP00000308405:Q125R	Q	-	2	0	H2AFV	44840638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.465000	0.80898	2.261000	0.74972	0.533000	0.62120	CAG	T|0.997;C|0.003		0.373	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412	
PKD1L1	168507	bcgsc.ca	37	7	47840387	47840387	+	Missense_Mutation	SNP	C	C	T	rs13231277	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:47840387C>T	ENST00000289672.2	-	54	8103	c.8053G>A	c.(8053-8055)Gcc>Acc	p.A2685T	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2685			A -> T (in dbSNP:rs13231277).		detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCGGGGAAGGCGTCTGTGAAG	0.572													C|||	583	0.116414	0.2239	0.0922	5008	,	,		16675	0.0357		0.1153	False		,,,				2504	0.0726				p.A2685T		.											.	PKD1L1-145	0			c.G8053A						.	C	,THR/ALA	1025,3381	379.7+/-323.4	116,793,1294	85.0	87.0	86.0		,8053	-9.6	0.0	7	dbSNP_121	86	977,7623	212.1+/-252.5	54,869,3377	yes	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,58	170,1662,4671	TT,TC,CC		11.3605,23.2637,15.3929	,possibly-damaging	,2685/2850	47840387	2002,11004	2203	4300	6503	SO:0001583	missense	168507	exon54			GGAAGGCGTCTGT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8053G>A	7.37:g.47840387C>T	ENSP00000289672:p.Ala2685Thr	154	0		180	8	NM_138295	0	0	0	0	0	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	249	0.11401098901098901	107	0.21747967479674796	39	0.10773480662983426	16	0.027972027972027972	87	0.11477572559366754	C	5.355	0.250713	0.10130	0.232637	0.113605	ENSG00000158683	ENST00000289672	T	0.19669	2.13	4.79	-9.59	0.00556	.	0.913079	0.08831	N	0.887252	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.25955	0.138	B	0.14023	0.01	T	0.34104	-0.9842	9	0.27785	T	0.31	-1.5221	8.4698	0.32977	0.1741:0.6512:0.0759:0.0988	rs13231277;rs17131818;rs52838274;rs60072826;rs13231277	2685	Q8TDX9	PK1L1_HUMAN	T	2685	ENSP00000289672:A2685T	ENSP00000289672:A2685T	A	-	1	0	PKD1L1	47806912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.536000	0.02208	-2.079000	0.00871	-0.311000	0.09066	GCC	C|0.858;T|0.142		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
GSAP	54103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	76942815	76942815	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:76942815C>T	ENST00000257626.7	-	28	2339	c.2261G>A	c.(2260-2262)cGg>cAg	p.R754Q	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.R75Q	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	754					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CGGAGGAAGCCGCACAATGAT	0.338																																					p.R754Q		.											.	PION-514	0			c.G2261A						.						106.0	103.0	104.0					7																	76942815		1848	4105	5953	SO:0001583	missense	54103	exon28			GGAAGCCGCACAA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2261G>A	7.37:g.76942815C>T	ENSP00000257626:p.Arg754Gln	51	0		50	21	NM_017439	0	0	0	0	0	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679249	0.88542	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.20463	2.07	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.69823	2.125	0.49299	D	0.999779	D	0.89917	1.0	D	0.85130	0.997	T	0.39781	-0.9597	10	0.87932	D	0	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	754	A4D1B5	GSAP_HUMAN	Q	754;75	ENSP00000257626:R754Q	ENSP00000257626:R754Q	R	-	2	0	PION	76780751	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.349000	0.66010	2.861000	0.98227	0.655000	0.94253	CGG	.		0.338	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	
CACNA2D1	781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	81637024	81637024	+	Missense_Mutation	SNP	C	C	T	rs377337212		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:81637024C>T	ENST00000356253.5	-	16	1666	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G471S|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	471	Cache.				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.G471S(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)	TCAAATTGGCCGGTTATGTTG	0.308																																					p.G471S		.											.	CACNA2D1-96	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A						.	C	SER/GLY	0,4406		0,0,2203	46.0	45.0	45.0		1411	5.6	1.0	7		45	1,8597	1.2+/-3.3	0,1,4298	no	missense	CACNA2D1	NM_000722.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	471/1092	81637024	1,13003	2203	4299	6502	SO:0001583	missense	781	exon16			ATTGGCCGGTTAT	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.1411G>A	7.37:g.81637024C>T	ENSP00000348589:p.Gly471Ser	121	0		95	34	NM_000722	0	0	0	0	0	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	13.45	2.241467	0.39598	0.0	1.16E-4	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.06528	3.3;3.29	5.59	5.59	0.84812	.	0.137705	0.52532	D	0.000061	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B	0.33748	0.423	B	0.26094	0.066	T	0.56159	-0.8025	10	0.15066	T	0.55	-14.6817	19.2053	0.93728	0.0:1.0:0.0:0.0	.	471	P54289-2	.	S	471	ENSP00000349320:G471S;ENSP00000348589:G471S	ENSP00000284088:G471S	G	-	1	0	CACNA2D1	81474960	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.038000	0.57318	2.626000	0.88956	0.585000	0.79938	GGC	.		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	86415919	86415919	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:86415919G>A	ENST00000361669.2	+	3	1910	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	GRM3_ENST00000536043.1_Missense_Mutation_p.V143I|GRM3_ENST00000394720.2_Missense_Mutation_p.V269I|GRM3_ENST00000439827.1_Missense_Mutation_p.V271I|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	271					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.V271I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAACGCGCGCGTCGTGGTCCT	0.652																																					p.V271I	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	1	Substitution - Missense(1)	central_nervous_system(1)	c.G811A						.						44.0	50.0	48.0					7																	86415919		2203	4300	6503	SO:0001583	missense	2913	exon3			GCGCGCGTCGTGG		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.811G>A	7.37:g.86415919G>A	ENSP00000355316:p.Val271Ile	16	0		94	35	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226162	0.79576	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.82056	2.57	0.80722	D	1	B;B;B	0.23891	0.043;0.093;0.053	B;B;B	0.25140	0.034;0.058;0.036	D	0.83825	0.0249	10	0.54805	T	0.06	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	143;271;271	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	I	271;143;143;271;269	ENSP00000355316:V271I;ENSP00000405427:V143I;ENSP00000441407:V143I;ENSP00000398767:V271I;ENSP00000378209:V269I	ENSP00000355316:V271I	V	+	1	0	GRM3	86253855	1.000000	0.71417	0.919000	0.36401	0.998000	0.95712	7.921000	0.87530	2.885000	0.99019	0.655000	0.94253	GTC	.		0.652	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
TECPR1	25851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	97854151	97854151	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:97854151C>T	ENST00000447648.2	-	19	2951	c.2652G>A	c.(2650-2652)acG>acA	p.T884T	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.T886T			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	884					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCCTGGTCCGTGCCCCCCG	0.632																																					p.T884T		.											.	TECPR1-91	0			c.G2652A						.						21.0	25.0	24.0					7																	97854151		1987	4141	6128	SO:0001819	synonymous_variant	25851	exon19			CTGGTCCGTGCCC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2652G>A	7.37:g.97854151C>T		99	0		150	47	NM_015395	0	0	5	5	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			.		0.632	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395	
TRRAP	8295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	98609726	98609726	+	Silent	SNP	C	C	T	rs548877968		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:98609726C>T	ENST00000359863.4	+	72	11537	c.11328C>T	c.(11326-11328)gaC>gaT	p.D3776D	TRRAP_ENST00000446306.3_Silent_p.D3765D|TRRAP_ENST00000355540.3_Silent_p.D3747D|AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3776	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTCCGGGACGAGATCATTG	0.557													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20242	0.0		0.0	False		,,,				2504	0.0				p.D3776D		.											.	TRRAP-923	0			c.C11328T						.						87.0	79.0	82.0					7																	98609726		2203	4300	6503	SO:0001819	synonymous_variant	8295	exon72			CCGGGACGAGATC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11328C>T	7.37:g.98609726C>T		183	0		232	79	NM_001244580	0	0	22	29	7	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	c	5.569	0.289910	0.10567	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.3	-6.71	0.01760	.	.	.	.	.	T	0.63570	0.2522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66952	-0.5793	4	.	.	.	.	16.4313	0.83844	0.0:0.3411:0.0:0.6589	.	.	.	.	M	3505	.	.	T	+	2	0	TRRAP	98447662	0.151000	0.22747	0.860000	0.33809	0.690000	0.40134	-0.496000	0.06436	-1.298000	0.02348	-1.349000	0.01238	ACG	.		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:100479332delG	ENST00000347433.4	+	4	462	c.304delG	c.(304-306)gggfs	p.G106fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	106				G -> GG (in Ref. 3; CAB46374). {ECO:0000305}.	cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607																																					p.G102fs		.											.	SRRT-92	1	Deletion - Frameshift(1)	ovary(1)	c.304delG						.		,,,	57,63,4112		1,0,55,5,53,2002	29.0	30.0	30.0		,,,	4.3	1.0	7		30	49,115,8030		0,0,49,12,91,3945	no	codingComplex,codingComplex,codingComplex,codingComplex	SRRT	NM_015908.5,NM_001128854.1,NM_001128853.1,NM_001128852.1	,,,	1,0,104,17,144,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0015,2.8355,2.2855	,,,	,,,	100479332	106,178,12142	2197	4287	6484	SO:0001589	frameshift_variant	51593	exon4			TATGCTGGGGGGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.304delG	7.37:g.100479332delG	ENSP00000314491:p.Gly106fs	51	0		79	7	NM_001128853	0	0	0	0	0	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	ENST00000347433.4	37	CCDS34709.1																																																																																			.		0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
SERPINE1	5054	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	100778833	100778833	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:100778833G>A	ENST00000223095.4	+	6	1115	c.958G>A	c.(958-960)Gac>Aac	p.D320N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.D305N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	320					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGGAATGACCGACATGTTCAG	0.552																																					p.D320N		.											.	SERPINE1-652	0			c.G958A						.						97.0	95.0	95.0					7																	100778833		2203	4300	6503	SO:0001583	missense	5054	exon6			ATGACCGACATGT	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.958G>A	7.37:g.100778833G>A	ENSP00000223095:p.Asp320Asn	104	0		88	5	NM_000602	0	0	0	0	0	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871367	0.33069	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.25579	1.79;1.79	5.67	2.93	0.34026	Serpin domain (3);	0.176250	0.48767	N	0.000171	T	0.29652	0.0740	M	0.76938	2.355	0.47862	D	0.99953	P;P	0.39717	0.684;0.515	B;B	0.38194	0.24;0.267	T	0.05582	-1.0876	10	0.56958	D	0.05	.	9.5972	0.39580	0.2286:0.0:0.7714:0.0	.	305;320	F8WD53;P05121	.;PAI1_HUMAN	N	320;305;97	ENSP00000223095:D320N;ENSP00000396766:D305N	ENSP00000223095:D320N	D	+	1	0	SERPINE1	100565553	1.000000	0.71417	0.829000	0.32907	0.042000	0.13812	2.965000	0.49200	0.349000	0.23975	-1.036000	0.02392	GAC	.		0.552	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
Unknown	0	bcgsc.ca	37	7	101989090	101989090	+	IGR	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:101989090G>A								Y_RNA (11708 upstream) : PRKRIP1 (15253 downstream)																							AGTCCTCGTCGTCCTCCTCCA	0.552																																					p.D261D		.											.	SPDYE6-1	0			c.C783T						.						1.0	1.0	1.0					7																	101989090		80	281	361	SO:0001628	intergenic_variant	729597	exon6			CTCGTCGTCCTCC																													7.37:g.101989090G>A		1447	4		1622	118	NM_001146210	0	0	2	2	0		Silent	SNP		37																																																																																				.	0	0.552								
DNAJB9	4189	broad.mit.edu	37	7	108212318	108212318	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:108212318G>T	ENST00000249356.3	+	2	694	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000493722.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	50	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCACAAGTTGGCCATGAAGTA	0.413																																					p.A50S		.											.	DNAJB9-226	0			c.G148T						.						99.0	107.0	105.0					7																	108212318		2203	4300	6503	SO:0001583	missense	4189	exon2			AAGTTGGCCATGA	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.148G>T	7.37:g.108212318G>T	ENSP00000249356:p.Ala50Ser	103	0		124	5	NM_012328	0	0	1	1	0		Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477236	0.96291	.	.	ENSG00000128590	ENST00000249356	T	0.36878	1.23	5.34	5.34	0.76211	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37686	-0.9695	9	.	.	.	.	18.035	0.89298	0.0:0.0:1.0:0.0	.	50	Q9UBS3	DNJB9_HUMAN	S	50	ENSP00000249356:A50S	.	A	+	1	0	DNAJB9	107999554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.483000	0.83821	0.563000	0.77884	GCC	.		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1		
LMOD2	442721	ucsc.edu;bcgsc.ca	37	7	123302045	123302045	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:123302045C>T	ENST00000458573.2	+	2	562	c.405C>T	c.(403-405)gaC>gaT	p.D135D	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	135	Glu-rich.					cytoskeleton (GO:0005856)											aagaCAGTGACGAAGAGGAAA	0.398																																					p.D135D		.											.	LMOD2-68	0			c.C405T						.						50.0	50.0	50.0					7																	123302045		1926	4136	6062	SO:0001819	synonymous_variant	442721	exon2			CAGTGACGAAGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.405C>T	7.37:g.123302045C>T		129	2		160	107	NM_207163	0	0	0	0	0	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	CCDS47693.1																																																																																			.		0.398	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	133932369	133932369	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:133932369G>A	ENST00000285928.2	+	17	2114	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	682						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGAAGGATACGCCCTGATCAC	0.388																																					p.R682H		.											.	LRGUK-227	0			c.G2045A						.						93.0	90.0	91.0					7																	133932369		2203	4300	6503	SO:0001583	missense	136332	exon17			GGATACGCCCTGA	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2045G>A	7.37:g.133932369G>A	ENSP00000285928:p.Arg682His	126	0		140	80	NM_144648	0	0	1	1	0	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638279	0.47153	.	.	ENSG00000155530	ENST00000285928	T	0.35789	1.29	5.83	4.95	0.65309	.	0.135865	0.49305	D	0.000142	T	0.22859	0.0552	N	0.22421	0.69	0.09310	N	1	D	0.54207	0.965	B	0.35182	0.197	T	0.13255	-1.0516	10	0.87932	D	0	-12.2739	13.8794	0.63674	0.0:0.8397:0.1603:0.0	.	682	Q96M69	LRGUK_HUMAN	H	682	ENSP00000285928:R682H	ENSP00000285928:R682H	R	+	2	0	LRGUK	133582909	0.090000	0.21635	0.085000	0.20634	0.803000	0.45373	2.473000	0.45145	1.466000	0.48025	-0.165000	0.13383	CGC	.		0.388	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
NUP205	23165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	135323345	135323345	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:135323345T>C	ENST00000285968.6	+	38	5332	c.5306T>C	c.(5305-5307)tTa>tCa	p.L1769S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1769					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCACTCATGTTACAGAGTTCC	0.398																																					p.L1769S		.											.	NUP205-207	0			c.T5306C						.						218.0	201.0	207.0					7																	135323345		2203	4300	6503	SO:0001583	missense	23165	exon38			TCATGTTACAGAG	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5306T>C	7.37:g.135323345T>C	ENSP00000285968:p.Leu1769Ser	158	0		185	36	NM_015135	0	0	12	18	6	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	t	10.99	1.508423	0.27036	.	.	ENSG00000155561	ENST00000285968	T	0.30182	1.54	5.26	4.07	0.47477	.	0.320366	0.29722	N	0.011368	T	0.13798	0.0334	N	0.11560	0.145	0.53688	D	0.999971	B	0.02656	0.0	B	0.06405	0.002	T	0.11131	-1.0600	10	0.02654	T	1	-16.3696	11.1089	0.48221	0.1428:0.0:0.0:0.8572	.	1769	Q92621	NU205_HUMAN	S	1769	ENSP00000285968:L1769S	ENSP00000285968:L1769S	L	+	2	0	NUP205	134973885	0.998000	0.40836	0.132000	0.22025	0.925000	0.55904	5.260000	0.65490	0.797000	0.33971	0.377000	0.23210	TTA	.		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
ATP6V0A4	50617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	138417706	138417706	+	Silent	SNP	G	G	A	rs549185406		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:138417706G>A	ENST00000310018.2	-	17	2106	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	ATP6V0A4_ENST00000393054.1_Silent_p.H608H|ATP6V0A4_ENST00000353492.4_Silent_p.H608H	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	608					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCTGGGGGCGTGCTGAGATA	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.0				p.H608H		.											.	ATP6V0A4-91	0			c.C1824T						.						126.0	117.0	120.0					7																	138417706		2203	4300	6503	SO:0001819	synonymous_variant	50617	exon16			GGGGGCGTGCTGA	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1824C>T	7.37:g.138417706G>A		107	0		183	65	NM_130841	0	0	0	0	0	A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																			.		0.413	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
KDM7A	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	139818942	139818942	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:139818942A>G	ENST00000397560.2	-	9	1314	c.1217T>C	c.(1216-1218)gTa>gCa	p.V406A	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V406A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		406					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTTTTGGCTACAAACCAACA	0.328																																					p.V406A		.											.	JHDM1D-91	0			c.T1217C						.						138.0	139.0	139.0					7																	139818942		1804	4072	5876	SO:0001583	missense	80853	exon9			TTGGCTACAAACC																												ENST00000397560.2:c.1217T>C	7.37:g.139818942A>G	ENSP00000380692:p.Val406Ala	61	0		69	25	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677420	0.68042	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.57436	0.4;0.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	L	0.33339	1.005	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60692	-0.7213	10	0.36615	T	0.2	-17.4038	16.277	0.82647	1.0:0.0:0.0:0.0	.	406	Q6ZMT4	KDM7_HUMAN	A	406	ENSP00000380692:V406A;ENSP00000006967:V406A	ENSP00000006967:V406A	V	-	2	0	JHDM1D	139465411	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.526000	0.81920	2.302000	0.77476	0.533000	0.62120	GTA	.		0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
GSTK1	373156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142965205	142965205	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:142965205G>A	ENST00000358406.5	+	7	630	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	GSTK1_ENST00000409500.3_Missense_Mutation_p.V175M|GSTK1_ENST00000479303.1_Missense_Mutation_p.V243M|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.V144M	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	187					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GCCCATCACCGTGGCCCATGT	0.527																																					p.V243M		.											.	GSTK1-90	0			c.G727A						.						327.0	329.0	329.0					7																	142965205		2203	4300	6503	SO:0001583	missense	373156	exon6			ATCACCGTGGCCC		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.559G>A	7.37:g.142965205G>A	ENSP00000351181:p.Val187Met	119	0		108	74	NM_001143679	0	0	79	199	120	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663455	0.88251	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	5.78	0.91487	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.91612	3.225	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;0.978;1.0	P;P;P;D	0.74023	0.905;0.74;0.759;0.982	D	0.87784	0.2614	9	0.62326	D	0.03	-45.8625	17.573	0.87940	0.0:0.0:1.0:0.0	.	175;144;243;187	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	M	175;144;187;243	.	ENSP00000351181:V187M	V	+	1	0	GSTK1	142675327	1.000000	0.71417	0.963000	0.40424	0.907000	0.53573	6.350000	0.73017	2.760000	0.94817	0.644000	0.83932	GTG	.		0.527	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917	
ZNF425	155054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	148801944	148801944	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:148801944C>T	ENST00000378061.2	-	4	1151	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R340L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTCTTCAGGCGGAAGCACCG	0.662																																					p.R340H		.											.	ZNF425-136	1	Substitution - Missense(1)	lung(1)	c.G1019A						.						45.0	43.0	44.0					7																	148801944		2203	4300	6503	SO:0001583	missense	155054	exon4			TTCAGGCGGAAGC	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1019G>A	7.37:g.148801944C>T	ENSP00000367300:p.Arg340His	31	0		48	14	NM_001001661	0	0	0	0	0	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483390	0.84854	.	.	ENSG00000204947	ENST00000378061	T	0.15834	2.39	3.42	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.48877	1.53	0.09310	N	1	D	0.71674	0.998	D	0.65987	0.94	T	0.04767	-1.0928	9	0.56958	D	0.05	.	8.325	0.32151	0.0:0.8781:0.0:0.1219	.	340	Q6IV72	ZN425_HUMAN	H	340	ENSP00000367300:R340H	ENSP00000367300:R340H	R	-	2	0	ZNF425	148432877	0.000000	0.05858	0.823000	0.32752	0.991000	0.79684	-0.291000	0.08343	0.775000	0.33450	0.655000	0.94253	CGC	.		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
SMARCD3	6604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150938652	150938652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:150938652G>A	ENST00000262188.8	-	8	1275	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMARCD3_ENST00000356800.2_Nonsense_Mutation_p.Q276*|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000392811.2_Nonsense_Mutation_p.Q276*|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	289	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCACATACTGCCACAGGGCC	0.577																																					p.Q289X		.											.	SMARCD3-228	0			c.C865T						.						45.0	39.0	41.0					7																	150938652		2203	4300	6503	SO:0001587	stop_gained	6604	exon8			CATACTGCCACAG	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.865C>T	7.37:g.150938652G>A	ENSP00000262188:p.Gln289*	114	0		202	47	NM_001003801	0	0	109	124	15	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Nonsense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	41	8.848613	0.98976	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.9824	16.8808	0.86062	0.0:0.0:1.0:0.0	.	.	.	.	X	289;276;276;241	.	ENSP00000262188:Q289X	Q	-	1	0	SMARCD3	150569585	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	CAG	.		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	154863297	154863297	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:154863297C>T	ENST00000287907.2	+	1	1264	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	230					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)			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)	TGCCAAGTTCCGCGTGGGCTC	0.542																																					p.R230C		.											.	HTR5A-155	0			c.C688T						.						81.0	77.0	78.0					7																	154863297		2203	4300	6503	SO:0001583	missense	3361	exon1			AAGTTCCGCGTGG		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.688C>T	7.37:g.154863297C>T	ENSP00000287907:p.Arg230Cys	110	0		261	64	NM_024012	0	0	0	0	0	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336549	0.81801	.	.	ENSG00000157219	ENST00000287907	T	0.38887	1.11	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.84811	0.0790	10	0.87932	D	0	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	230	P47898	5HT5A_HUMAN	C	230	ENSP00000287907:R230C	ENSP00000287907:R230C	R	+	1	0	HTR5A	154494230	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.580000	0.67464	2.485000	0.83878	0.650000	0.86243	CGC	.		0.542	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
RBM33	155435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	155534695	155534695	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:155534695G>A	ENST00000401878.3	+	13	2430	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	744							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CACCACCCTCGCGGGCCGTGG	0.567																																					p.S744S		.											.	RBM33-23	0			c.G2232A						.						63.0	65.0	64.0					7																	155534695		2203	4300	6503	SO:0001819	synonymous_variant	155435	exon13			ACCCTCGCGGGCC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2232G>A	7.37:g.155534695G>A		139	0		336	81	NM_053043	0	0	1	1	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.786075	0.02907	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.09185	-1.0686	4	.	.	.	.	4.7985	0.13284	0.355:0.4125:0.0938:0.1388	.	.	.	.	H	516	.	.	R	+	2	0	RBM33	155227456	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.056000	0.03489	-2.263000	0.00689	-0.226000	0.12346	CGC	.		0.567	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	
SHH	6469	hgsc.bcm.edu	37	7	155596413	155596413	+	Silent	SNP	C	C	T	rs9333633	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:155596413C>T	ENST00000297261.2	-	3	720	c.570G>A	c.(568-570)tcG>tcA	p.S190S	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	190					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCGCCACCGAGTTCTCTG	0.687													C|||	24	0.00479233	0.0	0.0014	5008	,	,		10722	0.0		0.003	False		,,,				2504	0.0204				p.S190S		.											.	SHH-1134	0			c.G570A						.	C		1,4275		0,1,2137	12.0	14.0	14.0		570	-1.5	1.0	7	dbSNP_119	14	26,8494		0,26,4234	no	coding-synonymous	SHH	NM_000193.2		0,27,6371	TT,TC,CC		0.3052,0.0234,0.211		190/463	155596413	27,12769	2138	4260	6398	SO:0001819	synonymous_variant	6469	exon3			CGCCACCGAGTTC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.570G>A	7.37:g.155596413C>T		0	0		29	5	NM_000193	0	0	5	6	1	A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	CCDS5942.1																																																																																			C|0.996;T|0.004		0.687	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
NOM1	64434	hgsc.bcm.edu	37	7	156742868	156742868	+	Missense_Mutation	SNP	C	C	A	rs199647631		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:156742868C>A	ENST00000275820.3	+	1	452	c.437C>A	c.(436-438)cCg>cAg	p.P146Q		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	146	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGCCGCGGCCGTCCCGGGTC	0.736													.|||	1	0.000199681	0.0	0.0014	5008	,	,		11083	0.0		0.0	False		,,,				2504	0.0				p.P146Q		.											.	NOM1-90	0			c.C437A						.	C	GLN/PRO	0,4074		0,0,2037	6.0	8.0	8.0		437	3.0	0.0	7		8	4,8140		0,4,4068	yes	missense	NOM1	NM_138400.1	76	0,4,6105	AA,AC,CC		0.0491,0.0,0.0327	benign	146/861	156742868	4,12214	2037	4072	6109	SO:0001583	missense	64434	exon1			CGCGGCCGTCCCG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.437C>A	7.37:g.156742868C>A	ENSP00000275820:p.Pro146Gln	0	0		15	10	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.91	1.781120	0.31502	0.0	4.91E-4	ENSG00000146909	ENST00000275820	T	0.11821	2.74	3.93	3.03	0.35002	.	2.317640	0.01636	N	0.023816	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	P	0.45768	0.866	B	0.41691	0.364	T	0.22243	-1.0222	10	0.15952	T	0.53	-2.2662	3.9911	0.09537	0.0:0.5886:0.214:0.1974	.	146	Q5C9Z4	NOM1_HUMAN	Q	146	ENSP00000275820:P146Q	ENSP00000275820:P146Q	P	+	2	0	NOM1	156435629	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.325000	0.07976	0.842000	0.35045	0.650000	0.86243	CCG	C|0.999;A|0.000		0.736	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
UBE3C	9690	broad.mit.edu;bcgsc.ca	37	7	157000478	157000478	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:157000478G>A	ENST00000348165.5	+	13	2018	c.1658G>A	c.(1657-1659)tGc>tAc	p.C553Y		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	553					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGATGCATGCCTGGGGATC	0.393																																					p.C553Y		.											.	UBE3C-704	0			c.G1658A						.						136.0	129.0	132.0					7																	157000478		2203	4300	6503	SO:0001583	missense	9690	exon13			ATGCATGCCTGGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1658G>A	7.37:g.157000478G>A	ENSP00000309198:p.Cys553Tyr	75	0		165	6	NM_014671	0	0	2	2	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067765	0.76301	.	.	ENSG00000009335	ENST00000348165	T	0.48522	0.81	5.46	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.74023	0.898;0.982	T	0.68221	-0.5466	10	0.54805	T	0.06	-24.8205	14.6094	0.68504	0.0717:0.0:0.9283:0.0	.	553;553	Q15386;Q15386-2	UBE3C_HUMAN;.	Y	553	ENSP00000309198:C553Y	ENSP00000309198:C553Y	C	+	2	0	UBE3C	156693239	1.000000	0.71417	0.827000	0.32855	0.805000	0.45488	7.029000	0.76477	2.556000	0.86216	0.655000	0.94253	TGC	.		0.393	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
UBE3C	9690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	157013470	157013470	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:157013470G>A	ENST00000348165.5	+	15	2362	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	668					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CACCCTGGACGGTGAGTTCTC	0.493																																					p.V668M		.											.	UBE3C-704	0			c.G2002A						.						80.0	68.0	72.0					7																	157013470		2203	4300	6503	SO:0001630	splice_region_variant	9690	exon15			CTGGACGGTGAGT	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2002+1G>A	7.37:g.157013470G>A		52	0		125	15	NM_014671	0	0	0	0	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129589	0.77549	.	.	ENSG00000009335	ENST00000348165	T	0.43688	0.94	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.36672	1.1	0.80722	D	1	P	0.42556	0.783	B	0.31812	0.136	T	0.22977	-1.0201	10	0.46703	T	0.11	.	19.1126	0.93323	0.0:0.0:1.0:0.0	.	668	Q15386	UBE3C_HUMAN	M	668	ENSP00000309198:V668M	ENSP00000309198:V668M	V	+	1	0	UBE3C	156706231	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.924000	0.92827	2.591000	0.87537	0.655000	0.94253	GTG	.		0.493	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	Missense_Mutation
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	3047597	3047597	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:3047597G>A	ENST00000520002.1	-	35	5793	c.5238C>T	c.(5236-5238)ccC>ccT	p.P1746P	CSMD1_ENST00000602723.1_Silent_p.P1746P|CSMD1_ENST00000400186.3_Silent_p.P1746P|CSMD1_ENST00000542608.1_Silent_p.P1745P|CSMD1_ENST00000602557.1_Silent_p.P1746P|CSMD1_ENST00000537824.1_Silent_p.P1745P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.P1745P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1746	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		ATCTGGGCTCGGGGACAGAGC	0.562																																					p.P1745P		.											.	CSMD1-86	0			c.C5235T						.						55.0	62.0	60.0					8																	3047597		2004	4170	6174	SO:0001819	synonymous_variant	64478	exon34			GGGCTCGGGGACA			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.5238C>T	8.37:g.3047597G>A		126	0		126	43	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	8.447	0.852099	0.17034	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2406	0.01962	0.3948:0.2595:0.1146:0.2311	.	.	.	.	X	1226	.	.	R	-	1	2	CSMD1	3035004	0.000000	0.05858	0.207000	0.23584	0.859000	0.49053	-3.108000	0.00601	-2.421000	0.00563	-0.385000	0.06624	CGA	.		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu;bcgsc.ca	37	8	3432588	3432588	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:3432588G>A	ENST00000520002.1	-	11	1781	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CSMD1_ENST00000602723.1_Splice_Site_p.A409V|CSMD1_ENST00000400186.3_Splice_Site_p.A409V|CSMD1_ENST00000542608.1_Splice_Site_p.A408V|CSMD1_ENST00000602557.1_Splice_Site_p.A409V|CSMD1_ENST00000537824.1_Splice_Site_p.A408V|CSMD1_ENST00000539096.1_Splice_Site_p.A408V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	409	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		ACATGTTCTCGCTGGAAACAC	0.413																																					p.A408V		.											.	CSMD1-86	0			c.C1223T						.						57.0	65.0	62.0					8																	3432588		2027	4176	6203	SO:0001630	splice_region_variant	64478	exon10			GTTCTCGCTGGAA			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.1226-1C>T	8.37:g.3432588G>A		107	1		90	28	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	9.373	1.070940	0.20147	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.06	5.06	0.68205	.	.	.	.	.	T	0.33177	0.0854	N	0.21617	0.685	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	T	0.04373	-1.0956	9	0.14656	T	0.56	.	17.2099	0.86928	0.0:0.0:1.0:0.0	.	409	E5RIG2	.	V	409;409;271;408;408;408	ENSP00000383047:A409V;ENSP00000430733:A409V;ENSP00000441462:A408V;ENSP00000446243:A408V;ENSP00000441675:A408V	ENSP00000320445:A271V	A	-	2	0	CSMD1	3419996	1.000000	0.71417	0.844000	0.33320	0.403000	0.30841	3.964000	0.56780	2.343000	0.79666	0.655000	0.94253	GCG	.		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	10466464	10466464	+	Missense_Mutation	SNP	G	G	A	rs370477638		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:10466464G>A	ENST00000382483.3	-	4	5367	c.5144C>T	c.(5143-5145)aCg>aTg	p.T1715M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1795					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)				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)		CGTGGGGTCCGTGTGGGTCTT	0.657																																					p.T1715M		.											.	RP1L1-139	0			c.C5144T						.	A	MET/THR	1,4011		0,1,2005	76.0	85.0	82.0		5144	-8.3	0.0	8		82	2,8342		0,2,4170	no	missense	RP1L1	NM_178857.5	81	0,3,6175	AA,AG,GG		0.024,0.0249,0.0243	benign	1715/2401	10466464	3,12353	2006	4172	6178	SO:0001583	missense	94137	exon4			GGGTCCGTGTGGG	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.5144C>T	8.37:g.10466464G>A	ENSP00000371923:p.Thr1715Met	44	0		76	23	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	g	9.121	1.009081	0.19199	2.49E-4	2.4E-4	ENSG00000183638	ENST00000382483	T	0.03663	3.85	4.17	-8.34	0.00988	.	1.393210	0.05272	N	0.517776	T	0.01592	0.0051	N	0.03608	-0.345	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.49123	-0.8972	10	0.39692	T	0.17	2.2517	7.9741	0.30145	0.5126:0.3017:0.1857:0.0	.	1715	A6NKC6	.	M	1715	ENSP00000371923:T1715M	ENSP00000371923:T1715M	T	-	2	0	RP1L1	10503874	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	0.292000	0.19011	-1.425000	0.01997	-1.402000	0.01139	ACG	.		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
NUDT18	79873	bcgsc.ca	37	8	21965113	21965113	+	Missense_Mutation	SNP	T	T	C	rs3739435	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:21965113T>C	ENST00000309188.6	-	5	788	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Missense_Mutation_p.M147V	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	224				M -> V (in Ref. 1; BAB15376/BAC85853). {ECO:0000305}.	dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CTCTGCTCCATAGGGTCGAGG	0.617													T|||	2775	0.554113	0.525	0.6614	5008	,	,		18738	0.619		0.4563	False		,,,				2504	0.5511				p.M224V		.											.	.	0			c.A670G						.	T	VAL/MET	2182,2088		560,1062,513	60.0	67.0	65.0		672	-2.2	0.0	8	dbSNP_107	65	3870,4608		898,2074,1267	no	missense	NUDT18	NM_024815.3	21	1458,3136,1780	CC,CT,TT		45.6476,48.8993,47.4741	benign	224/324	21965113	6052,6696	2135	4239	6374	SO:0001583	missense	79873	exon5			GCTCCATAGGGTC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.670A>G	8.37:g.21965113T>C	ENSP00000307852:p.Met224Val	64	0		131	5	NM_024815	0	0	5	5	0	Q8IZ75|Q9H687	Missense_Mutation	SNP	ENST00000309188.6	37		1179|1179	0.5398351648351648|0.5398351648351648	245|245	0.49796747967479676|0.49796747967479676	223|223	0.6160220994475138|0.6160220994475138	345|345	0.6031468531468531|0.6031468531468531	366|366	0.48284960422163586|0.48284960422163586	T|T	1.637|1.637	-0.517536|-0.517536	0.04171|0.04171	0.511007|0.511007	0.456476|0.456476	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|.	.|.	.|.	5.38|5.38	-2.23|-2.23	0.06930|0.06930	.|.	0.810801|.	0.11595|.	N|.	0.548297|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43540|0.43540	-0.9385|-0.9385	5|3	0.24483|.	T|.	0.36|.	-5.4957|-5.4957	4.9963|4.9963	0.14242|0.14242	0.2473:0.2275:0.0:0.5252|0.2473:0.2275:0.0:0.5252	rs3739435;rs52804017;rs60999375;rs3739435|rs3739435;rs52804017;rs60999375;rs3739435	.|.	.|.	.|.	V|C	147;224|259	.|.	ENSP00000307852:M224V|.	M|Y	-|-	1|2	0|0	NUDT18|NUDT18	22021058|22021058	0.000000|0.000000	0.05858|0.05858	0.033000|0.033000	0.17914|0.17914	0.244000|0.244000	0.25665|0.25665	-0.416000|-0.416000	0.07097|0.07097	-0.488000|-0.488000	0.06726|0.06726	-2.215000|-2.215000	0.00298|0.00298	ATG|TAT	T|0.476;C|0.524		0.617	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815	
SORBS3	10174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	22421834	22421834	+	Silent	SNP	G	G	A	rs201952170		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:22421834G>A	ENST00000240123.7	+	9	1097	c.714G>A	c.(712-714)acG>acA	p.T238T	SORBS3_ENST00000428103.1_5'Flank|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	238					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.T238T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ATGTCTGGACGGAAGAGTCCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20757	0.001		0.0	False		,,,				2504	0.0				p.T238T		.											.	SORBS3-90	1	Substitution - coding silent(1)	lung(1)	c.G714A						.						61.0	59.0	60.0					8																	22421834		2203	4300	6503	SO:0001819	synonymous_variant	10174	exon9			CTGGACGGAAGAG		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.714G>A	8.37:g.22421834G>A		128	0		162	104	NM_005775	0	0	0	0	0	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	CCDS6031.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.212	-1.035852	0.02029	.	.	ENSG00000120896	ENST00000524057	.	.	.	4.43	-8.85	0.00799	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.42527	D	0.993025	.	.	.	.	.	.	T	0.46789	-0.9166	4	.	.	.	-0.1669	4.5833	0.12269	0.1813:0.1195:0.5815:0.1177	.	.	.	.	R	175	.	.	G	+	1	0	SORBS3	22477779	0.004000	0.15560	0.506000	0.27664	0.020000	0.10135	-2.560000	0.00921	-1.065000	0.03168	-1.264000	0.01445	GGA	G|0.999;A|0.000		0.582	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775	
LOXL2	4017	broad.mit.edu;bcgsc.ca	37	8	23174525	23174525	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:23174525C>T	ENST00000389131.3	-	9	1942	c.1573G>A	c.(1573-1575)Ggg>Agg	p.G525R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	525	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACGTCCTCCCCGTCGTGGCGG	0.652																																					p.G525R		.											.	LOXL2-272	0			c.G1573A						.						65.0	58.0	60.0					8																	23174525		2203	4300	6503	SO:0001583	missense	4017	exon9			CCTCCCCGTCGTG	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1573G>A	8.37:g.23174525C>T	ENSP00000373783:p.Gly525Arg	43	0		221	11	NM_002318	0	0	0	0	0	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732431	0.89482	.	.	ENSG00000134013	ENST00000389131	T	0.35605	1.3	5.39	5.39	0.77823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.171118	0.51477	D	0.000092	T	0.64057	0.2564	M	0.79926	2.475	0.58432	D	0.999996	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.749	T	0.66424	-0.5927	10	0.56958	D	0.05	.	18.0971	0.89493	0.0:1.0:0.0:0.0	.	525;525	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	R	525	ENSP00000373783:G525R	ENSP00000373783:G525R	G	-	1	0	LOXL2	23230470	0.999000	0.42202	0.835000	0.33067	0.594000	0.36715	6.076000	0.71267	2.678000	0.91216	0.655000	0.94253	GGG	.		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	35579761	35579761	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:35579761C>T	ENST00000404895.2	+	9	1479	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	UNC5D_ENST00000420357.1_Missense_Mutation_p.S317L|UNC5D_ENST00000416672.1_Missense_Mutation_p.S389L|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.S379L|UNC5D_ENST00000287272.2_Missense_Mutation_p.S328L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	384					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCTTTGTACTCGGGCTTGGGT	0.517																																					p.S384L		.											.	UNC5D-96	0			c.C1151T						.						244.0	217.0	226.0					8																	35579761		2203	4300	6503	SO:0001583	missense	137970	exon9			TGTACTCGGGCTT	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.1151C>T	8.37:g.35579761C>T	ENSP00000385143:p.Ser384Leu	167	0		222	148	NM_080872	0	0	0	0	0	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125908	0.77436	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.53640	0.64;1.08;1.11;0.69;0.61	5.71	5.71	0.89125	.	0.053632	0.85682	D	0.000000	T	0.65780	0.2724	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.992	T	0.64529	-0.6386	10	0.54805	T	0.06	-9.7215	19.4428	0.94827	0.0:1.0:0.0:0.0	.	389;379;384	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	384;317;328;389;379	ENSP00000385143:S384L;ENSP00000392739:S317L;ENSP00000287272:S328L;ENSP00000412652:S389L;ENSP00000394303:S379L	ENSP00000287272:S328L	S	+	2	0	UNC5D	35699303	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.742000	0.68646	2.694000	0.91930	0.650000	0.86243	TCG	.		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
UNC5D	137970	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	35588557	35588557	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:35588557C>G	ENST00000404895.2	+	11	2037	c.1709C>G	c.(1708-1710)gCc>gGc	p.A570G	UNC5D_ENST00000420357.1_Missense_Mutation_p.A503G|UNC5D_ENST00000416672.1_Missense_Mutation_p.A575G|UNC5D_ENST00000449677.1_Missense_Mutation_p.A146G|UNC5D_ENST00000453357.2_Missense_Mutation_p.A565G|UNC5D_ENST00000287272.2_Missense_Mutation_p.A501G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	570	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)				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)		CCACACGGTGCCATCCCAGAG	0.428																																					p.A570G		.											.	UNC5D-96	0			c.C1709G						.						95.0	94.0	94.0					8																	35588557		2203	4300	6503	SO:0001583	missense	137970	exon11			ACGGTGCCATCCC	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.1709C>G	8.37:g.35588557C>G	ENSP00000385143:p.Ala570Gly	143	1		111	73	NM_080872	0	0	0	2	2	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632472	0.46944	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.79	5.79	0.91817	ZU5 (2);	0.046598	0.85682	D	0.000000	T	0.56949	0.2020	M	0.68317	2.08	0.80722	D	1	B;B;B	0.21309	0.054;0.009;0.031	B;B;B	0.26416	0.069;0.006;0.01	T	0.55617	-0.8113	10	0.66056	D	0.02	-24.3952	18.2119	0.89873	0.0:1.0:0.0:0.0	.	146;565;570	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	G	570;503;501;575;565;146	ENSP00000385143:A570G;ENSP00000392739:A503G;ENSP00000287272:A501G;ENSP00000412652:A575G;ENSP00000394303:A565G;ENSP00000397211:A146G	ENSP00000287272:A501G	A	+	2	0	UNC5D	35708099	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.307000	0.59123	2.746000	0.94184	0.655000	0.94253	GCC	.		0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	41561586	41561586	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:41561586G>A	ENST00000347528.4	-	20	2351	c.2268C>T	c.(2266-2268)aaC>aaT	p.N756N	ANK1_ENST00000265709.8_Silent_p.N789N|ANK1_ENST00000352337.4_Silent_p.N756N|ANK1_ENST00000379758.2_Silent_p.N756N|ANK1_ENST00000396942.1_Silent_p.N756N|ANK1_ENST00000396945.1_Silent_p.N756N|ANK1_ENST00000289734.7_Silent_p.N756N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	756	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)			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)			GGGAAGCACCGTTTTTCAGAA	0.557																																					p.N789N		.											.	ANK1-716	0			c.C2367T						.						138.0	123.0	128.0					8																	41561586		2203	4300	6503	SO:0001819	synonymous_variant	286	exon20			AGCACCGTTTTTC	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.2268C>T	8.37:g.41561586G>A		114	0		99	59	NM_001142446	0	0	0	0	0	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351142	0.01256	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-7.51	0.01346	.	.	.	.	.	T	0.64724	0.2624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69409	-0.5153	4	.	.	.	.	17.278	0.87121	0.4973:0.0:0.5027:0.0	.	.	.	.	W	70	.	.	R	-	1	2	ANK1	41680743	0.023000	0.18921	0.016000	0.15963	0.000000	0.00434	-0.487000	0.06505	-1.704000	0.01407	-2.025000	0.00428	CGG	.		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
OPRK1	4986	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	54147371	54147371	+	Silent	SNP	C	C	T	rs200269505		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:54147371C>T	ENST00000265572.3	-	3	855	c.558G>A	c.(556-558)tcG>tcA	p.S186S	OPRK1_ENST00000520287.1_Silent_p.S186S|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.S97S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	186					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAACAGATGACGACAGCAGCC	0.483																																					p.S186S		.											.	OPRK1-70	0			c.G558A						.						112.0	103.0	106.0					8																	54147371		2203	4300	6503	SO:0001819	synonymous_variant	4986	exon3			AGATGACGACAGC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.558G>A	8.37:g.54147371C>T		185	1		216	69	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			.		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
OPRK1	4986	hgsc.bcm.edu	37	8	54163562	54163562	+	Silent	SNP	C	C	A	rs1051660	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6.0	9.0	8.0		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.36G>T	8.37:g.54163562C>A		0	0		6	4	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
BHLHE22	27319	hgsc.bcm.edu	37	8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	rs62519835	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4.0	5.0	4.0		185	2.0	1.0	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	0	0		7	5	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414	
VCPIP1	80124	hgsc.bcm.edu	37	8	67579170	67579170	+	Silent	SNP	C	C	A	rs76957378		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:67579170C>A	ENST00000310421.4	-	1	282	c.24G>T	c.(22-24)ccG>ccT	p.P8P	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	8	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			gcaacggaggcggcggcggcg	0.692																																					p.P8P	NSCLC(179;265 2915 6144 43644)	.											.	VCPIP1-662	0			c.G24T						.						5.0	7.0	6.0					8																	67579170		1863	3850	5713	SO:0001819	synonymous_variant	80124	exon1			CGGAGGCGGCGGC	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.24G>T	8.37:g.67579170C>A		2	0		27	19	NM_025054	0	0	0	0	0	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																			.		0.692	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
ESRP1	54845	hgsc.bcm.edu;bcgsc.ca	37	8	95686611	95686611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:95686611delA	ENST00000433389.2	+	12	1718	c.1528delA	c.(1528-1530)aaafs	p.K511fs	ESRP1_ENST00000454170.2_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000358397.5_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000423620.2_Frame_Shift_Del_p.K511fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	511	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAGTGTCATAAAAAAAACAT	0.438																																					p.K510fs		.											.	ESRP1-94	2	Insertion - Frameshift(2)	large_intestine(2)	c.1528delA						.						86.0	88.0	87.0					8																	95686611		1883	4113	5996	SO:0001589	frameshift_variant	54845	exon12			TGTCATAAAAAAA	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1528delA	8.37:g.95686611delA	ENSP00000405738:p.Lys511fs	267	3		263	174	NM_001122827	0	0	0	0	0	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Del	DEL	ENST00000433389.2	37	CCDS47897.1																																																																																			.		0.438	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	106814998	106814998	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:106814998G>A	ENST00000407775.2	+	8	2938	c.2688G>A	c.(2686-2688)ccG>ccA	p.P896P	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.P627P|ZFPM2_ENST00000520492.1_Silent_p.P764P|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.P764P	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	896					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P896P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGTGTTTCCGAATCCAGAAA	0.453																																					p.P896P		.											.	ZFPM2-139	1	Substitution - coding silent(1)	large_intestine(1)	c.G2688A						.						47.0	46.0	46.0					8																	106814998		1942	4139	6081	SO:0001819	synonymous_variant	23414	exon8			GTTTCCGAATCCA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2688G>A	8.37:g.106814998G>A		46	0		55	10	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			.		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
SYBU	55638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	110587864	110587864	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:110587864C>T	ENST00000422135.1	-	8	1778	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	SYBU_ENST00000446070.2_Silent_p.T420T|SYBU_ENST00000533171.1_Silent_p.T421T|SYBU_ENST00000440310.1_Silent_p.T421T|SYBU_ENST00000419099.1_Silent_p.T420T|SYBU_ENST00000408908.2_Silent_p.T421T|SYBU_ENST00000533065.1_Silent_p.T302T|SYBU_ENST00000529175.1_Silent_p.T215T|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000276646.9_Silent_p.T421T|SYBU_ENST00000424158.2_Silent_p.T426T|SYBU_ENST00000399066.3_Silent_p.T418T|SYBU_ENST00000528331.1_Silent_p.T302T|SYBU_ENST00000529690.1_Silent_p.T291T|SYBU_ENST00000433638.1_Silent_p.T421T|SYBU_ENST00000532779.1_Silent_p.T353T|SYBU_ENST00000408889.3_Silent_p.T302T|SYBU_ENST00000533895.1_Silent_p.T420T|SYBU_ENST00000528647.1_Silent_p.T420T	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	421					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCCCTTCCCCCGTGACCTGCT	0.522																																					p.T421T		.											.	SYBU-227	0			c.G1263A						.						117.0	116.0	116.0					8																	110587864		1973	4154	6127	SO:0001819	synonymous_variant	55638	exon8			TTCCCCCGTGACC	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1263G>A	8.37:g.110587864C>T		129	0		109	34	NM_001099752	0	0	26	32	6	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																			.		0.522	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
PHF20L1	51105	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	133823330	133823330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:133823330delA	ENST00000395386.2	+	9	1186	c.887delA	c.(886-888)gaafs	p.E296fs	PHF20L1_ENST00000395376.1_Frame_Shift_Del_p.E301fs|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Frame_Shift_Del_p.E270fs|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.E271fs|PHF20L1_ENST00000395379.1_Frame_Shift_Del_p.E296fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	296							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGGTGCTGAAAAAAAGGAA	0.378																																					p.E296fs		.											.	PHF20L1-92	0			c.887delA						.						145.0	155.0	152.0					8																	133823330		2203	4300	6503	SO:0001589	frameshift_variant	51105	exon9			GTGCTGAAAAAAA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.887delA	8.37:g.133823330delA	ENSP00000378784:p.Glu296fs	82	0		71	43	NM_016018	0	0	0	0	0	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	ENST00000395386.2	37	CCDS6367.2																																																																																			.		0.378	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
ZFAT	57623	broad.mit.edu	37	8	135649757	135649757	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:135649757C>T	ENST00000377838.3	-	3	569	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	ZFAT_ENST00000520214.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.R132Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R120Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	132					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GATGTGCTTCCGCAGCTGGCG	0.542																																					p.R132Q		.											.	ZFAT-90	0			c.G395A						.						90.0	96.0	94.0					8																	135649757		2120	4230	6350	SO:0001583	missense	57623	exon3			TGCTTCCGCAGCT	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.395G>A	8.37:g.135649757C>T	ENSP00000367069:p.Arg132Gln	160	0		174	5	NM_001174157	0	0	0	0	0	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027566	0.54683	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.48201	2.95;2.88;2.89;2.88;2.88;2.92;0.82;1.6	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.077889	0.39544	N	0.001322	T	0.41282	0.1152	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63880	0.989;0.968;0.993;0.989	B;B;P;B	0.52909	0.443;0.194;0.713;0.443	T	0.23976	-1.0173	10	0.13470	T	0.59	-25.5669	8.5778	0.33609	0.0:0.763:0.1547:0.0823	.	132;120;120;132	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	120;120;120;132;120;120;132;120;70;120	ENSP00000427879:R120Q;ENSP00000427831:R120Q;ENSP00000394501:R120Q;ENSP00000367069:R132Q;ENSP00000428483:R120Q;ENSP00000429091:R132Q;ENSP00000429983:R70Q;ENSP00000428192:R120Q	ENSP00000326997:R120Q	R	-	2	0	ZFAT	135718939	0.043000	0.20138	0.949000	0.38748	0.996000	0.88848	1.766000	0.38491	2.402000	0.81655	0.561000	0.74099	CGG	.		0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	139278014	139278014	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:139278014G>A	ENST00000395297.1	-	4	399	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTCATTCCGGTATAAGATC	0.483										HNSCC(54;0.14)																											p.R77W		.											.	FAM135B-31	0			c.C229T						.						96.0	94.0	95.0					8																	139278014		1948	4151	6099	SO:0001583	missense	51059	exon4			CATTCCGGTATAA	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.229C>T	8.37:g.139278014G>A	ENSP00000378710:p.Arg77Trp	104	0		135	9	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166150	0.78339	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.17854	2.25	5.92	2.22	0.28083	.	0.000000	0.64402	U	0.000003	T	0.40015	0.1100	M	0.77820	2.39	0.41237	D	0.986616	D	0.89917	1.0	D	0.91635	0.999	T	0.33854	-0.9852	10	0.87932	D	0	-15.4773	11.4263	0.50012	0.0:0.0:0.3209:0.6791	.	77	Q49AJ0	F135B_HUMAN	W	77	ENSP00000378710:R77W	ENSP00000160713:R77W	R	-	1	2	FAM135B	139347196	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.608000	0.24223	0.542000	0.28846	-0.127000	0.14921	CGG	.		0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
GPR20	2843	hgsc.bcm.edu	37	8	142367290	142367290	+	Missense_Mutation	SNP	G	G	A	rs552858075		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:142367290G>A	ENST00000377741.3	-	2	824	c.734C>T	c.(733-735)aCg>aTg	p.T245M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GATGAGCACCGTGAGCAGGAG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.0				p.T245M		.											.	GPR20-91	0			c.C734T						.						22.0	18.0	19.0					8																	142367290		2195	4293	6488	SO:0001583	missense	2843	exon2			AGCACCGTGAGCA	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.734C>T	8.37:g.142367290G>A	ENSP00000366970:p.Thr245Met	6	0		43	29	NM_005293	0	0	0	0	0	Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111828	0.77210	.	.	ENSG00000204882	ENST00000377741	T	0.37584	1.19	4.99	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.068148	0.56097	U	0.000021	T	0.50309	0.1608	L	0.41492	1.28	0.45676	D	0.998598	D	0.89917	1.0	D	0.76071	0.987	T	0.51616	-0.8683	10	0.62326	D	0.03	-27.3861	14.2745	0.66170	0.0:0.1499:0.8501:0.0	.	245	Q99678	GPR20_HUMAN	M	245	ENSP00000366970:T245M	ENSP00000366970:T245M	T	-	2	0	GPR20	142436472	0.983000	0.35010	0.993000	0.49108	0.910000	0.53928	3.179000	0.50887	1.049000	0.40321	0.462000	0.41574	ACG	.		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293	
MROH6	642475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	144653155	144653155	+	Silent	SNP	G	G	A	rs541151034		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:144653155G>A	ENST00000398882.3	-	4	868	c.612C>T	c.(610-612)gcC>gcT	p.A204A	MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000524906.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	204																	GCCAGAGCTCGGCTGCTACCC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10296	0.0		0.0	False		,,,				2504	0.0				p.A204A		.											.	.	0			c.C612T						.						12.0	15.0	14.0					8																	144653155		1620	3258	4878	SO:0001819	synonymous_variant	642475	exon4			GAGCTCGGCTGCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.612C>T	8.37:g.144653155G>A		69	0		97	9	NM_001100878	0	0	0	1	1	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			.		0.647	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
EPPK1	83481	bcgsc.ca	37	8	144940290	144940290	+	Missense_Mutation	SNP	C	C	G	rs201976887		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:144940290C>G	ENST00000525985.1	-	2	7203	c.7132G>C	c.(7132-7134)Gac>Cac	p.D2378H				P58107	EPIPL_HUMAN	epiplakin 1	2378						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGCTGGGGTCGGCCAGGACG	0.682																																					p.D2378H		.											.	EPPK1-25	0			c.G7132C						.	C	HIS/ASP	51,4341	20.2+/-43.8	0,51,2145	315.0	292.0	300.0		7132	3.6	0.8	8		300	22,8530	7.1+/-27.0	0,22,4254	no	missense	EPPK1	NM_031308.1	81	0,73,6399	GG,GC,CC		0.2572,1.1612,0.564	probably-damaging	2378/2420	144940290	73,12871	2196	4276	6472	SO:0001583	missense	83481	exon1			TGGGGTCGGCCAG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7132G>C	8.37:g.144940290C>G	ENSP00000436337:p.Asp2378His	63	0		284	35	NM_031308	0	0	3	3	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.279155	0.80692	0.011612	0.002572	ENSG00000227184	ENST00000525985	T	0.74737	-0.87	4.43	3.56	0.40772	.	.	.	.	.	D	0.83133	0.5188	M	0.89785	3.06	0.42176	D	0.991666	D	0.89917	1.0	D	0.91635	0.999	D	0.86316	0.1689	9	0.62326	D	0.03	.	10.4012	0.44231	0.0:0.9038:0.0:0.0962	.	2378	E9PPU0	.	H	2378	ENSP00000436337:D2378H	ENSP00000436337:D2378H	D	-	1	0	EPPK1	145012278	1.000000	0.71417	0.773000	0.31616	0.942000	0.58702	7.555000	0.82223	1.223000	0.43536	0.591000	0.81541	GAC	.		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
PLEC	5339	hgsc.bcm.edu	37	8	144998514	144998514	+	Silent	SNP	C	C	T	rs75586449	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:144998514C>T	ENST00000322810.4	-	31	6163	c.5994G>A	c.(5992-5994)gcG>gcA	p.A1998A	PLEC_ENST00000354958.2_Silent_p.A1839A|PLEC_ENST00000356346.3_Silent_p.A1847A|PLEC_ENST00000398774.2_Silent_p.A1829A|PLEC_ENST00000527096.1_Silent_p.A1884A|PLEC_ENST00000357649.2_Silent_p.A1865A|PLEC_ENST00000345136.3_Silent_p.A1861A|PLEC_ENST00000354589.3_Silent_p.A1861A|PLEC_ENST00000436759.2_Silent_p.A1888A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1998	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)			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						GCTCGTTCTCCGCCTCCTTCT	0.726													T|||	349	0.0696885	0.0113	0.1412	5008	,	,		11250	0.0437		0.0358	False		,,,				2504	0.1595				p.A1998A		.											.	PLEC-141	0			c.G5994A						.	T	,,,,,,,	38,3548		0,38,1755	7.0	9.0	8.0		5664,5541,5517,5994,5487,5583,5595,5583	-5.2	0.8	8	dbSNP_131	8	272,7344		2,268,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	2,306,5293	TT,TC,CC		3.5714,1.0597,2.7674	,,,,,,,	1888/4575,1847/4534,1839/4526,1998/4685,1829/4516,1861/4548,1865/4552,1861/4548	144998514	310,10892	1793	3808	5601	SO:0001819	synonymous_variant	5339	exon31			GTTCTCCGCCTCC	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.5994G>A	8.37:g.144998514C>T		0	0		4	4	NM_201380	0	0	4	11	7	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.961;T|0.039		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SPATC1	375686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145094825	145094825	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145094825C>T	ENST00000377470.3	+	2	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P76L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCCCCCGTCCCCAGCA	0.627																																					p.P76L		.											.	SPATC1-91	0			c.C227T						.						68.0	74.0	72.0					8																	145094825		2203	4300	6503	SO:0001583	missense	375686	exon2			TGCCCCCGTCCCC	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.227C>T	8.37:g.145094825C>T	ENSP00000366690:p.Pro76Leu	70	0		107	26	NM_001134374	0	0	0	0	0	B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658372	0.29425	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.51817	0.69;0.69	5.05	2.79	0.32731	.	0.577983	0.15653	N	0.251268	T	0.54415	0.1857	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.354	P;B	0.57548	0.823;0.025	T	0.46205	-0.9208	10	0.66056	D	0.02	-14.049	3.7743	0.08654	0.2336:0.6174:0.0:0.149	.	76;76	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	76	ENSP00000366690:P76L;ENSP00000387613:P76L	ENSP00000366690:P76L	P	+	2	0	SPATC1	145166813	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	0.087000	0.14958	1.218000	0.43458	0.650000	0.86243	CCG	.		0.627	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572	
OPLAH	26873	hgsc.bcm.edu;broad.mit.edu	37	8	145106724	145106724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145106724delC	ENST00000426825.1	-	27	3707	c.3626delG	c.(3625-3627)ggcfs	p.G1209fs	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1209					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGCTCGCCCCCTGCGGA	0.736																																					p.G1209fs		.											.	OPLAH-68	0			c.3626delG						.						12.0	14.0	13.0					8																	145106724		1796	4048	5844	SO:0001589	frameshift_variant	26873	exon27			GGCTCGCCCCCTG	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3626delG	8.37:g.145106724delC	ENSP00000475943:p.Gly1209fs	5	0		36	10	NM_017570	0	0	0	0	0	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																				.		0.736	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
CPSF1	29894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145620718	145620718	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145620718G>T	ENST00000349769.3	-	27	3122	c.3028C>A	c.(3028-3030)Cca>Aca	p.P1010T	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1010					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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 and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACAGGCCATGGGGCATCATAG	0.662																																					p.P1010T	NSCLC(133;1088 1848 27708 34777 35269)	.											.	CPSF1-91	0			c.C3028A						.						46.0	41.0	43.0					8																	145620718		2203	4300	6503	SO:0001583	missense	29894	exon27			GCCATGGGGCATC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3028C>A	8.37:g.145620718G>T	ENSP00000339353:p.Pro1010Thr	108	0		222	75	NM_013291	0	0	66	78	12	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765692	0.31228	.	.	ENSG00000071894	ENST00000349769	T	0.75938	-0.98	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.78801	2.425	0.80722	D	1	P	0.34615	0.459	B	0.37387	0.248	T	0.72357	-0.4318	10	0.13470	T	0.59	-6.5918	16.7014	0.85350	0.0:0.0:1.0:0.0	.	1010	Q10570	CPSF1_HUMAN	T	1010	ENSP00000339353:P1010T	ENSP00000339353:P1010T	P	-	1	0	CPSF1	145591526	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	5.904000	0.69886	2.534000	0.85438	0.536000	0.68110	CCA	.		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
KIFC2	90990	hgsc.bcm.edu	37	8	145697835	145697835	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145697835T>C	ENST00000301332.2	+	15	2076	c.1699T>C	c.(1699-1701)Tgg>Cgg	p.W567R	KIFC2_ENST00000531423.1_3'UTR|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	567	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCACCCACTGGGACGTGCC	0.701																																					p.W567R		.											.	KIFC2-92	0			c.T1699C						.						24.0	28.0	26.0					8																	145697835		2198	4297	6495	SO:0001583	missense	90990	exon15			ACCCACTGGGACG	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1699T>C	8.37:g.145697835T>C	ENSP00000301332:p.Trp567Arg	7	0		135	82	NM_145754	0	0	21	70	49	E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742825	0.49151	.	.	ENSG00000167702	ENST00000301332	T	0.39787	1.06	4.76	3.6	0.41247	Kinesin, motor domain (4);	0.000000	0.32147	N	0.006517	T	0.22282	0.0537	N	0.00991	-1.07	0.31701	N	0.640713	P	0.42735	0.788	P	0.53649	0.731	T	0.11470	-1.0586	10	0.33940	T	0.23	-19.8467	4.1782	0.10362	0.1773:0.0951:0.0:0.7276	.	567	Q96AC6	KIFC2_HUMAN	R	567	ENSP00000301332:W567R	ENSP00000301332:W567R	W	+	1	0	KIFC2	145668643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.581000	0.46077	0.843000	0.35070	0.482000	0.46254	TGG	.		0.701	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754	
MFSD3	113655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145736909	145736909	+	IGR	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145736909C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.G1178R|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGTCCTGCCCGTACACCTGG	0.672																																					p.G1178R		.											.	RECQL4-1083	0			c.G3532A						.						35.0	41.0	39.0					8																	145736909		1940	4143	6083	SO:0001628	intergenic_variant	9401	exon22			CCTGCCCGTACAC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145736909C>T		86	0		182	40	NM_004260	0	1	64	89	24		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																			.		0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431	
CBWD1	55871	ucsc.edu;bcgsc.ca	37	9	163985	163985	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:163985A>G	ENST00000356521.4	-	5	571	c.483T>C	c.(481-483)taT>taC	p.Y161Y	CBWD1_ENST00000377447.3_Silent_p.Y161Y|CBWD1_ENST00000377400.4_Silent_p.Y161Y|CBWD1_ENST00000431099.2_Silent_p.Y125Y|CBWD1_ENST00000314367.10_Silent_p.Y125Y|CBWD1_ENST00000382447.4_Silent_p.Y161Y	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	161							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TACCATCAAGATAAATATCAC	0.323																																					p.Y161Y		.											.	CBWD1-469	0			c.T483C						.						52.0	80.0	70.0					9																	163985		1501	2702	4203	SO:0001819	synonymous_variant	55871	exon5			ATCAAGATAAATA	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.483T>C	9.37:g.163985A>G		167	3		186	25	NM_001145356	0	0	0	1	1	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	ENST00000356521.4	37	CCDS6438.1																																																																																			.		0.323	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	
C9orf66	157983	hgsc.bcm.edu	37	9	215057	215057	+	Missense_Mutation	SNP	T	T	C	rs481905	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:215057T>C	ENST00000382387.2	-	1	836	c.340A>G	c.(340-342)Aac>Gac	p.N114D	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	114										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGCGCAGGTTGCGGCCGGAC	0.736													C|||	3213	0.641573	0.705	0.611	5008	,	,		9955	0.7401		0.4811	False		,,,				2504	0.6411				p.N114D		.											.	C9orf66-514	0			c.A340G						.	C	,ASP/ASN	1480,1394		426,628,383	3.0	4.0	4.0		,340	1.6	0.0	9	dbSNP_83	4	2555,3973		602,1351,1311	yes	intron,missense	DOCK8,C9orf66	NM_203447.3,NM_152569.2	,23	1028,1979,1694	CC,CT,TT		39.1391,48.5038,42.9164	,benign	,114/296	215057	4035,5367	1437	3264	4701	SO:0001583	missense	157983	exon1			GCAGGTTGCGGCC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.340A>G	9.37:g.215057T>C	ENSP00000371824:p.Asn114Asp	0	0		5	5	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	1282	0.586996336996337	342	0.6951219512195121	195	0.5386740331491713	381	0.666083916083916	364	0.48021108179419525	C	9.821	1.185669	0.21870	0.514962	0.391391	ENSG00000183784	ENST00000382387	T	0.22539	1.95	2.56	1.6	0.23607	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.47153	P	6.620000000000514E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	8	0.87932	D	0	.	4.3	0.10920	0.0:0.6131:0.2361:0.1509	rs481905;rs58620149	114	Q5T8R8	CI066_HUMAN	D	114	ENSP00000371824:N114D	ENSP00000371824:N114D	N	-	1	0	C9orf66	205057	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.471000	0.06631	-0.029000	0.13827	-0.642000	0.03964	AAC	T|0.413;C|0.587		0.736	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569	
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	712006	712006	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:712006G>A	ENST00000382303.1	+	7	1892	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.V414M|KANK1_ENST00000382293.3_Missense_Mutation_p.V256M	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	414	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGACATCGTCGTGTACCACAG	0.567																																					p.V414M		.											.	KANK1-517	0			c.G1240A						.						115.0	91.0	99.0					9																	712006		2203	4300	6503	SO:0001583	missense	23189	exon7			ATCGTCGTGTACC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1240G>A	9.37:g.712006G>A	ENSP00000371740:p.Val414Met	205	0		321	24	NM_001256876	0	0	1	1	0	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622302	0.28889	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.41065	1.01;1.01;1.06	5.41	3.46	0.39613	.	0.154071	0.30252	N	0.010046	T	0.45994	0.1370	M	0.61703	1.905	0.31350	N	0.682602	D;D	0.65815	0.995;0.995	P;P	0.51945	0.685;0.605	T	0.54002	-0.8358	10	0.45353	T	0.12	-3.4884	6.604	0.22716	0.2202:0.1375:0.6422:0.0	.	414;414	Q5W0W1;Q14678	.;KANK1_HUMAN	M	414;414;414;256	ENSP00000371740:V414M;ENSP00000371734:V414M;ENSP00000371730:V256M	ENSP00000346479:V414M	V	+	1	0	KANK1	702006	0.944000	0.32072	0.822000	0.32727	0.434000	0.31775	1.946000	0.40283	1.428000	0.47296	0.655000	0.94253	GTG	.		0.567	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	738458	738458	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000382293.3_Silent_p.S1011S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527																																					p.S1169S		.											.	KANK1-517	0			c.C3507T						.						150.0	114.0	126.0					9																	738458		2203	4300	6503	SO:0001819	synonymous_variant	23189	exon12			TTACAGCGTGTCC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3507C>T	9.37:g.738458C>T		206	0		274	58	NM_001256876	0	0	2	3	1	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			.		0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
VLDLR	7436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	2643347	2643347	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:2643347C>T	ENST00000382100.3	+	5	992	c.636C>T	c.(634-636)tgC>tgT	p.C212C	VLDLR_ENST00000382099.2_Silent_p.C212C|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	212	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCTGGGTATGCGACGATGATG	0.597																																					p.C212C		.											.	VLDLR-516	0			c.C636T						.						71.0	57.0	62.0					9																	2643347		2203	4300	6503	SO:0001819	synonymous_variant	7436	exon5			GGTATGCGACGAT		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.636C>T	9.37:g.2643347C>T		165	0		293	75	NM_003383	0	0	4	4	0	B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	CCDS6446.1																																																																																			.		0.597	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
ERMP1	79956	hgsc.bcm.edu	37	9	5832719	5832719	+	Missense_Mutation	SNP	G	G	C	rs13302671	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:5832719G>C	ENST00000339450.5	-	1	398	c.309C>G	c.(307-309)caC>caG	p.H103Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	103						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACTCCCCGCGGTGTCCAGCGG	0.751													G|||	78	0.0155751	0.0204	0.0216	5008	,	,		2342	0.001		0.0318	False		,,,				2504	0.0031				p.H103Q		.											.	ERMP1-69	0			c.C309G						.	G	GLN/HIS	34,3206		0,34,1586	4.0	3.0	3.0		309	4.4	0.0	9	dbSNP_121	3	104,6552		0,104,3224	yes	missense	ERMP1	NM_024896.2	24	0,138,4810	CC,CG,GG		1.5625,1.0494,1.3945	benign	103/905	5832719	138,9758	1620	3328	4948	SO:0001583	missense	79956	exon1			CCCGCGGTGTCCA	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.309C>G	9.37:g.5832719G>C	ENSP00000340427:p.His103Gln	0	0		8	6	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	38	0.0173992673992674	13	0.026422764227642278	8	0.022099447513812154	0	0.0	17	0.022427440633245383	G	5.805	0.332747	0.11013	0.010494	0.015625	ENSG00000099219	ENST00000339450	T	0.43294	0.95	4.44	4.44	0.53790	.	1.479950	0.04451	N	0.372552	T	0.14700	0.0355	L	0.38175	1.15	0.43377	D	0.995479	B;B	0.14438	0.01;0.009	B;B	0.11329	0.004;0.006	T	0.06770	-1.0808	10	0.11182	T	0.66	0.2942	10.7252	0.46064	0.0883:0.0:0.9117:0.0	rs13302671	103;103	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	Q	103	ENSP00000340427:H103Q	ENSP00000340427:H103Q	H	-	3	2	ERMP1	5822719	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	0.333000	0.19768	2.009000	0.58944	0.462000	0.41574	CAC	G|0.981;C|0.019		0.751	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
BNC2	54796	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	16419579	16419579	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:16419579G>A	ENST00000380672.4	-	7	2765	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	BNC2_ENST00000545497.1_Missense_Mutation_p.S808L|BNC2_ENST00000380667.2_Missense_Mutation_p.S836L	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGCTGCGACGAGTCCAGGCC	0.537																																					p.S903L		.											.	BNC2-92	0			c.C2708T						.						81.0	88.0	85.0					9																	16419579		2203	4300	6503	SO:0001583	missense	54796	exon7			TGCGACGAGTCCA	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2708C>T	9.37:g.16419579G>A	ENSP00000370047:p.Ser903Leu	67	1		70	67	NM_017637	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063277	0.20067	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.32753	1.44;1.45;1.45	5.59	5.59	0.84812	.	0.118006	0.64402	D	0.000014	T	0.25344	0.0616	L	0.40543	1.245	0.80722	D	1	B;B;B	0.32731	0.296;0.382;0.382	B;B;B	0.25291	0.059;0.027;0.027	T	0.06058	-1.0848	10	0.11485	T	0.65	-1.2539	19.6005	0.95560	0.0:0.0:1.0:0.0	.	808;903;668	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	L	903;836;808	ENSP00000370047:S903L;ENSP00000370042:S836L;ENSP00000444640:S808L	ENSP00000370042:S836L	S	-	2	0	BNC2	16409579	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	TCG	.		0.537	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
ANKRD18B	441459	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	9	33572324	33572324	+	Missense_Mutation	SNP	G	G	A	rs561973679		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:33572324G>A	ENST00000290943.6	+	16	3098	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	1001										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						CTTTTGCTGCGTTGGGCCCTT	0.338																																					p.R1000H		.											.	.	0			c.G2999A						.																																			SO:0001583	missense	441459	exon16			TGCTGCGTTGGGC			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.3002G>A	9.37:g.33572324G>A	ENSP00000290943:p.Arg1001His	238	0		266	51	NM_001244752	0	0	0	0	0		Missense_Mutation	SNP	ENST00000290943.6	37		.	.	.	.	.	.	.	.	.	.	G	3.133	-0.178102	0.06380	.	.	ENSG00000230453	ENST00000290943	T	0.28255	1.62	1.46	-1.55	0.08558	.	.	.	.	.	T	0.18509	0.0444	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28681	-1.0036	5	0.33940	T	0.23	.	1.4432	0.02358	0.4388:0.0:0.2444:0.3168	.	.	.	.	H	1001	ENSP00000290943:R1001H	ENSP00000290943:R1001H	R	+	2	0	ANKRD18B	33562324	0.025000	0.19082	0.001000	0.08648	0.004000	0.04260	0.535000	0.23114	-0.395000	0.07715	0.298000	0.19748	CGT	.		0.338	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000313729.2	XM_001718334	
KIF24	347240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	34306372	34306372	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:34306372G>A	ENST00000402558.2	-	2	715	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	KIF24_ENST00000379174.3_Missense_Mutation_p.R231C|KIF24_ENST00000345050.2_Missense_Mutation_p.R231C|KIF24_ENST00000379166.2_Missense_Mutation_p.R231C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCAGGGGGCGTTTTCGAACA	0.378																																					p.R231C		.											.	KIF24-22	0			c.C691T						.						185.0	177.0	179.0					9																	34306372		1815	4081	5896	SO:0001583	missense	347240	exon3			GGGGGCGTTTTCG	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.691C>T	9.37:g.34306372G>A	ENSP00000384433:p.Arg231Cys	114	1		93	85	NM_194313	0	0	0	0	0	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665438	0.88251	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	D;T;D;T	0.85339	-1.97;1.3;-1.97;1.3	5.74	5.74	0.90152	Kinesin, motor domain (4);	0.000000	0.43110	D	0.000614	D	0.96546	0.8873	H	0.99697	4.71	0.42896	D	0.994212	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98260	1.0498	10	0.72032	D	0.01	.	19.9179	0.97070	0.0:0.0:1.0:0.0	.	231;231	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	C	231	ENSP00000384433:R231C;ENSP00000368472:R231C;ENSP00000368464:R231C;ENSP00000340179:R231C	ENSP00000340179:R231C	R	-	1	0	KIF24	34296372	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.033000	0.76504	2.723000	0.93209	0.655000	0.94253	CGC	.		0.378	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
TLN1	7094	hgsc.bcm.edu;broad.mit.edu	37	9	35715145	35715145	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:35715145G>A	ENST00000314888.9	-	21	3018	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	TLN1_ENST00000540444.1_Missense_Mutation_p.R889W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	889					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)			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)			TCCCGCAGCCGCTGCTGCTGC	0.622																																					p.R889W		.											.	TLN1-609	0			c.C2665T						.						30.0	34.0	33.0					9																	35715145		2186	4269	6455	SO:0001583	missense	7094	exon21			GCAGCCGCTGCTG	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.2665C>T	9.37:g.35715145G>A	ENSP00000316029:p.Arg889Trp	25	0		91	5	NM_006289	0	0	4	4	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540428	0.85917	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69040	-0.37;-0.37	5.67	4.77	0.60923	.	0.056027	0.64402	D	0.000001	T	0.71195	0.3311	L	0.44542	1.39	0.49582	D	0.999808	D	0.62365	0.991	P	0.54629	0.757	T	0.74685	-0.3582	10	0.66056	D	0.02	-21.31	16.092	0.81098	0.0:0.0:0.8651:0.1349	.	889	Q9Y490	TLN1_HUMAN	W	889	ENSP00000316029:R889W;ENSP00000442981:R889W	ENSP00000316029:R889W	R	-	1	2	TLN1	35705145	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.067000	0.57527	1.381000	0.46364	-0.310000	0.09108	CGG	.		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
TMEM8B	51754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35853771	35853771	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:35853771C>T	ENST00000377991.4	+	14	2368	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	TMEM8B_ENST00000377988.2_Silent_p.N451N	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	451					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TATGCATCAACGAGCAGGAGG	0.672																																					p.N451N		.											.	TMEM8B-91	0			c.C1353T						.						40.0	45.0	43.0					9																	35853771		1881	4097	5978	SO:0001819	synonymous_variant	51754	exon13			CATCAACGAGCAG	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1353C>T	9.37:g.35853771C>T		13	0		43	37	NM_001042590	0	0	0	16	16	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	CCDS43800.1																																																																																			.		0.672	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	
GRHPR	9380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	37428531	37428531	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:37428531C>T	ENST00000318158.6	+	5	540	c.455C>T	c.(454-456)aCg>aTg	p.T152M	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Missense_Mutation_p.T152M	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	152					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TATGGACTCACGCAGAGCACT	0.667																																					p.T152M		.											.	GRHPR-90	0			c.C455T						.						91.0	94.0	93.0					9																	37428531		2203	4300	6503	SO:0001583	missense	9380	exon5			GACTCACGCAGAG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.455C>T	9.37:g.37428531C>T	ENSP00000313432:p.Thr152Met	30	0		123	115	NM_012203	0	0	0	75	75	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391029	0.62066	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.80566	-1.39;-1.39	5.77	3.9	0.45041	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.241176	0.49916	D	0.000130	T	0.81889	0.4918	L	0.39147	1.195	0.20307	N	0.999919	D;P;P	0.60575	0.988;0.633;0.633	P;P;P	0.61328	0.887;0.519;0.519	T	0.72297	-0.4335	10	0.34782	T	0.22	4.1945	11.4209	0.49980	0.1249:0.8089:0.0:0.0662	.	152;152;152	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	M	152	ENSP00000367055:T152M;ENSP00000313432:T152M	ENSP00000313432:T152M	T	+	2	0	GRHPR	37418531	0.898000	0.30612	0.182000	0.23118	0.920000	0.55202	3.069000	0.50026	1.430000	0.47334	0.650000	0.86243	ACG	.		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203	
TJP2	9414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	71861604	71861604	+	Splice_Site	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:71861604A>G	ENST00000377245.4	+	18	2774		c.e18-1		TJP2_ENST00000453658.2_Splice_Site|TJP2_ENST00000539225.1_Splice_Site|TJP2_ENST00000348208.4_Splice_Site|TJP2_ENST00000265384.7_Splice_Site|TJP2_ENST00000535702.1_Splice_Site|TJP2_ENST00000498204.1_3'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATATTTCTATAGCTACAATCA	0.363																																					.		.											.	TJP2-115	0			c.2498-2A>G						.						97.0	94.0	95.0					9																	71861604		2203	4300	6503	SO:0001630	splice_region_variant	9414	exon19			TTCTATAGCTACA	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2567-1A>G	9.37:g.71861604A>G		80	0		94	94	NM_001170414	0	0	0	0	0	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Splice_Site	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222801	0.58668	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2366	0.73436	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TJP2	71051424	1.000000	0.71417	0.896000	0.35187	0.704000	0.40688	8.856000	0.92245	2.244000	0.73946	0.533000	0.62120	.	.		0.363	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	Intron
TMEM2	23670	broad.mit.edu;bcgsc.ca	37	9	74305086	74305086	+	Missense_Mutation	SNP	C	C	T	rs368725693	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:74305086C>T	ENST00000377044.4	-	22	4312	c.3773G>A	c.(3772-3774)cGc>cAc	p.R1258H	TMEM2_ENST00000396272.3_Missense_Mutation_p.R251H|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1195H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1258					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		TTCCGTCAAGCGGAATGGAAC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		22698	0.002		0.0	False		,,,				2504	0.0				p.R1258H		.											.	TMEM2-92	0			c.G3773A						.						137.0	117.0	124.0					9																	74305086		2203	4300	6503	SO:0001583	missense	23670	exon22			GTCAAGCGGAATG		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.3773G>A	9.37:g.74305086C>T	ENSP00000366243:p.Arg1258His	183	0		244	11	NM_013390	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757445	0.49468	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.73575	-0.76;-0.69;2.47	5.98	4.16	0.48862	.	0.164580	0.53938	D	0.000048	T	0.63733	0.2536	L	0.44542	1.39	0.38805	D	0.955295	B;B	0.19200	0.02;0.034	B;B	0.14023	0.004;0.01	T	0.59118	-0.7514	10	0.37606	T	0.19	.	8.2724	0.31853	0.0:0.7205:0.1368:0.1427	.	1258;1195	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	1258;1195;251	ENSP00000366243:R1258H;ENSP00000366266:R1195H;ENSP00000379569:R251H	ENSP00000366243:R1258H	R	-	2	0	TMEM2	73494906	0.468000	0.25839	0.976000	0.42696	0.313000	0.28021	0.349000	0.20055	0.872000	0.35775	-0.143000	0.13931	CGC	.		0.473	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
VPS13A	23230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	79933230	79933230	+	Missense_Mutation	SNP	C	C	T	rs144009026		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:79933230C>T	ENST00000360280.3	+	41	5296	c.5036C>T	c.(5035-5037)aCg>aTg	p.T1679M	VPS13A_ENST00000376634.4_Missense_Mutation_p.T1679M|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1679M|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1640M|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1679					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGAAGAAACGGCTTCTTCT	0.318																																					p.T1679M		.											.	VPS13A-161	0			c.C5036T						.	C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	86.0	91.0	89.0		4919,5036,5036,5036	0.3	0.0	9	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	81,81,81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1640/3136,1679/3070,1679/3096,1679/3175	79933230	2,13004	2203	4300	6503	SO:0001583	missense	23230	exon41			AAGAAACGGCTTC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5036C>T	9.37:g.79933230C>T	ENSP00000353422:p.Thr1679Met	104	0		123	113	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	3.684	-0.065017	0.07273	2.27E-4	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.03	0.297	0.15762	.	1.128900	0.06421	N	0.722385	T	0.13628	0.0330	L	0.54323	1.7	0.09310	N	1	P;P;D;D	0.53462	0.485;0.932;0.96;0.96	B;B;B;B	0.42555	0.09;0.148;0.391;0.391	T	0.24083	-1.0170	10	0.54805	T	0.06	.	3.0128	0.06049	0.3505:0.4056:0.0979:0.146	.	1640;1679;1679;1679	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	M	1679;1640;1679;1679	ENSP00000365821:T1679M;ENSP00000365823:T1640M;ENSP00000353422:T1679M;ENSP00000349985:T1679M	ENSP00000349985:T1679M	T	+	2	0	VPS13A	79123050	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.118000	0.15605	0.071000	0.16664	0.460000	0.39030	ACG	C|1.000;T|0.000		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
WNK2	65268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	96021245	96021245	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:96021245G>A	ENST00000297954.4	+	11	2415	c.2415G>A	c.(2413-2415)acG>acA	p.T805T	WNK2_ENST00000427277.2_Silent_p.T417T|WNK2_ENST00000395477.2_Silent_p.T805T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.T739T|WNK2_ENST00000349097.3_Silent_p.T417T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	805					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCCATCACGCCCCTGGCGG	0.652																																					p.T805T		.											.	WNK2-765	0			c.G2415A						.						34.0	38.0	37.0					9																	96021245		2203	4299	6502	SO:0001819	synonymous_variant	65268	exon11			CATCACGCCCCTG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2415G>A	9.37:g.96021245G>A		83	0		288	37	NM_006648	0	0	3	3	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.994|3.994	-0.003964|-0.003964	0.07773|0.07773	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.01|5.01	-10.0|-10.0	0.00425|0.00425	.|.	.|.	.|.	.|.	.|.	T|T	0.32376|0.32376	0.0827|0.0827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46952|0.46952	-0.9154|-0.9154	4|4	.|.	.|.	.|.	.|.	1.4373|1.4373	0.02346|0.02346	0.3134:0.1967:0.0854:0.4045|0.3134:0.1967:0.0854:0.4045	.|.	.|.	.|.	.|.	T|H	409|801	.|.	.|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95061066|95061066	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.506000|0.506000	0.33950|0.33950	-2.189000|-2.189000	0.01248|0.01248	-3.650000|-3.650000	0.00126|0.00126	0.462000|0.462000	0.41574|0.41574	GCC|CGC	.		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
WNK2	65268	broad.mit.edu	37	9	96021293	96021293	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:96021293G>A	ENST00000297954.4	+	11	2463	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	WNK2_ENST00000427277.2_Silent_p.P433P|WNK2_ENST00000395477.2_Silent_p.P821P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.P755P|WNK2_ENST00000349097.3_Silent_p.P433P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	821					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGACCTGCCGACCGCGACTG	0.672																																					p.P821P		.											.	WNK2-765	0			c.G2463A						.						35.0	41.0	39.0					9																	96021293		2203	4299	6502	SO:0001819	synonymous_variant	65268	exon11			CCTGCCGACCGCG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2463G>A	9.37:g.96021293G>A		22	0		248	6	NM_006648	0	0	0	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.136|1.136	-0.650845|-0.650845	0.03506|0.03506	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.01|5.01	0.464|0.464	0.16706|0.16706	.|.	.|.	.|.	.|.	.|.	T|T	0.40040|0.40040	0.1101|0.1101	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23048|0.23048	-1.0199|-1.0199	4|4	.|.	.|.	.|.	.|.	0.6452|0.6452	0.00817|0.00817	0.3102:0.112:0.3224:0.2554|0.3102:0.112:0.3224:0.2554	.|.	.|.	.|.	.|.	N|Q	425|817	.|.	.|.	D|R	+|+	1|2	0|0	WNK2|WNK2	95061114|95061114	0.001000|0.001000	0.12720|0.12720	0.869000|0.869000	0.34112|0.34112	0.005000|0.005000	0.04900|0.04900	-1.530000|-1.530000	0.02221|0.02221	0.139000|0.139000	0.18822|0.18822	-0.448000|-0.448000	0.05591|0.05591	GAC|CGA	.		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
CCDC180	100499483	bcgsc.ca	37	9	100070351	100070351	+	Silent	SNP	G	G	A	rs12683119	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:100070351G>A	ENST00000357054.1	+	16	1490	c.555G>A	c.(553-555)tcG>tcA	p.S185S	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.S46S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S46S|CCDC180_ENST00000411667.2_Silent_p.S46S|CCDC180_ENST00000395220.1_Silent_p.S185S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	185						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAAGATGTCGTCAGTGGGGA	0.592																																					p.S46S		.											.	.	0			c.G138A						.						72.0	65.0	67.0					9																	100070351		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			GATGTCGTCAGTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.555G>A	9.37:g.100070351G>A		212	0		386	11	NM_020893	0	0	0	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				G|0.813;C|0.187		0.592	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
NCBP1	4686	hgsc.bcm.edu;bcgsc.ca	37	9	100409836	100409838	+	In_Frame_Del	DEL	AAG	AAG	-	rs150415739		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:100409836_100409838delAAG	ENST00000375147.3	+	7	930_932	c.674_676delAAG	c.(673-678)caagaa>caa	p.E227del		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	227	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CCACATCCACAAGAAGAGGTAAA	0.365																																					p.225_226del	Ovarian(36;879 898 2893 44212 50307)	.											.	NCBP1-90	0			c.674_676del						.																																			SO:0001651	inframe_deletion	4686	exon7			ATCCACAAGAAGA	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.674_676delAAG	9.37:g.100409839_100409841delAAG	ENSP00000364289:p.Glu227del	81	2		71	69	NM_002486	0	0	0	0	0	B2R718|Q59G76|Q5T1V0|Q5T7X2	In_Frame_Del	DEL	ENST00000375147.3	37	CCDS6728.1																																																																																			.		0.365	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
INVS	27130	broad.mit.edu	37	9	102888723	102888723	+	Silent	SNP	C	C	T	rs552421229	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:102888723C>T	ENST00000262457.2	+	3	350	c.165C>T	c.(163-165)tgC>tgT	p.C55C	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000374921.3_Silent_p.C55C|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Silent_p.C55C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	55					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTATGTATTGCGTGTTGGCTG	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		19558	0.0		0.0	False		,,,				2504	0.002				p.C55C		.											.	INVS-92	0			c.C165T						.						126.0	110.0	115.0					9																	102888723		2203	4300	6503	SO:0001819	synonymous_variant	27130	exon3			GTATTGCGTGTTG	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.165C>T	9.37:g.102888723C>T		162	0		236	6	NM_183245	0	0	0	0	0	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																			.		0.408	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
EPB41L4B	54566	bcgsc.ca	37	9	111956668	111956668	+	Silent	SNP	G	G	A	rs41278379	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:111956668G>A	ENST00000374566.3	-	21	2572	c.2055C>T	c.(2053-2055)gaC>gaT	p.D685D	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	685					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGGAGGTCGTCTTCATCAC	0.567													G|||	19	0.00379393	0.0053	0.0086	5008	,	,		15502	0.0		0.006	False		,,,				2504	0.0				p.D685D		.											.	EPB41L4B-92	0			c.C2055T						.	G		27,4089		0,27,2031	116.0	126.0	123.0		2055	-3.9	1.0	9	dbSNP_127	123	50,8324		0,50,4137	no	coding-synonymous	EPB41L4B	NM_019114.3		0,77,6168	AA,AG,GG		0.5971,0.656,0.6165		685/901	111956668	77,12413	2058	4187	6245	SO:0001819	synonymous_variant	54566	exon21			GAGGTCGTCTTCA	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2055C>T	9.37:g.111956668G>A		203	0		308	15	NM_019114	0	0	0	0	0	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																			G|0.994;A|0.006		0.567	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
EPB41L4B	54566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	112042162	112042162	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:112042162A>G	ENST00000374566.3	-	2	863	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.Y116H	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	116	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAAGTGGTACACAATCTGA	0.418																																					p.Y116H		.											.	EPB41L4B-92	0			c.T346C						.						113.0	107.0	109.0					9																	112042162		1934	4146	6080	SO:0001583	missense	54566	exon2			AGTGGTACACAAT	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.346T>C	9.37:g.112042162A>G	ENSP00000363694:p.Tyr116His	94	0		134	32	NM_019114	0	0	1	2	1	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469951	0.84533	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	T;T	0.75589	-0.95;-0.95	5.17	5.17	0.71159	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.34362	N	0.004026	T	0.79405	0.4440	L	0.53249	1.67	0.80722	D	1	B;P	0.46859	0.092;0.885	B;P	0.54270	0.064;0.747	T	0.80327	-0.1429	10	0.51188	T	0.08	.	14.2999	0.66339	1.0:0.0:0.0:0.0	.	116;116	Q9H329-2;Q9H329	.;E41LB_HUMAN	H	116;116;38	ENSP00000363694:Y116H;ENSP00000363685:Y116H	ENSP00000311274:Y38H	Y	-	1	0	EPB41L4B	111081983	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.474000	0.90413	2.071000	0.62044	0.454000	0.30748	TAC	.		0.418	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
C9orf43	257169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	116176059	116176059	+	Missense_Mutation	SNP	G	G	A	rs369075240		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:116176059G>A	ENST00000288462.4	+	3	618	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	C9orf43_ENST00000374165.1_Missense_Mutation_p.V58M|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	58										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTGCTCACCGTGGTAGACAT	0.428																																					p.V58M		.											.	C9orf43-90	0			c.G172A						.	G	MET/VAL	0,4406		0,0,2203	104.0	96.0	98.0		172	-4.2	0.0	9		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	58/462	116176059	1,13005	2203	4300	6503	SO:0001583	missense	257169	exon3			CTCACCGTGGTAG	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.172G>A	9.37:g.116176059G>A	ENSP00000288462:p.Val58Met	119	0		164	155	NM_152786	0	0	0	0	0		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096418	0.36952	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.55930	0.49;0.49	5.65	-4.22	0.03800	.	1.122620	0.06784	N	0.785859	T	0.45438	0.1342	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.52309	0.695	T	0.51505	-0.8697	10	0.72032	D	0.01	-0.0777	8.8007	0.34907	0.3587:0.1273:0.5139:0.0	.	58	Q8TAL5	CI043_HUMAN	M	58	ENSP00000363280:V58M;ENSP00000288462:V58M	ENSP00000288462:V58M	V	+	1	0	C9orf43	115215880	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.352000	0.07701	-0.663000	0.05331	-0.471000	0.05019	GTG	.		0.428	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
RGS3	5998	hgsc.bcm.edu;broad.mit.edu	37	9	116269824	116269824	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:116269824G>A	ENST00000374140.2	+	14	1552	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	RGS3_ENST00000350696.5_Missense_Mutation_p.R448H|RGS3_ENST00000374136.1_Missense_Mutation_p.R74H|RGS3_ENST00000394646.3_Missense_Mutation_p.R167H|RGS3_ENST00000343817.5_Missense_Mutation_p.R167H|RGS3_ENST00000317613.6_Missense_Mutation_p.R336H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	448					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGGCCAAGCGCGGGGGCCAG	0.687																																					p.R448H		.											.	RGS3-227	0			c.G1343A						.						20.0	19.0	20.0					9																	116269824		2199	4294	6493	SO:0001583	missense	5998	exon14			CCAAGCGCGGGGG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1343G>A	9.37:g.116269824G>A	ENSP00000363255:p.Arg448His	8	0		170	25	NM_144488	0	0	2	2	0	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153677	0.38021	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.65732	0.79;0.79;1.14;0.29;-0.17	4.28	-0.725	0.11174	.	0.479493	0.24725	N	0.036108	T	0.40094	0.1103	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.28605	0.0;0.007;0.004;0.086;0.002;0.217	B;B;B;B;B;B	0.17098	0.001;0.004;0.002;0.015;0.004;0.017	T	0.11717	-1.0576	10	0.72032	D	0.01	.	7.4976	0.27498	0.4817:0.0:0.5183:0.0	.	167;74;167;338;336;448	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	H	448;448;336;167;167;74	ENSP00000363255:R448H;ENSP00000259406:R448H;ENSP00000312844:R336H;ENSP00000340284:R167H;ENSP00000378141:R167H	ENSP00000312844:R336H	R	+	2	0	RGS3	115309645	0.007000	0.16637	0.053000	0.19242	0.934000	0.57294	-0.108000	0.10857	-0.128000	0.11641	0.655000	0.94253	CGC	.		0.687	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
DFNB31	25861	hgsc.bcm.edu	37	9	117166245	117166245	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:117166245C>T	ENST00000362057.3	-	10	2517	c.2349G>A	c.(2347-2349)gtG>gtA	p.V783V	DFNB31_ENST00000265134.6_Silent_p.V400V|DFNB31_ENST00000374059.3_Silent_p.V432V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	783			V -> A (in dbSNP:rs2274159). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGGTGGACACCGACTGCC	0.647																																					p.V783V		.											.	DFNB31-95	0			c.G2349A						.						107.0	91.0	96.0					9																	117166245		2203	4300	6503	SO:0001819	synonymous_variant	25861	exon10			GGTGGACACCGAC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2349G>A	9.37:g.117166245C>T		31	0		79	4	NM_015404	0	0	0	0	0	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																			.		0.647	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
TNC	3371	bcgsc.ca	37	9	117848659	117848659	+	Missense_Mutation	SNP	C	C	T	rs369887990		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:117848659C>T	ENST00000350763.4	-	3	1762	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	TNC_ENST00000341037.4_Missense_Mutation_p.E451K|TNC_ENST00000340094.3_Missense_Mutation_p.E451K|TNC_ENST00000542877.1_Missense_Mutation_p.E451K|TNC_ENST00000537320.1_Missense_Mutation_p.E451K|TNC_ENST00000346706.3_Missense_Mutation_p.E451K|TNC_ENST00000345230.3_Missense_Mutation_p.E451K|TNC_ENST00000423613.2_Missense_Mutation_p.E451K|TNC_ENST00000535648.1_Missense_Mutation_p.E451K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	451	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTTGCCCTCGACACAGCGG	0.567																																					p.E451K		.											.	TNC-517	0			c.G1351A						.	C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	128.0	118.0	122.0		1351	-3.0	0.0	9		122	0,8600		0,0,4300	no	missense	TNC	NM_002160.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	451/2202	117848659	2,13004	2203	4300	6503	SO:0001583	missense	3371	exon3			TGCCCTCGACACA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1351G>A	9.37:g.117848659C>T	ENSP00000265131:p.Glu451Lys	156	3		236	45	NM_002160	0	0	0	0	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801475	0.16397	4.54E-4	0.0	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93	5.82	-3.03	0.05429	Epidermal growth factor-like (1);	0.686652	0.15622	N	0.252813	T	0.02807	0.0084	N	0.21583	0.68	0.09310	N	1	B;B	0.19935	0.04;0.001	B;B	0.11329	0.006;0.001	T	0.36696	-0.9737	10	0.39692	T	0.17	.	12.9949	0.58640	0.0:0.5337:0.162:0.3044	.	451;451	E9PC84;P24821	.;TENA_HUMAN	K	451	ENSP00000344400:E451K;ENSP00000438152:E451K;ENSP00000344555:E451K;ENSP00000345861:E451K;ENSP00000265131:E451K;ENSP00000339553:E451K;ENSP00000411406:E451K;ENSP00000443478:E451K;ENSP00000442242:E451K	ENSP00000344400:E451K	E	-	1	0	TNC	116888480	0.001000	0.12720	0.010000	0.14722	0.125000	0.20455	0.018000	0.13422	-0.514000	0.06488	-0.384000	0.06662	GAG	.		0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
RABGAP1	23637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125861009	125861009	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:125861009C>T	ENST00000373647.4	+	23	2883	c.2749C>T	c.(2749-2751)Cgt>Tgt	p.R917C	RABGAP1_ENST00000373643.5_Missense_Mutation_p.R256C	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	917					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAAATGTGCCGTCGGGAACT	0.423																																					p.R917C		.											.	RABGAP1-500	0			c.C2749T						.						90.0	93.0	92.0					9																	125861009		2203	4300	6503	SO:0001583	missense	23637	exon23			ATGTGCCGTCGGG	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2749C>T	9.37:g.125861009C>T	ENSP00000362751:p.Arg917Cys	70	0		97	30	NM_012197	0	0	18	21	3	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311174	0.81358	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.14893	3.18;2.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40117	-0.9580	10	0.72032	D	0.01	-17.5318	18.9705	0.92713	0.0:1.0:0.0:0.0	.	917	Q9Y3P9	RBGP1_HUMAN	C	917;256	ENSP00000362751:R917C;ENSP00000362747:R256C	ENSP00000362747:R256C	R	+	1	0	RABGAP1	124900830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.297000	0.51810	2.715000	0.92844	0.655000	0.94253	CGT	.		0.423	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
CRB2	286204	hgsc.bcm.edu	37	9	126135831	126135831	+	Silent	SNP	T	T	C	rs7848449	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:126135831T>C	ENST00000373631.3	+	10	3022	c.3021T>C	c.(3019-3021)gcT>gcC	p.A1007A	CRB2_ENST00000359999.3_Silent_p.A1007A|CRB2_ENST00000373629.2_Silent_p.A675A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1007	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCCTGCTGGCTGAGAACTTCA	0.766													C|||	691	0.137979	0.2436	0.1383	5008	,	,		8285	0.0556		0.0944	False		,,,				2504	0.1247				p.A1007A		.											.	CRB2-91	0			c.T3021C						.	C		511,2581		46,419,1081	6.0	6.0	6.0		3021	-6.8	0.9	9	dbSNP_116	6	457,5659		17,423,2618	no	coding-synonymous	CRB2	NM_173689.5		63,842,3699	CC,CT,TT		7.4722,16.5265,10.5126		1007/1286	126135831	968,8240	1546	3058	4604	SO:0001819	synonymous_variant	286204	exon10			GCTGGCTGAGAAC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3021T>C	9.37:g.126135831T>C		0	0		7	6	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			T|0.886;C|0.114		0.766	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	
FAM129B	64855	hgsc.bcm.edu	37	9	130269566	130269571	+	In_Frame_Del	DEL	CCGCCC	CCGCCC	-	rs532028077	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CCGCCC	CCGCCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130269566_130269571delCCGCCC	ENST00000373312.3	-	14	2007_2012	c.1794_1799delGGGCGG	c.(1792-1800)gggggcggc>ggc	p.598_600GGG>G	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_In_Frame_Del_p.585_587GGG>G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	598					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTGGGGCTGCCGCCCCCGCCGCTGT	0.694														17	0.00339457	0.0121	0.0014	5008	,	,		15077	0.0		0.0	False		,,,				2504	0.0				p.598_600del		.											.	FAM129B-68	0			c.1794_1799del						.		,	31,4115		6,19,2048					,	-8.3	0.0			16	29,8021		13,3,4009	no	coding,coding	FAM129B	NM_022833.2,NM_001035534.1	,	19,22,6057	A1A1,A1R,RR		0.3602,0.7477,0.492	,	,		60,12136				SO:0001651	inframe_deletion	64855	exon14			GGGCTGCCGCCCC	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1794_1799delGGGCGG	9.37:g.130269566_130269571delCCGCCC	ENSP00000362409:p.Gly598_Gly599del	2	0		123	101	NM_022833	0	0	0	0	0	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	In_Frame_Del	DEL	ENST00000373312.3	37	CCDS35145.1																																																																																			.		0.694	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
FAM129B	64855	bcgsc.ca	37	9	130289573	130289573	+	Missense_Mutation	SNP	G	G	C	rs368490986		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130289573G>C	ENST00000373312.3	-	3	428	c.215C>G	c.(214-216)tCg>tGg	p.S72W	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.S59W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	72	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGTTCCCCGAGAAGACGAT	0.632																																					p.S72W		.											.	FAM129B-68	0			c.C215G						.						71.0	64.0	67.0					9																	130289573		2203	4300	6503	SO:0001583	missense	64855	exon3			TTCCCCGAGAAGA	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.215C>G	9.37:g.130289573G>C	ENSP00000362409:p.Ser72Trp	83	0		147	5	NM_022833	0	0	7	7	0	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.296190	0.81025	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.19806	2.12;2.12	5.43	5.43	0.79202	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	T	0.25676	-1.0125	10	0.52906	T	0.07	-19.0697	16.7387	0.85454	0.0:0.0:1.0:0.0	.	59;72	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	59;72	ENSP00000362411:S59W;ENSP00000362409:S72W	ENSP00000362409:S72W	S	-	2	0	FAM129B	129329394	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	8.999000	0.93557	2.552000	0.86080	0.556000	0.70494	TCG	.		0.632	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
DNM1	1759	bcgsc.ca	37	9	130984508	130984508	+	Silent	SNP	G	G	A	rs559572430	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130984508G>A	ENST00000372923.3	+	7	974	c.882G>A	c.(880-882)ccG>ccA	p.P294P	DNM1_ENST00000486160.1_Silent_p.P294P|DNM1_ENST00000475805.1_Silent_p.P294P|DNM1_ENST00000341179.7_Silent_p.P294P|DNM1_ENST00000393594.3_Silent_p.P294P	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	294	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACACACTGCCGGGGCTGCGGA	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15850	0.0		0.0	False		,,,				2504	0.0				.	GBM(113;146 1575 2722 28670 29921)	.											.	DNM1-228	0			.						.						98.0	91.0	94.0					9																	130984508		2203	4300	6503	SO:0001819	synonymous_variant	1759	.			ACTGCCGGGGCTG	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.882G>A	9.37:g.130984508G>A		245	3		382	25	.	0	0	2	2	0	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																			.		0.582	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
FIBCD1	84929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	133799257	133799257	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:133799257G>A	ENST00000372338.4	-	4	965	c.723C>T	c.(721-723)ccC>ccT	p.P241P	FIBCD1_ENST00000448616.1_Silent_p.P241P|FIBCD1_ENST00000253018.4_Silent_p.P83P|FIBCD1_ENST00000372337.2_Silent_p.P83P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	241	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GACAGTCTCGGGGCCGGGAGC	0.632																																					p.P241P		.											.	FIBCD1-90	0			c.C723T						.						62.0	57.0	59.0					9																	133799257		2202	4299	6501	SO:0001819	synonymous_variant	84929	exon5			GTCTCGGGGCCGG	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.723C>T	9.37:g.133799257G>A		34	0		331	308	NM_001145106	0	0	0	0	0	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	6.254	0.414965	0.11870	.	.	ENSG00000130720	ENST00000444139	T	0.77229	-1.08	5.54	-6.44	0.01920	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47249	-0.9132	7	0.06891	T	0.86	.	4.7757	0.13178	0.1181:0.3409:0.401:0.14	.	.	.	.	L	195	ENSP00000395319:P195L	ENSP00000395319:P195L	P	-	2	0	FIBCD1	132789078	0.281000	0.24258	0.122000	0.21767	0.548000	0.35241	-0.524000	0.06222	-1.330000	0.02255	0.462000	0.41574	CCC	.		0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843	
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055				p.542_542del		.											.	SNAPC4-90	2	Deletion - In frame(2)	prostate(1)|central_nervous_system(1)	c.1624_1626del						.																																			SO:0001651	inframe_deletion	6621	exon15			CTCCTCGCTGCTG	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del	7	0		130	8	NM_003086	0	0	0	0	0		In_Frame_Del	DEL	ENST00000298532.2	37	CCDS6998.1																																																																																			.		0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
SDCCAG3	10807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139299638	139299638	+	Missense_Mutation	SNP	G	G	A	rs200655256		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139299638G>A	ENST00000357365.3	-	7	1039	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R231W|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.R281W|SDCCAG3_ENST00000461693.1_5'UTR	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	304			R -> Q (in dbSNP:rs3812577). {ECO:0000269|Ref.1}.			cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCTAACTTCCGCTCAAGCGTC	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19200	0.0		0.0	False		,,,				2504	0.0				p.R304W		.											.	SDCCAG3-90	0			c.C910T						.						114.0	107.0	109.0					9																	139299638		1890	4114	6004	SO:0001583	missense	10807	exon7			ACTTCCGCTCAAG	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.910C>T	9.37:g.139299638G>A	ENSP00000349929:p.Arg304Trp	80	0		118	112	NM_001039707	0	0	0	25	25	A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	CCDS43904.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.46	2.841600	0.51057	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725	T;T;T	0.79352	-1.26;-1.26;-1.26	4.53	3.55	0.40652	.	0.192442	0.43919	D	0.000513	D	0.85013	0.5600	M	0.71581	2.175	0.41019	D	0.985069	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.986;0.993;0.993	D	0.86178	0.1604	10	0.87932	D	0	-15.0759	10.1412	0.42736	0.0:0.0:0.6314:0.3686	.	231;281;304	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	W	304;281;231	ENSP00000349929:R304W;ENSP00000298537:R281W;ENSP00000360790:R231W	ENSP00000298537:R281W	R	-	1	2	SDCCAG3	138419459	1.000000	0.71417	0.999000	0.59377	0.296000	0.27459	2.843000	0.48238	2.218000	0.71995	0.563000	0.77884	CGG	G|0.999;A|0.000		0.458	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643	
NOTCH1	4851	hgsc.bcm.edu	37	9	139400219	139400219	+	Missense_Mutation	SNP	G	G	A	rs61751542	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139400219G>A	ENST00000277541.6	-	25	4204	c.4129C>T	c.(4129-4131)Ccc>Tcc	p.P1377S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1377	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGTGAAGGGGCCCAGGCAC	0.701			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	32	0.00638978	0.0023	0.013	5008	,	,		12596	0.0		0.0199	False		,,,				2504	0.0				p.P1377S		.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	NOTCH1-5459	0			c.C4129T						.	G	SER/PRO	11,3633		0,11,1811	10.0	13.0	12.0		4129	-2.5	0.1	9	dbSNP_129	12	186,7758		1,184,3787	no	missense	NOTCH1	NM_017617.3	74	1,195,5598	AA,AG,GG		2.3414,0.3019,1.7	benign	1377/2556	139400219	197,11391	1822	3972	5794	SO:0001583	missense	4851	exon25			TGAAGGGGCCCAG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4129C>T	9.37:g.139400219G>A	ENSP00000277541:p.Pro1377Ser	2	0		10	9	NM_017617	0	0	0	2	2	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	19	0.0086996336996337	2	0.0040650406504065045	5	0.013812154696132596	0	0.0	12	0.0158311345646438	G	0.224	-1.026363	0.02045	0.003019	0.023414	ENSG00000148400	ENST00000277541	D	0.96104	-3.91	4.73	-2.49	0.06403	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.409618	0.22755	N	0.056033	T	0.79724	0.4495	N	0.10837	0.055	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.71094	-0.4692	10	0.52906	T	0.07	.	12.2794	0.54755	0.1533:0.663:0.1836:0.0	rs61751542	1377	P46531	NOTC1_HUMAN	S	1377	ENSP00000277541:P1377S	ENSP00000277541:P1377S	P	-	1	0	NOTCH1	138520040	0.001000	0.12720	0.051000	0.19133	0.189000	0.23516	-0.105000	0.10907	-0.995000	0.03459	-0.189000	0.12847	CCC	G|0.990;A|0.010		0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
LCN10	414332	broad.mit.edu	37	9	139634004	139634004	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139634004C>T	ENST00000474369.1	-	5	536	c.537G>A	c.(535-537)gcG>gcA	p.A179A	LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Splice_Site_p.A156A|LCN10_ENST00000497771.1_Splice_Site_p.A192A			Q6JVE6	LCN10_HUMAN	lipocalin 10	179					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTGTACGGGACGCTGTGGGAG	0.617																																					p.A192A		.											.	LCN10-67	0			c.G576A						.						92.0	77.0	82.0					9																	139634004		2198	4292	6490	SO:0001630	splice_region_variant	414332	exon6			ACGGGACGCTGTG	AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"""Lipocalins"""	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.536-1G>A	9.37:g.139634004C>T		139	1		314	7	NM_001001712	0	0	0	0	0	A2RUU3|B0QZ79	Silent	SNP	ENST00000474369.1	37	CCDS35182.2																																																																																			.		0.617	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712	Silent
RABL6	55684	hgsc.bcm.edu;broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																					p.654_655del		.											.	.	0			c.1961_1963del						.		,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684	exon14			CTAAGGAGAAGAA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del	134	0		254	20	NM_001173988	0	0	0	0	0	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	CCDS48058.1																																																																																			.		0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
PHPT1	29085	hgsc.bcm.edu;bcgsc.ca	37	9	139748110	139748110	+	IGR	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139748110G>A	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.A148T|MAMDC4_ENST00000317446.2_Missense_Mutation_p.A148T|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGTACCACGCGGCCTCTGG	0.701																																					p.A148T		.											.	MAMDC4-156	0			c.G442A						.						22.0	23.0	23.0					9																	139748110		2195	4295	6490	SO:0001628	intergenic_variant	158056	exon4			TACCACGCGGCCT	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748110G>A		7	0		136	131	NM_206920	0	0	0	3	3	B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.152|6.152	0.396176|0.396176	0.11638|0.11638	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02121|.	4.44;4.44|.	4.52|4.52	-1.18|-1.18	0.09617|0.09617	.|.	1.902590|.	0.02805|.	N|.	0.123613|.	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|5	0.52906|.	T|.	0.07|.	-0.2222|-0.2222	4.9827|4.9827	0.14175|0.14175	0.5331:0.1613:0.3056:0.0|0.5331:0.1613:0.3056:0.0	.|.	148|.	Q6UXC1-2|.	.|.	T|H	148|129	ENSP00000319388:A148T;ENSP00000411339:A148T|.	ENSP00000319388:A148T|.	A|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138867931|138867931	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.067000|0.067000	0.16453|0.16453	0.060000|0.060000	0.14342|0.14342	-0.179000|-0.179000	0.10654|0.10654	-0.424000|-0.424000	0.05967|0.05967	GCG|CGC	.		0.701	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172	
PNPLA7	375775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140373513	140373513	+	Missense_Mutation	SNP	T	T	C	rs534417123		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:140373513T>C	ENST00000277531.4	-	23	2869	c.2683A>G	c.(2683-2685)Aag>Gag	p.K895E	PNPLA7_ENST00000406427.1_Missense_Mutation_p.K920E|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.K501E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	895				SLPKL -> RLLPQ (in Ref. 1; BAC56931). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCACCAGCTTGGGCAGGCTC	0.652													T|||	1	0.000199681	0.0	0.0	5008	,	,		17167	0.0		0.0	False		,,,				2504	0.001				p.K920E		.											.	PNPLA7-91	0			c.A2758G						.						15.0	17.0	16.0					9																	140373513		2190	4285	6475	SO:0001583	missense	375775	exon24			CCAGCTTGGGCAG	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2683A>G	9.37:g.140373513T>C	ENSP00000277531:p.Lys895Glu	47	0		308	49	NM_001098537	0	0	0	0	0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	9.885	1.202568	0.22121	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.94	1.16	0.20824	.	0.165698	0.52532	D	0.000061	T	0.35008	0.0917	M	0.62723	1.935	0.58432	D	0.99999	P;D;B;B	0.61697	0.506;0.99;0.159;0.065	B;P;B;B	0.56216	0.292;0.794;0.142;0.027	T	0.04509	-1.0946	10	0.54805	T	0.06	-21.0475	7.3882	0.26895	0.0:0.0722:0.2703:0.6574	.	303;920;895;161	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	E	501;303;895;920;895;886	ENSP00000360512:K501E;ENSP00000360501:K303E;ENSP00000277531:K895E;ENSP00000384610:K920E;ENSP00000400582:K886E	ENSP00000277531:K895E	K	-	1	0	PNPLA7	139493334	1.000000	0.71417	0.996000	0.52242	0.278000	0.26855	3.297000	0.51810	-0.041000	0.13558	-2.463000	0.00205	AAG	.		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
ASMTL	8623	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	1522202	1522202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:1522202delC	ENST00000381317.3	-	13	1858	c.1826delG	c.(1825-1827)ggtfs	p.G609fs	ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL_ENST00000381333.4_Frame_Shift_Del_p.G593fs|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL_ENST00000534940.1_Frame_Shift_Del_p.G551fs|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000416733.2_Frame_Shift_Del_p.G533fs|ASMTL-AS1_ENST00000420411.2_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	609	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCAGGACACCCCCCAAGTG	0.627																																					p.G609fs		.											.	ASMTL-62	0			c.1826delG						.						69.0	79.0	76.0					X																	1522202		2038	4167	6205	SO:0001589	frameshift_variant	8623	exon13			AGGACACCCCCCA	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1826delG	X.37:g.1522202delC	ENSP00000370718:p.Gly609fs	176	0		292	125	NM_004192	0	0	0	0	0	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Frame_Shift_Del	DEL	ENST00000381317.3	37	CCDS43917.1																																																																																			.		0.627	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192	
DHRSX	207063	bcgsc.ca	37	X	2184933	2184933	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:2184933G>A	ENST00000334651.5	-	5	496	c.444C>T	c.(442-444)ttC>ttT	p.F148F	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	148							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTTCAGGCCGAAATGTTCTT	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		20650	0.001		0.0	False		,,,				2504	0.0				p.F148F		.											.	.	0			c.C444T						.			0,4406		0,0,2203	403.0	356.0	372.0		444	-0.2	0.9	X		372	1,8591		0,1,4295	no	coding-synonymous	DHRSX	NM_145177.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		148/331	2184933	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	207063	exon5			CAGGCCGAAATGT	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.444C>T	X.37:g.2184933G>A		993	5		1480	658	NM_145177	0	0	20	34	14	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	CCDS35195.1																																																																																			G|0.999;A|0.001		0.527	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177	
ARSD	414	broad.mit.edu	37	X	2825437	2825437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:2825437G>A	ENST00000381154.1	-	10	1732	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	553					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCAGGGTCTGCCGATGCTCC	0.647																																					p.Q553X		.											.	ARSD-130	0			c.C1657T						.						38.0	34.0	35.0					X																	2825437		2203	4300	6503	SO:0001587	stop_gained	414	exon10			GGGTCTGCCGATG	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1657C>T	X.37:g.2825437G>A	ENSP00000370546:p.Gln553*	119	1		224	9	NM_001669	0	0	1	1	0	Q9UHJ8	Nonsense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579725	0.65992	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.03	-4.89	0.03103	.	1.802540	0.03432	U	0.207934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	6.5517	0.22438	0.0:0.1145:0.3055:0.58	.	.	.	.	X	553	.	ENSP00000370546:Q553X	Q	-	1	0	ARSD	2835437	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.962000	0.03841	-1.235000	0.02545	-0.362000	0.07510	CAG	.		0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
TBL1X	6907	ucsc.edu;bcgsc.ca	37	X	9673126	9673126	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:9673126G>A	ENST00000217964.7	+	13	1848	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	TBL1X_ENST00000536365.1_Missense_Mutation_p.R352H|TBL1X_ENST00000424279.1_Missense_Mutation_p.R352H|TBL1X_ENST00000407597.2_Missense_Mutation_p.R403H|TBL1X_ENST00000380961.1_Missense_Mutation_p.R352H	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	403					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GGCTGTGACCGCCCAGTCAAA	0.537																																					p.R403H		.											.	TBL1X-131	0			c.G1208A						.						157.0	94.0	116.0					X																	9673126		2203	4300	6503	SO:0001583	missense	6907	exon13			GTGACCGCCCAGT	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1208G>A	X.37:g.9673126G>A	ENSP00000217964:p.Arg403His	306	4		426	388	NM_001139466	0	0	0	2	2	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397616	0.62177	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.85	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.48767	U	0.000168	T	0.75317	0.3833	L	0.39147	1.195	0.80722	D	1	B;B	0.19583	0.031;0.037	B;B	0.24848	0.035;0.056	T	0.74674	-0.3586	10	0.59425	D	0.04	.	15.7298	0.77792	0.0:0.0:1.0:0.0	.	366;403	Q59F53;O60907	.;TBL1X_HUMAN	H	403;352;352;352;403	ENSP00000385988:R403H;ENSP00000394097:R352H;ENSP00000445317:R352H;ENSP00000370348:R352H;ENSP00000217964:R403H	ENSP00000217964:R403H	R	+	2	0	TBL1X	9633126	1.000000	0.71417	0.982000	0.44146	0.926000	0.56050	7.414000	0.80117	1.694000	0.51137	0.529000	0.55759	CGC	.		0.537	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647	
USP9X	8239	hgsc.bcm.edu;broad.mit.edu	37	X	40982957	40982957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:40982957delC	ENST00000324545.8	+	2	709	c.76delC	c.(76-78)cccfs	p.P27fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.P27fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	27					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACAGTCTCAGCCCCCCCTCCA	0.542																																					p.P26fs	Ovarian(172;1807 2695 35459 49286)	.											.	USP9X-563	0			c.76delC						.						58.0	56.0	57.0					X																	40982957		2026	4198	6224	SO:0001589	frameshift_variant	8239	exon2			TCTCAGCCCCCCC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.76delC	X.37:g.40982957delC	ENSP00000316357:p.Pro27fs	184	0		242	13	NM_001039591	0	0	0	0	0	O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	CCDS43930.1																																																																																			.		0.542	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
CCDC120	90060	hgsc.bcm.edu	37	X	48921959	48921959	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:48921959C>T	ENST00000376396.3	+	6	602	c.383C>T	c.(382-384)gCc>gTc	p.A128V	CCDC120_ENST00000496529.2_Missense_Mutation_p.A128V|CCDC120_ENST00000536628.2_Missense_Mutation_p.A116V|CCDC120_ENST00000597275.1_Missense_Mutation_p.A128V|CCDC120_ENST00000422185.2_Missense_Mutation_p.A128V|CCDC120_ENST00000603986.1_Missense_Mutation_p.A163V	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	128										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ATCGCGGCGGCCGCCCGCCGC	0.672																																					p.A163V		.											.	CCDC120-131	0			c.C488T						.						4.0	5.0	5.0					X																	48921959		2084	4002	6086	SO:0001583	missense	90060	exon6			CGGCGGCCGCCCG	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.383C>T	X.37:g.48921959C>T	ENSP00000365577:p.Ala128Val	2	0		21	18	NM_001163321	0	0	0	0	0	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021191	0.75275	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.81	4.81	0.61882	.	0.000000	0.52532	D	0.000075	T	0.76485	0.3994	M	0.66439	2.03	0.39690	D	0.971024	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.989;0.994;0.994;0.989	T	0.80674	-0.1277	9	0.87932	D	0	-6.119	13.9885	0.64350	0.0:1.0:0.0:0.0	.	116;163;116;128	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	V	128;128;116	.	ENSP00000365577:A128V	A	+	2	0	CCDC120	48808903	0.998000	0.40836	0.512000	0.27736	0.317000	0.28152	4.652000	0.61454	1.989000	0.58080	0.468000	0.43344	GCC	.		0.672	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626	
CCDC120	90060	hgsc.bcm.edu	37	X	48925015	48925015	+	Silent	SNP	C	C	T	rs374295188		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:48925015C>T	ENST00000376396.3	+	10	1479	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	CCDC120_ENST00000496529.2_Silent_p.A420A|CCDC120_ENST00000536628.2_Silent_p.A408A|CCDC120_ENST00000597275.1_Silent_p.A420A|CCDC120_ENST00000422185.2_Silent_p.A420A|CCDC120_ENST00000603986.1_Silent_p.A455A	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	420	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTCCCCGGGCCGCCCGGCCTA	0.697																																					p.A455A		.											.	CCDC120-131	0			c.C1365T						.	C	,,,	0,3768		0,0,0,1605,558	9.0	10.0	9.0		1260,1224,1224,1260	1.2	1.0	X		9	1,6611		0,0,1,2403,1805	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	,,,	0,0,1,4008,2363	TT,TC,T,CC,C		0.0151,0.0,0.0096	,,,	420/662,408/650,408/619,420/631	48925015	1,10379	2163	4209	6372	SO:0001819	synonymous_variant	90060	exon10			CCGGGCCGCCCGG	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1260C>T	X.37:g.48925015C>T		0	0		21	21	NM_001163321	0	0	0	3	3	B4DFC1|B4DTU2|F5GZU4	Silent	SNP	ENST00000376396.3	37	CCDS14316.1																																																																																			.		0.697	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626	
AKAP4	8852	bcgsc.ca	37	X	49955729	49955729	+	Silent	SNP	C	C	T	rs78668179	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:49955729C>T	ENST00000376056.2	-	6	2562	c.2412G>A	c.(2410-2412)gaG>gaA	p.E804E	AKAP4_ENST00000376064.3_Silent_p.E804E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.E430E|AKAP4_ENST00000358526.2_Silent_p.E813E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTACCCCTTCTCTGCTGCTT	0.502													C|||	125	0.0331126	0.0908	0.0072	3775	,	,		13318	0.0		0.0	False		,,,				2504	0.0				p.E813E		.											.	AKAP4-540	0			c.G2439A						.	C	,	419,3416		22,311,64,1299,507	177.0	152.0	160.0		2439,2412	2.0	1.0	X	dbSNP_131	160	2,6726		0,2,0,2426,1872	no	coding-synonymous,coding-synonymous	AKAP4	NM_003886.2,NM_139289.1	,	22,313,64,3725,2379	TT,TC,T,CC,C		0.0297,10.9257,3.9856	,	813/855,804/846	49955729	421,10142	2203	4300	6503	SO:0001819	synonymous_variant	8852	exon6			CCCCTTCTCTGCT	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2412G>A	X.37:g.49955729C>T		81	0		117	6	NM_003886	0	0	0	0	0		Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																			C|0.961;T|0.039		0.502	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
UBQLN2	29978	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:56591874delC	ENST00000338222.5	+	1	1849	c.1568delC	c.(1567-1569)gccfs	p.A523fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	12 X 3 AA tandem repeats of P-X-X.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P525fs*71(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCTGCAGCCCCCCCTGGC	0.642																																					p.A523fs	Esophageal Squamous(104;218 1492 6022 10838 28884)	.											.	UBQLN2-131	1	Deletion - Frameshift(1)	large_intestine(1)	c.1568delC						.						8.0	9.0	8.0					X																	56591874		2158	4239	6397	SO:0001589	frameshift_variant	29978	exon1			CTGCAGCCCCCCC	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1568delC	X.37:g.56591874delC	ENSP00000345195:p.Ala523fs	21	0		57	48	NM_013444	0	0	0	0	0	O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Del	DEL	ENST00000338222.5	37	CCDS14374.1																																																																																			.		0.642	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
STARD8	9754	broad.mit.edu	37	X	67941902	67941902	+	Missense_Mutation	SNP	C	C	T	rs61735034	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:67941902C>T	ENST00000252336.6	+	10	2605	c.2233C>T	c.(2233-2235)Cgc>Tgc	p.R745C	STARD8_ENST00000374597.3_Missense_Mutation_p.R745C|STARD8_ENST00000374599.3_Missense_Mutation_p.R825C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAAGAGCAAACGCAGCCTCAT	0.557													C|||	5	0.0013245	0.003	0.0014	3775	,	,		15402	0.0		0.0	False		,,,				2504	0.0				p.R825C		.											.	STARD8-196	0			c.C2473T						.	C	CYS/ARG,CYS/ARG,CYS/ARG	22,3813		0,17,5,1615,566	51.0	44.0	47.0		2473,2233,2233	2.3	0.8	X	dbSNP_129	47	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	180,180,180	0,17,5,4043,2438	TT,TC,T,CC,C		0.0,0.5737,0.2083	probably-damaging,probably-damaging,probably-damaging	825/1104,745/1024,745/1024	67941902	22,10541	2203	4300	6503	SO:0001583	missense	9754	exon11			AGCAAACGCAGCC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2233C>T	X.37:g.67941902C>T	ENSP00000252336:p.Arg745Cys	87	2		169	7	NM_001142503	0	0	0	0	0	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.32	1.604403	0.28623	0.005737	0.0	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08634	3.07;3.07;3.07	4.07	2.29	0.28610	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.141449	0.42548	N	0.000694	T	0.11580	0.0282	L	0.50333	1.59	0.54753	D	0.999983	D;D	0.89917	1.0;0.999	D;D	0.71414	0.972;0.973	T	0.02661	-1.1127	10	0.87932	D	0	.	3.2582	0.06839	0.2058:0.561:0.0:0.2332	rs61735034	825;745	Q92502-2;Q92502	.;STAR8_HUMAN	C	745;825;745	ENSP00000252336:R745C;ENSP00000363727:R825C;ENSP00000363725:R745C	ENSP00000252336:R745C	R	+	1	0	STARD8	67858627	0.208000	0.23494	0.847000	0.33407	0.061000	0.15899	0.913000	0.28611	0.333000	0.23563	0.513000	0.50165	CGC	C|0.998;T|0.002		0.557	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	69902635	69902635	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:69902635G>A	ENST00000395889.2	-	15	1245	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TEX11_ENST00000374333.2_Missense_Mutation_p.R349C|TEX11_ENST00000344304.3_Missense_Mutation_p.R364C|TEX11_ENST00000374320.2_Missense_Mutation_p.R39C	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	364					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GACTTAAAACGTTCATGAATA	0.358																																					p.R364C		.											.	TEX11-178	0			c.C1090T						.						70.0	59.0	62.0					X																	69902635		2203	4300	6503	SO:0001583	missense	56159	exon15			TAAAACGTTCATG	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1090C>T	X.37:g.69902635G>A	ENSP00000379226:p.Arg364Cys	88	0		111	46	NM_001003811	0	0	0	0	0	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022825	0.19433	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.50001	1.27;1.28;0.76;1.28	4.56	2.76	0.32466	.	0.393945	0.25848	N	0.027905	T	0.44008	0.1273	L	0.38175	1.15	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.54815	0.648;0.761	T	0.22871	-1.0204	9	.	.	.	-2.6515	4.8485	0.13524	0.1134:0.0:0.6774:0.2092	.	349;364	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	C	349;364;39;364	ENSP00000363453:R349C;ENSP00000379226:R364C;ENSP00000363440:R39C;ENSP00000340995:R364C	.	R	-	1	0	TEX11	69819360	0.402000	0.25311	0.166000	0.22797	0.005000	0.04900	1.561000	0.36342	0.368000	0.24481	0.415000	0.27848	CGT	.		0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
SLC7A3	84889	broad.mit.edu;bcgsc.ca	37	X	70148709	70148709	+	Missense_Mutation	SNP	C	C	T	rs368607994		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:70148709C>T	ENST00000374299.3	-	3	658	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V172M			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	172					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.V172L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAGCAACACGAGGCCCAAA	0.567																																					p.V172M		.											.	SLC7A3-132	1	Substitution - Missense(1)	lung(1)	c.G514A						.						67.0	62.0	64.0					X																	70148709		2203	4300	6503	SO:0001583	missense	84889	exon3			GCAACACGAGGCC	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.514G>A	X.37:g.70148709C>T	ENSP00000363417:p.Val172Met	74	0		131	6	NM_032803	0	0	0	0	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507506	0.64410	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90069	-2.61;-2.61	5.16	4.27	0.50696	Amino acid permease domain (1);	0.253078	0.41001	D	0.000975	D	0.92961	0.7760	M	0.86343	2.81	0.40129	D	0.976692	D	0.65815	0.995	P	0.58820	0.846	D	0.92880	0.6322	10	0.87932	D	0	.	7.83	0.29336	0.0:0.7777:0.0:0.2223	.	172	Q8WY07	CTR3_HUMAN	M	172	ENSP00000363417:V172M;ENSP00000298085:V172M	ENSP00000298085:V172M	V	-	1	0	SLC7A3	70065434	0.697000	0.27767	0.473000	0.27253	0.940000	0.58332	1.134000	0.31442	1.088000	0.41272	0.436000	0.28706	GTG	.		0.567	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
KIAA2022	340533	broad.mit.edu;bcgsc.ca	37	X	73960665	73960665	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:73960665G>A	ENST00000055682.6	-	3	4338	c.3727C>T	c.(3727-3729)Cgt>Tgt	p.R1243C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1243					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R1243C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCCCCACGGCCAATGCCA	0.493																																					p.R1243C		.											.	KIAA2022-183	1	Substitution - Missense(1)	lung(1)	c.C3727T						.						110.0	75.0	86.0					X																	73960665		2203	4300	6503	SO:0001583	missense	340533	exon3			CCCCACGGCCAAT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3727C>T	X.37:g.73960665G>A	ENSP00000055682:p.Arg1243Cys	176	0		239	11	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087867	0.08583	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33216	1.42;1.42	4.94	4.07	0.47477	.	0.499042	0.23369	N	0.048922	T	0.19927	0.0479	N	0.24115	0.695	0.34057	D	0.656847	B	0.10296	0.003	B	0.10450	0.005	T	0.13899	-1.0492	10	0.87932	D	0	-0.2586	7.3167	0.26505	0.0:0.1339:0.5084:0.3577	.	1243	Q5QGS0	K2022_HUMAN	C	1243	ENSP00000362567:R1243C;ENSP00000055682:R1243C	ENSP00000055682:R1243C	R	-	1	0	KIAA2022	73877390	0.023000	0.18921	0.445000	0.26908	0.590000	0.36582	0.728000	0.26013	1.055000	0.40461	-0.229000	0.12294	CGT	.		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
KIAA2022	340533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	73961524	73961524	+	Silent	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:73961524G>A	ENST00000055682.6	-	3	3479	c.2868C>T	c.(2866-2868)acC>acT	p.T956T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	956					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGGGAGTTGGGTATCTTGCA	0.438																																					p.T956T		.											.	KIAA2022-183	0			c.C2868T						.						173.0	149.0	157.0					X																	73961524		2203	4300	6503	SO:0001819	synonymous_variant	340533	exon3			GAGTTGGGTATCT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2868C>T	X.37:g.73961524G>A		92	0		137	13	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																			.		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
PRPS1	5631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	106890920	106890920	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:106890920C>T	ENST00000372435.4	+	6	911	c.789C>T	c.(787-789)aaC>aaT	p.N263N	PRPS1_ENST00000372428.4_Silent_p.N196N|PRPS1_ENST00000372418.1_Silent_p.N163N|PRPS1_ENST00000543248.1_Silent_p.N263N	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	263					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GCATCAACAACGCATGCTTTG	0.458																																					p.N263N		.											.	PRPS1-289	0			c.C789T						.						158.0	130.0	140.0					X																	106890920		2203	4300	6503	SO:0001819	synonymous_variant	5631	exon6			CAACAACGCATGC	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.789C>T	X.37:g.106890920C>T		167	0		216	103	NM_002764	0	0	14	30	16	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	CCDS14529.1																																																																																			.		0.458	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1		
HTR2C	3358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	114141204	114141204	+	Silent	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:114141204C>T	ENST00000276198.1	+	6	1331	c.603C>T	c.(601-603)ttC>ttT	p.F201F	HTR2C_ENST00000371951.1_Silent_p.F201F|HTR2C_ENST00000371950.3_Missense_Mutation_p.R170C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	201					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448																																					p.R170C		.											.	HTR2C-133	0			c.C508T						.						211.0	172.0	186.0					X																	114141204		2203	4300	6503	SO:0001819	synonymous_variant	3358	exon6			GGTGTTCGTGAAC		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.603C>T	X.37:g.114141204C>T		186	0		251	90	NM_001256761	0	0	0	0	0	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237011	0.39498	.	.	ENSG00000147246	ENST00000371950	T	0.57752	0.38	4.87	3.05	0.35203	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.29373	N	0.863855	B	0.09022	0.002	B	0.04013	0.001	T	0.40459	-0.9562	8	0.72032	D	0.01	.	6.8739	0.24135	0.0:0.6852:0.0:0.3148	.	170	B1AMW4	.	C	170	ENSP00000361018:R170C	ENSP00000361018:R170C	R	+	1	0	HTR2C	114047460	0.984000	0.35163	0.894000	0.35097	0.993000	0.82548	0.277000	0.18734	0.954000	0.37851	0.538000	0.68166	CGT	.		0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
AGTR2	186	hgsc.bcm.edu;bcgsc.ca	37	X	115303928	115303928	+	Frame_Shift_Del	DEL	T	T	-	rs387906503		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:115303928delT	ENST00000371906.4	+	3	585	c.395delT	c.(394-396)attfs	p.I132fs		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	132					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTTGCAAGCATTTTTTTTATC	0.393																																					p.I132fs		.											.	AGTR2-565	0			c.395delT						.			2,0,3717		0,0,2,0,0,0,1589,537	180.0	172.0	174.0			3.5	1.0	X		176	4,11,6467		0,0,4,0,4,7,2348,1763	no	codingComplex	AGTR2	NM_000686.4		0,0,6,0,4,7,3937,2300	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		0.2314,0.0538,0.1667			115303928	6,11,10184	2203	4300	6503	SO:0001589	frameshift_variant	186	exon3			CAAGCATTTTTTT	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.395delT	X.37:g.115303928delT	ENSP00000360973:p.Ile132fs	52	0		72	59	NM_000686	0	0	0	0	0	B2R9V1|Q13016|Q6FGY7	Frame_Shift_Del	DEL	ENST00000371906.4	37	CCDS14569.1																																																																																			.		0.393	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
NKAP	79576	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	119059239	119059239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:119059239delG	ENST00000371410.3	-	9	1358	c.1192delC	c.(1192-1194)ctgfs	p.L398fs	NKAP_ENST00000477789.1_5'UTR|RP3-327A19.5_ENST00000455986.1_RNA|AC002477.1_ENST00000581061.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	398	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAACTGGCCAGAATCTTGTTC	0.398																																					p.L398fs		.											.	NKAP-132	0			c.1192delC						.						173.0	160.0	164.0					X																	119059239		2203	4300	6503	SO:0001589	frameshift_variant	79576	exon9			TGGCCAGAATCTT	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1192delC	X.37:g.119059239delG	ENSP00000360464:p.Leu398fs	60	0		87	82	NM_024528	0	0	0	0	0	Q6IPW6|Q96BQ2|Q9H638	Frame_Shift_Del	DEL	ENST00000371410.3	37	CCDS14592.1																																																																																			.		0.398	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
ATP1B4	23439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	119512613	119512613	+	Silent	SNP	C	C	T	rs148650396		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:119512613C>T	ENST00000218008.3	+	7	954	c.897C>T	c.(895-897)taC>taT	p.Y299Y	ATP1B4_ENST00000361319.3_Silent_p.Y295Y|ATP1B4_ENST00000539306.1_Silent_p.Y256Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	299					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACCCTTACTACGGCAAACTGA	0.458																																					p.Y299Y		.											.	ATP1B4-131	0			c.C897T						.	C	,	1,3834		0,1,1631,571	162.0	137.0	146.0		897,885	-5.9	0.9	X	dbSNP_134	146	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	ATP1B4	NM_001142447.2,NM_012069.4	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	299/358,295/354	119512613	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23439	exon7			TTACTACGGCAAA	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.897C>T	X.37:g.119512613C>T		59	0		95	11	NM_001142447	0	0	0	0	0	Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	CCDS48158.1																																																																																			C|1.000;T|0.000		0.458	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447	
BCORL1	63035	hgsc.bcm.edu;bcgsc.ca	37	X	129149050	129149050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:129149050delA	ENST00000218147.7	+	4	2499	c.2302delA	c.(2302-2304)aaafs	p.K769fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K769fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.K769fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K769fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	769					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGTGTGGCAAAAAGGGCAG	0.607																																					p.K768fs		.											.	BCORL1-294	0			c.2302delA						.						56.0	50.0	52.0					X																	129149050		2203	4300	6503	SO:0001589	frameshift_variant	63035	exon3			TGTGGCAAAAAGG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2302delA	X.37:g.129149050delA	ENSP00000218147:p.Lys769fs	105	1		149	133	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	CCDS14616.1																																																																																			.		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
MAP7D3	79649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135323411	135323411	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:135323411C>T	ENST00000316077.9	-	5	663	c.443G>A	c.(442-444)cGt>cAt	p.R148H	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R148H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R130H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	148					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTCCAAAGTACGATAAAGAAT	0.323																																					p.R148H		.											.	MAP7D3-110	0			c.G443A						.						52.0	46.0	48.0					X																	135323411		1822	4085	5907	SO:0001583	missense	79649	exon5			AAAGTACGATAAA	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.443G>A	X.37:g.135323411C>T	ENSP00000318086:p.Arg148His	72	0		105	41	NM_024597	0	0	0	0	0	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682065	0.68042	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.15	4.26	0.50523	.	.	.	.	.	T	0.34542	0.0901	M	0.72479	2.2	0.34391	D	0.694203	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.994;0.996	T	0.50575	-0.8812	9	0.72032	D	0.01	-12.8721	10.9291	0.47207	0.0:0.9019:0.0:0.0981	.	130;148;148;148	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	148;148;130;148	ENSP00000359695:R148H;ENSP00000318086:R148H;ENSP00000359697:R130H;ENSP00000359694:R148H	ENSP00000318086:R148H	R	-	2	0	MAP7D3	135151077	0.564000	0.26602	0.013000	0.15412	0.031000	0.12232	1.300000	0.33436	0.897000	0.36392	0.538000	0.68166	CGT	.		0.323	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
MAGEA12	4111	broad.mit.edu;bcgsc.ca	37	X	151900357	151900357	+	Silent	SNP	A	A	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:151900357A>G	ENST00000357916.4	-	2	599	c.444T>C	c.(442-444)ccT>ccC	p.P148P	MAGEA12_ENST00000393900.3_Silent_p.P148P|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000452779.2_5'Flank|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.P148P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	148	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P148P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCACAGGAAAGAAGT	0.512																																					p.P148P		.											.	MAGEA12-131	2	Substitution - coding silent(2)	lung(2)	c.T444C						.						148.0	141.0	144.0					X																	151900357		2203	4300	6503	SO:0001819	synonymous_variant	4111	exon2			GATCACAGGAAAG		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.444T>C	X.37:g.151900357A>G		353	0		512	14	NM_005367	0	0	0	0	0	Q9NSD3	Silent	SNP	ENST00000357916.4	37	CCDS14710.1																																																																																			.		0.512	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
MAGEA12	4111	broad.mit.edu;bcgsc.ca	37	X	151900373	151900373	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:151900373A>C	ENST00000357916.4	-	2	583	c.428T>G	c.(427-429)tTc>tGc	p.F143C	MAGEA12_ENST00000393900.3_Missense_Mutation_p.F143C|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000452779.2_5'Flank|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.F143C	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	143	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTCCTGGAAATTTCTGAT	0.507													.|||	1	0.000264901	0.0008	0.0	3775	,	,		16417	0.0		0.0	False		,,,				2504	0.0				p.F143C		.											.	MAGEA12-131	0			c.T428G						.						145.0	138.0	140.0					X																	151900373		2203	4300	6503	SO:0001583	missense	4111	exon2			TCCTGGAAATTTC		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.428T>G	X.37:g.151900373A>C	ENSP00000350592:p.Phe143Cys	351	0		481	17	NM_005367	0	0	0	0	0	Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-2.976630	0.00047	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04809	3.55;3.55;3.55	0.8	-1.6	0.08426	.	0.582469	0.19584	N	0.110762	T	0.01835	0.0058	N	0.05158	-0.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40776	-0.9545	9	0.48119	T	0.1	.	.	.	.	.	143	P43365	MAGAC_HUMAN	C	143	ENSP00000350592:F143C;ENSP00000377447:F143C;ENSP00000377478:F143C	ENSP00000350592:F143C	F	-	2	0	MAGEA12	151651029	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.354000	0.07681	-1.733000	0.01357	-1.651000	0.00758	TTC	.		0.507	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152807870	152807870	+	Missense_Mutation	SNP	C	C	T	rs373144811		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:152807870C>T	ENST00000349466.2	+	5	1080	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ATP2B3_ENST00000370186.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	252					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657																																					p.R252C		.											.	ATP2B3-109	0			c.C754T						.	C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	93.0	64.0	74.0		754,754	5.4	1.0	X		74	1,6727		0,1,2427,1872	no	missense,missense	ATP2B3	NM_001001344.2,NM_021949.3	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	252/1221,252/1174	152807870	1,10562	2203	4300	6503	SO:0001583	missense	492	exon4			CACGTGCGCAAGT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.754C>T	X.37:g.152807870C>T	ENSP00000343886:p.Arg252Cys	38	0		208	84	NM_001001344	0	0	7	11	4	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755304	0.69648	0.0	1.49E-4	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.184234	0.47852	D	0.000210	D	0.88644	0.6492	L	0.57130	1.785	0.49582	D	0.999803	P;B	0.43314	0.803;0.432	B;B	0.37015	0.239;0.153	D	0.89963	0.4088	10	0.62326	D	0.03	-1.2872	16.9818	0.86329	0.0:1.0:0.0:0.0	.	252;252	Q16720;Q16720-2	AT2B3_HUMAN;.	C	252	ENSP00000359205:R252C;ENSP00000343886:R252C;ENSP00000377425:R252C;ENSP00000352062:R252C;ENSP00000263519:R252C;ENSP00000359200:R252C	ENSP00000263519:R252C	R	+	1	0	ATP2B3	152461064	0.001000	0.12720	1.000000	0.80357	0.661000	0.39034	0.570000	0.23653	2.273000	0.75805	0.513000	0.50165	CGC	.		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
PLXNB3	5365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	X	153042767	153042767	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153042767C>T	ENST00000361971.5	+	30	5146	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1701W|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R1331W	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1678					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCCTGCGGGAGCGCGA	0.672																																					p.R1701W		.											.	PLXNB3-130	0			c.C5101T						.						45.0	29.0	35.0					X																	153042767		2198	4294	6492	SO:0001583	missense	5365	exon31			AGCCTGCGGGAGC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5032C>T	X.37:g.153042767C>T	ENSP00000355378:p.Arg1678Trp	15	0		198	85	NM_001163257	0	0	54	97	43	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371953	0.42003	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.12879	2.64;2.64;2.64	5.1	3.26	0.37387	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.662708	0.12579	N	0.456604	T	0.34483	0.0899	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.996	T	0.01294	-1.1393	10	0.72032	D	0.01	.	12.3814	0.55309	0.3307:0.6693:0.0:0.0	.	1331;1701;1678	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	W	1701;1678;1331	ENSP00000442736:R1701W;ENSP00000355378:R1678W;ENSP00000445569:R1331W	ENSP00000355378:R1678W	R	+	1	2	PLXNB3	152695961	0.975000	0.34042	0.268000	0.24571	0.034000	0.12701	3.118000	0.50414	0.428000	0.26173	0.529000	0.55759	CGG	.		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PDZD4	57595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153073942	153073942	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153073942G>A	ENST00000164640.4	-	2	360	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	57						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					CTGTCCCCCCGGAGGCGGGGG	0.647																																					p.R57W		.											.	PDZD4-193	0			c.C169T						.						37.0	30.0	33.0					X																	153073942		2201	4295	6496	SO:0001583	missense	57595	exon2			CCCCCCGGAGGCG	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.169C>T	X.37:g.153073942G>A	ENSP00000164640:p.Arg57Trp	53	0		218	112	NM_032512	0	0	4	6	2	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712515	0.68730	.	.	ENSG00000067840	ENST00000164640	T	0.05580	3.42	5.52	4.66	0.58398	.	0.237532	0.26220	U	0.025632	T	0.12603	0.0306	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.54210	0.677;0.745	T	0.01105	-1.1450	10	0.87932	D	0	-29.7845	7.6334	0.28253	0.0865:0.0:0.7511:0.1624	.	57;57	Q17RL8;Q76G19	.;PDZD4_HUMAN	W	57	ENSP00000164640:R57W	ENSP00000164640:R57W	R	-	1	2	PDZD4	152727136	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	2.028000	0.41088	1.099000	0.41499	-0.197000	0.12766	CGG	.		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	
FLNA	2316	bcgsc.ca	37	X	153595114	153595114	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153595114C>T	ENST00000369850.3	-	6	1209	c.973G>A	c.(973-975)Gga>Aga	p.G325R	FLNA_ENST00000344736.4_Missense_Mutation_p.G325R|FLNA_ENST00000360319.4_Missense_Mutation_p.G325R|FLNA_ENST00000422373.1_Missense_Mutation_p.G325R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	325					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)			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)					TCCTGGTGTCCGGCCGGGTCC	0.642																																					p.G325R		.											.	FLNA-599	0			c.G973A						.						68.0	68.0	68.0					X																	153595114		2026	4152	6178	SO:0001583	missense	2316	exon6			GGTGTCCGGCCGG	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.973G>A	X.37:g.153595114C>T	ENSP00000358866:p.Gly325Arg	43	2		126	117	NM_001456	0	0	0	4	4	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039447	0.55003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88890	0.6560	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92213	0.5778	10	0.87932	D	0	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	325;325	P21333-2;P21333	.;FLNA_HUMAN	R	325;298;325;325;325	ENSP00000353467:G325R;ENSP00000416926:G325R;ENSP00000358866:G325R;ENSP00000358863:G325R	ENSP00000358863:G325R	G	-	1	0	FLNA	153248308	1.000000	0.71417	0.950000	0.38849	0.935000	0.57460	7.809000	0.86057	2.186000	0.69663	0.525000	0.51046	GGA	.		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
PRKAA2	5563	broad.mit.edu;bcgsc.ca	37	1	57173340	57173341	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:57173340_57173341insT	ENST00000371244.4	+	9	1679_1680	c.1613_1614insT	c.(1612-1617)gattttfs	p.DF538fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	538					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E541fs*1(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CACACCATGGATTTTTTTGAAA	0.421																																					p.D538fs		.											.	PRKAA2-885	2	Insertion - Frameshift(2)	large_intestine(2)	c.1613_1614insT						.																																			SO:0001589	frameshift_variant	5563	exon9			CCATGGATTTTTT	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1620dupT	1.37:g.57173347_57173347dupT	ENSP00000360290:p.Asp538fs	124	0		88	9	NM_006252	0	0	0	0	0	Q9H1E8|Q9UD43	Frame_Shift_Ins	INS	ENST00000371244.4	37	CCDS605.1																																																																																			.		0.421	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
HIP1R	9026	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	123339931	123339932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:123339931_123339932insC	ENST00000253083.4	+	11	1097_1098	c.972_973insC	c.(973-975)cccfs	p.P325fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	325					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TCAGCACAGGGCCCCCCGCGGG	0.688																																					p.G324fs		.											.	HIP1R-91	0			c.972_973insC						.																																			SO:0001589	frameshift_variant	9026	exon11			CACAGGGCCCCCC	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.978dupC	12.37:g.123339937_123339937dupC	ENSP00000253083:p.Pro325fs	40	0		171	60	NM_003959	0	0	0	0	0	A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Ins	INS	ENST00000253083.4	37	CCDS31922.1																																																																																			.		0.688	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
EFS	10278	broad.mit.edu	37	14	23826637	23826638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23826637_23826638insC	ENST00000216733.3	-	6	2090_2091	c.1483_1484insG	c.(1483-1485)gcafs	p.A495fs	EFS_ENST00000351354.3_Frame_Shift_Ins_p.A402fs|EFS_ENST00000429593.2_Frame_Shift_Ins_p.A326fs|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	495					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCAGAGGCTGCCAGCCGGCCC	0.668																																					p.A495fs		.											.	EFS-153	0			c.1484_1485insG						.																																			SO:0001589	frameshift_variant	10278	exon6			GAGGCTGCCAGCC	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1484dupG	14.37:g.23826639_23826639dupC	ENSP00000216733:p.Ala495fs	48	0		389	8	NM_005864	0	0	0	0	0	B2RAJ7|B4DJ56|E9PGU2|O43282	Frame_Shift_Ins	INS	ENST00000216733.3	37	CCDS9595.1																																																																																			.		0.668	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2		
TMC5	79838	broad.mit.edu	37	16	19452014	19452015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:19452014_19452015insT	ENST00000396229.2	+	3	1403_1404	c.654_655insT	c.(655-657)tttfs	p.F219fs	TMC5_ENST00000542583.2_Frame_Shift_Ins_p.F219fs|TMC5_ENST00000381414.4_Frame_Shift_Ins_p.F219fs|TMC5_ENST00000541464.1_Frame_Shift_Ins_p.F219fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	219					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCTCCACCCTTTTTTGGGGA	0.446																																					p.P218fs		.											.	TMC5-91	0			c.654_655insT						.																																			SO:0001589	frameshift_variant	79838	exon3			TCCACCCTTTTTT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.660dupT	16.37:g.19452020_19452020dupT	ENSP00000379531:p.Phe219fs	177	0		233	9	NM_001105249	0	0	0	0	0	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Frame_Shift_Ins	INS	ENST00000396229.2	37	CCDS45431.1																																																																																			.		0.446	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
KRTAP4-3	85290	broad.mit.edu	37	17	39324139	39324140	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG	rs12603046		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39324139_39324140insGCAGCAGGTGGTCAG	ENST00000391356.2	-	1	284_285	c.285_286insCTGACCACCTGCTGC	c.(283-288)tgcagg>tgcCTGACCACCTGCTGCagg	p.94_95insCLTTC		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	94	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTGGTCCTgcagcagctgg	0.614																																					p.R96delinsLTTCCR		.											.	KRTAP4-3-22	0			c.286_287insCTGACCACCTGCTGC						.			851,185,2620		113,2,623,8,167,915						-9.2	0.0			10	64,1597,6043		3,0,58,27,1543,2221	no	codingComplex	KRTAP4-3	NM_033187.1		116,2,681,35,1710,3136	A1A1,A1A2,A1R,A2A2,A2R,RR		21.5602,28.337,23.7412				915,1782,8663				SO:0001652	inframe_insertion	85290	exon1			TGGTCCTGCAGCA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.285_286insCTGACCACCTGCTGC	17.37:g.39324139_39324140insGCAGCAGGTGGTCAG	ENSP00000375151:p.Cys94_Cys95insCysLeuThrThrCys	196	0		285	10	NM_033187	0	0	0	0	0		In_Frame_Ins	INS	ENST00000391356.2	37	CCDS42331.1																																																																																			.		0.614	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
FLT3LG	2323	hgsc.bcm.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		FLT3LG_ENST00000596435.1_Intron|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595510.1_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																					.		.											.	FLT3LG-115	1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)	c.343-1->C						.																																			SO:0001630	splice_region_variant	2323	exon6			CTCCCAGCCCCCC	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1->C	19.37:g.49982174_49982174dupC		25	0		98	43	NM_001204502	0	0	0	0	0	A0AVC2|B9EGH2|Q05C96	Splice_Site	INS	ENST00000594009.1	37	CCDS12767.1																																																																																			.		0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Intron
CACNG6	59285	broad.mit.edu	37	19	54496174	54496175	+	Frame_Shift_Ins	INS	-	-	T	rs575512500|rs538013052	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54496174_54496175insT	ENST00000252729.2	+	1	633_634	c.43_44insT	c.(43-45)cggfs	p.R15fs	CACNG6_ENST00000346968.2_Frame_Shift_Ins_p.R15fs|CACNG6_ENST00000352529.1_Frame_Shift_Ins_p.R15fs	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAAccggcggcggggggccgcg	0.738																																					p.R15fs		.											.	CACNG6-92	0			c.43_44insT						.																																			SO:0001589	frameshift_variant	59285	exon1			CGGCGGCGGGGGG	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	Exception_encountered	19.37:g.54496174_54496175insT	ENSP00000252729:p.Arg15fs	5	0		11	5	NM_031897	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000252729.2	37	CCDS12870.1																																																																																			.		0.738	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1		
CMSS1	84319	hgsc.bcm.edu;bcgsc.ca	37	3	99567122	99567123	+	Intron	INS	-	-	TA			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:99567122_99567123insTA	ENST00000421999.2	+	1	210				FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.N1133fs|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.N893fs|FILIP1L_ENST00000354552.3_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										GCGTGGTCAGTTATATATATTA	0.396																																					p.N1133fs		.											.	FILIP1L-45	0			c.3398_3399insTA						.																																			SO:0001627	intron_variant	11259	exon5			GGTCAGTTATATA		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.64+30235->TA	3.37:g.99567129_99567130dupTA		260	2		165	143	NM_001042459	0	0	0	0	0	A8K5S7|B4DUM1|E9PHS3	Frame_Shift_Ins	INS	ENST00000421999.2	37	CCDS2935.1																																																																																			.		0.396	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359	
GCSAM	257144	broad.mit.edu;bcgsc.ca	37	3	111845872	111845873	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111845872_111845873insT	ENST00000308910.4	-	4	335_336	c.151_152insA	c.(151-153)atafs	p.I51fs	GCSAM_ENST00000484193.1_Frame_Shift_Ins_p.I53fs|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	51					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										AAAAATGAGTATTTTTTTCCTG	0.292																																					p.I53fs		.											.	.	0			c.158_159insA						.																																			SO:0001589	frameshift_variant	257144	exon4			ATGAGTATTTTTT	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.152dupA	3.37:g.111845879_111845879dupT	ENSP00000309487:p.Ile51fs	30	0		24	7	NM_001190259	0	0	0	0	0	C9JD17|C9JUG6	Frame_Shift_Ins	INS	ENST00000308910.4	37	CCDS2964.1																																																																																			.		0.292	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	
AMTN	401138	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	71394929	71394930	+	Splice_Site	INS	-	-	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:71394929_71394930insA	ENST00000339336.4	+	7	487		c.e7+2		AMTN_ENST00000504451.1_Splice_Site	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267																																					.		.											.	AMTN-153	0			c.357+2->A						.			4,4186		0,4,2091						5.3	1.0			32	10,8130		0,10,4060	no	splice-5	AMTN	NM_212557.2		0,14,6151	A1A1,A1R,RR		0.1229,0.0955,0.1135				14,12316				SO:0001630	splice_region_variant	401138	exon7			AATTGGTAAAAAA	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.357+2->A	4.37:g.71394937_71394937dupA		180	0		194	63	NM_212557	0	0	0	0	0	Q0P503|Q0P506	Splice_Site	INS	ENST00000339336.4	37	CCDS3542.1																																																																																			.		0.267	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	Intron
LARP7	51574	hgsc.bcm.edu	37	4	113578482	113578483	+	Stop_Codon_Ins	INS	-	-	A			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:113578482_113578483insA	ENST00000344442.5	+	0	2026_2027				LARP7_ENST00000509061.1_Stop_Codon_Ins|LARP7_ENST00000503898.1_3'UTR|LARP7_ENST00000324052.6_Stop_Codon_Ins	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAATATGATTGAAAAAAAAAAC	0.302																																					p.X590delinsX		.											.	LARP7-93	0			c.1769_1770insA						.																																			SO:0001567	stop_retained_variant	51574	exon15			ATGATTGAAAAAA	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1756dupA	4.37:g.113578492_113578492dupA		160	0		215	48	NM_001267039	0	0	0	0	0	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																			.		0.302	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
RAD50	10111	hgsc.bcm.edu	37	5	131931451	131931452	+	Frame_Shift_Ins	INS	-	-	A	rs587781454		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:131931451_131931452insA	ENST00000265335.6	+	13	2543_2544	c.2156_2157insA	c.(2155-2160)ctaaaafs	p.LK719fs	RAD50_ENST00000378823.3_Frame_Shift_Ins_p.LK580fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	719	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.L580L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATCAGAGCTAAAAAAAAAGG	0.416								Homologous recombination																													p.L719fs		.											.	RAD50-229	1	Substitution - coding silent(1)	breast(1)	c.2156_2157insA						.			1,4261		0,1,2130						6.1	1.0			67	3,8251		0,3,4124	no	frameshift	RAD50	NM_005732.3		0,4,6254	A1A1,A1R,RR		0.0363,0.0235,0.032				4,12512				SO:0001589	frameshift_variant	10111	exon13			CAGAGCTAAAAAA	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2165dupA	5.37:g.131931460_131931460dupA	ENSP00000265335:p.Leu719fs	41	0		67	16	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Ins	INS	ENST00000265335.6	37	CCDS34233.1																																																																																			.		0.416	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs201732168|rs113202486|rs574714675|rs71010672	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ|TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.55																																					p.Q63delinsQQ		.											.	TBP-91	2	Insertion - In frame(1)|Substitution - coding silent(1)	prostate(1)|breast(1)	c.189_190insCAG						.																																			SO:0001652	inframe_insertion	6908	exon3			ACAACAACAGCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.211_213dupCAG	6.37:g.170871020_170871022dupCAG	ENSP00000375942:p.Gln95dup	47	0		81	48	NM_003194	0	0	0	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Ins	INS	ENST00000392092.2	37	CCDS5315.1																																																																																			-|0.138;CAG|0.862		0.550	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
HSF1	3297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	145512978	145512979	+	5'Flank	INS	-	-	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145512978_145512979insG	ENST00000528838.1	+	0	0				BOP1_ENST00000529231.1_5'UTR|BOP1_ENST00000307404.5_Frame_Shift_Ins_p.L36fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1						cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGCAGAGGAGGGGGGGCTGC	0.639																																					p.L36fs		.											.	BOP1-90	0			c.107_108insC						.																																			SO:0001631	upstream_gene_variant	23246	exon2			CAGAGGAGGGGGG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604		8.37:g.145512985_145512985dupG	Exception_encountered	94	0		118	31	NM_015201	0	0	0	0	0	A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	CCDS6419.1																																																																																			.		0.639	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526	
PRRC2B	84726	broad.mit.edu	37	9	134351684	134351685	+	Frame_Shift_Ins	INS	-	-	G	rs376130854		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:134351684_134351685insG	ENST00000357304.4	+	15	4223_4224	c.4168_4169insG	c.(4168-4170)cggfs	p.R1390fs	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1390							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCGGGAGCGGCGGGAAGGCCCT	0.649											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1390fs		.											.	PRRC2B-24	0			c.4168_4169insG						.			25,3565		0,25,1770						5.9	1.0			12	73,7729		0,73,3828	no	frameshift	PRRC2B	NM_013318.3		0,98,5598	A1A1,A1R,RR		0.9357,0.6964,0.8603				98,11294				SO:0001589	frameshift_variant	84726	exon15			GAGCGGCGGGAAG	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4171dupG	9.37:g.134351687_134351687dupG	ENSP00000349856:p.Arg1390fs	13	0	1610	159	16	NM_013318	0	0	0	0	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Ins	INS	ENST00000357304.4	37	CCDS48044.1																																																																																			.		0.649	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu	37	9	138719314	138719315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:138719314_138719315insG	ENST00000389532.4	-	8	1225_1226	c.1161_1162insC	c.(1159-1164)cccgtgfs	p.V388fs	CAMSAP1_ENST00000483991.1_5'Flank|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.V399fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.V110fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	388					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)			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)		GGCAGCTGCACGGGGGGCTGCA	0.594																																					p.V388fs		.											.	CAMSAP1-92	0			c.1162_1163insC						.																																			SO:0001589	frameshift_variant	157922	exon8			GCTGCACGGGGGG	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.1162dupC	9.37:g.138719320_138719320dupG	ENSP00000374183:p.Val388fs	38	0		178	19	NM_015447	0	0	0	0	0	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	CCDS35176.2																																																																																			.		0.594	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
CAPN6	827	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	110496401	110496402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:110496401_110496402insT	ENST00000324068.1	-	4	507_508	c.340_341insA	c.(340-342)acafs	p.T114fs	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	114	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTATTTTTCTGTTTTTTGAGGG	0.406																																					p.T114fs		.											.	CAPN6-195	0			c.341_342insA						.																																			SO:0001589	frameshift_variant	827	exon4			TTTTCTGTTTTTT	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.341dupA	X.37:g.110496407_110496407dupT	ENSP00000317214:p.Thr114fs	63	0		54	49	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Ins	INS	ENST00000324068.1	37	CCDS14555.1																																																																																			.		0.406	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
MECP2	4204	broad.mit.edu	37	X	153295915	153295916	+	Frame_Shift_Ins	INS	-	-	C	rs267608625|rs104894864		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153295915_153295916insC	ENST00000303391.6	-	4	1612_1613	c.1363_1364insG	c.(1363-1365)gagfs	p.E455fs	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Frame_Shift_Ins_p.E467fs	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	455					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTCTCCCTCCCCTCGGTGT	0.614																																					p.E467fs		.											.	MECP2-226	0			c.1400_1401insG	GRCh37	CM024129	MECP2	M	rs104894864	.																																			SO:0001589	frameshift_variant	4204	exon3			TCTCCCTCCCCTC	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1364dupG	X.37:g.153295919_153295919dupC	ENSP00000301948:p.Glu455fs	76	0		152	11	NM_001110792	0	0	0	0	0	O15233|Q6QHH9|Q7Z384	Frame_Shift_Ins	INS	ENST00000303391.6	37	CCDS14741.1																																																																																			.		0.614	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	
CLTB	1212	hgsc.bcm.edu;mdanderson.org	37	5	175843341	175843342	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:175843341_175843342GA>CG	ENST00000310418.4	-	1	228_229	c.23_24TC>CG	c.(22-24)tTC>tCG	p.F8S	CLTB_ENST00000345807.2_Missense_Mutation_p.F8S	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	8					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CCGACGACGAGAAGAAGCCAAA	0.728																																					p.F8S		.											.	CLTB-90	0			c.T23C						.																																			SO:0001583	missense	1212	exon1			GACGAGAAGAAGC	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.23_24delinsCG	5.37:g.175843341_175843342delinsCG	ENSP00000309415:p.Phe8Ser	10	0		192	0	NM_001834	0	0	0	0	0	Q53Y37|Q6FHW1	Missense_Mutation	DNP	ENST00000310418.4	37	CCDS4403.1																																																																																			.		0.728	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1		
