#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
OR1F2P	26184	genome.wustl.edu	37	16	3265740	3265740	+	RNA	SNP	C	C	T	rs190956037	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr16:3265740C>T	ENST00000576468.1	+	0	418																											GGGGAACCTGCTCATCATCCT	0.562													c|||	5	0.000998403	0.0	0.0014	5008	,	,		18822	0.0		0.003	False		,,,				2504	0.001															0			16																																								3205741			26184																															16.37:g.3265740C>T			3205741		RNA	SNP	-	NULL	ENST00000576468.1	37	NULL		16																																																																																			-	-		0.562	AJ003147.9-001	KNOWN	basic	antisense	OR1F2P	antisense	OTTHUMT00000437543.1	C			3205741	+1	pseudogene	NR_002169	genbank	human	provisional	54_36p	rna	SNP	1.000	T
CCDC27	148870	genome.wustl.edu	37	1	3680021	3680021	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:3680021G>C	ENST00000294600.2	+	7	1388	c.1304G>C	c.(1303-1305)aGa>aCa	p.R435T		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	435										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCAGGACCAGATACTCCCTT	0.652																																																0			1											59.0	65.0	63.0					1																	3680021		2203	4300	6503	3669881	SO:0001583	missense	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1304G>C	1.37:g.3680021G>C	ENSP00000294600:p.Arg435Thr		3669881	Q5TBV3|Q96M50	Missense_Mutation	SNP	NULL	p.R435T	ENST00000294600.2	37	c.1304	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488753	0.26686	.	.	ENSG00000162592	ENST00000294600	T	0.18960	2.18	4.34	2.4	0.29515	.	0.469539	0.20154	N	0.098082	T	0.17066	0.0410	L	0.32530	0.975	0.28535	N	0.912383	P	0.52692	0.955	P	0.46510	0.519	T	0.05037	-1.0910	10	0.46703	T	0.11	-21.5778	6.2543	0.20865	0.2282:0.0:0.7718:0.0	.	435	Q2M243	CCD27_HUMAN	T	435	ENSP00000294600:R435T	ENSP00000294600:R435T	R	+	2	0	CCDC27	3669881	0.053000	0.20554	0.917000	0.36280	0.198000	0.23893	0.217000	0.17603	1.103000	0.41568	0.462000	0.41574	AGA	-	NULL		0.652	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	G	NM_152492		3669881	+1	no_errors	NM_152492	genbank	human	validated	54_36p	missense	SNP	0.901	C
WSCD1	23302	genome.wustl.edu	37	17	6023696	6023696	+	Silent	SNP	C	C	T	rs142363588		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:6023696C>T	ENST00000574946.1	+	9	1833	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	WSCD1_ENST00000317744.5_Silent_p.Y481Y|WSCD1_ENST00000573634.1_Silent_p.Y365Y|WSCD1_ENST00000539421.1_Silent_p.Y481Y|WSCD1_ENST00000574232.1_Silent_p.Y481Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	481						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCTCAAGTACGGGAAGCGGC	0.627																																																0			17						C		2,4404	4.2+/-10.8	0,2,2201	126.0	121.0	123.0		1443	-8.5	0.7	17	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	WSCD1	NM_015253.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		481/576	6023696	2,13004	2203	4300	6503	5964420	SO:0001819	synonymous_variant	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1443C>T	17.37:g.6023696C>T			5964420	A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	HMMSmart_WSC,HMMPfam_WSC,superfamily_SSF52540	p.Y481	ENST00000574946.1	37	c.1443	CCDS32538.1	17																																																																																			-	superfamily_SSF52540		0.627	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	protein_coding	OTTHUMT00000438965.4	C	NM_015253		5964420	+1	no_errors	NM_015253	genbank	human	validated	54_36p	silent	SNP	0.991	T
LPAR5	57121	genome.wustl.edu	37	12	6730187	6730187	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:6730187G>A	ENST00000329858.4	-	2	984	c.228C>T	c.(226-228)ccC>ccT	p.P76P	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.P76P	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGAGACGAACGGGCAGCGAGA	0.642																																					NSCLC(74;891 2312 37538)											0			12											48.0	36.0	40.0					12																	6730187		2202	4300	6502	6600448	SO:0001819	synonymous_variant	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.228C>T	12.37:g.6730187G>A			6600448		Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P76	ENST00000329858.4	37	c.228	CCDS8553.1	12																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.642	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	protein_coding	OTTHUMT00000400699.1	G	NM_020400		6600448	-1	no_errors	NM_020400	genbank	human	reviewed	54_36p	silent	SNP	0.836	A
TP53	7157	genome.wustl.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139.0	108.0	118.0					17																	7577559		2203	4300	6503	7518284	SO:0001583	missense	7157	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;	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.S241F	ENST00000269305.4	37	c.722	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	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;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7518284	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LRRC8E	80131	genome.wustl.edu	37	19	7965234	7965234	+	Silent	SNP	A	A	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:7965234A>G	ENST00000306708.6	+	3	1928	c.1827A>G	c.(1825-1827)gaA>gaG	p.E609E	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Silent_p.S11S	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	609					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGCTGCAGGAACTTGACCTCA	0.627																																																0			19											39.0	39.0	39.0					19																	7965234		2203	4300	6503	7871234	SO:0001819	synonymous_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1827A>G	19.37:g.7965234A>G			7871234	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1	p.E609	ENST00000306708.6	37	c.1827	CCDS12189.1	19																																																																																			-	superfamily_SSF52058		0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	protein_coding	OTTHUMT00000461354.1	A	NM_025061		7871234	+1	no_errors	NM_025061	genbank	human	validated	54_36p	silent	SNP	0.992	G
CC2D2A	57545	genome.wustl.edu	37	4	15539586	15539586	+	Missense_Mutation	SNP	C	C	T	rs376457814		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr4:15539586C>T	ENST00000503292.1	+	17	2009	c.1829C>T	c.(1828-1830)cCg>cTg	p.P610L	CC2D2A_ENST00000389652.5_Missense_Mutation_p.P561L|CC2D2A_ENST00000413206.1_Missense_Mutation_p.P610L|CC2D2A_ENST00000424120.1_Missense_Mutation_p.P610L|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	610					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATTGCAGAGCCGTATCCCGAG	0.542																																																0			4						C	LEU/PRO	0,4068		0,0,2034	61.0	70.0	67.0		1829	0.4	0.0	4		67	1,8403		0,1,4201	no	missense	CC2D2A	NM_001080522.2	98	0,1,6235	TT,TC,CC		0.0119,0.0,0.0080	benign	610/1621	15539586	1,12471	2034	4202	6236	15148684	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1829C>T	4.37:g.15539586C>T	ENSP00000421809:p.Pro610Leu		15148684	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	HMMSmart_C2	p.P610L	ENST00000503292.1	37	c.1829	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147079	0.21288	0.0	1.19E-4	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.39	0.443	0.16587	.	1.365850	0.04461	N	0.374400	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B;B	0.34349	0.005;0.45	B;B	0.27500	0.001;0.08	T	0.17018	-1.0383	10	0.11182	T	0.66	.	1.2844	0.02047	0.3633:0.3189:0.1088:0.209	.	610;561	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	L	610;610;561;561;610;561	ENSP00000403465:P610L;ENSP00000398391:P610L;ENSP00000421809:P610L;ENSP00000374303:P561L	ENSP00000374303:P561L	P	+	2	0	CC2D2A	15148684	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.242000	0.08928	-0.024000	0.13941	0.467000	0.42956	CCG	-	NULL		0.542	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15148684	+1	no_errors	NM_001080522	genbank	human	validated	54_36p	missense	SNP	0.000	T
PTPRO	5800	genome.wustl.edu	37	12	15654948	15654948	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:15654948C>A	ENST00000281171.4	+	5	1386	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	PTPRO_ENST00000543886.1_Silent_p.P352P|PTPRO_ENST00000348962.2_Silent_p.P352P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	352	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTACCACCCAAACCACCCA	0.418																																																0			12											89.0	83.0	85.0					12																	15654948		2203	4300	6503	15546215	SO:0001819	synonymous_variant	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1056C>A	12.37:g.15654948C>A			15546215	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.P352	ENST00000281171.4	37	c.1056	CCDS8675.1	12																																																																																			-	NULL		0.418	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	protein_coding	OTTHUMT00000401079.1	C			15546215	+1	no_errors	NM_030667	genbank	human	reviewed	54_36p	silent	SNP	0.936	A
LGALS9	3965	genome.wustl.edu	37	17	25974317	25974317	+	Silent	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:25974317T>G	ENST00000395473.2	+	10	2248	c.780T>G	c.(778-780)tcT>tcG	p.S260S	LGALS9_ENST00000310394.5_Silent_p.S216S|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000302228.5_Silent_p.S228S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	260	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACCTGTGCTCTGGGAACCACA	0.562																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)											0			17											87.0	82.0	84.0					17																	25974317		2203	4300	6503	22998444	SO:0001819	synonymous_variant	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.780T>G	17.37:g.25974317T>G			22998444	A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Silent	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin	p.S260	ENST00000395473.2	37	c.780	CCDS11222.1	17																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin		0.562	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	protein_coding	OTTHUMT00000255583.1	T	NM_009587		22998444	+1	no_errors	NM_009587	genbank	human	reviewed	54_36p	silent	SNP	0.001	G
BLMH	642	genome.wustl.edu	37	17	28618428	28618428	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:28618428C>A	ENST00000261714.6	-	2	286	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	38					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	AGACAGATGTCCAGCAGGTCG	0.592																																					Pancreas(127;628 1772 12912 33293 36203)											0			17											96.0	94.0	94.0					17																	28618428		2203	4300	6503	25642554	SO:0001583	missense	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.112G>T	17.37:g.28618428C>A	ENSP00000261714:p.Asp38Tyr		25642554	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1_2,PatternScan_THIOL_PROTEASE_CYS	p.D38Y	ENST00000261714.6	37	c.112	CCDS32604.1	17	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269920	0.59540	.	.	ENSG00000108578	ENST00000261714	T	0.48522	0.81	5.67	4.7	0.59300	.	0.142073	0.64402	D	0.000005	T	0.66307	0.2776	M	0.71206	2.165	0.80722	D	1	D	0.61080	0.989	D	0.71414	0.973	T	0.70212	-0.4934	10	0.72032	D	0.01	-19.8142	13.6409	0.62251	0.0:0.9259:0.0:0.0741	.	38	Q13867	BLMH_HUMAN	Y	38	ENSP00000261714:D38Y	ENSP00000261714:D38Y	D	-	1	0	BLMH	25642554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.531000	0.67148	1.393000	0.46605	0.655000	0.94253	GAC	-	superfamily_Cysteine proteinases,HMMPfam_Peptidase_C1_2		0.592	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	protein_coding	OTTHUMT00000447940.1	C	NM_000386		25642554	-1	no_errors	NM_000386	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CDAN1	146059	genome.wustl.edu	37	15	43021765	43021765	+	Splice_Site	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr15:43021765C>T	ENST00000356231.3	-	17	2431		c.e17+1			NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1						chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCGGTGCTCACCGATGTAGGG	0.607																																																0			15											64.0	58.0	60.0					15																	43021765		2203	4299	6502	40809057	SO:0001630	splice_region_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2407+1G>A	15.37:g.43021765C>T			40809057	Q6NYD0|Q7Z7L5|Q969N3	Splice_Site	SNP	-	e17+1	ENST00000356231.3	37	c.2407+1	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309698	0.60414	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDAN1	40809057	1.000000	0.71417	0.989000	0.46669	0.402000	0.30811	7.102000	0.77005	2.653000	0.90120	0.563000	0.77884	.	-	-		0.607	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	protein_coding	OTTHUMT00000431103.1	C	XM_085300	Intron	40809057	-1	no_errors	NM_138477	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42356272	42356272	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:42356272C>A	ENST00000298119.4	+	3	1633	c.444C>A	c.(442-444)gcC>gcA	p.A148A	LRFN5_ENST00000554171.1_Silent_p.A148A|LRFN5_ENST00000554120.1_Silent_p.A148A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	148						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGTCTTCGCCCTTGAGGAGC	0.393										HNSCC(30;0.082)																																						0			14											88.0	79.0	82.0					14																	42356272		2203	4300	6503	41426022	SO:0001819	synonymous_variant	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.444C>A	14.37:g.42356272C>A			41426022	B3KU78|Q86XL2	Silent	SNP	HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like	p.A148	ENST00000298119.4	37	c.444	CCDS9678.1	14																																																																																			-	superfamily_SSF52058,HMMPfam_LRR_1		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	protein_coding	OTTHUMT00000276786.1	C	NM_152447		41426022	+1	no_errors	NM_152447	genbank	human	validated	54_36p	silent	SNP	0.999	A
RSPH1	89765	genome.wustl.edu	37	21	43913112	43913112	+	Nonsense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr21:43913112G>C	ENST00000291536.3	-	2	299	c.132C>G	c.(130-132)taC>taG	p.Y44*	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	44					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						AGCTCCCTTCGTAGGTGTCCC	0.498																																					Esophageal Squamous(23;63 706 6286 10288 12913)											0			21											262.0	232.0	242.0					21																	43913112		2203	4300	6503	42786181	SO:0001587	stop_gained	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.132C>G	21.37:g.43913112G>C	ENSP00000291536:p.Tyr44*		42786181	A8MWV0|B2RBN9|Q3MJA1	Nonsense_Mutation	SNP	HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698	p.Y44*	ENST00000291536.3	37	c.132	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293226	0.80914	.	.	ENSG00000160188	ENST00000291536	.	.	.	4.94	-9.29	0.00653	.	0.112958	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.4355	0.99971	0.246:0.0:0.754:0.0	.	.	.	.	X	44	.	ENSP00000291536:Y44X	Y	-	3	2	RSPH1	42786181	0.003000	0.15002	0.036000	0.18154	0.661000	0.39034	-1.263000	0.02850	-1.982000	0.00988	-1.327000	0.01280	TAC	-	superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN		0.498	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	protein_coding	OTTHUMT00000195379.1	G			42786181	-1	no_errors	NM_080860	genbank	human	validated	54_36p	nonsense	SNP	0.852	C
SPATA31A6	389730	genome.wustl.edu	37	9	43626815	43626815	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr9:43626815G>A	ENST00000332857.6	-	4	1900	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	624					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGGTGATTCGTCCCGAAGCT	0.547																																																0			9																																								43566811	SO:0001819	synonymous_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1872C>T	9.37:g.43626815G>A			43566811		Silent	SNP	NULL	p.D624	ENST00000332857.6	37	c.1872	CCDS47973.1	9																																																																																			-	NULL		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A6	protein_coding	OTTHUMT00000036987.1	G	NM_001145196		43566811	-1	no_errors	ENST00000332857	ensembl	human	known	54_36p	silent	SNP	0.000	A
MDGA2	161357	genome.wustl.edu	37	14	47770670	47770670	+	Missense_Mutation	SNP	G	G	A	rs182033392		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:47770670G>A	ENST00000399232.2	-	2	521	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000472499.2_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R122W|MDGA2_ENST00000357362.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	53	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R122W(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCTTCCCGGATAGTGTAG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17608	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											159.0	150.0	153.0					14																	47770670		692	1591	2283	46840420	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.157C>T	14.37:g.47770670G>A	ENSP00000382178:p.Arg53Trp		46840420	F6W3S7|J3KPX6	Missense_Mutation	SNP	PatternScan_MAM_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_MAM,HMMPfam_MAM	p.R53W	ENST00000399232.2	37	c.157		14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.51	2.259795	0.39995	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.49432	0.78;0.78;0.78	5.2	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31404	U	0.007720	T	0.69468	0.3114	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74714	-0.3572	10	0.72032	D	0.01	.	14.202	0.65710	0.0:0.0:0.8494:0.1506	.	53	Q7Z553	MDGA2_HUMAN	W	53;122;77	ENSP00000400011:R53W;ENSP00000382178:R122W;ENSP00000452515:R77W	ENSP00000382178:R122W	R	-	1	2	MDGA2	46840420	1.000000	0.71417	0.611000	0.29010	0.011000	0.07611	2.364000	0.44187	1.313000	0.45069	0.650000	0.86243	CGG	-	superfamily_SSF48726,HMMSmart_IGc2		0.512	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	G	NM_182830		46840420	-1	no_errors	ENST00000399232	ensembl	human	known	54_36p	missense	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42798380	42798380	+	Silent	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:42798380C>T	ENST00000575354.2	+	18	4291	c.4251C>T	c.(4249-4251)cgC>cgT	p.R1417R	CIC_ENST00000572681.2_Silent_p.R2323R|CIC_ENST00000160740.3_Silent_p.R1415R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGAGAAGACGCTCCAGCTGCA	0.617			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0			19											73.0	75.0	74.0					19																	42798380		2203	4300	6503	47490220	SO:0001819	synonymous_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4251C>T	19.37:g.42798380C>T			47490220	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box	p.R1417	ENST00000575354.2	37	c.4251	CCDS12601.1	19																																																																																			-	NULL		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	protein_coding	OTTHUMT00000438532.2	C			47490220	+1	no_errors	NM_015125	genbank	human	validated	54_36p	silent	SNP	1.000	T
PSG5	5673	genome.wustl.edu	37	19	43679476	43679476	+	Silent	SNP	C	C	T	rs200847369		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:43679476C>T	ENST00000366175.3	-	4	985	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PSG5_ENST00000404580.1_Silent_p.K285K|PSG5_ENST00000599812.1_Silent_p.K378K|PSG5_ENST00000407356.1_Silent_p.K285K|PSG5_ENST00000342951.6_Silent_p.K285K|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	285	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATAGAGAGCTTTTGTCCTG	0.453																																																0			19											179.0	191.0	187.0					19																	43679476		2202	4295	6497	48371316	SO:0001819	synonymous_variant	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.855G>A	19.37:g.43679476C>T			48371316	Q15239|Q96QJ1|Q9UQ75	Silent	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2	p.K285	ENST00000366175.3	37	c.855	CCDS12617.1	19																																																																																			-	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig		0.453	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	protein_coding	OTTHUMT00000323055.1	C	NM_002781		48371316	-1	no_errors	NM_002781	genbank	human	validated	54_36p	silent	SNP	0.004	T
ESPL1	9700	genome.wustl.edu	37	12	53687185	53687185	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:53687185G>A	ENST00000257934.4	+	31	6381	c.6290G>A	c.(6289-6291)cGc>cAc	p.R2097H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R2097H|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000351500.3_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2097					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AACCAGGCCCGCCAAGCTCCC	0.572																																					Colon(53;1069 1201 2587 5382)											0			12											60.0	62.0	61.0					12																	53687185		2203	4300	6503	51973452	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6290G>A	12.37:g.53687185G>A	ENSP00000257934:p.Arg2097His		51973452		Missense_Mutation	SNP	HMMPfam_Peptidase_C50	p.R2097H	ENST00000257934.4	37	c.6290	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759437	0.89932	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.32988	1.43;1.43	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.90082	3.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.72398	-0.4306	10	0.87932	D	0	.	16.9883	0.86346	0.0:0.0:1.0:0.0	.	2097	Q14674	ESPL1_HUMAN	H	2097;1772;2097	ENSP00000257934:R2097H;ENSP00000449831:R2097H	ENSP00000257934:R2097H	R	+	2	0	ESPL1	51973452	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.296000	0.96104	2.621000	0.88768	0.563000	0.77884	CGC	-	NULL		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	G	NM_012291		51973452	+1	no_errors	NM_012291	genbank	human	validated	54_36p	missense	SNP	1.000	A
PXDNL	137902	genome.wustl.edu	37	8	52325741	52325741	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr8:52325741T>A	ENST00000356297.4	-	15	1973	c.1873A>T	c.(1873-1875)Att>Ttt	p.I625F	PXDNL_ENST00000543296.1_Missense_Mutation_p.I625F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	625					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGAGTTAATTGCACTGTCA	0.348																																																0			8											134.0	133.0	134.0					8																	52325741		1872	4121	5993	52488294	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1873A>T	8.37:g.52325741T>A	ENSP00000348645:p.Ile625Phe		52488294	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1	p.I625F	ENST00000356297.4	37	c.1873	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471811	0.63737	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68181	-0.31;-0.29	4.94	-0.432	0.12291	.	.	.	.	.	T	0.72503	0.3468	M	0.83603	2.65	0.31724	N	0.637951	D	0.61080	0.989	P	0.54856	0.762	T	0.70769	-0.4782	9	0.62326	D	0.03	.	4.1992	0.10458	0.1414:0.2504:0.0:0.6082	.	625	A1KZ92	PXDNL_HUMAN	F	625	ENSP00000348645:I625F;ENSP00000444865:I625F	ENSP00000348645:I625F	I	-	1	0	PXDNL	52488294	1.000000	0.71417	0.992000	0.48379	0.836000	0.47400	1.449000	0.35123	-0.327000	0.08551	-0.256000	0.11100	ATT	-	NULL		0.348	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	T	NM_144651		52488294	-1	no_errors	NM_144651	genbank	human	validated	54_36p	missense	SNP	1.000	A
MYO1A	4640	genome.wustl.edu	37	12	57432326	57432326	+	Missense_Mutation	SNP	G	G	A	rs202137133		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:57432326G>A	ENST00000442789.2	-	18	1917	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYO1A_ENST00000300119.3_Missense_Mutation_p.R544W|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.R382W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	544	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						AACAAGGACCGAAGGAGGGGG	0.537																																																0			12											75.0	74.0	74.0					12																	57432326		2203	4300	6503	55718593	SO:0001583	missense	4640			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.1630C>T	12.37:g.57432326G>A	ENSP00000393392:p.Arg544Trp		55718593	Q9UQD7	Missense_Mutation	SNP	HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_TH1	p.R544W	ENST00000442789.2	37	c.1630	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721697	0.68959	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.72725	-0.68;-0.68;-0.68	4.94	4.04	0.47022	Myosin head, motor domain (2);	0.715706	0.13568	N	0.378278	T	0.80116	0.4564	M	0.83312	2.635	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.71174	-0.4670	10	0.87932	D	0	.	10.9273	0.47197	0.0:0.0:0.6624:0.3376	.	544	Q9UBC5	MYO1A_HUMAN	W	544;544;382	ENSP00000300119:R544W;ENSP00000393392:R544W;ENSP00000440514:R382W	ENSP00000300119:R544W	R	-	1	2	MYO1A	55718593	0.136000	0.22515	0.909000	0.35828	0.870000	0.49936	2.287000	0.43505	1.202000	0.43218	0.561000	0.74099	CGG	-	HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	protein_coding	OTTHUMT00000313833.2	G	NM_005379		55718593	-1	no_errors	NM_005379	genbank	human	reviewed	54_36p	missense	SNP	0.136	A
CHMP2A	27243	genome.wustl.edu	37	19	59063542	59063542	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:59063542G>T	ENST00000600118.1	-	3	784	c.359C>A	c.(358-360)cCc>cAc	p.P120H	CHMP2A_ENST00000601220.1_Missense_Mutation_p.P120H|CHMP2A_ENST00000312547.2_Missense_Mutation_p.P120H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	120	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGGATCTGGGGCAACTTCAG	0.522																																																0			19											232.0	203.0	213.0					19																	59063542		2203	4300	6503	63755354	SO:0001583	missense	27243			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.359C>A	19.37:g.59063542G>T	ENSP00000469240:p.Pro120His		63755354	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	HMMPfam_Snf7	p.P120H	ENST00000600118.1	37	c.359	CCDS12986.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163877	0.78226	.	.	ENSG00000130724	ENST00000312547	T	0.73575	-0.76	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92641	0.6124	10	0.87932	D	0	.	15.1529	0.72717	0.0:0.0:1.0:0.0	.	120	O43633	CHM2A_HUMAN	H	120	ENSP00000310440:P120H	ENSP00000310440:P120H	P	-	2	0	CHMP2A	63755354	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.642000	0.67888	2.529000	0.85273	0.650000	0.86243	CCC	-	HMMPfam_Snf7		0.522	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHMP2A	protein_coding	OTTHUMT00000467088.1	G	NM_014453		63755354	-1	no_errors	NM_014453	genbank	human	validated	54_36p	missense	SNP	1.000	T
MIR1269A	100302177	genome.wustl.edu	37	4	67142577	67142577	+	RNA	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr4:67142577C>T	ENST00000408636.1	+	0	36					NR_031673.1				microRNA 1269a																		gttggcatggctcagtccaag	0.557																																																0			4											86.0	79.0	81.0					4																	67142577		1568	3582	5150	66825172			0					4	2011-11-14	2011-11-14	2011-11-14	ENSG00000221563	ENSG00000221563		"""ncRNAs / Micro RNAs"""	35337	non-coding RNA	RNA, micro			"""microRNA 1269"""	MIRN1269, MIR1269			Standard	NR_031673		Approved	hsa-mir-1269					4.37:g.67142577C>T			66825172		RNA	SNP	-	NULL	ENST00000408636.1	37	NULL		4																																																																																			-	-		0.557	MIR1269A-201	KNOWN	basic	miRNA	MIRN1269	miRNA		C	NR_031673		66825172	+1	no_errors	ENST00000408636	ensembl	human	known	54_36p	rna	SNP	0.027	T
IL23R	149233	genome.wustl.edu	37	1	67724312	67724312	+	Missense_Mutation	SNP	C	C	T	rs138098976	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:67724312C>T	ENST00000347310.5	+	11	1562	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	IL23R_ENST00000395227.1_Missense_Mutation_p.P209L|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	464					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGAGACTACCCGCAAAACTCG	0.413													T|||	4	0.000798722	0.0023	0.0014	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0															0			1											99.0	103.0	102.0					1																	67724312		2203	4300	6503	67496900	SO:0001583	missense	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1391C>T	1.37:g.67724312C>T	ENSP00000321345:p.Pro464Leu		67496900	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMPfam_fn3	p.P464L	ENST00000347310.5	37	c.1391	CCDS637.1	1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	10.53|10.53	1.376447|1.376447	0.24857|0.24857	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000395227|ENST00000425614	T;T|.	0.33438|.	1.41;1.51|.	5.78|5.78	1.52|1.52	0.23074|0.23074	.|.	0.692953|.	0.13848|.	N|.	0.358537|.	T|T	0.02267|0.02267	0.0070|0.0070	N|N	0.00801|0.00801	-1.175|-1.175	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.10296|.	0.0;0.0;0.0;0.0;0.003|.	B;B;B;B;B|.	0.06405|.	0.0;0.0;0.0;0.0;0.002|.	T|T	0.47837|0.47837	-0.9086|-0.9086	10|5	0.16420|.	T|.	0.52|.	-2.7929|-2.7929	8.8386|8.8386	0.35129|0.35129	0.0:0.4172:0.0:0.5828|0.0:0.4172:0.0:0.5828	.|.	210;99;62;209;464|.	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;IL23R_HUMAN|.	L|C	464;209|226	ENSP00000321345:P464L;ENSP00000378652:P209L|.	ENSP00000321345:P464L|.	P|R	+|+	2|1	0|0	IL23R|IL23R	67496900|67496900	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.584000|-0.584000	0.05800|0.05800	0.003000|0.003000	0.14656|0.14656	-0.269000|-0.269000	0.10298|0.10298	CCG|CGC	-	NULL		0.413	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	protein_coding	OTTHUMT00000025199.2	C	NM_144701		67496900	+1	no_errors	NM_144701	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
SLC8A3	6547	genome.wustl.edu	37	14	70634088	70634088	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:70634088C>T	ENST00000381269.2	-	2	1805	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R351H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R351H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R351H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R351H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	351					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTAGAAGGCACGGCTCTTCTG	0.498																																																0			14											87.0	89.0	88.0					14																	70634088		2203	4300	6503	69703841	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1052G>A	14.37:g.70634088C>T	ENSP00000370669:p.Arg351His		69703841	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta	p.R351H	ENST00000381269.2	37	c.1052	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982178	0.74474	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.46063	0.95;0.88;1.02;0.95;1.02	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.994;0.994	T	0.76945	-0.2771	10	0.59425	D	0.04	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	351;351;351;351	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	351	ENSP00000349392:R351H;ENSP00000370669:R351H;ENSP00000350560:R351H;ENSP00000436688:R351H;ENSP00000433531:R351H	ENSP00000349392:R351H	R	-	2	0	SLC8A3	69703841	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGT	-	NULL		0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	C			69703841	-1	no_errors	NM_183002	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
TTYH2	94015	genome.wustl.edu	37	17	72233433	72233433	+	Splice_Site	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:72233433G>A	ENST00000269346.4	+	4	489	c.415G>A	c.(415-417)Gtt>Att	p.V139I	TTYH2_ENST00000529107.1_Splice_Site_p.V118I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	139						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTCCCTAGGTTTCCGGAAC	0.592																																																0			17											80.0	84.0	82.0					17																	72233433		2203	4300	6503	69745028	SO:0001630	splice_region_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.415-1G>A	17.37:g.72233433G>A			69745028	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	HMMPfam_Tweety	p.V139I	ENST00000269346.4	37	c.415	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683796	0.68157	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.15834	2.39;2.39	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.87578	0.998;0.836	T	0.42766	-0.9432	9	.	.	.	-24.8347	18.8097	0.92053	0.0:0.0:1.0:0.0	.	118;139	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	I	139;118	ENSP00000269346:V139I;ENSP00000433089:V118I	.	V	+	1	0	TTYH2	69745028	1.000000	0.71417	0.988000	0.46212	0.257000	0.26127	9.150000	0.94667	2.526000	0.85167	0.655000	0.94253	GTT	-	HMMPfam_Tweety		0.592	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	protein_coding	OTTHUMT00000387459.1	G		Missense_Mutation	69745028	+1	no_errors	NM_032646	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HID1	283987	genome.wustl.edu	37	17	72950391	72950391	+	Missense_Mutation	SNP	G	G	A	rs373062583		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:72950391G>A	ENST00000425042.2	-	14	1783	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	569					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GGGCGGGTCCGTGGGCAGGTT	0.682																																																0			17											46.0	37.0	40.0					17																	72950391		2198	4295	6493	70461986	SO:0001583	missense	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1706C>T	17.37:g.72950391G>A	ENSP00000413520:p.Thr569Met		70461986	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	HMMPfam_Hid1	p.T569M	ENST00000425042.2	37	c.1706	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732815	0.69189	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	3.46	0.39613	.	0.058957	0.64402	D	0.000002	T	0.73760	0.3628	M	0.81802	2.56	0.47511	D	0.999447	D	0.56287	0.975	P	0.54401	0.751	T	0.77807	-0.2450	9	0.62326	D	0.03	-9.0771	14.0242	0.64575	0.0:0.1528:0.8472:0.0	.	569	Q8IV36	CQ028_HUMAN	M	341;569;341	.	ENSP00000317795:T341M	T	-	2	0	C17orf28	70461986	1.000000	0.71417	0.975000	0.42487	0.845000	0.48019	5.537000	0.67186	0.810000	0.34279	0.561000	0.74099	ACG	-	HMMPfam_Hid1		0.682	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf28	protein_coding	OTTHUMT00000390011.2	G	NM_030630		70461986	-1	no_errors	NM_030630	genbank	human	validated	54_36p	missense	SNP	0.995	A
MSH4	4438	genome.wustl.edu	37	1	76276396	76276396	+	Silent	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:76276396T>G	ENST00000263187.3	+	4	707	c.603T>G	c.(601-603)ctT>ctG	p.L201L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	201					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCACTAAACTTAAAATTTTAT	0.274								Mismatch excision repair (MMR)																																								0			1											54.0	57.0	56.0					1																	76276396		2203	4297	6500	76048984	SO:0001819	synonymous_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.603T>G	1.37:g.76276396T>G			76048984	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2	p.L201	ENST00000263187.3	37	c.603	CCDS670.1	1																																																																																			-	superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	protein_coding	OTTHUMT00000026983.1	T	NM_002440		76048984	+1	no_errors	NM_002440	genbank	human	validated	54_36p	silent	SNP	0.945	G
B3GNTL1	146712	genome.wustl.edu	37	17	80923572	80923572	+	Silent	SNP	C	C	G	rs78357976	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:80923572C>G	ENST00000320865.3	-	7	568	c.555G>C	c.(553-555)tcG>tcC	p.S185S	B3GNTL1_ENST00000576599.1_Silent_p.S74S|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	185							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACCACGCTCGCGAGCAGAACC	0.577																																																0			17											56.0	50.0	52.0					17																	80923572		2203	4300	6503	78516861	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.555G>C	17.37:g.80923572C>G			78516861	Q6GV30|Q8WUT3	Silent	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2	p.S185	ENST00000320865.3	37	c.555	CCDS32778.1	17																																																																																			-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2		0.577	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	protein_coding	OTTHUMT00000438949.1	C	NM_001009905		78516861	-1	no_errors	NM_001009905	genbank	human	validated	54_36p	silent	SNP	0.042	G
CD36	948	genome.wustl.edu	37	7	80285982	80285982	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr7:80285982A>T	ENST00000435819.1	+	7	931	c.247A>T	c.(247-249)Att>Ttt	p.I83F	CD36_ENST00000441109.2_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.I83F|CD36_ENST00000538969.1_Missense_Mutation_p.I83F|CD36_ENST00000433696.2_Missense_Mutation_p.I83F|CD36_ENST00000394788.3_Missense_Mutation_p.I83F|CD36_ENST00000309881.7_Missense_Mutation_p.I83F|CD36_ENST00000534394.1_Missense_Mutation_p.I7F|CD36_ENST00000447544.2_Missense_Mutation_p.I83F|CD36_ENST00000544133.1_Missense_Mutation_p.I83F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	83					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 cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						CAGCAGCAACATTCAAGTTAA	0.393																																																0			7											100.0	93.0	95.0					7																	80285982		2203	4300	6503	80123918	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.247A>T	7.37:g.80285982A>T	ENSP00000399421:p.Ile83Phe		80123918	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	HMMPfam_CD36	p.I83F	ENST00000435819.1	37	c.247	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378372	0.42207	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.53	2.92	0.33932	.	0.156649	0.56097	D	0.000035	T	0.71459	0.3342	M	0.75447	2.3	0.37511	D	0.917131	P	0.44690	0.841	B	0.44315	0.446	T	0.75863	-0.3167	9	.	.	.	-26.891	12.1375	0.53979	0.5691:0.4309:0.0:0.0	.	83	P16671	CD36_HUMAN	F	83;83;7;83;83;83;83;83;83;83;83;83;83;83;83	ENSP00000399421:I83F;ENSP00000308165:I83F;ENSP00000431296:I7F;ENSP00000410371:I83F;ENSP00000398760:I83F;ENSP00000409762:I83F;ENSP00000378268:I83F;ENSP00000415743:I83F;ENSP00000416388:I83F;ENSP00000411411:I83F;ENSP00000407690:I83F;ENSP00000392298:I83F;ENSP00000439543:I83F;ENSP00000441956:I83F;ENSP00000401863:I83F	.	I	+	1	0	CD36	80123918	0.984000	0.35163	0.892000	0.35008	0.531000	0.34715	2.775000	0.47702	0.978000	0.38470	0.533000	0.62120	ATT	-	HMMPfam_CD36		0.393	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	protein_coding	OTTHUMT00000339767.6	A	NM_001001547		80123918	+1	no_errors	NM_000072	genbank	human	reviewed	54_36p	missense	SNP	0.617	T
GRID1	2894	genome.wustl.edu	37	10	87628911	87628911	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:87628911A>T	ENST00000327946.7	-	6	892	c.807T>A	c.(805-807)gaT>gaA	p.D269E		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	269					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TATGGACCAGATCCAGGATCT	0.502										Multiple Myeloma(13;0.14)																																						0			10											140.0	125.0	130.0					10																	87628911		2203	4300	6503	87618891	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.807T>A	10.37:g.87628911A>T	ENSP00000330148:p.Asp269Glu		87618891	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,PatternScan_ALDEHYDE_DEHYDR_GLU	p.D269E	ENST00000327946.7	37	c.807	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	A	4.627	0.116607	0.08881	.	.	ENSG00000182771	ENST00000327946	D	0.81908	-1.55	5.82	0.809	0.18725	Extracellular ligand-binding receptor (1);	0.044244	0.85682	D	0.000000	T	0.39835	0.1093	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50642	-0.8804	10	0.02654	T	1	.	5.9713	0.19353	0.4274:0.2899:0.2828:0.0	.	269	Q9ULK0	GRID1_HUMAN	E	269	ENSP00000330148:D269E	ENSP00000330148:D269E	D	-	3	2	GRID1	87618891	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.842000	0.39250	0.115000	0.18071	-0.912000	0.02778	GAT	-	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	A	XM_043613		87618891	-1	no_errors	NM_017551	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NUTM2D	728130	genome.wustl.edu	37	10	89120535	89120535	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:89120535C>A	ENST00000381697.2	+	2	1062	c.464C>A	c.(463-465)aCc>aAc	p.T155N	NUTM2D_ENST00000412718.1_Missense_Mutation_p.T155N|LINC00863_ENST00000439559.2_lincRNA			Q5VT03	NTM2D_HUMAN	NUT family member 2D	155																	TTAACTCAGACCCCCCTCGTC	0.652																																																0			10											26.0	28.0	28.0					10																	89120535		838	1573	2411	89110515	SO:0001583	missense	728130					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.464C>A	10.37:g.89120535C>A	ENSP00000371116:p.Thr155Asn		89110515	A6NGV9	Missense_Mutation	SNP	NULL	p.T155N	ENST00000381697.2	37	c.464		10	.	.	.	.	.	.	.	.	.	.	c	0.827	-0.746564	0.03065	.	.	ENSG00000214562	ENST00000330762;ENST00000381697;ENST00000412718	T;T	0.25414	1.8;1.8	0.9	-0.187	0.13268	Nuclear Testis  protein, N-terminal (1);	0.883975	0.09731	N	0.763085	T	0.18087	0.0434	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.0	T	0.23226	-1.0194	9	0.59425	D	0.04	.	6.1341	0.20221	0.2914:0.7086:0.0:0.0	.	155;155	Q5VT03-2;Q5VT03	.;FA22D_HUMAN	N	226;155;155	ENSP00000371116:T155N;ENSP00000396080:T155N	ENSP00000328439:T226N	T	+	2	0	FAM22D	89110515	0.051000	0.20477	0.000000	0.03702	0.010000	0.07245	-0.145000	0.10265	-1.135000	0.02895	-1.294000	0.01345	ACC	-	NULL		0.652	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	protein_coding	OTTHUMT00000470142.1	C	NR_075100		89110515	+1	no_errors	NM_001009610	genbank	human	predicted	54_36p	missense	SNP	0.340	A
TC2N	123036	genome.wustl.edu	37	14	92253887	92253887	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:92253887G>A	ENST00000435962.2	-	10	1455	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	TC2N_ENST00000556018.1_Missense_Mutation_p.L314F|TC2N_ENST00000340892.5_Missense_Mutation_p.L378F|TC2N_ENST00000360594.5_Missense_Mutation_p.L378F	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	378	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAGCTTGGAAGGTACCGTGCC	0.348																																																0			14											127.0	114.0	119.0					14																	92253887		2203	4300	6503	91323640	SO:0001583	missense	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1132C>T	14.37:g.92253887G>A	ENSP00000387882:p.Leu378Phe		91323640		Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.L378F	ENST00000435962.2	37	c.1132	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244476	0.59103	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	L	0.29908	0.895	0.49582	D	0.9998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.85774	0.1357	10	0.38643	T	0.18	-22.7014	19.7014	0.96054	0.0:0.0:1.0:0.0	.	314;378	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	F	378;378;378;314;130	ENSP00000387882:L378F;ENSP00000343199:L378F;ENSP00000353802:L378F;ENSP00000451317:L314F;ENSP00000450922:L130F	ENSP00000343199:L378F	L	-	1	0	TC2N	91323640	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	8.093000	0.89531	2.733000	0.93635	0.561000	0.74099	CTT	-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2		0.348	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	G	NM_152332		91323640	-1	no_errors	NM_152332	genbank	human	validated	54_36p	missense	SNP	1.000	A
ABCD1P5	642762	genome.wustl.edu	37	2	92031697	92031697	+	IGR	SNP	A	A	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:92031697A>T								AC027612.2 (79653 upstream) : SLC9B1P2 (48800 downstream)																							CGGCTGGAGCAGCAGCTGGCG	0.662																																																0			2																																								91395424	SO:0001628	intergenic_variant	0																															2.37:g.92031697A>T			91395424		Missense_Mutation	SNP	HMMPfam_ABC_tran,superfamily_SSF52540	p.Q161L		37	c.482		2																																																																																			-	NULL	0	0.662					ENSG00000214330			A			91395424	+1	no_start_codon	ENST00000398126	ensembl	human	known	54_36p	missense	SNP	0.976	T
ATG2B	55102	genome.wustl.edu	37	14	96795893	96795893	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:96795893G>A	ENST00000359933.4	-	12	2702	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	603					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTGCCCAATGGACATATCAG	0.323																																																0			14											111.0	111.0	111.0					14																	96795893		1817	4078	5895	95865646	SO:0001819	synonymous_variant	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1809C>T	14.37:g.96795893G>A			95865646	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	HMMPfam_ATG_C	p.S603	ENST00000359933.4	37	c.1809	CCDS9944.2	14																																																																																			-	NULL		0.323	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	G	NM_018036		95865646	-1	no_errors	NM_018036	genbank	human	validated	54_36p	silent	SNP	0.941	A
EPHA6	285220	genome.wustl.edu	37	3	96706268	96706268	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr3:96706268G>C	ENST00000389672.5	+	3	583	c.545G>C	c.(544-546)cGt>cCt	p.R182P	EPHA6_ENST00000542517.1_Missense_Mutation_p.R88P|EPHA6_ENST00000470610.2_Missense_Mutation_p.R182P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R88H(2)|p.R88P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AACTGGCTTCGTACAAACTGG	0.433																																																4	Substitution - Missense(4)	ovary(2)|stomach(2)	3											96.0	95.0	95.0					3																	96706268		1880	4105	5985	98188958	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.545G>C	3.37:g.96706268G>C	ENSP00000374323:p.Arg182Pro		98188958	D6RAL5	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,superfamily_Growth factor receptor domain,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.R182P	ENST00000389672.5	37	c.545	CCDS46876.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963717	0.74016	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.04234	3.67;3.67;3.67	5.74	5.74	0.90152	.	0.315711	0.27836	U	0.017648	T	0.28962	0.0719	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06391	-1.0829	10	0.87932	D	0	.	15.0648	0.71986	0.0696:0.0:0.9304:0.0	.	182;182	B3KS12;E7EU71	.;.	P	182;182;88	ENSP00000420598:R182P;ENSP00000374323:R182P;ENSP00000439758:R88P	ENSP00000374323:R182P	R	+	2	0	EPHA6	98188958	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	5.559000	0.67326	2.703000	0.92315	0.655000	0.94253	CGT	-	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615		0.433	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	protein_coding	OTTHUMT00000353845.3	G	NM_001080448		98188958	+1	no_errors	NM_001080448	genbank	human	provisional	54_36p	missense	SNP	1.000	C
PPRC1	23082	genome.wustl.edu	37	10	103906948	103906948	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:103906948G>A	ENST00000278070.2	+	9	4238	c.4199G>A	c.(4198-4200)cGg>cAg	p.R1400Q	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R367Q|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1400	Arg-rich.|Necessary for interaction with CREB1 and NRF1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAAGCAGCGGTCAATGCGC	0.647																																																0			10											64.0	61.0	62.0					10																	103906948		2203	4300	6503	103896938	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4199G>A	10.37:g.103906948G>A	ENSP00000278070:p.Arg1400Gln		103896938	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.R1400Q	ENST00000278070.2	37	c.4199	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224302	0.39300	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.32272	1.86;1.46	5.04	0.759	0.18438	.	0.975986	0.08438	N	0.945801	T	0.13243	0.0321	N	0.03115	-0.41	0.80722	D	1	B;B	0.22346	0.068;0.041	B;B	0.12837	0.008;0.003	T	0.08351	-1.0726	10	0.33940	T	0.23	.	7.1879	0.25809	0.2822:0.1122:0.6056:0.0	.	1280;1400	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Q	1400;367	ENSP00000278070:R1400Q;ENSP00000359029:R367Q	ENSP00000278070:R1400Q	R	+	2	0	PPRC1	103896938	0.164000	0.22935	0.972000	0.41901	0.995000	0.86356	0.551000	0.23361	0.034000	0.15491	0.462000	0.41574	CGG	-	NULL		0.647	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	protein_coding	OTTHUMT00000050021.1	G	NM_015062		103896938	+1	no_errors	NM_015062	genbank	human	reviewed	54_36p	missense	SNP	0.267	A
IGHG1	3500	genome.wustl.edu	37	14	106208411	106208411	+	RNA	SNP	G	G	A	rs184594692	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:106208411G>A	ENST00000390548.2	-	0	488							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTCCACGCCGTCCACGTACC	0.607													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18995	0.0		0.0	False		,,,				2504	0.001															0			14											160.0	151.0	154.0					14																	106208411		2173	4250	6423	105279456			0			J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208411G>A			105279456		Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC	p.T163M	ENST00000390548.2	37	c.488		14																																																																																			-	superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407		0.607	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IGHM	IG_C_gene	OTTHUMT00000326504.1	G	NG_001019		105279456	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390548	ensembl	human	known	54_36p	missense	SNP	0.000	A
MRPS17P9	359760	genome.wustl.edu	37	X	118513696	118513696	+	RNA	SNP	G	G	A	rs183014448		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chrX:118513696G>A	ENST00000413240.1	-	0	491																											TCGTTTATCCGTCCATGCCAA	0.473													G|||	1	0.000264901	0.0	0.0	3775	,	,		14054	0.0		0.001	False		,,,				2504	0.0															0			X											59.0	56.0	57.0					X																	118513696		876	1991	2867	118397724			203427																															X.37:g.118513696G>A			118397724		Missense_Mutation	SNP	superfamily_Nucleic_acid_OB,HMMPfam_Ribosomal_S17	p.V8I	ENST00000413240.1	37	c.22		X																																																																																			-	NULL		0.473	RP5-1139I1.2-001	KNOWN	basic	antisense	SLC25A43	antisense	OTTHUMT00000058025.1	G			118397724	+1	no_errors	ENST00000371617	ensembl	human	known	54_36p	missense	SNP	0.895	A
GLT1D1	144423	genome.wustl.edu	37	12	129467530	129467530	+	Silent	SNP	C	C	T	rs78799732	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:129467530C>T	ENST00000442111.2	+	12	1024	c.936C>T	c.(934-936)atC>atT	p.I312I	GLT1D1_ENST00000281703.6_Silent_p.I232I|GLT1D1_ENST00000542193.1_Silent_p.I229I|GLT1D1_ENST00000537468.1_Silent_p.I317I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	312					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAAAGGAAATCGTAGTGAACG	0.438													T|||	35	0.00698882	0.0257	0.0014	5008	,	,		22717	0.0		0.0	False		,,,				2504	0.0															0			12						T		99,4307	817.0+/-416.3	1,97,2105	193.0	175.0	181.0		696	-4.8	0.0	12	dbSNP_132	181	0,8600		0,0,4300	no	coding-synonymous	GLT1D1	NM_144669.1		1,97,6405	TT,TC,CC		0.0,2.2469,0.7612		232/267	129467530	99,12907	2203	4300	6503	128033483	SO:0001819	synonymous_variant	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.936C>T	12.37:g.129467530C>T			128033483	Q86XG8	Silent	SNP	superfamily_SSF53756,HMMPfam_Glycos_transf_1	p.I232	ENST00000442111.2	37	c.696		12																																																																																			-	superfamily_SSF53756,HMMPfam_Glycos_transf_1		0.438	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	protein_coding	OTTHUMT00000399740.1	C	NM_144669		128033483	+1	no_errors	NM_144669	genbank	human	provisional	54_36p	silent	SNP	0.006	T
ZER1	10444	genome.wustl.edu	37	9	131513531	131513531	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr9:131513531T>G	ENST00000291900.2	-	7	1461	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	352					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTGCTCTTCGTTTTTGTCACC	0.592																																																0			9											98.0	82.0	88.0					9																	131513531		2203	4300	6503	130553352	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1055A>C	9.37:g.131513531T>G	ENSP00000291900:p.Asn352Thr		130553352	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_SSF52047,superfamily_ARM-type_fold	p.N352T	ENST00000291900.2	37	c.1055	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151163	0.57151	.	.	ENSG00000160445	ENST00000291900	T	0.07216	3.21	5.24	5.24	0.73138	Armadillo-type fold (1);	0.092181	0.64402	D	0.000001	T	0.17534	0.0421	L	0.41906	1.305	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.10314	-1.0635	10	0.12766	T	0.61	-17.5206	14.3759	0.66874	0.0:0.0:0.0:1.0	.	352	Q7Z7L7	ZER1_HUMAN	T	352	ENSP00000291900:N352T	ENSP00000291900:N352T	N	-	2	0	ZER1	130553352	1.000000	0.71417	0.921000	0.36526	0.290000	0.27261	7.499000	0.81566	2.011000	0.59026	0.254000	0.18369	AAC	-	superfamily_ARM-type_fold		0.592	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	protein_coding	OTTHUMT00000054491.1	T	NM_006336		130553352	-1	no_errors	NM_006336	genbank	human	provisional	54_36p	missense	SNP	0.997	G
PCDHB4	56131	genome.wustl.edu	37	5	140502691	140502691	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr5:140502691G>A	ENST00000194152.1	+	1	1111	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	371	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAATTCGAGATAGAGATTC	0.403																																																0			5											95.0	103.0	100.0					5																	140502691		2203	4300	6503	140482875	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1111G>A	5.37:g.140502691G>A	ENSP00000194152:p.Asp371Asn		140482875	Q4V761	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.D371N	ENST00000194152.1	37	c.1111	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383313	0.82792	.	.	ENSG00000081818	ENST00000194152	T	0.61627	0.09	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88032	0.6328	H	0.99909	4.93	0.52501	D	0.999956	D	0.89917	1.0	D	0.97110	1.0	D	0.94043	0.7311	9	0.87932	D	0	.	17.5731	0.87940	0.0:0.0:1.0:0.0	.	371	Q9Y5E5	PCDB4_HUMAN	N	371	ENSP00000194152:D371N	ENSP00000194152:D371N	D	+	1	0	PCDHB4	140482875	1.000000	0.71417	0.952000	0.39060	0.846000	0.48090	9.535000	0.98064	2.454000	0.82982	0.655000	0.94253	GAT	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.403	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	G	NM_018938		140482875	+1	no_errors	NM_018938	genbank	human	reviewed	54_36p	missense	SNP	0.987	A
LYPD6B	130576	genome.wustl.edu	37	2	150061920	150061920	+	Splice_Site	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:150061920T>G	ENST00000409029.1	+	4	359		c.e4+2		LYPD6B_ENST00000498249.1_Splice_Site|LYPD6B_ENST00000280115.7_Splice_Site|LYPD6B_ENST00000409642.3_Splice_Site|LYPD6B_ENST00000409876.1_Splice_Site			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCTCGACCGTAAGTAGTGGT	0.463																																																0			2											233.0	225.0	227.0					2																	150061920		1938	4132	6070	149770166	SO:0001630	splice_region_variant	130576				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.157+2T>G	2.37:g.150061920T>G			149770166	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Splice_Site	SNP	-	e3+2	ENST00000409029.1	37	c.229+2		2	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857752	0.71834	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7711	0.63026	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LYPD6B	149770166	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.912000	0.69948	2.194000	0.70268	0.533000	0.62120	.	-	-		0.463	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	LYPD6B	protein_coding	OTTHUMT00000332299.2	T	NM_177964	Intron	149770166	+1	no_errors	NM_177964	genbank	human	provisional	54_36p	splice_site	SNP	1.000	G
GABRE	2564	genome.wustl.edu	37	X	151124290	151124290	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chrX:151124290C>T	ENST00000370328.3	-	7	880	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	GABRE_ENST00000370325.1_Missense_Mutation_p.R276Q|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	276					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATAGCCAAACCGCCTGCTCAC	0.493																																																0			X											174.0	135.0	148.0					X																	151124290		2203	4300	6503	150874946	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.827G>A	X.37:g.151124290C>T	ENSP00000359353:p.Arg276Gln		150874946	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.R276Q	ENST00000370328.3	37	c.827	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477869	0.44044	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79352	-1.26;-1.26	5.8	1.34	0.21922	Neurotransmitter-gated ion-channel ligand-binding (2);	0.491787	0.16960	N	0.192533	T	0.60353	0.2262	N	0.25332	0.735	0.26439	N	0.975802	B	0.30281	0.275	B	0.21151	0.033	T	0.44298	-0.9337	10	0.37606	T	0.19	.	8.7875	0.34830	0.0:0.6:0.0:0.4	.	276	P78334	GBRE_HUMAN	Q	276	ENSP00000359353:R276Q;ENSP00000359350:R276Q	ENSP00000359350:R276Q	R	-	2	0	GABRE	150874946	0.012000	0.17670	0.000000	0.03702	0.840000	0.47671	0.868000	0.27982	-0.193000	0.10415	-0.295000	0.09555	CGG	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	protein_coding	OTTHUMT00000060903.1	C	NM_004961, NM_021990, NM_021984		150874946	-1	no_errors	NM_004961	genbank	human	reviewed	54_36p	missense	SNP	0.507	T
SLC22A3	6581	genome.wustl.edu	37	6	160829887	160829887	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr6:160829887T>C	ENST00000275300.2	+	4	943	c.791T>C	c.(790-792)aTc>aCc	p.I264T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.I264T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	264					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCCTACTTCATCCCCAACTGG	0.408																																																0			6											140.0	129.0	133.0					6																	160829887		2203	4300	6503	160749877	SO:0001583	missense	6581			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.791T>C	6.37:g.160829887T>C	ENSP00000275300:p.Ile264Thr		160749877	Q5SYN6|Q9UP02	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1	p.I264T	ENST00000275300.2	37	c.791	CCDS5277.1	6	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939406	0.52972	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60672	0.17;0.17	5.89	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.137429	0.47093	N	0.000246	T	0.44603	0.1301	M	0.75777	2.31	0.49582	D	0.999808	B	0.22080	0.064	B	0.29077	0.098	T	0.52147	-0.8614	10	0.66056	D	0.02	.	9.9129	0.41417	0.0:0.0774:0.0:0.9226	.	264	O75751	S22A3_HUMAN	T	264	ENSP00000275300:I264T;ENSP00000375989:I264T	ENSP00000275300:I264T	I	+	2	0	SLC22A3	160749877	0.975000	0.34042	0.963000	0.40424	0.996000	0.88848	4.613000	0.61176	1.091000	0.41335	0.529000	0.55759	ATC	-	superfamily_MFS general substrate transporter,HMMPfam_MFS_1		0.408	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC22A3	protein_coding	OTTHUMT00000042953.1	T	NM_021977		160749877	+1	no_errors	NM_021977	genbank	human	reviewed	54_36p	missense	SNP	0.996	C
FAP	2191	genome.wustl.edu	37	2	163099434	163099434	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:163099434G>A	ENST00000188790.4	-	2	282	c.75C>T	c.(73-75)gtC>gtT	p.V25V	FAP_ENST00000443424.1_Silent_p.V25V|FAP_ENST00000493182.1_5'Flank	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAGGGCGTAAGACAATGCACA	0.388																																																0			2											111.0	94.0	100.0					2																	163099434		2203	4300	6503	162807680	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.75C>T	2.37:g.163099434G>A			162807680		Silent	SNP	superfamily_SSF82171,HMMPfam_DPPIV_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER	p.V25	ENST00000188790.4	37	c.75	CCDS33311.1	2																																																																																			-	NULL		0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	protein_coding	OTTHUMT00000332852.2	G			162807680	-1	no_errors	NM_004460	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
BCHE	590	genome.wustl.edu	37	3	165548009	165548009	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr3:165548009C>A	ENST00000264381.3	-	2	979	c.813G>T	c.(811-813)acG>acT	p.T271T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	271			T -> M (in BChE deficiency; allele fluoride-1; dbSNP:rs28933389). {ECO:0000269|PubMed:11928765, ECO:0000269|PubMed:1415224}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTAAGTTCAACGTTCTGTTCC	0.403																																																0			3											99.0	103.0	102.0					3																	165548009		2203	4299	6502	167030703	SO:0001819	synonymous_variant	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.813G>T	3.37:g.165548009C>A			167030703	A8K7P8	Silent	SNP	HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,HMMPfam_AChE_tetra	p.T271	ENST00000264381.3	37	c.813	CCDS3198.1	3																																																																																			-	HMMPfam_COesterase,superfamily_SSF53474		0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	protein_coding	OTTHUMT00000350254.1	C			167030703	-1	no_errors	NM_000055	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
NUP35	129401	genome.wustl.edu	37	2	184024217	184024217	+	Splice_Site	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:184024217G>A	ENST00000295119.4	+	8	843	c.740G>A	c.(739-741)aGt>aAt	p.S247N	NUP35_ENST00000409798.1_Splice_Site_p.S230N|NUP35_ENST00000541912.1_Splice_Site_p.S112N	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	247	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTCTCCAGAGTGTTATGGAA	0.328																																																0			2											103.0	99.0	100.0					2																	184024217		2203	4300	6503	183732462	SO:0001630	splice_region_variant	129401			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.739-1G>A	2.37:g.184024217G>A			183732462	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	HMMPfam_MPPN	p.S247N	ENST00000295119.4	37	c.740	CCDS2290.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533470	0.45073	.	.	ENSG00000163002	ENST00000409798;ENST00000295119;ENST00000541912	.	.	.	5.44	1.45	0.22620	.	0.039336	0.85682	N	0.000000	T	0.55146	0.1902	M	0.77820	2.39	0.44771	D	0.997771	B	0.06786	0.001	B	0.13407	0.009	T	0.44159	-0.9346	9	0.18276	T	0.48	.	6.699	0.23215	0.2171:0.1337:0.6492:0.0	.	247	Q8NFH5	NUP53_HUMAN	N	230;247;112	.	ENSP00000295119:S247N	S	+	2	0	NUP35	183732462	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.197000	0.32211	0.614000	0.30107	0.585000	0.79938	AGT	-	HMMPfam_MPPN		0.328	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	protein_coding	OTTHUMT00000255865.1	G	NM_138285	Missense_Mutation	183732462	+1	no_errors	NM_138285	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MUC4	4585	genome.wustl.edu	37	3	195507228	195507228	+	Missense_Mutation	SNP	G	G	C	rs375915811|rs74187968		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr3:195507228G>C	ENST00000463781.3	-	2	11682	c.11223C>G	c.(11221-11223)caC>caG	p.H3741Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H3741Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGACGTGACCTGTGG	0.582																																																1	Substitution - Missense(1)	kidney(1)	3											26.0	26.0	26.0					3																	195507228		668	1583	2251	196992007	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11223C>G	3.37:g.195507228G>C	ENSP00000417498:p.His3741Gln		196992007	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin	p.H3613Q	ENST00000463781.3	37	c.10839	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	7.779	0.709128	0.15239	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.52;1.44	0.885	-1.56	0.08532	.	0.000000	0.25267	U	0.031920	T	0.16514	0.0397	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	P	0.45071	0.468	T	0.25328	-1.0135	9	.	.	.	.	5.328	0.15917	0.2604:0.0:0.7396:0.0	.	3613	E7ESK3	.	Q	3741	ENSP00000417498:H3741Q;ENSP00000420243:H3741Q	.	H	-	3	2	MUC4	196992007	0.000000	0.05858	0.032000	0.17829	0.049000	0.14656	0.317000	0.19487	-0.535000	0.06307	0.064000	0.15345	CAC	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	G	NM_018406		196992007	-1	no_errors	ENST00000405167	ensembl	human	known	54_36p	missense	SNP	0.042	C
NMUR1	10316	genome.wustl.edu	37	2	232393125	232393125	+	Silent	SNP	G	G	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:232393125G>T	ENST00000305141.4	-	2	740	c.607C>A	c.(607-609)Cgg>Agg	p.R203R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	203				R -> Q (in Ref. 3; AAH36543). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.R203W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCAGCTGCCGGATGCCGTGC	0.677																																																1	Substitution - Missense(1)	endometrium(1)	2											29.0	28.0	29.0					2																	232393125		2202	4299	6501	232101369	SO:0001819	synonymous_variant	10316			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.607C>A	2.37:g.232393125G>T			232101369	O43664|Q7LDP6|Q8NE20	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R203	ENST00000305141.4	37	c.607	CCDS2486.1	2																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.677	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR1	protein_coding	OTTHUMT00000256961.1	G	NM_006056		232101369	-1	no_errors	NM_006056	genbank	human	validated	54_36p	silent	SNP	0.000	T
