#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
PTDSS2	81490	genome.wustl.edu	37	11	479122	479122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr11:479122C>A	ENST00000308020.5	+	4	581	c.405C>A	c.(403-405)taC>taA	p.Y135*	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	135					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GTGTGGTCTACGAGCTGTTTC	0.542																																																0			11											330.0	294.0	306.0					11																	479122		2203	4300	6503	469122	SO:0001587	stop_gained	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.405C>A	11.37:g.479122C>A	ENSP00000308258:p.Tyr135*		469122		Nonsense_Mutation	SNP	HMMPfam_PSS	p.Y135*	ENST00000308020.5	37	c.405	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.156207	0.94686	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.45	2.56	0.30785	.	0.167110	0.41396	D	0.000890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4839	6.7932	0.23711	0.0:0.5735:0.0:0.4265	.	.	.	.	X	135	.	ENSP00000308258:Y135X	Y	+	3	2	PTDSS2	469122	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.317000	0.19487	0.439000	0.26476	0.555000	0.69702	TAC	-	HMMPfam_PSS		0.542	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	protein_coding	OTTHUMT00000239301.2	C			469122	+1	no_errors	NM_030783	genbank	human	provisional	54_36p	nonsense	SNP	1.000	A
TULP3	7289	genome.wustl.edu	37	12	3047447	3047447	+	Silent	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:3047447T>C	ENST00000448120.2	+	10	1242	c.1191T>C	c.(1189-1191)aaT>aaC	p.N397N	TULP3_ENST00000397132.2_Silent_p.N397N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	397					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCACAAAAATGACCGTAAGC	0.532																																																0			12											70.0	71.0	71.0					12																	3047447		2203	4300	6503	2917708	SO:0001819	synonymous_variant	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1191T>C	12.37:g.3047447T>C			2917708	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2	p.N397	ENST00000448120.2	37	c.1191	CCDS8519.1	12	.	.	.	.	.	.	.	.	.	.	t	9.057	0.993640	0.19043	.	.	ENSG00000078246	ENST00000541678;ENST00000538704	.	.	.	5.2	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.9463	8.6791	0.34198	0.0:0.1556:0.0:0.8444	.	.	.	.	R	74;63	.	.	X	+	1	0	TULP3	2917708	0.978000	0.34361	0.880000	0.34516	0.889000	0.51656	0.096000	0.15147	0.312000	0.23038	0.529000	0.55759	TGA	-	superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub		0.532	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	protein_coding	OTTHUMT00000398468.1	T	NM_003324		2917708	+1	no_errors	NM_003324	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
ATRN	8455	genome.wustl.edu	37	20	3564634	3564634	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:3564634T>G	ENST00000262919.5	+	17	2922	c.2854T>G	c.(2854-2856)Tgc>Ggc	p.C952G	ATRN_ENST00000446916.2_Missense_Mutation_p.C952G	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	952	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCATGTGGTGCAGCAACAT	0.547																																																0			20											363.0	294.0	317.0					20																	3564634		2203	4300	6503	3512634	SO:0001583	missense	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2854T>G	20.37:g.3564634T>G	ENSP00000262919:p.Cys952Gly		3512634	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,HMMPfam_PSI,HMMSmart_SM00423,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1	p.C952G	ENST00000262919.5	37	c.2854	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531614	0.85706	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.31769	2.35;1.48	5.64	5.64	0.86602	.	0.105254	0.64402	D	0.000001	T	0.61776	0.2374	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68996	-0.5262	10	0.72032	D	0.01	-14.5845	15.5155	0.75822	0.0:0.0:0.0:1.0	.	952;952	O75882;O75882-2	ATRN_HUMAN;.	G	952;952;878	ENSP00000262919:C952G;ENSP00000416587:C952G	ENSP00000262919:C952G	C	+	1	0	ATRN	3512634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.137000	0.66172	0.477000	0.44152	TGC	-	HMMPfam_PSI,HMMSmart_SM00423		0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	T	NM_139321		3512634	+1	no_errors	NM_139321	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PXDC1	221749	genome.wustl.edu	37	6	3723966	3723966	+	Nonsense_Mutation	SNP	C	C	A	rs200793898		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr6:3723966C>A	ENST00000380283.4	-	5	1077	c.583G>T	c.(583-585)Gag>Tag	p.E195*	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	195							phosphatidylinositol binding (GO:0035091)										CTGCCATTCTCAAATCTGAAA	0.537																																																0			6											87.0	84.0	85.0					6																	3723966		2203	4300	6503	3668965	SO:0001587	stop_gained	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.583G>T	6.37:g.3723966C>A	ENSP00000369636:p.Glu195*		3668965	A8K0N3|Q6PGP0|Q86XB7	Nonsense_Mutation	SNP	superfamily_PX	p.E195*	ENST00000380283.4	37	c.583	CCDS4486.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.752443|8.752443	0.98939|0.98939	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.235220|.	0.44902|.	D|.	0.000410|.	.|T	.|0.68833	.|0.3044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66567	.|-0.5891	.|4	0.31617|.	T|.	0.26|.	-32.5024|-32.5024	18.5146|18.5146	0.90931|0.90931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	195|142	.|.	ENSP00000369636:E195X|.	E|L	-|-	1|3	0|2	C6orf145|C6orf145	3668965|3668965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	6.688000|6.688000	0.74557|0.74557	2.662000|2.662000	0.90505|0.90505	0.555000|0.555000	0.69702|0.69702	GAG|TTG	-	NULL		0.537	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf145	protein_coding	OTTHUMT00000039688.1	C	NM_183373		3668965	-1	no_errors	NM_183373	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
SLC29A4	222962	genome.wustl.edu	37	7	5338994	5338994	+	Missense_Mutation	SNP	T	T	C	rs372350514		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr7:5338994T>C	ENST00000396872.3	+	9	1306	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	SLC29A4_ENST00000297195.4_Missense_Mutation_p.I382T|SLC29A4_ENST00000406453.3_Missense_Mutation_p.I368T|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	382					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGCCACTGCATCCTGGGCGAG	0.652																																																0			7						T	THR/ILE,THR/ILE	0,4406		0,0,2203	62.0	43.0	50.0		1145,1145	3.3	1.0	7		50	1,8599		0,1,4299	no	missense,missense	SLC29A4	NM_001040661.1,NM_153247.2	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	382/531,382/531	5338994	1,13005	2203	4300	6503	5305520	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1145T>C	7.37:g.5338994T>C	ENSP00000380081:p.Ile382Thr		5305520	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran	p.I382T	ENST00000396872.3	37	c.1145	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	2.680	-0.275614	0.05679	0.0	1.16E-4	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80566	-1.39;-1.39;-1.39	4.48	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.260691	0.35646	N	0.003061	T	0.38878	0.1057	N	0.00325	-1.645	0.24718	N	0.993167	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.44802	-0.9304	10	0.07990	T	0.79	0.0841	2.8551	0.05570	0.0:0.3623:0.0:0.6377	.	368;382	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	T	382;382;368	ENSP00000380081:I382T;ENSP00000297195:I382T;ENSP00000385845:I368T	ENSP00000297195:I382T	I	+	2	0	SLC29A4	5305520	0.994000	0.37717	0.998000	0.56505	0.976000	0.68499	2.894000	0.48640	1.658000	0.50742	0.353000	0.21931	ATC	-	superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran		0.652	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	protein_coding	OTTHUMT00000060118.6	T	NM_153247		5305520	+1	no_errors	NM_001040661	genbank	human	reviewed	54_36p	missense	SNP	0.990	C
TP53	7157	genome.wustl.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000420246.2_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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"""	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	17											46.0	47.0	47.0					17																	7578535		2203	4300	6503	7519260	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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg		7519260	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.K132R	ENST00000269305.4	37	c.395	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7519260	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KIF1B	23095	genome.wustl.edu	37	1	10357119	10357119	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:10357119C>G	ENST00000377086.1	+	21	2228	c.2026C>G	c.(2026-2028)Caa>Gaa	p.Q676E	KIF1B_ENST00000377093.4_Missense_Mutation_p.Q630E|KIF1B_ENST00000263934.6_Missense_Mutation_p.Q630E|KIF1B_ENST00000377081.1_Missense_Mutation_p.Q676E|KIF1B_ENST00000377083.1_Missense_Mutation_p.Q630E|RNU6-37P_ENST00000362692.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B	676					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGATATGAAACAAGAGATGGA	0.403																																																0			1											39.0	41.0	40.0					1																	10357119		2203	4300	6503	10279706	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2026C>G	1.37:g.10357119C>G	ENSP00000366290:p.Gln676Glu		10279706	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.Q630E	ENST00000377086.1	37	c.1888		1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157985	0.57368	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	L	0.35723	1.085	0.80722	D	1	B;B;D;B;P;P;B	0.61080	0.059;0.029;0.989;0.129;0.934;0.726;0.029	B;B;D;B;P;B;B	0.72338	0.068;0.027;0.977;0.046;0.53;0.265;0.039	T	0.66352	-0.5945	10	0.02654	T	1	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	662;636;676;650;676;630;630	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	E	676;630;630;676;630;676	ENSP00000263934:Q630E;ENSP00000366297:Q630E;ENSP00000366290:Q676E;ENSP00000366287:Q630E;ENSP00000366284:Q676E	ENSP00000263934:Q630E	Q	+	1	0	KIF1B	10279706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CAA	-	NULL		0.403	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	C			10279706	+1	no_errors	NM_015074	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TNFRSF8	943	genome.wustl.edu	37	1	12144524	12144524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:12144524C>T	ENST00000263932.2	+	2	289	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	23					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGCCAGGATCGACCCTTCGA	0.592																																																0			1											89.0	78.0	82.0					1																	12144524		2203	4300	6503	12067111	SO:0001587	stop_gained	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.67C>T	1.37:g.12144524C>T	ENSP00000263932:p.Arg23*		12067111	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1	p.R23*	ENST00000263932.2	37	c.67	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	c	19.95	3.921294	0.73213	.	.	ENSG00000120949	ENST00000263932	.	.	.	4.21	3.28	0.37604	.	1.035080	0.07720	N	0.943408	.	.	.	.	.	.	0.25600	N	0.98661	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.1639	9.3999	0.38426	0.2125:0.7875:0.0:0.0	.	.	.	.	X	23	.	ENSP00000263932:R23X	R	+	1	2	TNFRSF8	12067111	0.159000	0.22864	0.255000	0.24374	0.091000	0.18340	0.538000	0.23160	1.322000	0.45245	0.558000	0.71614	CGA	-	NULL		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	protein_coding	OTTHUMT00000005130.1	C			12067111	+1	no_errors	NM_001243	genbank	human	reviewed	54_36p	nonsense	SNP	0.009	T
MRC1	4360	genome.wustl.edu	37	10	17927405	17927405	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr10:17927405G>T	ENST00000331429.2	+	22	3210	c.3107G>T	c.(3106-3108)gGt>gTt	p.G1036V																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGGGAAAGGTTACCCTGGT	0.463																																																0			10											6.0	7.0	7.0					10																	17927405		1966	4155	6121	17967411	SO:0001583	missense	414308																														ENST00000331429.2:c.3107G>T	10.37:g.17927405G>T	ENSP00000332124:p.Gly1036Val		17967411		Missense_Mutation	SNP	superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.G1036V	ENST00000331429.2	37	c.3107		10	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615878	0.66672	.	.	ENSG00000183748	ENST00000331429	T	0.26067	1.76	3.83	3.83	0.44106	.	0.000000	0.56097	U	0.000039	T	0.47229	0.1434	.	.	.	0.44275	D	0.997131	D	0.89917	1.0	D	0.77004	0.989	T	0.54384	-0.8302	8	0.34782	T	0.22	-20.5375	15.0833	0.72130	0.0:0.0:1.0:0.0	.	1036	B9EJA8	.	V	1036	ENSP00000332124:G1036V	ENSP00000332124:G1036V	G	+	2	0	AL928580.1	17967411	1.000000	0.71417	0.935000	0.37517	0.982000	0.71751	7.184000	0.77705	2.127000	0.65507	0.508000	0.49915	GGT	-	superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C		0.463	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	MRC1L1	protein_coding	OTTHUMT00000047054.1	G			17967411	+1	no_errors	NM_001009567	genbank	human	reviewed	54_36p	missense	SNP	0.995	T
TERF1P5	283523	genome.wustl.edu	37	13	19255004	19255004	+	IGR	SNP	G	G	A	rs550586322|rs370486627	byFrequency	TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr13:19255004G>A								LINC00387 (4701 upstream) : LINC00418 (37902 downstream)																							AACCCTTGATGCACAGTTTGA	0.383																																																0			13																																								18153004	SO:0001628	intergenic_variant	283523																															13.37:g.19255004G>A			18153004		Missense_Mutation	SNP	superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding	p.A154T		37	c.460		13																																																																																			-	superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF	0	0.383					LOC283523			G			18153004	+1	pseudogene	XM_001714856	genbank	human	model	54_36p	missense	SNP	0.981	A
CENPIP1	100419337	genome.wustl.edu	37	13	19705747	19705747	+	IGR	SNP	A	A	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr13:19705747A>T								RNA5SP24 (43026 upstream) : RNU6-52P (11374 downstream)																							CACAATTCCAAACTGACATTT	0.323																																																0			13																																								18603747	SO:0001628	intergenic_variant	0																															13.37:g.19705747A>T			18603747		Missense_Mutation	SNP	HMMPfam_Mis6	p.Q198H		37	c.594		13																																																																																			-	NULL	0	0.323					LOC100128765			A			18603747	+1	no_errors	XM_001714904	genbank	human	model	54_36p	missense	SNP	0.006	T
CHEK2P2	646096	genome.wustl.edu	37	15	20488868	20488868	+	RNA	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:20488868C>A	ENST00000555186.1	+	0	351					NR_038836.1				checkpoint kinase 2 pseudogene 2																		CTGGGTATAACCGTGCTGTGG	0.443																																																0			15																																								18748882			646096					15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488868C>A			18748882		RNA	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			-	-		0.443	CHEK2P2-002	KNOWN	basic	processed_transcript	LOC646096	pseudogene	OTTHUMT00000414654.1	C	NR_038836		18748882	+1	no_errors	XR_040858	genbank	human	model	54_36p	rna	SNP	0.889	A
RPS7P10	100128060	genome.wustl.edu	37	13	22202777	22202777	+	IGR	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr13:22202777G>A								MICU2 (24424 upstream) : FGF9 (42744 downstream)																							GGATGGCATCGTGCACAGCTG	0.473																																																0			13																																								21100777	SO:0001628	intergenic_variant	0																															13.37:g.22202777G>A			21100777		Silent	SNP	HMMPfam_Ribosomal_S7e,PatternScan_RIBOSOMAL_S7E	p.H126		37	c.378		13																																																																																			-	HMMPfam_Ribosomal_S7e	0	0.473					LOC100128060			G			21100777	-1	pseudogene	XM_001718205	genbank	human	model	54_36p	silent	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	29416200	29416200	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:29416200C>T	ENST00000389048.3	-	29	5659	c.4753G>A	c.(4753-4755)Ggc>Agc	p.G1585S	ALK_ENST00000431873.1_Missense_Mutation_p.G415S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1585					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCTGGTAGCCGTAATTGACA	0.537			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											76.0	73.0	74.0					2																	29416200		2203	4300	6503	29269704	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4753G>A	2.37:g.29416200C>T	ENSP00000373700:p.Gly1585Ser		29269704	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.G1585S	ENST00000389048.3	37	c.4753	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.592756	0.96602	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.56103	0.48;0.48	4.69	4.69	0.59074	.	0.000000	0.48767	D	0.000165	T	0.69913	0.3164	M	0.65975	2.015	0.54753	D	0.999986	D	0.89917	1.0	D	0.68621	0.959	T	0.70040	-0.4981	10	0.39692	T	0.17	.	17.9949	0.89179	0.0:1.0:0.0:0.0	.	1585	Q9UM73	ALK_HUMAN	S	1585;415	ENSP00000373700:G1585S;ENSP00000414027:G415S	ENSP00000373700:G1585S	G	-	1	0	ALK	29269704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.916000	0.69981	2.320000	0.78422	0.462000	0.41574	GGC	-	NULL		0.537	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29269704	-1	no_errors	NM_004304	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CNBD2	140894	genome.wustl.edu	37	20	34618402	34618402	+	Silent	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:34618402G>A	ENST00000373973.3	+	12	1736	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Silent_p.K517K			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	521																	GGCCCAAGAAGAGAGAGATCT	0.488																																																0			20											155.0	142.0	146.0					20																	34618402		2203	4300	6503	34081816	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1563G>A	20.37:g.34618402G>A			34081816	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1	p.K517	ENST00000373973.3	37	c.1551		20																																																																																			-	NULL		0.488	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf152	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34081816	+1	no_errors	NM_080834	genbank	human	predicted	54_36p	silent	SNP	0.222	A
LMBRD2	92255	genome.wustl.edu	37	5	36123028	36123028	+	Silent	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:36123028G>A	ENST00000296603.4	-	8	1320	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	286						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCATCCATGTTCCTACCCA	0.249																																																0			5											81.0	82.0	82.0					5																	36123028		2202	4290	6492	36158785	SO:0001819	synonymous_variant	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.858C>T	5.37:g.36123028G>A			36158785	B3KRB6|Q9NTC7	Silent	SNP	HMMPfam_LMBR1	p.N286	ENST00000296603.4	37	c.858	CCDS34145.1	5																																																																																			-	HMMPfam_LMBR1		0.249	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	protein_coding	OTTHUMT00000367552.1	G	NM_001007527		36158785	-1	no_errors	NM_001007527	genbank	human	validated	54_36p	silent	SNP	1.000	A
AGO3	192669	genome.wustl.edu	37	1	36492752	36492752	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:36492752G>T	ENST00000373191.4	+	12	1793	c.1444G>T	c.(1444-1446)Gca>Tca	p.A482S	AGO3_ENST00000246314.6_Missense_Mutation_p.A248S	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	482					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTCTAAGGATGCAGGGATGCC	0.473																																																0			1											103.0	107.0	106.0					1																	36492752		2203	4300	6503	36265339	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1444G>T	1.37:g.36492752G>T	ENSP00000362287:p.Ala482Ser		36265339	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	HMMPfam_DUF1785,superfamily_SSF101690,HMMPfam_PAZ,superfamily_RNaseH_fold,HMMPfam_Piwi	p.A482S	ENST00000373191.4	37	c.1444	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180275	0.57800	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05447	3.44;3.44	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.55017	1.72	0.80722	D	1	B	0.22003	0.063	B	0.28011	0.085	T	0.23048	-1.0199	10	0.13108	T	0.6	-23.9001	19.3346	0.94309	0.0:0.0:1.0:0.0	.	482	Q9H9G7	AGO3_HUMAN	S	482;248	ENSP00000362287:A482S;ENSP00000246314:A248S	ENSP00000246314:A248S	A	+	1	0	EIF2C3	36265339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.822000	0.99363	2.549000	0.85964	0.650000	0.86243	GCA	-	NULL		0.473	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	protein_coding	OTTHUMT00000019831.4	G	NM_024852		36265339	+1	no_errors	NM_024852	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PLCG1	5335	genome.wustl.edu	37	20	39791295	39791295	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:39791295G>A	ENST00000373271.1	+	6	1016	c.611G>A	c.(610-612)cGc>cAc	p.R204H	PLCG1_ENST00000373272.2_Missense_Mutation_p.R204H|PLCG1_ENST00000244007.3_Missense_Mutation_p.R204H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	204					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGGAGCAGCGCAGCGGGGAC	0.627																																																0			20											58.0	43.0	48.0					20																	39791295		2203	4300	6503	39224709	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.611G>A	20.37:g.39791295G>A	ENSP00000362368:p.Arg204His		39224709	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.R204H	ENST00000373271.1	37	c.611	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148155	0.57151	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.42513	0.97;0.97;0.97	5.09	5.09	0.68999	EF-hand-like domain (1);	0.222920	0.41294	D	0.000919	T	0.37046	0.0989	L	0.59436	1.845	0.80722	D	1	P;P	0.41475	0.573;0.751	B;B	0.29598	0.072;0.104	T	0.33497	-0.9866	10	0.30854	T	0.27	.	18.4943	0.90858	0.0:0.0:1.0:0.0	.	204;204	P19174;A2A284	PLCG1_HUMAN;.	H	204	ENSP00000244007:R204H;ENSP00000362368:R204H;ENSP00000362369:R204H	ENSP00000244007:R204H	R	+	2	0	PLCG1	39224709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.064000	0.93933	2.376000	0.81061	0.561000	0.74099	CGC	-	superfamily_SSF47473		0.627	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	protein_coding	OTTHUMT00000080514.3	G	NM_182811		39224709	+1	no_errors	NM_002660	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
C9	735	genome.wustl.edu	37	5	39288941	39288941	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:39288941C>A	ENST00000263408.4	-	10	1624	c.1529G>T	c.(1528-1530)tGc>tTc	p.C510F		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	510	EGF-like.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATGTGTGGCATTTTCTTAC	0.363																																																0			5											159.0	150.0	153.0					5																	39288941		2203	4300	6503	39324698	SO:0001583	missense	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1529G>T	5.37:g.39288941C>A	ENSP00000263408:p.Cys510Phe		39324698		Missense_Mutation	SNP	superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_Ldl_recept_a,superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,superfamily_SSF57196,PatternScan_EGF_2,PatternScan_EGF_1	p.C510F	ENST00000263408.4	37	c.1529	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158801	0.78226	.	.	ENSG00000113600	ENST00000263408	D	0.90732	-2.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95118	0.8244	10	0.87932	D	0	-19.0716	19.1688	0.93569	0.0:1.0:0.0:0.0	.	510	P02748	CO9_HUMAN	F	510	ENSP00000263408:C510F	ENSP00000263408:C510F	C	-	2	0	C9	39324698	1.000000	0.71417	0.242000	0.24170	0.299000	0.27559	4.711000	0.61881	2.626000	0.88956	0.655000	0.94253	TGC	-	superfamily_SSF57196		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	C			39324698	-1	no_errors	NM_001737	genbank	human	reviewed	54_36p	missense	SNP	0.611	A
MACF1	23499	genome.wustl.edu	37	1	39920604	39920604	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:39920604C>A	ENST00000372915.3	+	88	20694	c.20607C>A	c.(20605-20607)caC>caA	p.H6869Q	MACF1_ENST00000289893.4_Missense_Mutation_p.H5413Q|MACF1_ENST00000539005.1_Missense_Mutation_p.H4781Q|MACF1_ENST00000317713.7_Missense_Mutation_p.H4911Q|MACF1_ENST00000545844.1_Missense_Mutation_p.H4911Q|MACF1_ENST00000567887.1_Missense_Mutation_p.H7007Q|MACF1_ENST00000361689.2_Missense_Mutation_p.H4911Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H6970Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6869					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAAGCAGCACCAGCAGCGTC	0.512																																																0			1											80.0	70.0	74.0					1																	39920604		2203	4300	6503	39693191	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20607C>A	1.37:g.39920604C>A	ENSP00000362006:p.His6869Gln		39693191	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2	p.H5413Q	ENST00000372915.3	37	c.16239		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.4|24.4|24.4	4.531082|4.531082|4.531082	0.85706|0.85706|0.85706	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925|ENST00000360115	T;T;T;T;T;T|.|.	0.48522|.|.	0.81;0.81;0.81;0.81;0.81;0.81|.|.	5.4|5.4|5.4	4.49|4.49|4.49	0.54785|0.54785|0.54785	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000007|.|.	T|T|T	0.62011|0.62011|0.62011	0.2393|0.2393|0.2393	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	0.998;1.0|.|.	D;D|.|.	0.97110|.|.	0.985;1.0|.|.	T|T|T	0.59600|0.59600|0.59600	-0.7424|-0.7424|-0.7424	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	13.9009|13.9009|13.9009	0.63802|0.63802|0.63802	0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733	.|.|.	6869;4911|.|.	Q9UPN3;F8W8Q1|.|.	MACF1_HUMAN;.|.|.	Q|T|N	4911;6869;4911;4911;4781;5413|3915|13	ENSP00000439537:H4911Q;ENSP00000362006:H6869Q;ENSP00000354573:H4911Q;ENSP00000313438:H4911Q;ENSP00000444364:H4781Q;ENSP00000289893:H5413Q|.|.	ENSP00000289893:H5413Q|.|.	H|P|T	+|+|+	3|1|2	2|0|0	MACF1|MACF1|MACF1	39693191|39693191|39693191	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	2.629000|2.629000|2.629000	0.46485|0.46485|0.46485	1.273000|1.273000|1.273000	0.44346|0.44346|0.44346	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCA|ACC	-	HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39693191	+1	no_errors	NM_033044	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NPHS1	4868	genome.wustl.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	19						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	90.0	92.0		2399	3.4	0.2	19	dbSNP_134	92	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/1242	36333388	1,13005	2203	4300	6503	41025228	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2399G>A	19.37:g.36333388C>T	ENSP00000368190:p.Arg800His		41025228	A6NDH2|C3RX61	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.R800H	ENST00000378910.5	37	c.2399	CCDS32996.1	19	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.629	-0.818010	0.02776	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78707	-1.2;-1.2	4.46	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340502	0.29791	N	0.011187	T	0.76912	0.4054	M	0.65498	2.005	0.09310	N	0.999992	D	0.55385	0.971	P	0.49597	0.616	T	0.65990	-0.6034	10	0.25751	T	0.34	-1.0032	8.212	0.31488	0.0:0.8912:0.0:0.1088	.	800	O60500	NPHN_HUMAN	H	800	ENSP00000368190:R800H;ENSP00000343634:R800H	ENSP00000343634:R800H	R	-	2	0	NPHS1	41025228	0.000000	0.05858	0.179000	0.23059	0.016000	0.09150	0.127000	0.15790	1.117000	0.41842	0.558000	0.71614	CGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	C			41025228	-1	no_errors	NM_004646	genbank	human	validated	54_36p	missense	SNP	0.989	T
MMP9	4318	genome.wustl.edu	37	20	44641960	44641960	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:44641960C>T	ENST00000372330.3	+	9	1416	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCTCCCCCGACGGTCTGCCCC	0.682											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	large_intestine(1)	20											44.0	59.0	54.0					20																	44641960		2186	4273	6459	44075367	SO:0001583	missense	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1397C>T	20.37:g.44641960C>T	ENSP00000361405:p.Thr466Met	925	44075367	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	"superfamily_PGBD-like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_PT,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN"	p.T466M	ENST00000372330.3	37	c.1397	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938940	0.34189	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22134	1.97	4.63	3.62	0.41486	.	.	.	.	.	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.50231	0.635	T	0.11494	-1.0585	9	0.45353	T	0.12	.	13.8455	0.63466	0.1634:0.8366:0.0:0.0	.	466	P14780	MMP9_HUMAN	M	466;111	ENSP00000361405:T466M	ENSP00000361405:T466M	T	+	2	0	MMP9	44075367	0.002000	0.14202	0.027000	0.17364	0.157000	0.22087	0.842000	0.27627	2.376000	0.81061	0.655000	0.94253	ACG	-	NULL		0.682	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	protein_coding	OTTHUMT00000080337.1	C			44075367	+1	no_errors	NM_004994	genbank	human	reviewed	54_36p	missense	SNP	0.011	T
WFIKKN2	124857	genome.wustl.edu	37	17	48917361	48917361	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:48917361C>T	ENST00000311378.4	+	2	1240	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGGCCGGCCCCGGCCTGAGAT	0.622																																																0			17											85.0	85.0	85.0					17																	48917361		2203	4300	6503	46272360	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.712C>T	17.37:g.48917361C>T	ENSP00000311184:p.Arg238Trp		46272360	Q6UXZ9	Missense_Mutation	SNP	PatternScan_KAZAL,superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_SSF100895,HMMPfam_Kazal_2,HMMSmart_KAZAL,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_TIMP_like	p.R238W	ENST00000311378.4	37	c.712	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447130	0.63178	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.67865	-0.29;-0.29	5.44	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.400107	0.25500	N	0.030250	T	0.81044	0.4741	M	0.81239	2.535	0.41341	D	0.987307	D	0.76494	0.999	D	0.70935	0.971	D	0.83514	0.0082	10	0.72032	D	0.01	.	12.7882	0.57518	0.4465:0.5535:0.0:0.0	.	238	Q8TEU8	WFKN2_HUMAN	W	145;238	ENSP00000405889:R145W;ENSP00000311184:R238W	ENSP00000311184:R238W	R	+	1	2	WFIKKN2	46272360	0.968000	0.33430	1.000000	0.80357	0.983000	0.72400	2.244000	0.43124	1.253000	0.44018	0.651000	0.88453	CGG	-	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2		0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	protein_coding	OTTHUMT00000368358.1	C	NM_175575		46272360	+1	no_errors	NM_175575	genbank	human	reviewed	54_36p	missense	SNP	0.986	T
ASIC1	41	genome.wustl.edu	37	12	50453612	50453612	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:50453612C>T	ENST00000447966.2	+	3	662	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	ASIC1_ENST00000228468.4_Missense_Mutation_p.R145C	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	145					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	AGCCAACTTCCGCAGCTTCAA	0.562																																																0			12											142.0	112.0	122.0					12																	50453612		2203	4300	6503	48739879	SO:0001583	missense	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.433C>T	12.37:g.50453612C>T	ENSP00000400228:p.Arg145Cys		48739879	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	HMMPfam_ASC,PatternScan_ASC	p.R145C	ENST00000447966.2	37	c.433	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724052	0.89298	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64438	-0.1;-0.1	5.03	5.03	0.67393	.	0.221567	0.35235	N	0.003357	T	0.69015	0.3064	L	0.38175	1.15	0.80722	D	1	D;D	0.64830	0.98;0.994	P;P	0.57720	0.826;0.764	T	0.71679	-0.4520	10	0.66056	D	0.02	-19.3213	19.2452	0.93899	0.0:1.0:0.0:0.0	.	145;145	P78348;P78348-1	ACCN2_HUMAN;.	C	145	ENSP00000228468:R145C;ENSP00000400228:R145C	ENSP00000228468:R145C	R	+	1	0	ACCN2	48739879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.100000	0.41777	2.732000	0.93576	0.655000	0.94253	CGC	-	HMMPfam_ASC		0.562	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCN2	protein_coding	OTTHUMT00000406004.2	C	NM_020039		48739879	+1	no_errors	NM_020039	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54825129	54825129	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:54825129T>C	ENST00000260323.11	+	25	5561	c.5561T>C	c.(5560-5562)aTt>aCt	p.I1854T	UNC13C_ENST00000545554.1_Missense_Mutation_p.I1854T|UNC13C_ENST00000537900.1_Missense_Mutation_p.I1852T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1854					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGTTATAATTGAAGAGTGT	0.323																																																0			15											43.0	40.0	41.0					15																	54825129		1787	4051	5838	52612421	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5561T>C	15.37:g.54825129T>C	ENSP00000260323:p.Ile1854Thr		52612421	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD	p.I1854T	ENST00000260323.11	37	c.5561	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305982	0.60305	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13538	2.58;2.58;2.58	5.59	4.46	0.54185	.	0.113673	0.64402	D	0.000020	T	0.15696	0.0378	M	0.68952	2.095	0.45946	D	0.998775	P	0.43094	0.799	B	0.37650	0.255	T	0.01935	-1.1244	10	0.42905	T	0.14	.	10.8725	0.46891	0.0:0.0741:0.0:0.9259	.	1854	Q8NB66	UN13C_HUMAN	T	1854;1854;1852	ENSP00000260323:I1854T;ENSP00000438156:I1854T;ENSP00000442569:I1852T	ENSP00000260323:I1854T	I	+	2	0	UNC13C	52612421	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.805000	0.75191	0.942000	0.37525	0.459000	0.35465	ATT	-	HMMPfam_DUF1041		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	T	NM_173166		52612421	+1	no_errors	NM_001080534	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CABP5	56344	genome.wustl.edu	37	19	48537487	48537487	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:48537487T>C	ENST00000293255.2	-	5	611	c.481A>G	c.(481-483)Aca>Gca	p.T161A		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AAGTCAACTGTGCCGTCTCCA	0.602																																																0			19											51.0	42.0	45.0					19																	48537487		2203	4300	6503	53229299	SO:0001583	missense	56344			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.481A>G	19.37:g.48537487T>C	ENSP00000293255:p.Thr161Ala		53229299	A0AUY4	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.T161A	ENST00000293255.2	37	c.481	CCDS12709.1	19	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193461	0.22037	.	.	ENSG00000105507	ENST00000293255	T	0.71817	-0.6	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	N	0.11698	0.16	0.48511	D	0.99966	B	0.28760	0.221	B	0.39771	0.309	T	0.62091	-0.6927	10	0.72032	D	0.01	-17.25	9.2677	0.37652	0.0:0.0:0.1817:0.8183	.	161	Q9NP86	CABP5_HUMAN	A	161	ENSP00000293255:T161A	ENSP00000293255:T161A	T	-	1	0	CABP5	53229299	0.037000	0.19845	0.997000	0.53966	0.707000	0.40811	0.120000	0.15647	2.031000	0.59945	0.459000	0.35465	ACA	-	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1		0.602	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	protein_coding	OTTHUMT00000465212.1	T	NM_019855		53229299	-1	no_errors	NM_019855	genbank	human	reviewed	54_36p	missense	SNP	0.571	C
OR8K5	219453	genome.wustl.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																																1	Substitution - Missense(1)	lung(1)	11											85.0	80.0	82.0					11																	55927085		2201	4296	6497	55683661	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>T	11.37:g.55927085C>A	ENSP00000323853:p.Ala237Ser		55683661	Q6IFB5	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A237S	ENST00000313447.1	37	c.709	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	c	11.86	1.765018	0.31228	.	.	ENSG00000181752	ENST00000313447	T	0.00359	7.87	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.00496	0.0016	M	0.93939	3.475	0.28586	N	0.909891	P	0.36768	0.569	B	0.35770	0.21	T	0.03587	-1.1022	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	S	237	ENSP00000323853:A237S	ENSP00000323853:A237S	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55683661	-1	no_errors	NM_001004058	genbank	human	validated	54_36p	missense	SNP	0.994	A
FAM81A	145773	genome.wustl.edu	37	15	59752330	59752330	+	Silent	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:59752330C>T	ENST00000288228.5	+	3	406	c.219C>T	c.(217-219)cgC>cgT	p.R73R		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	73										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAGGTGACCGCTTGGCCAGGC	0.473																																																0			15											115.0	115.0	115.0					15																	59752330		1910	4108	6018	57539622	SO:0001819	synonymous_variant	145773				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.219C>T	15.37:g.59752330C>T			57539622		Silent	SNP	NULL	p.R73	ENST00000288228.5	37	c.219	CCDS45269.1	15																																																																																			-	NULL		0.473	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	protein_coding	OTTHUMT00000415876.1	C	NM_152450		57539622	+1	no_errors	NM_152450	genbank	human	validated	54_36p	silent	SNP	0.937	T
CDH4	1002	genome.wustl.edu	37	20	60498678	60498678	+	Missense_Mutation	SNP	G	G	T	rs202235537		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:60498678G>T	ENST00000360469.5	+	10	1632	c.1544G>T	c.(1543-1545)cGc>cTc	p.R515L	CDH4_ENST00000543233.1_Missense_Mutation_p.R441L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	515	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAGCTGATCCGCCTGGAGGAG	0.612																																																0			20											69.0	59.0	62.0					20																	60498678		2203	4300	6503	59932073	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1544G>T	20.37:g.60498678G>T	ENSP00000353656:p.Arg515Leu		59932073	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.R515L	ENST00000360469.5	37	c.1544	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796267	0.70567	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.72118	2.19	0.58432	D	0.999992	D	0.53619	0.961	P	0.60012	0.867	T	0.67122	-0.5750	9	.	.	.	.	17.6758	0.88230	0.0:0.0:1.0:0.0	.	515	P55283	CADH4_HUMAN	L	515;423;441	ENSP00000353656:R515L;ENSP00000443301:R441L	.	R	+	2	0	CDH4	59932073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.491000	0.60326	2.162000	0.67917	0.543000	0.68304	CGC	-	superfamily_Cadherin,HMMPfam_Cadherin		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	G	NM_001794		59932073	+1	no_errors	NM_001794	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GP6	51206	genome.wustl.edu	37	19	55525787	55525787	+	3'UTR	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:55525787G>A	ENST00000417454.1	-	0	1549				GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.T509M	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGCAAGACCCGTTCTGAGAGA	0.493																																																0			19											127.0	122.0	124.0					19																	55525787		1946	4146	6092	60217599	SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*502C>T	19.37:g.55525787G>A			60217599	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.T509M	ENST00000417454.1	37	c.1526	CCDS46184.1	19	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267363	0.23136	.	.	ENSG00000088053	ENST00000310373	T	0.00543	6.68	1.56	-2.92	0.05615	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.10450	0.005	T	0.44112	-0.9349	8	0.87932	D	0	.	2.116	0.03713	0.4264:0.0:0.3249:0.2488	.	509	Q9HCN6-3	.	M	509	ENSP00000308782:T509M	ENSP00000308782:T509M	T	-	2	0	GP6	60217599	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.580000	0.05827	-0.950000	0.03659	-0.258000	0.10820	ACG	-	NULL		0.493	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	protein_coding	OTTHUMT00000357006.1	G			60217599	-1	no_errors	NM_001083899	genbank	human	validated	54_36p	missense	SNP	0.007	A
ZNF17	7565	genome.wustl.edu	37	19	57932163	57932163	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:57932163G>C	ENST00000601808.1	+	3	1516	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	ZNF17_ENST00000307658.7_Missense_Mutation_p.V437L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCATCAGAGAGTTCATACTGG	0.393																																					Melanoma(149;1637 1853 29914 42869 44988)											0			19											78.0	82.0	81.0					19																	57932163		2192	4297	6489	62623975	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1303G>C	19.37:g.57932163G>C	ENSP00000471905:p.Val435Leu		62623975	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2	p.V435L	ENST00000601808.1	37	c.1303	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492441	0.44352	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.02	-1.43	0.08884	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	L	0.37630	1.12	0.22479	N	0.999065	D;B	0.53151	0.958;0.141	P;B	0.47430	0.547;0.012	T	0.15780	-1.0425	8	0.51188	T	0.08	.	3.8961	0.09139	0.5278:0.1975:0.2747:0.0	.	437;435	P17021-2;P17021	.;ZNF17_HUMAN	L	435	.	ENSP00000302455:V435L	V	+	1	0	ZNF17	62623975	0.000000	0.05858	0.409000	0.26459	0.785000	0.44390	-0.333000	0.07894	-0.189000	0.10482	0.655000	0.94253	GTT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.393	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	protein_coding	OTTHUMT00000466384.1	G	NM_006959		62623975	+1	no_errors	NM_006959	genbank	human	validated	54_36p	missense	SNP	0.036	C
DCK	1633	genome.wustl.edu	37	4	71889369	71889369	+	Silent	SNP	A	A	G	rs576990251		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr4:71889369A>G	ENST00000286648.5	+	4	892	c.495A>G	c.(493-495)caA>caG	p.Q165Q	DCK_ENST00000504730.1_Silent_p.Q165Q|DCK_ENST00000504952.1_Silent_p.Q165Q	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	165					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TGAATAACCAATTTGGCCAAA	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		16279	0.0		0.0	False		,,,				2504	0.001															0			4											89.0	93.0	92.0					4																	71889369		2203	4300	6503	72108233	SO:0001819	synonymous_variant	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.495A>G	4.37:g.71889369A>G			72108233	B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	superfamily_SSF52540,HMMPfam_dNK	p.Q165	ENST00000286648.5	37	c.495	CCDS3548.1	4																																																																																			-	superfamily_SSF52540,HMMPfam_dNK		0.333	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	protein_coding	OTTHUMT00000252159.2	A			72108233	+1	no_errors	NM_000788	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78320488	78320488	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:78320488G>A	ENST00000582970.1	+	29	8496	c.8353G>A	c.(8353-8355)Gcc>Acc	p.A2785T	RNF213_ENST00000508628.2_Missense_Mutation_p.A2834T|RNF213_ENST00000336301.6_Missense_Mutation_p.A858T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2785					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGTGGCAGACGCCATGCAGGG	0.622																																																0			17											29.0	28.0	28.0					17																	78320488		2203	4300	6503	75935083	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8353G>A	17.37:g.78320488G>A	ENSP00000464087:p.Ala2785Thr		75935083	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.A858T	ENST00000582970.1	37	c.2572	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096955	0.37048	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.31247	1.5	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	M	0.67397	2.05	0.48696	D	0.999696	D	0.63046	0.992	P	0.52758	0.708	T	0.46555	-0.9183	10	0.62326	D	0.03	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	858	Q63HN8	RN213_HUMAN	T	2785;2834;858	ENSP00000338218:A858T	ENSP00000338218:A858T	A	+	1	0	RNF213	75935083	1.000000	0.71417	0.966000	0.40874	0.164000	0.22412	9.712000	0.98738	2.751000	0.94390	0.563000	0.77884	GCC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75935083	+1	no_errors	NM_020914	genbank	human	validated	54_36p	missense	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82786148	82786148	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:82786148T>A	ENST00000265077.3	+	3	867	c.302T>A	c.(301-303)gTg>gAg	p.V101E	VCAN_ENST00000502527.2_Missense_Mutation_p.V101E|VCAN_ENST00000342785.4_Missense_Mutation_p.V101E|VCAN_ENST00000512590.2_Missense_Mutation_p.V53E|VCAN_ENST00000513984.1_Missense_Mutation_p.V101E|VCAN_ENST00000343200.5_Missense_Mutation_p.V101E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	101	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGGGAGAGTGTCTGTGCCC	0.493																																																0			5											142.0	132.0	136.0					5																	82786148		2203	4300	6503	82821904	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.302T>A	5.37:g.82786148T>A	ENSP00000265077:p.Val101Glu		82821904	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.V101E	ENST00000265077.3	37	c.302	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146010	0.57044	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.78	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.247082	0.28989	N	0.013487	T	0.60470	0.2271	M	0.91249	3.19	0.47308	D	0.999385	D;P;D;D;D	0.89917	0.999;0.919;0.992;1.0;0.996	D;P;D;D;D	0.87578	0.978;0.807;0.925;0.998;0.965	T	0.64271	-0.6447	10	0.87932	D	0	.	10.0592	0.42263	0.0:0.1368:0.0:0.8632	.	101;101;101;101;101	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	E	101;101;101;53;101;101;101	ENSP00000265077:V101E;ENSP00000340062:V101E;ENSP00000342768:V101E;ENSP00000425959:V53E;ENSP00000426251:V101E;ENSP00000426715:V101E;ENSP00000421362:V101E	ENSP00000265077:V101E	V	+	2	0	VCAN	82821904	1.000000	0.71417	0.631000	0.29282	0.271000	0.26615	4.805000	0.62561	0.450000	0.26774	0.533000	0.62120	GTG	-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82821904	+1	no_errors	NM_004385	genbank	human	validated	54_36p	missense	SNP	0.981	A
AMY2B	280	genome.wustl.edu	37	1	104114357	104114357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:104114357C>T	ENST00000361355.4	+	3	749	c.133C>T	c.(133-135)Cga>Tga	p.R45*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	45					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGAATGTGAGCGATATTTAGC	0.413																																																0			1											127.0	123.0	124.0					1																	104114357		2202	4280	6482	103915880	SO:0001587	stop_gained	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.133C>T	1.37:g.104114357C>T	ENSP00000354610:p.Arg45*		103915880	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Nonsense_Mutation	SNP	superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C	p.R45*	ENST00000361355.4	37	c.133	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.382822	0.98786	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	.	.	.	4.85	2.89	0.33648	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.944	0.64073	0.2461:0.7539:0.0:0.0	.	.	.	.	X	45	.	ENSP00000354610:R45X	R	+	1	2	AMY2B	103915880	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	1.846000	0.39289	0.398000	0.25338	0.585000	0.79938	CGA	-	superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	C	NM_020978		103915880	+1	no_errors	NM_020978	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
ELOVL3	83401	genome.wustl.edu	37	10	103988731	103988731	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr10:103988731G>A	ENST00000370005.3	+	4	756	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	179					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TGGTGTTCATGCCATCATGTA	0.517																																																0			10											134.0	122.0	126.0					10																	103988731		2203	4300	6503	103978721	SO:0001583	missense	83401			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.535G>A	10.37:g.103988731G>A	ENSP00000359022:p.Ala179Thr		103978721	Q5VZL3|Q8N180	Missense_Mutation	SNP	HMMPfam_ELO,PatternScan_ELO	p.A179T	ENST00000370005.3	37	c.535	CCDS7531.1	10	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507107	0.44558	.	.	ENSG00000119915	ENST00000370005	T	0.24151	1.87	5.58	-0.049	0.13837	.	0.324668	0.26549	N	0.023745	T	0.23727	0.0574	L	0.57536	1.79	0.36783	D	0.884424	B	0.30114	0.269	B	0.33568	0.166	T	0.14117	-1.0484	10	0.30078	T	0.28	-30.8719	10.1236	0.42637	0.0661:0.0:0.3488:0.5851	.	179	Q9HB03	ELOV3_HUMAN	T	179	ENSP00000359022:A179T	ENSP00000359022:A179T	A	+	1	0	ELOVL3	103978721	0.346000	0.24844	0.136000	0.22124	0.401000	0.30781	0.357000	0.20199	-0.004000	0.14419	-0.182000	0.12963	GCC	-	HMMPfam_ELO		0.517	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL3	protein_coding	OTTHUMT00000050030.1	G	NM_152310		103978721	+1	no_errors	NM_152310	genbank	human	provisional	54_36p	missense	SNP	0.988	A
AHNAK2	113146	genome.wustl.edu	37	14	105418827	105418827	+	Silent	SNP	G	G	A	rs371134105		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr14:105418827G>A	ENST00000333244.5	-	7	3080	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	987						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCTTGTCGGCCAGGGACA	0.617																																																0			14											229.0	257.0	248.0					14																	105418827		2036	4171	6207	104489872	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2961C>T	14.37:g.105418827G>A			104489872	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin	p.A987	ENST00000333244.5	37	c.2961	CCDS45177.1	14																																																																																			-	NULL		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420		104489872	-1	no_errors	NM_138420	genbank	human	validated	54_36p	silent	SNP	0.000	A
ZGRF1	55345	genome.wustl.edu	37	4	113486605	113486605	+	Intron	SNP	A	A	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr4:113486605A>T	ENST00000505019.1	-	17	4564					NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN								integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		aaaaaaaaaaattCTCTTCTT	0.358																																																0			4																																								113706054	SO:0001627	intron_variant	728914																														ENST00000505019.1:c.4439-2175T>A	4.37:g.113486605A>T			113706054	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	RNA	SNP	-	NULL	ENST00000505019.1	37	NULL		4																																																																																			-	-		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	LOC728914	protein_coding	OTTHUMT00000256413.1	A			113706054	+1	pseudogene	XR_015818	genbank	human	model	54_36p	rna	SNP	0.919	T
THOC2	57187	genome.wustl.edu	37	X	122800995	122800995	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chrX:122800995G>C	ENST00000245838.8	-	11	1183	c.1152C>G	c.(1150-1152)tgC>tgG	p.C384W	THOC2_ENST00000491737.1_Missense_Mutation_p.C269W|THOC2_ENST00000355725.4_Missense_Mutation_p.C384W	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	384					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAATGAGCTTGCAAATAGCAA	0.368																																																0			X											142.0	123.0	129.0					X																	122800995		1886	4091	5977	122628676	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1152C>G	X.37:g.122800995G>C	ENSP00000245838:p.Cys384Trp		122628676	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	NULL	p.C384W	ENST00000245838.8	37	c.1152	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737586	0.69304	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.79587	0.4471	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.98;0.989	T	0.80358	-0.1416	9	0.38643	T	0.18	-5.1352	11.6554	0.51315	0.084:0.0:0.916:0.0	.	305;384	B4DKZ6;Q8NI27	.;THOC2_HUMAN	W	384;384;269;305	.	ENSP00000245838:C384W	C	-	3	2	THOC2	122628676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.921000	0.48852	2.302000	0.77476	0.591000	0.81541	TGC	-	NULL		0.368	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	protein_coding	OTTHUMT00000058153.3	G			122628676	-1	no_errors	NM_001081550	genbank	human	validated	54_36p	missense	SNP	1.000	C
GOLGA1	2800	genome.wustl.edu	37	9	127674206	127674206	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr9:127674206C>T	ENST00000373555.4	-	11	1276	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	315					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGCAAGTGTTCTTCTCCTGAT	0.443																																																0			9											238.0	210.0	220.0					9																	127674206		2203	4300	6503	126714027	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.943G>A	9.37:g.127674206C>T	ENSP00000362656:p.Glu315Lys		126714027	Q5T164|Q8IYZ9	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_GRIP,HMMSmart_SM00755	p.E315K	ENST00000373555.4	37	c.943	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509600	0.85282	.	.	ENSG00000136935	ENST00000373555	T	0.79845	-1.31	5.84	5.84	0.93424	.	0.147861	0.30565	U	0.009342	D	0.83473	0.5262	M	0.76328	2.33	0.58432	D	0.999993	D;P	0.55385	0.971;0.792	P;B	0.47941	0.562;0.257	T	0.82026	-0.0661	10	0.29301	T	0.29	-10.5036	16.8557	0.86005	0.0:1.0:0.0:0.0	.	214;315	Q59HA1;Q92805	.;GOGA1_HUMAN	K	315	ENSP00000362656:E315K	ENSP00000362656:E315K	E	-	1	0	GOLGA1	126714027	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	4.685000	0.61693	2.768000	0.95171	0.643000	0.83706	GAA	-	superfamily_Prefoldin		0.443	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	protein_coding	OTTHUMT00000054049.1	C	NM_002077		126714027	-1	no_errors	NM_002077	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EP400	57634	genome.wustl.edu	37	12	132502845	132502845	+	Missense_Mutation	SNP	C	C	T	rs201961439		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:132502845C>T	ENST00000333577.4	+	22	4418	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	EP400_ENST00000389561.2_Missense_Mutation_p.R1401W|EP400_ENST00000389562.2_Missense_Mutation_p.R1400W|EP400_ENST00000332482.4_Missense_Mutation_p.R1364W|EP400_ENST00000330386.6_Missense_Mutation_p.R1401W			Q96L91	EP400_HUMAN	E1A binding protein p400	1437					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1400W(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAAGATACCGCGGAAACTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	12						C	TRP/ARG	0,4406		0,0,2203	56.0	57.0	57.0		4201	5.4	0.5	12		57	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EP400	NM_015409.4	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1401/3124	132502845	3,13003	2203	4300	6503	131068798	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4309C>T	12.37:g.132502845C>T	ENSP00000333602:p.Arg1437Trp		131068798	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,superfamily_Homeodomain_like	p.R1400W	ENST00000333577.4	37	c.4198		12	.	.	.	.	.	.	.	.	.	.	C	8.092	0.774832	0.16051	0.0	3.49E-4	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91740	-2.9;-2.89;-2.89;-2.88;-2.78	5.43	5.43	0.79202	.	0.119075	0.56097	D	0.000024	D	0.92941	0.7754	M	0.68952	2.095	0.34631	D	0.719658	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51833	0.681;0.681;0.681	D	0.95971	0.8970	10	0.87932	D	0	.	12.3901	0.55355	0.2838:0.7162:0.0:0.0	.	1401;1401;1400	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	W	1437;1401;1400;1364;1401;1401;1401	ENSP00000333602:R1437W;ENSP00000374212:R1401W;ENSP00000374213:R1400W;ENSP00000331737:R1364W;ENSP00000330620:R1401W	ENSP00000330620:R1401W	R	+	1	2	EP400	131068798	1.000000	0.71417	0.541000	0.28102	0.007000	0.05969	4.908000	0.63307	2.545000	0.85829	0.655000	0.94253	CGG	-	NULL		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		C	NM_015409		131068798	+1	no_errors	NM_015409	genbank	human	validated	54_36p	missense	SNP	0.915	T
ANKRD35	148741	genome.wustl.edu	37	1	145561930	145561930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:145561930C>T	ENST00000355594.4	+	10	1705	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	540										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGGAAGCCCGACTGGAGCG	0.637																																					Melanoma(9;127 754 22988 51047)											0			1											52.0	64.0	60.0					1																	145561930		2202	4300	6502	144273287	SO:0001587	stop_gained	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1618C>T	1.37:g.145561930C>T	ENSP00000347802:p.Arg540*		144273287	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Nonsense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.R540*	ENST00000355594.4	37	c.1618	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814565	0.50527	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	.	.	.	5.24	-0.724	0.11177	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.229	9.1456	0.36930	0.6788:0.2148:0.1063:0.0	.	.	.	.	X	449;540	.	ENSP00000347802:R540X	R	+	1	2	ANKRD35	144273287	0.915000	0.31059	0.239000	0.24122	0.257000	0.26127	0.522000	0.22909	-0.301000	0.08882	0.655000	0.94253	CGA	-	NULL		0.637	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	C	NM_144698		144273287	+1	no_errors	NM_144698	genbank	human	validated	54_36p	nonsense	SNP	0.410	T
ADGB	79747	genome.wustl.edu	37	6	147123857	147123857	+	Intron	SNP	C	C	T	rs139104643	byFrequency	TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr6:147123857C>T	ENST00000397944.3	+	35	4894				ADGB_ENST00000367493.3_Intron|ADGB_ENST00000367488.1_Intron|KATNBL1P6_ENST00000562413.2_RNA	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin						oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						AGTTCTCAGACGAGACTTTTT	0.313													C|||	118	0.0235623	0.0855	0.0072	5008	,	,		17853	0.0		0.0	False		,,,				2504	0.0															0			6																																								147165550	SO:0001627	intron_variant	729176			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.4818+710C>T	6.37:g.147123857C>T			147165550	Q5T402|Q5T904|Q5T905	RNA	SNP	-	NULL	ENST00000397944.3	37	NULL		6																																																																																			-	-		0.313	ADGB-009	KNOWN	basic|appris_principal	protein_coding	LOC729176	protein_coding	OTTHUMT00000376350.2	C	NM_024694		147165550	-1	pseudogene	NR_003954	genbank	human	validated	54_36p	rna	SNP	0.319	T
TDRKH	11022	genome.wustl.edu	37	1	151755385	151755385	+	Silent	SNP	C	C	T	rs184904531		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:151755385C>T	ENST00000368822.1	-	2	747	c.114G>A	c.(112-114)agG>agA	p.R38R	TDRKH_ENST00000458431.2_Silent_p.R38R|TDRKH_ENST00000368827.6_Silent_p.R38R|TDRKH_ENST00000368823.1_Silent_p.R38R|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Silent_p.R38R|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Silent_p.R38R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	38					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTGCTTTCCCTATACCTGC	0.468																																																0			1											117.0	119.0	118.0					1																	151755385		1895	4103	5998	150022009	SO:0001819	synonymous_variant	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.114G>A	1.37:g.151755385C>T			150022009	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333	p.R38	ENST00000368822.1	37	c.114	CCDS41394.1	1																																																																																			-	NULL		0.468	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	protein_coding	OTTHUMT00000036648.2	C	NM_006862		150022009	-1	no_errors	NM_001083963	genbank	human	validated	54_36p	silent	SNP	0.972	T
NMD3	51068	genome.wustl.edu	37	3	160945052	160945052	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:160945052G>T	ENST00000460469.1	+	3	652	c.197G>T	c.(196-198)gGa>gTa	p.G66V	NMD3_ENST00000472947.1_Missense_Mutation_p.G66V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.G66V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	66					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAACCACCAGGAACTTGGATA	0.368																																																0			3											145.0	140.0	142.0					3																	160945052		2203	4299	6502	162427746	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.197G>T	3.37:g.160945052G>T	ENSP00000419004:p.Gly66Val		162427746	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	HMMPfam_NMD3	p.G66V	ENST00000460469.1	37	c.197	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303972	0.40795	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.44881	0.92;0.93;0.91;0.91;0.91;0.91;0.92;0.91	5.63	0.2	0.15181	.	0.280474	0.39146	N	0.001449	T	0.32376	0.0827	L	0.33710	1.025	0.80722	D	1	B;B	0.27910	0.006;0.193	B;B	0.33890	0.026;0.172	T	0.10567	-1.0624	10	0.39692	T	0.17	-17.4747	12.0968	0.53758	0.0671:0.4739:0.459:0.0	.	66;66	C9JA08;Q96D46	.;NMD3_HUMAN	V	66	ENSP00000418852:G66V;ENSP00000418980:G66V;ENSP00000419030:G66V;ENSP00000307525:G66V;ENSP00000417559:G66V;ENSP00000418908:G66V;ENSP00000419647:G66V;ENSP00000419004:G66V	ENSP00000307525:G66V	G	+	2	0	NMD3	162427746	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.935000	0.28924	-0.007000	0.14345	0.591000	0.81541	GGA	-	HMMPfam_NMD3		0.368	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	protein_coding	OTTHUMT00000353114.1	G	NM_015938		162427746	+1	no_errors	NM_015938	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SLC7A14	57709	genome.wustl.edu	37	3	170216489	170216489	+	Silent	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:170216489C>T	ENST00000231706.5	-	4	1041	c.726G>A	c.(724-726)gcG>gcA	p.A242A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	242					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACTGGCCCTCCGCCCAGTATT	0.512																																																0			3											71.0	68.0	69.0					3																	170216489		2203	4300	6503	171699183	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.726G>A	3.37:g.170216489C>T			171699183	B3KV33|Q9HCF9	Silent	SNP	HMMPfam_AA_permease	p.A242	ENST00000231706.5	37	c.726	CCDS33892.1	3																																																																																			-	HMMPfam_AA_permease		0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	C	NM_020949		171699183	-1	no_errors	NM_020949	genbank	human	validated	54_36p	silent	SNP	0.949	T
ITGA6	3655	genome.wustl.edu	37	2	173352711	173352711	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:173352711G>T	ENST00000264106.6	+	19	2667	c.2464G>T	c.(2464-2466)Gct>Tct	p.A822S	ITGA6_ENST00000264107.7_Missense_Mutation_p.A783S|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.A778S|ITGA6_ENST00000375221.2_Missense_Mutation_p.A822S|ITGA6_ENST00000409080.1_Missense_Mutation_p.A783S|ITGA6_ENST00000409532.1_Missense_Mutation_p.A664S			P23229	ITA6_HUMAN	integrin, alpha 6	822					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGATAATTTGGCTCCAATTAC	0.343																																																0			2											158.0	154.0	155.0					2																	173352711		2203	4300	6503	173060957	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2464G>T	2.37:g.173352711G>T	ENSP00000264106:p.Ala822Ser		173060957	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA	p.A783S	ENST00000264106.6	37	c.2347		2	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303884	0.10678	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	6.05	5.18	0.71444	.	0.492932	0.25347	N	0.031321	T	0.25269	0.0614	N	0.16307	0.4	0.34637	D	0.720208	B;B;B;B	0.20052	0.01;0.041;0.007;0.007	B;B;B;B	0.21708	0.022;0.036;0.022;0.027	T	0.24764	-1.0151	10	0.08599	T	0.76	.	11.7426	0.51801	0.1504:0.0:0.8496:0.0	.	778;822;783;783	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	S	664;783;822;822;778;783;822;778;8	ENSP00000386614:A664S;ENSP00000264107:A783S;ENSP00000264106:A822S;ENSP00000364369:A822S;ENSP00000341078:A778S;ENSP00000386896:A783S;ENSP00000406694:A822S;ENSP00000394169:A778S;ENSP00000388435:A8S	ENSP00000264106:A822S	A	+	1	0	ITGA6	173060957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	1.565000	0.49641	0.650000	0.86243	GCT	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.343	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	protein_coding		G			173060957	+1	no_errors	NM_001079818	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
CLK4	57396	genome.wustl.edu	37	5	178050268	178050268	+	Silent	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:178050268T>C	ENST00000316308.4	-	2	318	c.150A>G	c.(148-150)aaA>aaG	p.K50K	CLK4_ENST00000520957.1_Silent_p.K50K	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	50					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AATCAGATTCTTTAAACTGGT	0.368																																																0			5											219.0	204.0	209.0					5																	178050268		2203	4300	6503	177982874	SO:0001819	synonymous_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.150A>G	5.37:g.178050268T>C			177982874		Silent	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.K50	ENST00000316308.4	37	c.150	CCDS4437.1	5																																																																																			-	NULL		0.368	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	protein_coding	OTTHUMT00000253479.2	T			177982874	-1	no_errors	NM_020666	genbank	human	reviewed	54_36p	silent	SNP	0.894	C
FAT1	2195	genome.wustl.edu	37	4	187534326	187534326	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr4:187534326C>A	ENST00000441802.2	-	13	9609	c.9400G>T	c.(9400-9402)Gtg>Ttg	p.V3134L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3134	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTCAAACACGGTGATGGCA	0.547										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											83.0	89.0	87.0					4																	187534326		2025	4194	6219	187771320	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9400G>T	4.37:g.187534326C>A	ENSP00000406229:p.Val3134Leu		187771320		Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL	p.V3134L	ENST00000441802.2	37	c.9400	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741373	0.69304	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55234	0.53	5.05	5.05	0.67936	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	L	0.56199	1.76	0.80722	D	1	B	0.28820	0.224	B	0.42188	0.379	T	0.56836	-0.7913	10	0.34782	T	0.22	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	3134	Q14517	FAT1_HUMAN	L	3134;3136	ENSP00000406229:V3134L	ENSP00000260147:V3136L	V	-	1	0	FAT1	187771320	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.638000	0.83328	2.636000	0.89361	0.655000	0.94253	GTG	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin		0.547	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245		187771320	-1	no_errors	NM_005245	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
NRROS	375387	genome.wustl.edu	37	3	196387868	196387868	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:196387868C>T	ENST00000328557.4	+	3	1557	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	452					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCGGGTGGGCCCCCCTAGCTG	0.577																																																0			3											120.0	125.0	123.0					3																	196387868		2203	4300	6503	197872265	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1354C>T	3.37:g.196387868C>T	ENSP00000328625:p.Pro452Ser		197872265		Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP	p.P452S	ENST00000328557.4	37	c.1354	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	C	0	-2.699087	0.00097	.	.	ENSG00000174004	ENST00000328557	T	0.46819	0.86	5.4	-5.99	0.02213	.	1.490080	0.03602	N	0.233595	T	0.36358	0.0964	L	0.55990	1.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.09843	T	0.71	.	7.5387	0.27725	0.4482:0.1158:0.3782:0.0578	.	452	Q86YC3	LRC33_HUMAN	S	452	ENSP00000328625:P452S	ENSP00000328625:P452S	P	+	1	0	LRRC33	197872265	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.027000	0.00639	-1.682000	0.01446	-1.114000	0.02060	CCC	-	superfamily_SSF52058		0.577	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC33	protein_coding	OTTHUMT00000340676.1	C	NM_198565		197872265	+1	no_errors	NM_198565	genbank	human	provisional	54_36p	missense	SNP	0.000	T
DGKD	8527	genome.wustl.edu	37	2	234297007	234297007	+	Silent	SNP	G	G	T	rs370379069		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:234297007G>T	ENST00000264057.2	+	2	273	c.261G>T	c.(259-261)acG>acT	p.T87T	DGKD_ENST00000409813.3_Silent_p.T43T|DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGCCAAAACGGCAAAGGTGA	0.522																																																0			2											79.0	74.0	75.0					2																	234297007		2203	4300	6503	233961746	SO:0001819	synonymous_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.261G>T	2.37:g.234297007G>T			233961746	Q14158|Q6PK55|Q8NG53	Silent	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2	p.T87	ENST00000264057.2	37	c.261	CCDS2504.1	2																																																																																			-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.522	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	protein_coding	OTTHUMT00000257072.2	G	NM_003648		233961746	+1	no_errors	NM_152879	genbank	human	reviewed	54_36p	silent	SNP	0.481	T
FBXL12	54850	genome.wustl.edu	37	19	9931254	9931261	+	5'Flank	DEL	ATATACAC	ATATACAC	-	rs71188840|rs375527443|rs368108275		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	ATATACAC	ATATACAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:9931254_9931261delATATACAC	ENST00000247977.4	-	0	0				FBXL12_ENST00000589626.1_5'Flank|FBXL12_ENST00000586469.1_5'Flank|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000586073.1_5'Flank|FBXL12_ENST00000588922.1_5'Flank|FBXL12_ENST00000585379.1_Intron|FBXL12_ENST00000592067.1_5'Flank|FBXL12_ENST00000586651.1_5'Flank|AC008752.1_ENST00000401283.1_RNA	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						atatatatatatataCACACACACACAC	0.447																																																0			19																																								9792261	SO:0001631	upstream_gene_variant	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8			19.37:g.9931254_9931261delATATACAC	Exception_encountered		9792254	B3KSJ8|Q9H5K4	RNA	DEL	-	NULL	ENST00000247977.4	37	NULL	CCDS12218.1	19																																																																																			(deletion:rna[9792204,9792281])	-		0.447	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216102	protein_coding	OTTHUMT00000450265.1	ATATACAC	NM_017703		9792261	+1	no_errors	ENST00000401283	ensembl	human	novel	54_36p	rna	DEL	0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000	-
SLC30A5	64924	genome.wustl.edu	37	5	68423854	68423856	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	ATC	ATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:68423854_68423856delATC	ENST00000396591.3	+	15	2632_2634	c.2022_2024delATC	c.(2020-2025)atatca>ata	p.S675del	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	675					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAGGATTAATATCATACCGAGAC	0.369																																																0			5																																								68459612	SO:0001651	inframe_deletion	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2022_2024delATC	5.37:g.68423854_68423856delATC	ENSP00000379836:p.Ser675del		68459610	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	In_Frame_Del	DEL	HMMPfam_Cation_efflux	p.S675in_frame_del	ENST00000396591.3	37	c.2022_2024	CCDS3996.1	5																																																																																			(deletion:cds_exon[68459587,68459715])	HMMPfam_Cation_efflux		0.369	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	protein_coding	OTTHUMT00000254017.2	ATC			68459612	+1	no_errors	NM_022902	genbank	human	provisional	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	14	94832648	94832648	+	IGR	DEL	G	G	-	rs149961411	byFrequency	TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr14:94832648delG								SERPINA6 (42917 upstream) : SERPINA1 (10435 downstream)																							GGCCTGCTGAGGGCTTGGAGA	0.542													GGG|GGG|GG|deletion	343	0.0684904	0.0136	0.2349	5008	,	,		20016	0.002		0.0736	False		,,,				2504	0.0879															0			14																																								93902401	SO:0001628	intergenic_variant	390502																															14.37:g.94832648delG			93902401		Frame_Shift_Del	DEL	superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093	p.L127fs		37	c.379		14																																																																																			(deletion:cds_exon[93902129,93902563])	superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093	0	0.542					SERPINA2			G			93902401	-1	no_start_codon	ENST00000238576	ensembl	human	known	54_36p	frame_shift_del	DEL	0.006	-
SYNM	23336	genome.wustl.edu	37	15	99653898	99653900	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	AGT	AGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:99653898_99653900delAGT	ENST00000560674.1	+	2	524_526	c.55_57delAGT	c.(55-57)agtdel	p.S19del	SYNM_ENST00000336292.6_In_Frame_Del_p.S304del|SYNM_ENST00000328642.7_In_Frame_Del_p.S304del|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	305	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGGCCTCAGTCTGGAGGTGG	0.581																																					Pancreas(125;1071 1762 21750 40003 40381)											0			15																																								97471423	SO:0001651	inframe_deletion	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.55_57delAGT	15.37:g.99653898_99653900delAGT	ENSP00000453040:p.Ser19del		97471421	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	In_Frame_Del	DEL	HMMPfam_Filament,PatternScan_IF	p.S304in_frame_del	ENST00000560674.1	37	c.910_912		15																																																																																			(deletion:cds_exon[97471319,97471443])	HMMPfam_Filament		0.581	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	protein_coding	OTTHUMT00000415698.2	AGT	NM_145728		97471423	+1	no_errors	ENST00000336292	ensembl	human	known	54_36p	in_frame_del	DEL	1.000:1.000:0.999	-
MFSD4	148808	genome.wustl.edu	37	1	205568306	205568307	+	Frame_Shift_Ins	INS	-	-	TTTG			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:205568306_205568307insTTTG	ENST00000367147.4	+	9	1509_1510	c.1416_1417insTTTG	c.(1417-1419)tttfs	p.-473fs	MFSD4_ENST00000478555.1_3'UTR|MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.-386fs|MFSD4_ENST00000539267.1_3'UTR	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGGCGTGATCTTTGGTTGTCT	0.46																																																0			1																																								203834930	SO:0001589	frameshift_variant	148808			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1417_1420dupTTTG	1.37:g.205568307_205568310dupTTTG	ENSP00000356115:p.Phe473fs		203834929	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Frame_Shift_Ins	INS	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.G473fs	ENST00000367147.4	37	c.1416_1417	CCDS1455.1	1																																																																																			-	superfamily_MFS_gen_substrate_transporter		0.460	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	protein_coding	OTTHUMT00000090391.1	-	NM_181644		203834930	+1	no_errors	NM_181644	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TTTG
