#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ATRN	8455	genome.wustl.edu	37	20	3559378	3559378	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr20:3559378G>C	ENST00000262919.5	+	15	2571	c.2503G>C	c.(2503-2505)Gtc>Ctc	p.V835L	ATRN_ENST00000446916.2_Missense_Mutation_p.V835L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	835	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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						GGTAGAATTTGTCCTTAAGCA	0.403																																						dbGAP											0													86.0	81.0	83.0					20																	3559378		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2503G>C	20.37:g.3559378G>C	ENSP00000262919:p.Val835Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.V835L	ENST00000262919.5	37	c.2503	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031034	0.93575	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.50277	0.75;0.75	5.56	5.56	0.83823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.060254	0.64402	D	0.000003	T	0.60958	0.2309	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.98;0.996	P;D	0.77557	0.893;0.99	T	0.51284	-0.8725	10	0.17369	T	0.5	-15.8332	19.1289	0.93397	0.0:0.0:1.0:0.0	.	835;835	O75882;O75882-2	ATRN_HUMAN;.	L	835;835;761	ENSP00000262919:V835L;ENSP00000416587:V835L	ENSP00000262919:V835L	V	+	1	0	ATRN	3507378	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.630000	0.83225	2.621000	0.88768	0.655000	0.94253	GTC	ATRN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000088812		0.403	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	118	0.00	0	G	NM_139321		3559378	3559378	+1	no_errors	ENST00000262919	ensembl	human	known	69_37n	missense	160	16.67	32	SNP	1.000	C
CROCCP2	84809	genome.wustl.edu	37	1	16950880	16950880	+	lincRNA	SNP	T	T	C	rs1629127	byFrequency	TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr1:16950880T>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCGGGCCACTTGCCCCAGCGT	0.701																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950880T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.701	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	9	0.00	0	T	NR_026752.1		16950880	16950880	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	37	17.78	8	SNP	0.238	C
FAM111B	374393	genome.wustl.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						dbGAP											3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(2)|ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2G2|Q6P661	Frame_Shift_Del	DEL	superfamily_Pept_cys/ser_Trypsin-like	p.K272fs	ENST00000343597.3	37	c.807	CCDS7972.1	11																																																																																			FAM111B	-	NULL	ENSG00000189057		0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	52	0.00	0	A	NM_198947		58892377	58892377	+1	no_errors	ENST00000343597	ensembl	human	known	69_37n	frame_shift_del	16	15.00	3	DEL	0.000	-
SPATA31D5P	347127	genome.wustl.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCTTTGTGTCCCCTTTGGCTT	0.532																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530475C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	359	0.00	0	C	NR_026851		84530475	84530475	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	271	35.63	150	SNP	0.005	T
FLII	2314	genome.wustl.edu	37	17	18157896	18157896	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr17:18157896G>A	ENST00000327031.4	-	6	739	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	FLII_ENST00000579294.1_Missense_Mutation_p.R161C|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Intron|FLII_ENST00000578558.1_Missense_Mutation_p.R172C|FLII_ENST00000379450.4_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	172	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGCACCAGGCGGCGCATCTGC	0.642																																						dbGAP											0													44.0	42.0	43.0					17																	18157896		2202	4300	6502	-	-	-	SO:0001583	missense	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.514C>T	17.37:g.18157896G>A	ENSP00000324573:p.Arg172Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.R172C	ENST00000327031.4	37	c.514	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.083500	0.94050	.	.	ENSG00000177731	ENST00000327031;ENST00000545457	T	0.57595	0.39	5.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	L	0.48935	1.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.69712	-0.5071	10	0.87932	D	0	-26.4132	16.4284	0.83832	0.0:0.131:0.869:0.0	.	172;172;141	F5H407;Q13045;B4DIX0	.;FLII_HUMAN;.	C	172	ENSP00000324573:R172C	ENSP00000324573:R172C	R	-	1	0	FLII	18098621	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.674000	0.98633	2.597000	0.87782	0.655000	0.94253	CGC	FLII	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000177731		0.642	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	44	0.00	0	G	NM_002018		18157896	18157896	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	1.000	A
KLHL4	56062	genome.wustl.edu	37	X	86887332	86887332	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chrX:86887332G>A	ENST00000373119.4	+	7	1592	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G483R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	483						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGTCGTGGGAGGAAGAGACGG	0.448																																						dbGAP											0													124.0	105.0	111.0					X																	86887332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1447G>A	X.37:g.86887332G>A	ENSP00000362211:p.Gly483Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G483R	ENST00000373119.4	37	c.1447	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816636	0.90790	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.99494	-6.01;-6.01	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.057951	0.64402	N	0.000002	D	0.99736	0.9896	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97083	0.9785	10	0.87932	D	0	.	16.9539	0.86253	0.0:0.0:1.0:0.0	.	483;483	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	483	ENSP00000362211:G483R;ENSP00000362206:G483R	ENSP00000362206:G483R	G	+	1	0	KLHL4	86773988	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.225000	0.95219	2.211000	0.71520	0.506000	0.49869	GGA	KLHL4	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000102271		0.448	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	244	0.00	0	G			86887332	86887332	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	211	29.57	89	SNP	1.000	A
LINGO2	158038	genome.wustl.edu	37	9	27950338	27950338	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr9:27950338C>T	ENST00000379992.2	-	6	781	c.332G>A	c.(331-333)cGc>cAc	p.R111H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R111H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCTTTTAGGCGGAGGGAACG	0.433																																						dbGAP											0													143.0	143.0	143.0					9																	27950338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.332G>A	9.37:g.27950338C>T	ENSP00000369328:p.Arg111His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R111H	ENST00000379992.2	37	c.332	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553776	0.86231	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79554	-1.28;-1.28	5.87	5.87	0.94306	.	0.060482	0.85682	D	0.000000	T	0.79364	0.4433	N	0.16903	0.455	0.51012	D	0.9999	D	0.76494	0.999	P	0.62491	0.903	T	0.76924	-0.2779	9	.	.	.	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	111	Q7L985	LIGO2_HUMAN	H	111	ENSP00000369328:R111H;ENSP00000310126:R111H	.	R	-	2	0	LINGO2	27940338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.891000	0.63185	2.941000	0.99782	0.655000	0.94253	CGC	LINGO2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174482		0.433	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	151	0.00	0	C	NM_152570		27950338	27950338	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	119	31.61	55	SNP	1.000	T
MAGEE2	139599	genome.wustl.edu	37	X	75004148	75004148	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chrX:75004148G>A	ENST00000373359.2	-	1	931	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	247	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAAACTCAAGGGGATTAGTG	0.498																																						dbGAP											0													69.0	62.0	64.0					X																	75004148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.739C>T	X.37:g.75004148G>A	ENSP00000362457:p.Leu247Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L247F	ENST00000373359.2	37	c.739	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904549	0.33628	.	.	ENSG00000186675	ENST00000373359	T	0.04970	3.52	3.1	2.2	0.27929	.	.	.	.	.	T	0.12347	0.0300	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.16660	-1.0395	9	0.59425	D	0.04	.	7.1681	0.25702	0.0:0.2724:0.7276:0.0	.	247	Q8TD90	MAGE2_HUMAN	F	247	ENSP00000362457:L247F	ENSP00000362457:L247F	L	-	1	0	MAGEE2	74920873	0.998000	0.40836	0.021000	0.16686	0.910000	0.53928	3.031000	0.49728	0.657000	0.30906	0.422000	0.28245	CTT	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	69	0.00	0	G	NM_138703		75004148	75004148	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	0.018	A
MAP2K4	6416	genome.wustl.edu	37	17	12011150	12011150	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr17:12011150A>G	ENST00000353533.5	+	5	620	c.557A>G	c.(556-558)gAt>gGt	p.D186G	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.D197G	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACCTCGTTTGATAAGTTTTAC	0.294			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											151.0	162.0	158.0					17																	12011150		2203	4298	6501	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.557A>G	17.37:g.12011150A>G	ENSP00000262445:p.Asp186Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D197G	ENST00000353533.5	37	c.590	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575554	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.20598	2.06;2.06	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.49126	1.545	0.80722	D	1	D;P;P	0.76494	0.999;0.941;0.952	D;P;D	0.79784	0.993;0.871;0.921	T	0.25152	-1.0140	10	0.87932	D	0	.	14.5441	0.68015	1.0:0.0:0.0:0.0	.	58;197;186	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	G	186;197;163;58	ENSP00000262445:D186G;ENSP00000410402:D197G	ENSP00000262445:D186G	D	+	2	0	MAP2K4	11951875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.303000	0.96183	2.073000	0.62155	0.459000	0.35465	GAT	MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.294	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	322	0.00	0	A			12011150	12011150	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	85	48.48	80	SNP	1.000	G
PLCG1	5335	genome.wustl.edu	37	20	39802876	39802876	+	Missense_Mutation	SNP	G	G	A	rs565097087		TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr20:39802876G>A	ENST00000373271.1	+	31	4160	c.3755G>A	c.(3754-3756)cGc>cAc	p.R1252H	PLCG1_ENST00000244007.3_Missense_Mutation_p.R1253H|PLCG1_ENST00000373272.2_Missense_Mutation_p.R1253H|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1252					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)				TTTGAATCCCGCTACCAGCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19373	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													58.0	62.0	61.0					20																	39802876		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3755G>A	20.37:g.39802876G>A	ENSP00000362368:p.Arg1252His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R1253H	ENST00000373271.1	37	c.3758	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492439	0.84962	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.53640	0.61;0.61;0.61	5.46	5.46	0.80206	.	0.118236	0.56097	N	0.000027	T	0.55909	0.1950	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	P;P;P	0.54270	0.747;0.742;0.563	T	0.48186	-0.9057	10	0.27785	T	0.31	.	19.2981	0.94131	0.0:0.0:1.0:0.0	.	1253;1252;1253	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	H	1253;1252;1253	ENSP00000244007:R1253H;ENSP00000362368:R1252H;ENSP00000362369:R1253H	ENSP00000244007:R1253H	R	+	2	0	PLCG1	39236290	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.289000	0.78701	2.580000	0.87095	0.455000	0.32223	CGC	PLCG1	-	pirsf_PLC-gamma	ENSG00000124181		0.597	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	35	0.00	0	G	NM_182811		39802876	39802876	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	missense	53	30.77	24	SNP	1.000	A
SCFD1	23256	genome.wustl.edu	37	14	31118737	31118737	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr14:31118737C>T	ENST00000458591.2	+	8	844	c.617C>T	c.(616-618)gCt>gTt	p.A206V	SCFD1_ENST00000541123.1_Missense_Mutation_p.A21V|SCFD1_ENST00000396629.2_Missense_Mutation_p.A114V|SCFD1_ENST00000544052.2_Missense_Mutation_p.A139V|SCFD1_ENST00000421551.3_Missense_Mutation_p.A147V	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	206				A -> D (in Ref. 4; AAP97146). {ECO:0000305}.|FVTLGA -> YGTRGD (in Ref. 2; AAD48586). {ECO:0000305}.	post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAAATAGGTGCTGTTCCTATA	0.318																																						dbGAP											0													64.0	67.0	66.0					14																	31118737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.617C>T	14.37:g.31118737C>T	ENSP00000390783:p.Ala206Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A206V	ENST00000458591.2	37	c.617	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484737	0.26598	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000557076;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	N	0.04669	-0.19	0.80722	D	1	B;B;B;B	0.15473	0.002;0.013;0.005;0.008	B;B;B;B	0.15052	0.005;0.009;0.012;0.009	T	0.57189	-0.7854	10	0.05959	T	0.93	-31.661	18.4448	0.90680	0.0:1.0:0.0:0.0	.	147;139;114;206	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	V	206;139;147;21;181;47;114;61	ENSP00000390783:A206V;ENSP00000443010:A139V;ENSP00000388078:A147V;ENSP00000443537:A21V;ENSP00000450755:A181V;ENSP00000452308:A47V;ENSP00000379870:A114V;ENSP00000452448:A61V	ENSP00000309417:A214V	A	+	2	0	SCFD1	30188488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.857000	0.75455	2.676000	0.91093	0.655000	0.94253	GCT	SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	131	0.00	0	C	NM_182835		31118737	31118737	+1	no_errors	ENST00000458591	ensembl	human	known	69_37n	missense	67	29.47	28	SNP	1.000	T
SERPINA9	327657	genome.wustl.edu	37	14	94933670	94933670	+	Silent	SNP	T	T	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr14:94933670T>A	ENST00000380365.3	-	3	756	c.678A>T	c.(676-678)ccA>ccT	p.P226P	SERPINA9_ENST00000546329.1_Silent_p.P208P|SERPINA9_ENST00000424550.2_Silent_p.P95P|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Silent_p.P144P|SERPINA9_ENST00000337425.5_Silent_p.P244P|SERPINA9_ENST00000448305.2_Silent_p.P146P			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	226					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCACCAGGAATGGGAAGTTCT	0.478																																						dbGAP											0													69.0	67.0	68.0					14																	94933670		1951	4153	6104	-	-	-	SO:0001819	synonymous_variant	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.678A>T	14.37:g.94933670T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.P244	ENST00000380365.3	37	c.732		14																																																																																			SERPINA9	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000170054		0.478	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	98	0.00	0	T	NM_175739		94933670	94933670	-1	no_errors	ENST00000337425	ensembl	human	known	69_37n	silent	67	31.63	31	SNP	0.014	A
SF3B2	10992	genome.wustl.edu	37	11	65819873	65819873	+	Silent	SNP	C	C	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr11:65819873C>T	ENST00000322535.6	+	1	67	c.18C>T	c.(16-18)ccC>ccT	p.P6P	snoU13_ENST00000459530.1_RNA|SF3B2_ENST00000528302.1_Silent_p.P6P	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	6					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CGGAGCATCCCGAGCCTCCCA	0.682																																						dbGAP											0													27.0	32.0	30.0					11																	65819873		2201	4292	6493	-	-	-	SO:0001819	synonymous_variant	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.18C>T	11.37:g.65819873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.P6	ENST00000322535.6	37	c.18	CCDS31612.1	11																																																																																			SF3B2	-	NULL	ENSG00000087365		0.682	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	22	0.00	0	C			65819873	65819873	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	silent	21	37.14	13	SNP	0.294	T
SIGLEC15	284266	genome.wustl.edu	37	18	43422104	43422104	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr18:43422104G>T	ENST00000389474.3	+	6	1156	c.939G>T	c.(937-939)ttG>ttT	p.L313F	SIGLEC15_ENST00000546268.1_Missense_Mutation_p.L159F|SIGLEC15_ENST00000602118.2_3'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	313					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATGAAAATTTGAGCCAGATGA	0.517																																						dbGAP											0													80.0	78.0	79.0					18																	43422104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.939G>T	18.37:g.43422104G>T	ENSP00000374125:p.Leu313Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Y5|B4DVQ9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L313F	ENST00000389474.3	37	c.939	CCDS32819.1	18	.	.	.	.	.	.	.	.	.	.	G	9.937	1.216495	0.22373	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	T;T	0.76968	1.1;-1.06	4.91	3.12	0.35913	.	0.162995	0.29145	N	0.013009	T	0.82001	0.4942	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.77576	-0.2536	10	0.31617	T	0.26	-12.0118	7.962	0.30076	0.188:0.0:0.812:0.0	.	313	Q6ZMC9	SIG15_HUMAN	F	313;159	ENSP00000374125:L313F;ENSP00000443509:L159F	ENSP00000374125:L313F	L	+	3	2	SIGLEC15	41676102	0.999000	0.42202	0.984000	0.44739	0.653000	0.38743	0.989000	0.29629	0.672000	0.31204	-0.226000	0.12346	TTG	SIGLEC15	-	NULL	ENSG00000197046		0.517	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC15	HGNC	protein_coding	OTTHUMT00000410768.2	81	0.00	0	G	NM_213602		43422104	43422104	+1	no_errors	ENST00000389474	ensembl	human	known	69_37n	missense	67	34.95	36	SNP	0.960	T
SIRT3	23410	genome.wustl.edu	37	11	224173	224173	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr11:224173C>A	ENST00000382743.4	-	5	976	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	SIRT3_ENST00000529382.1_Missense_Mutation_p.V150L|SIRT3_ENST00000525319.1_Missense_Mutation_p.V211L|SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000528702.1_5'Flank|SIRT3_ENST00000524564.1_Missense_Mutation_p.V228L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	292	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCAAAGAACACAATGTCGGGC	0.582																																						dbGAP											0													76.0	68.0	71.0					11																	224173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.874G>T	11.37:g.224173C>A	ENSP00000372191:p.Val292Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin	p.V292L	ENST00000382743.4	37	c.874	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186119	0.78789	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000529382	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.91	3.98	0.46160	.	0.062472	0.64402	D	0.000005	T	0.81069	0.4746	H	0.98612	4.28	0.80722	D	1	D;D;D;D	0.71674	0.998;0.991;0.997;0.984	D;P;D;P	0.65874	0.939;0.826;0.937;0.761	D	0.87741	0.2585	10	0.87932	D	0	-26.4488	13.2314	0.59945	0.0:0.9179:0.0:0.0821	.	292;211;228;292	B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;SIRT3_HUMAN	L	292;211;228;150	ENSP00000372191:V292L;ENSP00000435464:V211L;ENSP00000432937:V228L;ENSP00000437216:V150L	ENSP00000372191:V292L	V	-	1	0	SIRT3	214173	1.000000	0.71417	0.997000	0.53966	0.497000	0.33675	4.866000	0.63005	2.441000	0.82636	0.650000	0.86243	GTG	SIRT3	-	pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin	ENSG00000142082		0.582	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	42	0.00	0	C			224173	224173	-1	no_errors	ENST00000382743	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	A
SNAPC1	6617	genome.wustl.edu	37	14	62229257	62229257	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr14:62229257G>A	ENST00000216294.4	+	1	183	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	27	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TGTACGCTTCGAGGACTTCAC	0.632																																					NSCLC(27;223 907 37180 39193 46568)	dbGAP											0													141.0	131.0	134.0					14																	62229257		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.79G>A	14.37:g.62229257G>A	ENSP00000216294:p.Glu27Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNAPc_SNAP43	p.E27K	ENST00000216294.4	37	c.79	CCDS9755.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.400920	0.97537	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.17	6.17	0.99709	.	0.094194	0.64402	D	0.000001	T	0.77705	0.4170	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.76721	-0.2855	9	0.66056	D	0.02	-11.6079	20.8794	0.99867	0.0:0.0:1.0:0.0	.	27	Q16533	SNPC1_HUMAN	K	27	.	ENSP00000216294:E27K	E	+	1	0	SNAPC1	61299010	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.432000	0.90288	2.941000	0.99782	0.655000	0.94253	GAG	SNAPC1	-	pfam_SNAPc_SNAP43	ENSG00000023608		0.632	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2	79	0.00	0	G	NM_003082		62229257	62229257	+1	no_errors	ENST00000216294	ensembl	human	known	69_37n	missense	82	27.43	31	SNP	1.000	A
TNFRSF10A	8797	genome.wustl.edu	37	8	23049438	23049439	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr8:23049438_23049439insT	ENST00000221132.3	-	10	1239_1240	c.1175_1176insA	c.(1174-1176)aatfs	p.N392fs	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	392	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CATCGATCTCATTTTTCGTGAG	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1176dupA	8.37:g.23049443_23049443dupT	ENSP00000221132:p.Asn392fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5I4|Q53Y72|Q96E62	Frame_Shift_Ins	INS	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.N392fs	ENST00000221132.3	37	c.1176_1175	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000104689		0.520	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	151	0.00	0	-	NM_003844		23049438	23049439	-1	no_errors	ENST00000221132	ensembl	human	known	69_37n	frame_shift_ins	55	47.62	50	INS	0.505:0.425	T
ZNF143	7702	genome.wustl.edu	37	11	9494303	9494303	+	Silent	SNP	A	A	G			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr11:9494303A>G	ENST00000396602.2	+	3	311	c.192A>G	c.(190-192)caA>caG	p.Q64Q	ZNF143_ENST00000530463.1_Silent_p.Q64Q|ZNF143_ENST00000396597.3_Intron|ZNF143_ENST00000396604.1_Silent_p.Q64Q|ZNF143_ENST00000299606.2_Silent_p.Q64Q	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	64					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CTTACATACAACACAATTCTA	0.378																																						dbGAP											0													140.0	130.0	134.0					11																	9494303		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.192A>G	11.37:g.9494303A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q64	ENST00000396602.2	37	c.192	CCDS7799.2	11																																																																																			ZNF143	-	NULL	ENSG00000166478		0.378	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	128	0.00	0	A	NM_003442		9494303	9494303	+1	no_errors	ENST00000396602	ensembl	human	known	69_37n	silent	124	16.22	24	SNP	0.759	G
ZNF300P1	134466	genome.wustl.edu	37	5	150321847	150321847	+	RNA	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr5:150321847G>A	ENST00000520773.1	-	0	1401									zinc finger protein 300 pseudogene 1 (functional)																		CCAACTTGGAGATGACATCTG	0.398																																						dbGAP											0																																										-	-	-			0			AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150321847G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000520773.1	37	NULL		5																																																																																			ZNF300P1	-	-	ENSG00000197083		0.398	ZNF300P1-002	KNOWN	basic	processed_transcript	ZNF300P1	HGNC	pseudogene	OTTHUMT00000374771.1	71	0.00	0	G	NR_026867		150321847	150321847	-1	no_errors	ENST00000520773	ensembl	human	known	69_37n	rna	57	34.48	30	SNP	0.794	A
ZNF496	84838	genome.wustl.edu	37	1	247473058	247473058	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EI-01A-11D-A10Y-09	TCGA-BH-A0EI-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ee8e93e0-d08c-400e-8ed7-ae56d7aefbec	0fb7e29d-006a-4f20-b0d8-77f941c16eaa	g.chr1:247473058G>A	ENST00000294753.4	-	7	1299	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R315C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	279	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCTGGAACGCGTGGCTCATTC	0.517																																						dbGAP											0													87.0	80.0	82.0					1																	247473058		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.835C>T	1.37:g.247473058G>A	ENSP00000294753:p.Arg279Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R315C	ENST00000294753.4	37	c.943	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	4.373	0.068717	0.08436	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06933	3.24;3.24	3.98	2.09	0.27110	Krueppel-associated box (2);	0.461316	0.16545	N	0.209759	T	0.04770	0.0129	N	0.16478	0.41	0.09310	N	1	B;B	0.21381	0.055;0.016	B;B	0.14578	0.011;0.001	T	0.33879	-0.9851	10	0.48119	T	0.1	-26.3378	5.6771	0.17755	0.2426:0.0:0.7574:0.0	.	315;279	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	279;315	ENSP00000294753:R279C;ENSP00000355454:R315C	ENSP00000294753:R279C	R	-	1	0	ZNF496	245539681	0.003000	0.15002	0.002000	0.10522	0.201000	0.24016	0.943000	0.29030	1.032000	0.39892	0.561000	0.74099	CGC	ZNF496	-	pfscan_Krueppel-associated_box	ENSG00000162714		0.517	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	92	0.00	0	G	NM_032752		247473058	247473058	-1	no_errors	ENST00000366498	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	0.001	A
