#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_ORegAnno_bin	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
ANO7	50636	genome.wustl.edu	37	2	242155637	242155637	+	Silent	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr2:242155637C>T	ENST00000274979.8	+	19	2221	c.2118C>T	c.(2116-2118)gaC>gaT	p.D706D	ANO7_ENST00000402430.3_Silent_p.D705D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	706					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GTCTGTTTGACGAGTACCTGG	0.642																																						dbGAP											0													45.0	46.0	45.0					2																	242155637		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2118C>T	2.37:g.242155637C>T			Q6IWH6	Silent	SNP	pfam_Anoctamin	p.D706	ENST00000274979.8	37	c.2118	CCDS33423.1	2																																																																																			ANO7	-	pfam_Anoctamin	ENSG00000146205		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	33	0.00	0	C	NM_001001891		242155637	242155637	+1	no_errors	ENST00000274979	ensembl	human	known	69_37n	silent	49	30.00	21	SNP	0.573	T
APBB3	10307	genome.wustl.edu	37	5	139939900	139939900	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr5:139939900T>C	ENST00000357560.4	-	12	1665	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.M413V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.M185V|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.M406V|APBB3_ENST00000354402.5_Missense_Mutation_p.M415V|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	408	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCACCATACAGGCAGCC	0.607																																						dbGAP											0													51.0	51.0	51.0					5																	139939900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1222A>G	5.37:g.139939900T>C	ENSP00000350171:p.Met408Val		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.M413V	ENST00000357560.4	37	c.1237	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425131	0.62733	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.38175	1.15	0.80722	D	1	D;D	0.56968	0.978;0.978	D;D	0.67382	0.947;0.951	T	0.20273	-1.0280	9	.	.	.	-15.9814	15.2079	0.73195	0.0:0.0:0.0:1.0	.	406;413	O95704-2;O95704-3	.;.	V	413;415;408;185;406	ENSP00000349177:M413V;ENSP00000346378:M415V;ENSP00000350171:M408V;ENSP00000444013:M185V;ENSP00000402591:M406V	.	M	-	1	0	APBB3	139920084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.896000	0.87350	2.078000	0.62432	0.533000	0.62120	ATG	APBB3	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000113108		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	19	0.00	0	T	NM_006051		139939900	139939900	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	30	41.18	21	SNP	1.000	C
C11orf40	143501	genome.wustl.edu	37	11	4594539	4594539	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr11:4594539A>G	ENST00000307616.1	-	2	304	c.305T>C	c.(304-306)gTa>gCa	p.V102A		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	102										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACTTACAGTACCCTAAAGCA	0.493																																						dbGAP											0													209.0	171.0	184.0					11																	4594539		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.305T>C	11.37:g.4594539A>G	ENSP00000302918:p.Val102Ala			Missense_Mutation	SNP	NULL	p.V102A	ENST00000307616.1	37	c.305	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	A	4.547	0.101553	0.08731	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	1.45	1.45	0.22620	.	.	.	.	.	T	0.43919	0.1269	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	P	0.59948	0.866	T	0.22591	-1.0212	9	0.87932	D	0	.	5.0295	0.14402	1.0:0.0:0.0:0.0	.	102	Q8WZ69	CK040_HUMAN	A	102	ENSP00000302918:V102A	ENSP00000302918:V102A	V	-	2	0	C11orf40	4551115	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.577000	0.23758	0.934000	0.37316	0.338000	0.21704	GTA	C11orf40	-	NULL	ENSG00000171987		0.493	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1	114	0.00	0	A	NM_144663		4594539	4594539	-1	no_errors	ENST00000307616	ensembl	human	known	69_37n	missense	260	23.53	80	SNP	0.001	G
C11orf84	144097	genome.wustl.edu	37	11	63585750	63585750	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr11:63585750G>A	ENST00000294244.4	+	3	819	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	174	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AATGCCAGCCGAAATCGTCGT	0.607																																						dbGAP											0													80.0	86.0	84.0					11																	63585750		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.520G>A	11.37:g.63585750G>A	ENSP00000294244:p.Glu174Lys		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.E174K	ENST00000294244.4	37	c.520	CCDS31594.1	11	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655913	0.67586	.	.	ENSG00000168005	ENST00000294244	T	0.60299	0.2	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000014	T	0.72598	0.3480	L	0.56769	1.78	0.37759	D	0.926249	D	0.89917	1.0	D	0.83275	0.996	T	0.77178	-0.2683	10	0.87932	D	0	-30.8968	14.987	0.71356	0.0:0.0:1.0:0.0	.	174	Q9BUA3	CK084_HUMAN	K	174	ENSP00000294244:E174K	ENSP00000294244:E174K	E	+	1	0	C11orf84	63342326	1.000000	0.71417	0.976000	0.42696	0.052000	0.14988	4.718000	0.61930	2.610000	0.88304	0.561000	0.74099	GAA	C11orf84	-	NULL	ENSG00000168005		0.607	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	15	0.00	0	G	NM_138471		63585750	63585750	+1	no_errors	ENST00000294244	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	0.987	A
CDK11A	728642	genome.wustl.edu	37	1	1653040	1653040	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr1:1653040T>A	ENST00000378633.1	-	3	301	c.222A>T	c.(220-222)gaA>gaT	p.E74D	CDK11A_ENST00000357760.2_Missense_Mutation_p.E74D|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.E74D|CDK11A_ENST00000404249.3_Missense_Mutation_p.E74D|CDK11A_ENST00000378638.2_Missense_Mutation_p.E40D|CDK11A_ENST00000356200.3_Missense_Mutation_p.E40D|CDK11A_ENST00000378635.3_Missense_Mutation_p.E74D			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	74	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTCACCTGTCTTCCATTGAGT	0.522																																					Pancreas(186;965 2119 30274 40311 50569)	dbGAP											0													114.0	95.0	101.0					1																	1653040		1904	4114	6018	-	-	-	SO:0001583	missense	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.222A>T	1.37:g.1653040T>A	ENSP00000367900:p.Glu74Asp		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	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.E74D	ENST00000378633.1	37	c.222		1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881341	0.33255	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	3.09	1.95	0.26073	.	0.061000	0.64402	N	0.000006	T	0.22244	0.0536	L	0.36672	1.1	0.32592	N	0.527008	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.994;0.999;0.986;0.996;0.974;0.986;1.0;0.997;0.974;0.999	D;D;D;D;D;D;D;D;D;D;D	0.87578	0.978;0.97;0.989;0.965;0.987;0.953;0.965;0.998;0.99;0.953;0.994	T	0.14980	-1.0453	10	0.72032	D	0.01	.	6.8937	0.24245	0.0:0.2165:0.0:0.7835	.	74;74;74;74;74;74;40;74;74;40;74	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	D	40;74;74;74;74;40;40;74;74	ENSP00000348529:E40D;ENSP00000384442:E74D;ENSP00000350403:E74D;ENSP00000351629:E74D;ENSP00000367900:E74D;ENSP00000367905:E40D;ENSP00000367902:E74D;ENSP00000423900:E74D	ENSP00000348529:E40D	E	-	3	2	CDK11A	1642900	0.984000	0.35163	1.000000	0.80357	0.145000	0.21501	0.059000	0.14322	0.306000	0.22856	0.327000	0.21459	GAA	CDK11A	-	NULL	ENSG00000008128		0.522	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	168	0.00	0	T	NM_024011		1653040	1653040	-1	no_errors	ENST00000404249	ensembl	human	known	69_37n	missense	237	24.04	75	SNP	1.000	A
CDKN1B	1027	genome.wustl.edu	37	12	12870900	12870901	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr12:12870900_12870901delCG	ENST00000228872.4	+	1	843_844	c.127_128delCG	c.(127-129)cggfs	p.R43fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.R43fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGTTAACCCGGGACTTGGAG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.127_128delCG	12.37:g.12870900_12870901delCG	ENSP00000228872:p.Arg43fs		Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Del	DEL	pfam_CDI	p.R43fs	ENST00000228872.4	37	c.127_128	CCDS8653.1	12																																																																																			CDKN1B	-	pfam_CDI	ENSG00000111276		0.604	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	17	0.00	0	CG	NM_004064		12870900	12870901	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_del	61	27.38	23	DEL	0.998:1.000	-
CHCHD6	84303	genome.wustl.edu	37	3	126445927	126445927	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr3:126445927G>A	ENST00000290913.3	+	2	187	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	CHCHD6_ENST00000508789.1_Missense_Mutation_p.E32K	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	32					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						TTAGCTGTCTGAAAACGTGGT	0.493																																						dbGAP											0													118.0	115.0	116.0					3																	126445927		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.94G>A	3.37:g.126445927G>A	ENSP00000290913:p.Glu32Lys		D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP	pfam_DUF737	p.E32K	ENST00000290913.3	37	c.94	CCDS3041.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118547	0.77323	.	.	ENSG00000159685	ENST00000290913;ENST00000508789	T;T	0.55930	0.49;0.49	4.46	4.46	0.54185	.	0.391224	0.26859	N	0.022136	T	0.65460	0.2693	L	0.58101	1.795	0.48341	D	0.999631	D;D	0.63880	0.993;0.993	D;D	0.65323	0.934;0.909	T	0.68066	-0.5507	10	0.66056	D	0.02	-12.114	12.4976	0.55937	0.0:0.0:1.0:0.0	.	32;32	D6R9U0;Q9BRQ6	.;CHCH6_HUMAN	K	32	ENSP00000290913:E32K;ENSP00000422912:E32K	ENSP00000290913:E32K	E	+	1	0	CHCHD6	127928617	0.991000	0.36638	1.000000	0.80357	0.909000	0.53808	4.134000	0.57990	2.303000	0.77524	0.591000	0.81541	GAA	CHCHD6	-	pfam_DUF737	ENSG00000159685		0.493	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD6	HGNC	protein_coding	OTTHUMT00000356432.1	101	0.00	0	G	NM_032343		126445927	126445927	+1	no_errors	ENST00000290913	ensembl	human	known	69_37n	missense	147	27.23	55	SNP	1.000	A
CORO2B	10391	genome.wustl.edu	37	15	69003905	69003905	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr15:69003905G>T	ENST00000566799.1	+	5	537	c.508G>T	c.(508-510)Ggt>Tgt	p.G170C	CORO2B_ENST00000543950.1_Missense_Mutation_p.G165C|CORO2B_ENST00000261861.5_Missense_Mutation_p.G165C|CORO2B_ENST00000540068.1_Missense_Mutation_p.G165C			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	170					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGGATGTGGGTGAGCCGGT	0.587																																						dbGAP											0													113.0	81.0	92.0					15																	69003905		2200	4298	6498	-	-	-	SO:0001583	missense	0			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.508G>T	15.37:g.69003905G>T	ENSP00000454783:p.Gly170Cys		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G170C	ENST00000566799.1	37	c.508	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026813	0.75390	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.63913	-0.07;-0.07	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.489229	0.22755	N	0.056031	T	0.71829	0.3386	M	0.77616	2.38	0.80722	D	1	B	0.26445	0.149	B	0.37550	0.253	T	0.71324	-0.4627	10	0.62326	D	0.03	-21.8348	18.7684	0.91881	0.0:0.0:1.0:0.0	.	170	Q9UQ03	COR2B_HUMAN	C	170;165;165	ENSP00000446250:G165C;ENSP00000443819:G165C	ENSP00000261861:G170C	G	+	1	0	CORO2B	66790959	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	9.751000	0.98889	2.669000	0.90835	0.561000	0.74099	GGT	CORO2B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103647		0.587	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		11	0.00	0	G	NM_006091		69003905	69003905	+1	no_errors	ENST00000566799	ensembl	human	known	69_37n	missense	137	25.14	46	SNP	1.000	T
CTCF	10664	genome.wustl.edu	37	16	67645919	67645919	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr16:67645919C>T	ENST00000264010.4	+	4	1291	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	283					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAATTTGGATCGTCACATGAA	0.463																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													150.0	123.0	132.0					16																	67645919		2198	4300	6498	-	-	-	SO:0001583	missense	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.847C>T	16.37:g.67645919C>T	ENSP00000264010:p.Arg283Cys		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R283C	ENST00000264010.4	37	c.847	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648932	0.87958	.	.	ENSG00000102974	ENST00000264010	T	0.26660	1.72	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.54870	0.1885	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58317	-0.7657	10	0.72032	D	0.01	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	283	P49711	CTCF_HUMAN	C	283	ENSP00000264010:R283C	ENSP00000264010:R283C	R	+	1	0	CTCF	66203420	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.890000	0.69774	2.697000	0.92050	0.655000	0.94253	CGT	CTCF	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102974		0.463	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	60	0.00	0	C	NM_006565		67645919	67645919	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	missense	70	37.93	44	SNP	1.000	T
DAB2	1601	genome.wustl.edu	37	5	39394418	39394418	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr5:39394418G>A	ENST00000320816.6	-	2	472	c.5C>T	c.(4-6)tCt>tTt	p.S2F	DAB2_ENST00000509337.1_Missense_Mutation_p.S2F|DAB2_ENST00000339788.6_Missense_Mutation_p.S2F|DAB2_ENST00000545653.1_Missense_Mutation_p.S2F|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	2					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TACTTCGTTAGACATGGCAAG	0.488																																						dbGAP											0													140.0	125.0	130.0					5																	39394418		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.5C>T	5.37:g.39394418G>A	ENSP00000313391:p.Ser2Phe		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.S2F	ENST00000320816.6	37	c.5	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812026	0.90707	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	T;T;T;T	0.51325	0.71;0.9;0.73;0.73	5.87	5.87	0.94306	.	0.386259	0.32231	N	0.006392	T	0.71426	0.3338	M	0.75264	2.295	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.72766	-0.4194	10	0.87932	D	0	-17.1642	20.1948	0.98239	0.0:0.0:1.0:0.0	.	2;2	P98082;P98082-3	DAB2_HUMAN;.	F	2	ENSP00000313391:S2F;ENSP00000345508:S2F;ENSP00000439919:S2F;ENSP00000426245:S2F	ENSP00000313391:S2F	S	-	2	0	DAB2	39430175	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.475000	0.73582	2.782000	0.95742	0.561000	0.74099	TCT	DAB2	-	NULL	ENSG00000153071		0.488	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	108	0.00	0	G	NM_001343		39394418	39394418	-1	no_errors	ENST00000320816	ensembl	human	known	69_37n	missense	264	24.14	84	SNP	1.000	A
EED	8726	genome.wustl.edu	37	11	85977150	85977150	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr11:85977150T>C	ENST00000263360.6	+	8	1438	c.752T>C	c.(751-753)aTa>aCa	p.I251T	EED_ENST00000327320.4_Missense_Mutation_p.I251T|EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Missense_Mutation_p.I251T	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	251	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGTGAAAAAATAATGTCCTGT	0.284																																						dbGAP											0													84.0	94.0	90.0					11																	85977150		2202	4293	6495	-	-	-	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.752T>C	11.37:g.85977150T>C	ENSP00000263360:p.Ile251Thr		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I251T	ENST00000263360.6	37	c.752	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185891	0.78789	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228	T;T;T	0.64618	1.31;1.31;-0.11	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.994	D;D;D	0.74023	0.978;0.982;0.976	D	0.86060	0.1531	9	.	.	.	-14.8347	15.658	0.77158	0.0:0.0:0.0:1.0	.	251;251;251	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	T	251;251;251;44	ENSP00000263360:I251T;ENSP00000338186:I251T;ENSP00000315587:I251T	.	I	+	2	0	EED	85654798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.851000	0.86920	2.158000	0.67659	0.460000	0.39030	ATA	EED	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000074266		0.284	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	153	0.00	0	T	NM_003797		85977150	85977150	+1	no_errors	ENST00000263360	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	C
EFTUD2	9343	genome.wustl.edu	37	17	42964087	42964087	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr17:42964087C>A	ENST00000426333.2	-	3	434	c.137G>T	c.(136-138)gGa>gTa	p.G46V	RN7SL405P_ENST00000582502.1_RNA|EFTUD2_ENST00000591382.1_Missense_Mutation_p.G46V|EFTUD2_ENST00000589211.1_5'UTR|EFTUD2_ENST00000592576.1_Missense_Mutation_p.G46V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.G11V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	46					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				gtcatgatctcctacgtcatc	0.527																																					Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													173.0	110.0	131.0					17																	42964087		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.137G>T	17.37:g.42964087C>A	ENSP00000392094:p.Gly46Val		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.G46V	ENST00000426333.2	37	c.137	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175906	0.57692	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.70869	-0.52;-0.48	6.01	5.02	0.67125	.	0.354732	0.31989	N	0.006742	T	0.58906	0.2155	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.52335	-0.8589	10	0.30078	T	0.28	-8.359	17.0962	0.86635	0.0:0.8732:0.1268:0.0	.	46;46	B4DMC0;Q15029	.;U5S1_HUMAN	V	46;46;11	ENSP00000392094:G46V;ENSP00000385873:G11V	ENSP00000262414:G46V	G	-	2	0	EFTUD2	40319613	1.000000	0.71417	0.077000	0.20336	0.683000	0.39861	4.011000	0.57124	1.515000	0.48885	0.655000	0.94253	GGA	EFTUD2	-	NULL	ENSG00000108883		0.527	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	47	0.00	0	C	NM_004247		42964087	42964087	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	missense	364	25.91	128	SNP	0.987	A
ELMO1	9844	genome.wustl.edu	37	7	37256293	37256293	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr7:37256293G>A	ENST00000310758.4	-	11	1435	c.788C>T	c.(787-789)gCg>gTg	p.A263V	ELMO1_ENST00000442504.1_Missense_Mutation_p.A263V|ELMO1_ENST00000448602.1_Missense_Mutation_p.A263V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	263					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAAAATATTCGCCATCTCCTG	0.473																																						dbGAP											0													142.0	131.0	135.0					7																	37256293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.788C>T	7.37:g.37256293G>A	ENSP00000312185:p.Ala263Val		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO,pfam_DUF3361	p.R43*	ENST00000310758.4	37	c.127	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.677114|4.677114	0.88445|0.88445	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212|ENST00000433246	T;T;T;T|.	0.32515|.	2.54;2.54;2.54;1.45|.	4.59|4.59	3.62|3.62	0.41486|0.41486	Armadillo-type fold (1);|.	0.204926|.	0.41294|.	D|.	0.000903|.	T|.	0.70228|.	0.3200|.	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P|.	0.47910|.	0.902|.	P|.	0.48189|.	0.57|.	T|.	0.69705|.	-0.5073|.	10|.	0.20046|.	T|.	0.44|.	.|.	13.201|13.201	0.59767|0.59767	0.0:0.1602:0.8398:0.0|0.0:0.1602:0.8398:0.0	.|.	263|.	Q92556|.	ELMO1_HUMAN|.	V|X	263;167;263;263;4|43	ENSP00000312185:A263V;ENSP00000406952:A263V;ENSP00000394458:A263V;ENSP00000395933:A4V|.	ENSP00000312185:A263V|.	A|R	-|-	2|1	0|2	ELMO1|ELMO1	37222818|37222818	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.986000|0.986000	0.74619|0.74619	6.985000|6.985000	0.76193|0.76193	2.478000|2.478000	0.83669|0.83669	0.655000|0.655000	0.94253|0.94253	GCG|CGA	ELMO1	-	pfam_DUF3361	ENSG00000155849		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	65	0.00	0	G	NM_130442		37256293	37256293	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433246	ensembl	human	novel	69_37n	nonsense	115	21.62	32	SNP	0.998	A
GNA15	2769	genome.wustl.edu	37	19	3151786	3151786	+	Silent	SNP	C	C	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr19:3151786C>G	ENST00000262958.3	+	4	825	c.567C>G	c.(565-567)acC>acG	p.T189T	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	189					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCATGCCCACCACTGGCATCA	0.632																																						dbGAP											0													115.0	99.0	104.0					19																	3151786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.567C>G	19.37:g.3151786C>G			E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.T189	ENST00000262958.3	37	c.567	CCDS12104.1	19																																																																																			GNA15	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000060558		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	11	0.00	0	C	NM_002068		3151786	3151786	+1	no_errors	ENST00000262958	ensembl	human	known	69_37n	silent	87	28.69	35	SNP	1.000	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685275	23685275	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr15:23685275C>T	ENST00000567107.1	-	8	2399	c.2347G>A	c.(2347-2349)Gtg>Atg	p.V783M	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						cctgctcccacatcatctcct	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2347G>A	15.37:g.23685275C>T	ENSP00000454407:p.Val783Met		A1L301	Missense_Mutation	SNP	NULL	p.V783M	ENST00000567107.1	37	c.2347		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.567	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	14	0.00	0	C	NM_182561		23685275	23685275	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	69	21.59	19	SNP	0.042	T
HLCS	3141	genome.wustl.edu	37	21	38308910	38308910	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr21:38308910C>T	ENST00000399120.1	-	5	2065	c.835G>A	c.(835-837)Gag>Aag	p.E279K	HLCS_ENST00000336648.4_Missense_Mutation_p.E279K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	279					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGCTTCACCTCGCTCTGGTCA	0.587																																						dbGAP											0													79.0	75.0	76.0					21																	38308910		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.835G>A	21.37:g.38308910C>T	ENSP00000382071:p.Glu279Lys		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.E279K	ENST00000399120.1	37	c.835	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	c	9.750	1.167187	0.21621	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98313	-4.86;-4.86	5.7	0.786	0.18590	.	0.769104	0.13323	N	0.396493	D	0.93119	0.7809	L	0.47716	1.5	0.09310	N	1	P;P	0.46952	0.887;0.783	B;B	0.31101	0.124;0.122	D	0.87482	0.2421	10	0.13108	T	0.6	.	4.3877	0.11325	0.1064:0.344:0.4068:0.1428	.	279;279	B2RAH1;P50747	.;BPL1_HUMAN	K	279	ENSP00000382071:E279K;ENSP00000338387:E279K	ENSP00000338387:E279K	E	-	1	0	HLCS	37230780	0.069000	0.21087	0.000000	0.03702	0.012000	0.07955	1.017000	0.29989	-0.124000	0.11724	-0.733000	0.03571	GAG	HLCS	-	NULL	ENSG00000159267		0.587	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	12	0.00	0	C			38308910	38308910	-1	no_errors	ENST00000336648	ensembl	human	known	69_37n	missense	76	23.23	23	SNP	0.001	T
IGKV2D-26	28884	genome.wustl.edu	37	2	90024772	90024772	+	RNA	SNP	C	C	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr2:90024772C>G	ENST00000390268.2	+	0	41									immunoglobulin kappa variable 2D-26																		ATGAGGCTCCCTGCTCAGCTC	0.552																																						dbGAP											0																																										-	-	-			0			X12689		2p11.2	2012-02-08			ENSG00000211623	ENSG00000211623		"""Immunoglobulins / IGK locus"""	5798	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151606		2.37:g.90024772C>G				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P4R	ENST00000390268.2	37	c.11		2																																																																																			IGKV2D-26	-	NULL	ENSG00000211623		0.552	IGKV2D-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-26	HGNC	IG_V_gene	OTTHUMT00000323278.2	81	0.00	0	C	NG_000833		90024772	90024772	+1	no_stop_codon	ENST00000390268	ensembl	human	known	69_37n	missense	238	22.98	71	SNP	0.004	G
IGKV2D-26	28884	genome.wustl.edu	37	2	90025427	90025427	+	RNA	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr2:90025427C>T	ENST00000390268.2	+	0	305									immunoglobulin kappa variable 2D-26																		GGCAGCGGGTCAGGGACAGAT	0.507																																						dbGAP											0																																										-	-	-			0			X12689		2p11.2	2012-02-08			ENSG00000211623	ENSG00000211623		"""Immunoglobulins / IGK locus"""	5798	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151606		2.37:g.90025427C>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S92L	ENST00000390268.2	37	c.275		2																																																																																			IGKV2D-26	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211623		0.507	IGKV2D-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-26	HGNC	IG_V_gene	OTTHUMT00000323278.2	61	0.00	0	C	NG_000833		90025427	90025427	+1	no_stop_codon	ENST00000390268	ensembl	human	known	69_37n	missense	131	22.49	38	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4726865	4726865	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr3:4726865A>G	ENST00000443694.2	+	27	3632	c.3632A>G	c.(3631-3633)gAg>gGg	p.E1211G	ITPR1_ENST00000354582.6_Missense_Mutation_p.E1226G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1217G|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1211G|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1217G|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1202G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1226					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTGGTGCTGGAGCTGCTGCAG	0.577																																						dbGAP											0													30.0	31.0	31.0					3																	4726865		2093	4227	6320	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3632A>G	3.37:g.4726865A>G	ENSP00000401671:p.Glu1211Gly		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1211G	ENST00000443694.2	37	c.3632	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900651	0.92035	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.25	5.25	0.73442	Intracellular calcium-release channel (1);	0.050938	0.85682	D	0.000000	D	0.92873	0.7733	M	0.68593	2.085	0.80722	D	1	D;B	0.59767	0.986;0.167	P;B	0.62813	0.907;0.053	D	0.93455	0.6805	10	0.62326	D	0.03	.	15.181	0.72960	1.0:0.0:0.0:0.0	.	1226;1217	Q14643;G5E9P1	ITPR1_HUMAN;.	G	1226;1211;1226;1217;1217;1202;1211	ENSP00000306253:E1211G;ENSP00000346595:E1226G;ENSP00000405934:E1217G;ENSP00000349597:E1217G;ENSP00000397885:E1202G;ENSP00000401671:E1211G	ENSP00000306253:E1211G	E	+	2	0	ITPR1	4701865	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.210000	0.95106	1.965000	0.57142	0.482000	0.46254	GAG	ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.577	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	46	0.00	0	A	NM_002222		4726865	4726865	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	66	27.96	26	SNP	1.000	G
KRTAP4-5	85289	genome.wustl.edu	37	17	39305785	39305785	+	Missense_Mutation	SNP	A	A	T	rs411367		TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr17:39305785A>T	ENST00000343246.4	-	1	269	c.235T>A	c.(235-237)Tgc>Agc	p.C79S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggcagcagcaggggcggcag	0.657																																						dbGAP											0													12.0	18.0	16.0					17																	39305785		2089	4172	6261	-	-	-	SO:0001583	missense	0			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.235T>A	17.37:g.39305785A>T	ENSP00000340546:p.Cys79Ser			Missense_Mutation	SNP	NULL	p.C79S	ENST00000343246.4	37	c.235	CCDS32650.1	17	773	0.35393772893772896	210	0.4268292682926829	126	0.34806629834254144	175	0.30594405594405594	262	0.34564643799472294	.	0.010	-1.763522	0.00651	.	.	ENSG00000198271	ENST00000343246	T	0.00534	6.74	2.78	-5.56	0.02529	.	0.768893	0.10092	N	0.717076	T	0.00012	0.0000	N	0.01431	-0.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.02654	T	1	.	5.4481	0.16548	0.6146:0.0:0.1542:0.2312	rs411367;rs6503604	79	Q9BYR2	KRA45_HUMAN	S	79	ENSP00000340546:C79S	ENSP00000340546:C79S	C	-	1	0	KRTAP4-5	36559311	0.977000	0.34250	0.000000	0.03702	0.000000	0.00434	-0.260000	0.08708	-1.272000	0.02427	-2.057000	0.00402	TGC	KRTAP4-5	-	NULL	ENSG00000198271		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-5	HGNC	protein_coding	OTTHUMT00000257783.1	14	0.00	0	A			39305785	39305785	-1	no_errors	ENST00000343246	ensembl	human	known	69_37n	missense	108	28.00	42	SNP	0.000	T
MET	4233	genome.wustl.edu	37	7	116371755	116371755	+	Missense_Mutation	SNP	C	C	G	rs367628460		TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr7:116371755C>G	ENST00000318493.6	+	3	1421	c.1234C>G	c.(1234-1236)Cgc>Ggc	p.R412G	MET_ENST00000397752.3_Missense_Mutation_p.R412G|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.R412G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGTGAAGCGCGCCGTGATGA	0.418			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													97.0	89.0	91.0					7																	116371755		1872	4097	5969	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1234C>G	7.37:g.116371755C>G	ENSP00000317272:p.Arg412Gly		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.R412G	ENST00000318493.6	37	c.1234	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	9.948	1.219345	0.22373	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04234	3.67;3.67;3.67	5.44	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.157800	0.56097	D	0.000024	T	0.11067	0.0270	M	0.72118	2.19	0.50813	D	0.999899	P;B;P;B;B;B;B;B;B;B;P	0.47484	0.756;0.007;0.613;0.007;0.007;0.007;0.012;0.007;0.002;0.003;0.896	B;B;B;B;B;B;B;B;B;B;P	0.44696	0.367;0.032;0.338;0.032;0.032;0.032;0.032;0.032;0.007;0.032;0.458	T	0.02301	-1.1180	10	0.59425	D	0.04	.	16.8907	0.86086	0.1368:0.8632:0.0:0.0	.	412;412;412;412;412;412;412;412;412;412;412	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	G	412	ENSP00000380860:R412G;ENSP00000317272:R412G;ENSP00000410980:R412G	ENSP00000317272:R412G	R	+	1	0	MET	116158991	0.992000	0.36948	0.960000	0.40013	0.269000	0.26545	3.240000	0.51368	2.536000	0.85505	0.655000	0.94253	CGC	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000105976		0.418	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	53	0.00	0	C			116371755	116371755	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	0.601	G
NPY1R	4886	genome.wustl.edu	37	4	164247028	164247028	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr4:164247028T>G	ENST00000296533.2	-	2	1210	c.679A>C	c.(679-681)Ata>Cta	p.I227L	NPY1R_ENST00000509586.1_5'UTR	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	227					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAATAAATATAAAACAAAGT	0.333																																						dbGAP											0													37.0	36.0	36.0					4																	164247028		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.679A>C	4.37:g.164247028T>G	ENSP00000354652:p.Ile227Leu		B2R6H5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.I227L	ENST00000296533.2	37	c.679	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674434	0.67928	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.43688	0.94;0.94	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.056229	0.64402	D	0.000003	T	0.49150	0.1540	M	0.62016	1.91	0.80722	D	1	P	0.45768	0.866	P	0.45946	0.498	T	0.49978	-0.8881	10	0.48119	T	0.1	.	16.2262	0.82293	0.0:0.0:0.0:1.0	.	227	P25929	NPY1R_HUMAN	L	227;49	ENSP00000354652:I227L;ENSP00000421618:I49L	ENSP00000354652:I227L	I	-	1	0	NPY1R	164466478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.910000	0.69931	2.237000	0.73441	0.533000	0.62120	ATA	NPY1R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000164128		0.333	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	49	0.00	0	T			164247028	164247028	-1	no_errors	ENST00000296533	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	1.000	G
OR2A7	401427	genome.wustl.edu	37	7	143956461	143956461	+	Silent	SNP	T	T	C	rs199974780	byFrequency	TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr7:143956461T>C	ENST00000493325.1	-	1	354	c.261A>G	c.(259-261)ccA>ccG	p.P87P	ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGGGCTTGGCTGGATGCAGGA	0.572																																						dbGAP											0													5.0	6.0	5.0					7																	143956461		1342	3122	4464	-	-	-	SO:0001819	synonymous_variant	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.261A>G	7.37:g.143956461T>C			B2RN57|Q6IFP4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.P87	ENST00000493325.1	37	c.261	CCDS55177.1	7																																																																																			OR2A7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000243896		0.572	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1	13	0.00	0	T			143956461	143956461	-1	no_errors	ENST00000493325	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	0.000	C
OR7D2	162998	genome.wustl.edu	37	19	9296535	9296535	+	Silent	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr19:9296535C>T	ENST00000344248.2	+	1	257	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	26					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26L(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493																																						dbGAP											1	Substitution - Missense(1)	lung(1)											83.0	80.0	81.0					19																	9296535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.78C>T	19.37:g.9296535C>T			Q6IFJ7|Q8N133	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F26	ENST00000344248.2	37	c.78	CCDS32900.1	19																																																																																			OR7D2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000188000		0.493	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	45	0.00	0	C			9296535	9296535	+1	no_errors	ENST00000344248	ensembl	human	known	69_37n	silent	111	22.76	33	SNP	0.000	T
NPY4R	5540	genome.wustl.edu	37	10	47087301	47087301	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr10:47087301C>G	ENST00000395716.1	+	2	603	c.518C>G	c.(517-519)cCc>cGc	p.P173R	NPY4R_ENST00000374312.1_Missense_Mutation_p.P173R			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	173					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.P173L(1)									CTCTCCCTGCCCTTCCTGGCC	0.567																																						dbGAP											1	Substitution - Missense(1)	lung(1)											197.0	156.0	170.0					10																	47087301		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.518C>G	10.37:g.47087301C>G	ENSP00000379066:p.Pro173Arg		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.P173R	ENST00000395716.1	37	c.518	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068709	0.76301	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.51325	0.71;0.71	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84272	0.0489	10	0.87932	D	0	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	173	P50391	NPY4R_HUMAN	R	173	ENSP00000363431:P173R;ENSP00000379066:P173R	ENSP00000363431:P173R	P	+	2	0	PPYR1	46507307	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.493000	0.81493	2.464000	0.83262	0.609000	0.83330	CCC	PPYR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204174		0.567	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	50	0.00	0	C			47087301	47087301	+1	no_errors	ENST00000374312	ensembl	human	known	69_37n	missense	315	10.76	38	SNP	1.000	G
PCDH15	65217	genome.wustl.edu	37	10	55626527	55626527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr10:55626527C>A	ENST00000320301.6	-	27	3986	c.3592G>T	c.(3592-3594)Gaa>Taa	p.E1198*	PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1161*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1203*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E809*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1176*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1127*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1205*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E1205*|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1198	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTATATGTTTCCACTACAAAT	0.398										HNSCC(58;0.16)																												dbGAP											0													165.0	147.0	153.0					10																	55626527		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3592G>T	10.37:g.55626527C>A	ENSP00000322604:p.Glu1198*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1198*	ENST00000320301.6	37	c.3592	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.149344	0.99640	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.1997	0.93707	0.0:1.0:0.0:0.0	.	.	.	.	X	1205;1203;1198;1198;809;1205;1161;1198;1176;1198;1198;1203;1127	.	ENSP00000322604:E1198X	E	-	1	0	PCDH15	55296533	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.818000	0.86416	2.640000	0.89533	0.655000	0.94253	GAA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	225	0.00	0	C	NM_033056		55626527	55626527	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	nonsense	154	24.51	50	SNP	1.000	A
PRKAG2	51422	genome.wustl.edu	37	7	151573642	151573642	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr7:151573642C>T	ENST00000287878.4	-	1	568	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	22					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TTTTTCTTGCCGCCGCTCCCG	0.592																																						dbGAP											0													73.0	77.0	76.0					7																	151573642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.64G>A	7.37:g.151573642C>T	ENSP00000287878:p.Gly22Ser		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.G22S	ENST00000287878.4	37	c.64	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468101	0.43839	.	.	ENSG00000106617	ENST00000287878	D	0.84730	-1.89	4.12	2.23	0.28157	.	0.340710	0.26883	N	0.022010	T	0.68778	0.3038	N	0.19112	0.55	0.80722	D	1	B;B	0.24132	0.098;0.039	B;B	0.15870	0.014;0.01	T	0.57602	-0.7783	10	0.17369	T	0.5	.	6.9645	0.24615	0.0:0.7779:0.0:0.2221	.	22;22	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	S	22	ENSP00000287878:G22S	ENSP00000287878:G22S	G	-	1	0	PRKAG2	151204575	0.720000	0.27996	1.000000	0.80357	0.990000	0.78478	-0.329000	0.07935	0.944000	0.37579	0.449000	0.29647	GGC	PRKAG2	-	NULL	ENSG00000106617		0.592	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	15	0.00	0	C	NM_016203		151573642	151573642	-1	no_errors	ENST00000287878	ensembl	human	known	69_37n	missense	57	27.85	22	SNP	0.997	T
TAF1	6872	genome.wustl.edu	37	X	70598836	70598836	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chrX:70598836C>T	ENST00000373790.4	+	8	1363	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	TAF1_ENST00000449580.1_Missense_Mutation_p.P438S|TAF1_ENST00000423759.1_Missense_Mutation_p.P459S|TAF1_ENST00000276072.3_Missense_Mutation_p.P459S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	438					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGGCTGGCTTCCTTCTAGCAT	0.507																																						dbGAP											0													188.0	140.0	156.0					X																	70598836		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1312C>T	X.37:g.70598836C>T	ENSP00000362895:p.Pro438Ser		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P438S	ENST00000373790.4	37	c.1312	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	29.3	4.995534	0.93167	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.17213	2.29;2.38;2.42;2.37	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.69823	2.125	0.80722	D	1	P;D	0.89917	0.952;1.0	P;D	0.81914	0.878;0.995	T	0.30937	-0.9961	10	0.66056	D	0.02	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	438;459	P21675;P21675-2	TAF1_HUMAN;.	S	438;438;459;459	ENSP00000362895:P438S;ENSP00000389000:P438S;ENSP00000406549:P459S;ENSP00000276072:P459S	ENSP00000276072:P459S	P	+	1	0	TAF1	70515561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.429000	0.80309	2.498000	0.84270	0.513000	0.50165	CCT	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	67	0.00	0	C	NM_004606		70598836	70598836	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	226	30.03	97	SNP	1.000	T
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	8	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	60	16.67	12	SNP	0.994	A
TCEB3	6924	genome.wustl.edu	37	1	24077576	24077576	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr1:24077576A>G	ENST00000418390.2	+	4	830	c.559A>G	c.(559-561)Atg>Gtg	p.M187V	TCEB3_ENST00000609199.1_Missense_Mutation_p.M161V	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	187					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGTCACAGAATGTCACCAAC	0.483											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													130.0	116.0	121.0					1																	24077576		2203	4300	6503	-	-	-	SO:0001583	missense	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.559A>G	1.37:g.24077576A>G	ENSP00000395574:p.Met187Val	768	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.M187V	ENST00000418390.2	37	c.559	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.444379	0.01089	.	.	ENSG00000011007	ENST00000418390	T	0.06142	3.34	5.74	2.4	0.29515	.	1.362050	0.04645	N	0.406039	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	10	0.02654	T	1	-1.3721	6.4422	0.21856	0.2518:0.0:0.6077:0.1405	.	187	Q14241	ELOA1_HUMAN	V	187	ENSP00000395574:M187V	ENSP00000395574:M187V	M	+	1	0	TCEB3	23950163	0.109000	0.22037	0.007000	0.13788	0.966000	0.64601	0.722000	0.25925	0.762000	0.33152	-0.242000	0.12053	ATG	TCEB3	-	NULL	ENSG00000011007		0.483	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	13	0.00	0	A	NM_003198		24077576	24077576	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.001	G
ZNF592	9640	genome.wustl.edu	37	15	85325994	85325994	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr15:85325994delA	ENST00000560079.2	+	4	376	c.88delA	c.(88-90)atcfs	p.I30fs	ZNF592_ENST00000299927.3_Frame_Shift_Del_p.I30fs	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	30					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGGAGGCCATCCAGACACC	0.537																																						dbGAP											0													144.0	132.0	136.0					15																	85325994		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.88delA	15.37:g.85325994delA	ENSP00000452877:p.Ile30fs		Q2M1T2|Q504Y9	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I30fs	ENST00000560079.2	37	c.88	CCDS32317.1	15																																																																																			ZNF592	-	NULL	ENSG00000166716		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	33	0.00	0	A	NM_014630		85325994	85325994	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	frame_shift_del	75	23.76	24	DEL	1.000	-
ZRANB1	54764	genome.wustl.edu	37	10	126655277	126655277	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0W4-01A-11D-A10G-09	TCGA-BH-A0W4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fdafddde-aff1-42b4-bf94-a95861eacf53	7ec51376-daf4-4268-834b-55766654128e	g.chr10:126655277A>T	ENST00000359653.4	+	2	1300	c.929A>T	c.(928-930)gAt>gTt	p.D310V		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	310					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TCTGCCTTTGATGTTGGCTAT	0.438																																						dbGAP											0													277.0	201.0	227.0					10																	126655277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.929A>T	10.37:g.126655277A>T	ENSP00000352676:p.Asp310Val		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.D310V	ENST00000359653.4	37	c.929	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	A	32	5.139697	0.94560	.	.	ENSG00000019995	ENST00000359653	T	0.23552	1.9	5.9	5.9	0.94986	.	0.044334	0.85682	D	0.000000	T	0.48519	0.1504	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	P	0.60473	0.875	T	0.50759	-0.8790	10	0.87932	D	0	-10.7499	16.3322	0.83039	1.0:0.0:0.0:0.0	.	310	Q9UGI0	ZRAN1_HUMAN	V	310	ENSP00000352676:D310V	ENSP00000352676:D310V	D	+	2	0	ZRANB1	126645267	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	8.930000	0.92872	2.251000	0.74343	0.528000	0.53228	GAT	ZRANB1	-	NULL	ENSG00000019995		0.438	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	133	0.00	0	A	NM_017580		126655277	126655277	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	missense	390	23.23	118	SNP	1.000	T
