#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BGN	633	genome.wustl.edu	37	X	152771478	152771478	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chrX:152771478G>A	ENST00000331595.4	+	4	695	c.509G>A	c.(508-510)cGc>cAc	p.R170H	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	170					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACGACAACCGCATCCGCAAG	0.607																																						dbGAP											0													57.0	51.0	53.0					X																	152771478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.509G>A	X.37:g.152771478G>A	ENSP00000327336:p.Arg170His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R170H	ENST00000331595.4	37	c.509	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840093	0.71488	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.83992	0.21;-1.79;0.21	4.75	2.55	0.30701	.	0.214190	0.34628	N	0.003809	T	0.66761	0.2822	N	0.26130	0.795	0.38520	D	0.948708	P	0.44281	0.831	B	0.36504	0.226	T	0.67734	-0.5594	10	0.87932	D	0	-18.9845	4.6377	0.12531	0.504:0.0:0.496:0.0	.	170	P21810	PGS1_HUMAN	H	170;187;109;109	ENSP00000327336:R170H;ENSP00000402525:R187H;ENSP00000359223:R109H	ENSP00000327336:R170H	R	+	2	0	BGN	152424672	0.175000	0.23083	0.998000	0.56505	0.868000	0.49771	2.208000	0.42797	0.919000	0.36945	-0.344000	0.07964	CGC	BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000182492		0.607	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	93	0.00	0	G	NM_001711		152771478	152771478	+1	no_errors	ENST00000331595	ensembl	human	known	69_37n	missense	46	36.99	27	SNP	0.857	A
BRSK2	9024	genome.wustl.edu	37	11	1471018	1471018	+	Silent	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr11:1471018C>T	ENST00000528841.1	+	13	1623	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	BRSK2_ENST00000528710.1_Silent_p.I353I|BRSK2_ENST00000544817.1_Silent_p.I108I|BRSK2_ENST00000531197.1_Silent_p.I413I|BRSK2_ENST00000526678.1_Silent_p.I435I|BRSK2_ENST00000308219.9_Silent_p.I413I|BRSK2_ENST00000382179.1_Silent_p.I459I|BRSK2_ENST00000308230.5_Silent_p.I435I			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	413					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCGGTCCATCAGCGGTGCCT	0.682																																						dbGAP											0													64.0	74.0	71.0					11																	1471018		2048	4190	6238	-	-	-	SO:0001819	synonymous_variant	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1239C>T	11.37:g.1471018C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	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.I459	ENST00000528841.1	37	c.1377	CCDS58107.1	11																																																																																			BRSK2	-	superfamily_Kinase-like_dom	ENSG00000174672		0.682	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	78	0.00	0	C	NM_003957		1471018	1471018	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	silent	11	65.62	21	SNP	1.000	T
C6orf118	168090	genome.wustl.edu	37	6	165706931	165706931	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr6:165706931G>T	ENST00000230301.8	-	6	1111	c.1091C>A	c.(1090-1092)gCa>gAa	p.A364E	C6orf118_ENST00000543069.1_Missense_Mutation_p.A260E|C6orf118_ENST00000494696.2_5'Flank	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	364										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGCAGCAATGCCACCTCCAT	0.443																																						dbGAP											0													277.0	233.0	248.0					6																	165706931		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1091C>A	6.37:g.165706931G>T	ENSP00000230301:p.Ala364Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.A364E	ENST00000230301.8	37	c.1091	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997830	0.02145	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14640	2.71;2.49	4.02	-8.03	0.01114	.	5.021920	0.00447	N	0.000085	T	0.01124	0.0037	N	0.25647	0.755	0.09310	N	1	B	0.25955	0.138	B	0.15870	0.014	T	0.39099	-0.9630	10	0.02654	T	1	5.2923	0.7987	0.01071	0.2068:0.2134:0.3175:0.2623	.	364	Q5T5N4	CF118_HUMAN	E	364;260	ENSP00000230301:A364E;ENSP00000439288:A260E	ENSP00000230301:A364E	A	-	2	0	C6orf118	165626921	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.188000	0.01249	-2.872000	0.00322	-0.251000	0.11542	GCA	C6orf118	-	NULL	ENSG00000112539		0.443	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	409	0.24	1	G	NM_144980		165706931	165706931	-1	no_errors	ENST00000230301	ensembl	human	known	69_37n	missense	206	35.62	114	SNP	0.000	T
CASP6	839	genome.wustl.edu	37	4	110610590	110610590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr4:110610590G>A	ENST00000265164.2	-	7	855	c.778C>T	c.(778-780)Cga>Tga	p.R260*	CASP6_ENST00000352981.3_Nonsense_Mutation_p.R171*|AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	260					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AAGTCCACTCGGCGCTGAGAA	0.423																																						dbGAP											0													72.0	77.0	75.0					4																	110610590		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.778C>T	4.37:g.110610590G>A	ENSP00000265164:p.Arg260*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE7	Nonsense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R260*	ENST00000265164.2	37	c.778	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.506055	0.96386	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	6.17	5.26	0.73747	.	0.258579	0.44285	D	0.000471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	3.9926	0.09543	0.0836:0.1177:0.5647:0.2341	.	.	.	.	X	171;260	.	ENSP00000265164:R260X	R	-	1	2	CASP6	110830039	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.334000	0.43920	2.941000	0.99782	0.655000	0.94253	CGA	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10	ENSG00000138794		0.423	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	195	0.00	0	G	NM_001226		110610590	110610590	-1	no_errors	ENST00000265164	ensembl	human	known	69_37n	nonsense	115	37.84	70	SNP	0.997	A
CDKL1	8814	genome.wustl.edu	37	14	50862547	50862547	+	Missense_Mutation	SNP	A	A	T	rs542432977		TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr14:50862547A>T	ENST00000216378.2	-	2	687	c.43T>A	c.(43-45)Tcc>Acc	p.S15T	CDKL1_ENST00000395834.1_Missense_Mutation_p.S15T|RP11-247L20.3_ENST00000556713.1_lincRNA|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	14	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACTCCATAGGATCCTTCTCCA	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													80.0	84.0	82.0					14																	50862547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.43T>A	14.37:g.50862547A>T	ENSP00000216378:p.Ser15Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	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.S15T	ENST00000216378.2	37	c.43		14	.	.	.	.	.	.	.	.	.	.	A	12.00	1.808013	0.31961	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.66460	-0.21;-0.21	4.34	3.17	0.36434	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57198	0.2037	L	0.28504	0.86	0.80722	D	1	P;P	0.45396	0.734;0.857	B;P	0.51777	0.203;0.679	T	0.56360	-0.7992	9	0.02654	T	1	.	9.8073	0.40801	0.8455:0.0:0.0:0.1544	.	204;14	Q00532-2;Q00532	.;CDKL1_HUMAN	T	15	ENSP00000379176:S15T;ENSP00000216378:S15T	ENSP00000216378:S15T	S	-	1	0	CDKL1	49932297	1.000000	0.71417	0.996000	0.52242	0.388000	0.30384	6.882000	0.75589	0.762000	0.33152	-0.496000	0.04628	TCC	CDKL1	-	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	ENSG00000100490		0.398	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	CDKL1	HGNC	protein_coding	OTTHUMT00000382103.1	232	0.00	0	A			50862547	50862547	-1	no_errors	ENST00000395834	ensembl	human	known	69_37n	missense	161	40.81	111	SNP	1.000	T
CSAG1	158511	genome.wustl.edu	37	X	151908833	151908833	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chrX:151908833G>C	ENST00000370287.3	+	4	400	c.72G>C	c.(70-72)tgG>tgC	p.W24C	CSAG1_ENST00000452779.2_Missense_Mutation_p.W24C|CSAG1_ENST00000370291.2_Missense_Mutation_p.W24C	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	24										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGACTGGAGTAGACTGT	0.522																																						dbGAP											0													217.0	201.0	206.0					X																	151908833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.72G>C	X.37:g.151908833G>C	ENSP00000359310:p.Trp24Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE22	Missense_Mutation	SNP	NULL	p.W24C	ENST00000370287.3	37	c.72	CCDS14711.1	X	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734682	0.03111	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.61627	0.81;0.81;0.09	0.837	-1.65	0.08291	.	.	.	.	.	T	0.40979	0.1139	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30765	-0.9967	7	0.87932	D	0	.	.	.	.	.	24	Q6PB30	CSAG1_HUMAN	C	24	ENSP00000359310:W24C;ENSP00000396520:W24C;ENSP00000359314:W24C	ENSP00000359310:W24C	W	+	3	0	CSAG1	151659489	0.120000	0.22244	0.000000	0.03702	0.009000	0.06853	-0.070000	0.11523	-0.770000	0.04614	-1.160000	0.01791	TGG	CSAG1	-	NULL	ENSG00000198930		0.522	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSAG1	HGNC	protein_coding	OTTHUMT00000058760.2	756	0.00	0	G	NM_153479		151908833	151908833	+1	no_errors	ENST00000370287	ensembl	human	known	69_37n	missense	412	38.60	259	SNP	0.000	C
CSMD3	114788	genome.wustl.edu	37	8	113237127	113237127	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr8:113237127G>A	ENST00000297405.5	-	71	11241	c.10997C>T	c.(10996-10998)tCa>tTa	p.S3666L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3497L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3626L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3596L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3666						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCATGAACTGAACATCCTGT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													338.0	306.0	317.0					8																	113237127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10997C>T	8.37:g.113237127G>A	ENSP00000297405:p.Ser3666Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S3666L	ENST00000297405.5	37	c.10997	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446047	0.84101	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26067	2.07;2.07;2.09;1.76;2.08	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000005	T	0.49304	0.1549	L	0.54323	1.7	0.58432	D	0.999998	D;D;B	0.69078	0.997;0.994;0.024	D;D;B	0.79784	0.993;0.983;0.029	T	0.45833	-0.9234	10	0.72032	D	0.01	.	19.4694	0.94956	0.0:0.0:1.0:0.0	.	3497;3666;3626	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3626;3666;2936;3497;3596	ENSP00000345799:S3626L;ENSP00000297405:S3666L;ENSP00000341558:S2936L;ENSP00000412263:S3497L;ENSP00000343124:S3596L	ENSP00000297405:S3666L	S	-	2	0	CSMD3	113306303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.856000	0.86956	2.587000	0.87381	0.591000	0.81541	TCA	CSMD3	-	NULL	ENSG00000164796		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	1062	0.00	0	G	NM_052900		113237127	113237127	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	1579	15.27	285	SNP	1.000	A
GOLGA8G	283768	genome.wustl.edu	37	15	28771127	28771127	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr15:28771127C>G	ENST00000525590.2	-	13	1238	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	GOLGA8G_ENST00000329523.6_Intron|RN7SL829P_ENST00000489494.2_RNA|AC138749.1_ENST00000458870.1_RNA			Q08AF8	GOG8F_HUMAN	golgin A8 family, member G	175						Golgi apparatus (GO:0005794)				lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		CTCTTGTTCTCATTGTTCTGG	0.557																																						dbGAP											0													1.0	1.0	1.0					15																	28771127		239	634	873	-	-	-	SO:0001583	missense	0					15q13.1	2013-01-17	2010-02-12		ENSG00000183629	ENSG00000183629			25328	other	unknown			"""golgi autoantigen, golgin subfamily a, 8G"""			12477932	Standard	NR_033353		Approved	DKFZp434K052		Q08AF8	OTTHUMG00000167134	ENST00000525590.2:c.1177G>C	15.37:g.28771127C>G	ENSP00000458130:p.Glu393Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	NULL	p.E393Q	ENST00000525590.2	37	c.1177		15																																																																																			GOLGA8G	-	NULL	ENSG00000183629		0.557	GOLGA8G-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8G	HGNC	protein_coding	OTTHUMT00000393332.2	177	0.00	0	C	NR_033353.1		28771127	28771127	-1	no_errors	ENST00000416855	ensembl	human	known	69_37n	missense	127	22.09	36	SNP	1.000	G
GRAMD2	196996	genome.wustl.edu	37	15	72456002	72456002	+	Missense_Mutation	SNP	C	C	T	rs544595021		TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr15:72456002C>T	ENST00000309731.7	-	9	710	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	233						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTGGAGTCCACGGATGATGGA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19445	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													108.0	94.0	99.0					15																	72456002		2199	4297	6496	-	-	-	SO:0001583	missense	0			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.697G>A	15.37:g.72456002C>T	ENSP00000311657:p.Val233Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.V233M	ENST00000309731.7	37	c.697	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.039683	0.00402	.	.	ENSG00000175318	ENST00000309731	T	0.33654	1.4	5.34	-1.45	0.08828	.	1.534610	0.03363	N	0.197897	T	0.21186	0.0510	N	0.12182	0.205	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.22521	-1.0214	10	0.46703	T	0.11	.	6.3759	0.21507	0.0:0.4853:0.1642:0.3505	.	233	Q8IUY3	GRAM2_HUMAN	M	233	ENSP00000311657:V233M	ENSP00000311657:V233M	V	-	1	0	GRAMD2	70243056	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.228000	0.02948	-0.277000	0.09193	-0.345000	0.07892	GTG	GRAMD2	-	NULL	ENSG00000175318		0.537	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	226	0.00	0	C	NM_001012642		72456002	72456002	-1	no_errors	ENST00000309731	ensembl	human	known	69_37n	missense	119	42.79	89	SNP	0.000	T
HCAR2	338442	genome.wustl.edu	37	12	123187710	123187710	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr12:123187710C>G	ENST00000328880.5	-	1	180	c.121G>C	c.(121-123)Ggg>Cgg	p.G41R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	41					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CCCAGAAGCCCGAAGATAAAC	0.507																																						dbGAP											0													73.0	70.0	71.0					12																	123187710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.121G>C	12.37:g.123187710C>G	ENSP00000375066:p.Gly41Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.G41R	ENST00000328880.5	37	c.121	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297443	0.81025	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.53857	0.6	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	D	0.82614	0.5075	H	0.97315	3.98	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.88136	0.2841	10	0.87932	D	0	-26.8497	16.9239	0.86170	0.0:1.0:0.0:0.0	.	41	Q8TDS4	HCAR2_HUMAN	R	41	ENSP00000375066:G41R	ENSP00000375066:G41R	G	-	1	0	HCAR2	121753663	1.000000	0.71417	0.956000	0.39512	0.624000	0.37722	5.756000	0.68757	2.865000	0.98341	0.655000	0.94253	GGG	HCAR2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000182782		0.507	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	240	0.00	0	C	NM_177551		123187710	123187710	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	missense	150	38.02	92	SNP	1.000	G
HMG20A	10363	genome.wustl.edu	37	15	77759649	77759649	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr15:77759649G>A	ENST00000381714.3	+	5	878	c.450G>A	c.(448-450)caG>caA	p.Q150Q	HMG20A_ENST00000336216.4_Splice_Site_p.Q150Q	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	150					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGGAAAAACAGGTAATTGTTC	0.383																																						dbGAP											0													66.0	60.0	62.0					15																	77759649		2196	4294	6490	-	-	-	SO:0001630	splice_region_variant	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.450+1G>A	15.37:g.77759649G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q150	ENST00000381714.3	37	c.450	CCDS10295.1	15																																																																																			HMG20A	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000140382		0.383	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	118	0.00	0	G	NM_018200	Silent	77759649	77759649	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	silent	73	35.40	40	SNP	1.000	A
HS3ST2	9956	genome.wustl.edu	37	16	22926628	22926628	+	Silent	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr16:22926628C>T	ENST00000261374.3	+	2	1283	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	283					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		ACCCGGCCGGCGAGATGGGGC	0.532																																						dbGAP											0													99.0	102.0	101.0					16																	22926628		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.849C>T	16.37:g.22926628C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LZ1	Silent	SNP	pfam_Sulfotransferase_dom	p.G283	ENST00000261374.3	37	c.849	CCDS10606.1	16																																																																																			HS3ST2	-	pfam_Sulfotransferase_dom	ENSG00000122254		0.532	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	HGNC	protein_coding	OTTHUMT00000211598.1	108	0.00	0	C	NM_006043		22926628	22926628	+1	no_errors	ENST00000261374	ensembl	human	known	69_37n	silent	66	31.00	31	SNP	0.962	T
HSPA9	3313	genome.wustl.edu	37	5	137892185	137892185	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr5:137892185G>C	ENST00000297185.3	-	16	2043	c.1918C>G	c.(1918-1920)Ctt>Gtt	p.L640V	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	640					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCTGCTGAAGAGAGGATGCT	0.428																																						dbGAP											0													188.0	183.0	185.0					5																	137892185		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1918C>G	5.37:g.137892185G>C	ENSP00000297185:p.Leu640Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.L640V	ENST00000297185.3	37	c.1918	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588358	0.66105	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01484	4.84	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.58583	1.82	0.80722	D	1	B	0.18166	0.026	B	0.31686	0.134	T	0.41124	-0.9526	10	0.51188	T	0.08	-13.8095	13.9858	0.64334	0.0733:0.0:0.9267:0.0	.	640	P38646	GRP75_HUMAN	V	640;593;626	ENSP00000297185:L640V	ENSP00000297185:L640V	L	-	1	0	HSPA9	137920084	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.804000	0.62554	2.832000	0.97577	0.655000	0.94253	CTT	HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.428	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	518	0.00	0	G	NM_004134		137892185	137892185	-1	no_errors	ENST00000297185	ensembl	human	known	69_37n	missense	331	34.32	174	SNP	1.000	C
ICOSLG	23308	genome.wustl.edu	37	21	45656914	45656914	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr21:45656914C>T	ENST00000407780.3	-	3	369	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	ICOSLG_ENST00000400379.3_Missense_Mutation_p.R81Q|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Missense_Mutation_p.R81Q	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	81	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGCTCGGTTCCGGTAGCGGCT	0.567																																						dbGAP											0													60.0	83.0	75.0					21																	45656914		2148	4242	6390	-	-	-	SO:0001583	missense	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.242G>A	21.37:g.45656914C>T	ENSP00000384432:p.Arg81Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.R81Q	ENST00000407780.3	37	c.242	CCDS42952.1	21	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505652	0.26949	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	-3.04	0.05412	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.083790	0.07335	N	0.879827	T	0.49508	0.1561	L	0.48986	1.54	0.09310	N	1	P;P	0.35684	0.515;0.515	B;B	0.25405	0.06;0.06	T	0.37126	-0.9719	10	0.40728	T	0.16	.	11.0225	0.47726	0.0:0.2025:0.0:0.7975	.	81;81	A0N0L8;O75144	.;ICOSL_HUMAN	Q	81	ENSP00000339477:R81Q;ENSP00000384432:R81Q;ENSP00000383230:R81Q	ENSP00000339477:R81Q	R	-	2	0	ICOSLG	44481342	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	-0.401000	0.07232	-0.513000	0.06496	0.655000	0.94253	CGG	ICOSLG	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160223		0.567	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	317	0.31	1	C	NM_015259		45656914	45656914	-1	no_errors	ENST00000344330	ensembl	human	known	69_37n	missense	169	42.37	125	SNP	0.000	T
KALRN	8997	genome.wustl.edu	37	3	124017740	124017740	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr3:124017740C>A	ENST00000240874.3	+	6	1223	c.1066C>A	c.(1066-1068)Cac>Aac	p.H356N	KALRN_ENST00000460856.1_Missense_Mutation_p.H356N|KALRN_ENST00000360013.3_Missense_Mutation_p.H356N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	356					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGCACAATCACTTTGCCAT	0.552																																						dbGAP											0													150.0	135.0	140.0					3																	124017740		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1066C>A	3.37:g.124017740C>A	ENSP00000240874:p.His356Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.H356N	ENST00000240874.3	37	c.1066	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642012	0.67244	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.48836	0.8;0.8;0.8	5.41	5.41	0.78517	.	0.123818	0.53938	D	0.000050	T	0.62829	0.2460	L	0.52126	1.63	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.989	P;D;P	0.76575	0.861;0.988;0.782	T	0.51957	-0.8639	10	0.16420	T	0.52	.	19.3855	0.94554	0.0:1.0:0.0:0.0	.	356;356;356	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	N	356	ENSP00000418611:H356N;ENSP00000240874:H356N;ENSP00000353109:H356N	ENSP00000240874:H356N	H	+	1	0	KALRN	125500430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.808000	0.96608	0.655000	0.94253	CAC	KALRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160145		0.552	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	400	0.25	1	C	NM_003947		124017740	124017740	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	219	35.96	123	SNP	1.000	A
KCNN2	3781	genome.wustl.edu	37	5	113698868	113698868	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr5:113698868G>C	ENST00000512097.3	+	2	1414	c.396G>C	c.(394-396)aaG>aaC	p.K132N	KCNN2_ENST00000264773.3_Missense_Mutation_p.K132N|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	132					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AAAAGCGCAAGCGGCTCAGCG	0.607																																						dbGAP											0													39.0	40.0	39.0					5																	113698868		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.396G>C	5.37:g.113698868G>C	ENSP00000427120:p.Lys132Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.K132N	ENST00000512097.3	37	c.396	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018696	0.75275	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98777	-5.13;-5.13	5.44	4.57	0.56435	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99047	1.0826	10	0.44086	T	0.13	.	13.7732	0.63038	0.0748:0.0:0.9252:0.0	.	132	Q9H2S1	KCNN2_HUMAN	N	132	ENSP00000427120:K132N;ENSP00000264773:K132N	ENSP00000264773:K132N	K	+	3	2	KCNN2	113726767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.932000	0.56537	1.276000	0.44395	0.655000	0.94253	AAG	KCNN2	-	pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK	ENSG00000080709		0.607	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	33	0.00	0	G	NM_021614		113698868	113698868	+1	no_errors	ENST00000264773	ensembl	human	known	69_37n	missense	13	51.85	14	SNP	1.000	C
KIAA1524	57650	genome.wustl.edu	37	3	108276094	108276094	+	Silent	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr3:108276094C>T	ENST00000295746.8	-	17	2257	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	KIAA1524_ENST00000491772.1_Silent_p.L568L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	727					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGATTTTGTCAGTATTTCAT	0.383																																						dbGAP											0													123.0	123.0	123.0					3																	108276094		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2181G>A	3.37:g.108276094C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	superfamily_ARM-type_fold	p.L727	ENST00000295746.8	37	c.2181	CCDS33812.1	3																																																																																			KIAA1524	-	NULL	ENSG00000163507		0.383	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	500	0.00	0	C	NM_020890		108276094	108276094	-1	no_errors	ENST00000295746	ensembl	human	known	69_37n	silent	250	35.40	137	SNP	0.994	T
KIAA2018	205717	genome.wustl.edu	37	3	113377798	113377798	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr3:113377798C>A	ENST00000478658.1	-	5	2748	c.2731G>T	c.(2731-2733)Gat>Tat	p.D911Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.D911Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	911						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGGGTAGAATCTTTGGATTTT	0.433																																						dbGAP											0													195.0	176.0	182.0					3																	113377798		1867	4106	5973	-	-	-	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2731G>T	3.37:g.113377798C>A	ENSP00000420721:p.Asp911Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D911Y	ENST00000478658.1	37	c.2731	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995534	0.54147	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15487	2.42;2.42	5.36	4.43	0.53597	.	0.669254	0.15053	N	0.283207	T	0.20901	0.0503	L	0.29908	0.895	0.44359	D	0.997258	P	0.50943	0.94	P	0.49708	0.62	T	0.01791	-1.1273	10	0.42905	T	0.14	-10.4941	15.511	0.75782	0.0:0.8615:0.1385:0.0	.	911	Q68DE3	K2018_HUMAN	Y	911	ENSP00000320794:D911Y;ENSP00000420721:D911Y	ENSP00000320794:D911Y	D	-	1	0	KIAA2018	114860488	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.341000	0.43983	2.501000	0.84356	0.650000	0.86243	GAT	KIAA2018	-	NULL	ENSG00000176542		0.433	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	433	0.00	0	C	NM_001009899		113377798	113377798	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	missense	250	36.93	147	SNP	1.000	A
LBR	3930	genome.wustl.edu	37	1	225600340	225600340	+	Silent	SNP	A	A	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr1:225600340A>G	ENST00000338179.2	-	8	1025	c.900T>C	c.(898-900)taT>taC	p.Y300Y	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Silent_p.Y300Y	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	300					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGATAAAAGCATAGAATCCTT	0.373																																						dbGAP											0													39.0	40.0	40.0					1																	225600340		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.900T>C	1.37:g.225600340A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.Y300	ENST00000338179.2	37	c.900	CCDS1545.1	1																																																																																			LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000143815		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	70	0.00	0	A	NM_002296		225600340	225600340	-1	no_errors	ENST00000272163	ensembl	human	known	69_37n	silent	76	26.92	28	SNP	0.955	G
LHX5	64211	genome.wustl.edu	37	12	113905144	113905144	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr12:113905144C>T	ENST00000261731.3	-	4	1331	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	253					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CCGCGGACTCCGGAAGAAGGC	0.672																																						dbGAP											0													17.0	17.0	17.0					12																	113905144		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.758G>A	12.37:g.113905144C>T	ENSP00000261731:p.Arg253Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA4	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.R253Q	ENST00000261731.3	37	c.758	CCDS9171.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.853013	0.97030	.	.	ENSG00000089116	ENST00000261731	D	0.91686	-2.89	5.03	5.03	0.67393	.	0.000000	0.47852	D	0.000216	D	0.93468	0.7916	L	0.60845	1.875	0.80722	D	1	D	0.63046	0.992	P	0.55749	0.783	D	0.91923	0.5549	10	0.25751	T	0.34	.	17.9793	0.89136	0.0:1.0:0.0:0.0	.	253	Q9H2C1	LHX5_HUMAN	Q	253	ENSP00000261731:R253Q	ENSP00000261731:R253Q	R	-	2	0	LHX5	112389527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.982000	0.70532	2.325000	0.78763	0.561000	0.74099	CGG	LHX5	-	NULL	ENSG00000089116		0.672	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX5	HGNC	protein_coding	OTTHUMT00000404788.3	54	0.00	0	C	NM_022363		113905144	113905144	-1	no_errors	ENST00000261731	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	1.000	T
MRC2	9902	genome.wustl.edu	37	17	60767630	60767630	+	Silent	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr17:60767630C>T	ENST00000303375.5	+	26	4258	c.3856C>T	c.(3856-3858)Ctg>Ttg	p.L1286L	MRC2_ENST00000446119.2_Silent_p.L152L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1286	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAGCTGCTGCTGGGCCACAA	0.637																																						dbGAP											0													30.0	37.0	34.0					17																	60767630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3856C>T	17.37:g.60767630C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L1286	ENST00000303375.5	37	c.3856	CCDS11634.1	17																																																																																			MRC2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000011028		0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	74	0.00	0	C			60767630	60767630	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	silent	52	27.78	20	SNP	0.987	T
MUC5B	727897	genome.wustl.edu	37	11	1266823	1266823	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr11:1266823G>A	ENST00000529681.1	+	31	8771	c.8713G>A	c.(8713-8715)Gga>Aga	p.G2905R	MUC5B_ENST00000447027.1_Missense_Mutation_p.G2908R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2905	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGCGGCCGGAGGGGCCGT	0.687																																						dbGAP											0													5.0	6.0	6.0					11																	1266823		1613	3752	5365	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8713G>A	11.37:g.1266823G>A	ENSP00000436812:p.Gly2905Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2908R	ENST00000529681.1	37	c.8722	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	9.857	1.195270	0.22037	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.31	4.04	4.04	0.47022	.	.	.	.	.	T	0.42154	0.1190	M	0.67569	2.06	0.22940	N	0.998537	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.24835	-1.0149	9	0.87932	D	0	.	16.5608	0.84565	0.0:0.0:1.0:0.0	.	3488;2908	A7Y9J9;E9PBJ0	.;.	R	2905;2908;2877;2865	ENSP00000436812:G2905R;ENSP00000415793:G2908R	ENSP00000343037:G2877R	G	+	1	0	MUC5B	1223399	0.313000	0.24554	0.022000	0.16811	0.001000	0.01503	1.870000	0.39529	1.978000	0.57642	0.430000	0.28490	GGA	MUC5B	-	NULL	ENSG00000117983		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	177	0.00	0	G	XM_001126093		1266823	1266823	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	35	55.70	44	SNP	0.431	A
OR5L2	26338	genome.wustl.edu	37	11	55595297	55595297	+	Silent	SNP	G	G	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr11:55595297G>T	ENST00000378397.1	+	1	603	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGTTCCTGGTGGCCACTT	0.458										HNSCC(27;0.073)																												dbGAP											0													247.0	208.0	221.0					11																	55595297		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.603G>T	11.37:g.55595297G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L201	ENST00000378397.1	37	c.603	CCDS31511.1	11																																																																																			OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000205030		0.458	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	632	0.00	0	G	NM_001004739		55595297	55595297	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	silent	338	35.98	190	SNP	0.000	T
PEX7	5191	genome.wustl.edu	37	6	137147540	137147540	+	Missense_Mutation	SNP	C	C	G	rs374762520		TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr6:137147540C>G	ENST00000318471.4	+	3	353	c.272C>G	c.(271-273)tCg>tGg	p.S91W	PEX7_ENST00000367756.4_Missense_Mutation_p.S91W|PEX7_ENST00000541292.1_Missense_Mutation_p.S91W	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	91					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GGCGATGGCTCGCTGCAGCTC	0.478																																						dbGAP											0													134.0	116.0	122.0					6																	137147540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.272C>G	6.37:g.137147540C>G	ENSP00000315680:p.Ser91Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C0H5X6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S91W	ENST00000318471.4	37	c.272	CCDS5180.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362206	0.82353	.	.	ENSG00000112357	ENST00000367756;ENST00000541292;ENST00000318471	D;T;T	0.94650	-3.48;0.02;0.02	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.105915	0.64402	D	0.000004	D	0.97798	0.9277	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98366	1.0551	10	0.87932	D	0	-11.0034	19.4383	0.94807	0.0:1.0:0.0:0.0	.	91	O00628	PEX7_HUMAN	W	91	ENSP00000356730:S91W;ENSP00000441004:S91W;ENSP00000315680:S91W	ENSP00000315680:S91W	S	+	2	0	PEX7	137189233	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	5.491000	0.66887	2.589000	0.87451	0.655000	0.94253	TCG	PEX7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000112357		0.478	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX7	HGNC	protein_coding	OTTHUMT00000042387.2	210	0.00	0	C	NM_000288		137147540	137147540	+1	no_errors	ENST00000318471	ensembl	human	known	69_37n	missense	153	37.04	90	SNP	1.000	G
PIAS4	51588	genome.wustl.edu	37	19	4037695	4037695	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr19:4037695C>T	ENST00000262971.2	+	11	1470	c.1355C>T	c.(1354-1356)cCg>cTg	p.P452L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	452					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGCGGCCCGGTGGGCAGC	0.701																																						dbGAP											0													17.0	19.0	19.0					19																	4037695		2187	4284	6471	-	-	-	SO:0001583	missense	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1355C>T	19.37:g.4037695C>T	ENSP00000262971:p.Pro452Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.P452L	ENST00000262971.2	37	c.1355	CCDS12118.1	19	.	.	.	.	.	.	.	.	.	.	c	1.846	-0.466188	0.04476	.	.	ENSG00000105229	ENST00000262971	T	0.29142	1.58	3.02	-1.67	0.08238	.	22.652400	0.00885	N	0.002169	T	0.20659	0.0497	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14980	-1.0453	10	0.30078	T	0.28	0.3417	6.2073	0.20610	0.0:0.4943:0.0:0.5057	.	452	Q8N2W9	PIAS4_HUMAN	L	452	ENSP00000262971:P452L	ENSP00000262971:P452L	P	+	2	0	PIAS4	3988695	0.838000	0.29461	0.000000	0.03702	0.024000	0.10985	-0.188000	0.09642	-0.220000	0.09988	0.466000	0.42574	CCG	PIAS4	-	NULL	ENSG00000105229		0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	13	0.00	0	C	NM_015897		4037695	4037695	+1	no_errors	ENST00000262971	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	236	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	139	33.17	69	SNP	1.000	G
PLA2G3	50487	genome.wustl.edu	37	22	31532969	31532969	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr22:31532969A>G	ENST00000215885.3	-	5	1376	c.1124T>C	c.(1123-1125)aTt>aCt	p.I375T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	375					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCGGGGCCCAATCTGGTGCTC	0.657																																						dbGAP											0													37.0	36.0	37.0					22																	31532969		2194	4290	6484	-	-	-	SO:0001583	missense	0			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1124T>C	22.37:g.31532969A>G	ENSP00000215885:p.Ile375Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95768	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2	p.I375T	ENST00000215885.3	37	c.1124	CCDS13889.1	22	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705795	0.48412	.	.	ENSG00000100078	ENST00000215885	T	0.39997	1.05	5.62	5.62	0.85841	Phospholipase A2 (2);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.71581	2.175	0.42711	D	0.993641	D	0.89917	1.0	D	0.79784	0.993	T	0.67906	-0.5549	10	0.87932	D	0	-10.6775	14.059	0.64788	1.0:0.0:0.0:0.0	.	375	Q9NZ20	PA2G3_HUMAN	T	375	ENSP00000215885:I375T	ENSP00000215885:I375T	I	-	2	0	PLA2G3	29862969	1.000000	0.71417	0.620000	0.29132	0.138000	0.21146	5.015000	0.64035	2.151000	0.67156	0.533000	0.62120	ATT	PLA2G3	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2	ENSG00000100078		0.657	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G3	HGNC	protein_coding	OTTHUMT00000321938.1	82	0.00	0	A	NM_015715		31532969	31532969	-1	no_errors	ENST00000215885	ensembl	human	known	69_37n	missense	31	50.00	31	SNP	0.705	G
PTEN	5728	genome.wustl.edu	37	10	89653844	89653844	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr10:89653844delA	ENST00000371953.3	+	2	1499	c.142delA	c.(142-144)aacfs	p.N49fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	49	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.N48D(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGTATACAGGAACAATATTGA	0.279		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	prostate(14)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)											110.0	110.0	110.0					10																	89653844		2203	4295	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.142delA	10.37:g.89653844delA	ENSP00000361021:p.Asn49fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.N48fs	ENST00000371953.3	37	c.142	CCDS31238.1	10																																																																																			PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	301	0.00	0	A	NM_000314		89653844	89653844	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_del	212	34.15	111	DEL	1.000	-
RIOK2	55781	genome.wustl.edu	37	5	96503665	96503668	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	AGAA	AGAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr5:96503665_96503668delAGAA	ENST00000283109.3	-	8	968_971	c.900_903delTTCT	c.(898-903)gtttctfs	p.VS300fs	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Frame_Shift_Del_p.VS300fs	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	300	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGCCACTGGCAGAAACCTCCACAT	0.382																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.900_903delTTCT	5.37:g.96503665_96503668delAGAA	ENSP00000283109:p.Val300fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RDI3|Q9NUT0	Frame_Shift_Del	DEL	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.S301fs	ENST00000283109.3	37	c.903_900	CCDS4089.1	5																																																																																			RIOK2	-	NULL	ENSG00000058729		0.382	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	83	0.00	0	AGAA	NM_018343		96503665	96503668	-1	no_errors	ENST00000283109	ensembl	human	known	69_37n	frame_shift_del	39	33.90	20	DEL	0.995:1.000:0.999:0.991	-
SLC9A8	23315	genome.wustl.edu	37	20	48466163	48466163	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr20:48466163T>G	ENST00000361573.2	+	6	522	c.480T>G	c.(478-480)ttT>ttG	p.F160L	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.F160L|SLC9A8_ENST00000539601.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	160					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTGCTGTTTTTGGGACGGCAA	0.383																																						dbGAP											0													169.0	163.0	165.0					20																	48466163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.480T>G	20.37:g.48466163T>G	ENSP00000354966:p.Phe160Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F160L	ENST00000361573.2	37	c.480	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618806	0.28801	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.11604	2.76;2.76	5.55	-2.1	0.07210	Cation/H+ exchanger (1);	0.046291	0.85682	D	0.000000	T	0.04318	0.0119	N	0.10945	0.07	0.80722	D	1	B;B	0.21381	0.055;0.0	B;B	0.21917	0.037;0.003	T	0.45411	-0.9263	10	0.07644	T	0.81	.	11.0722	0.48010	0.0:0.4225:0.0:0.5775	.	160;160	Q9Y2E8-2;Q9Y2E8	.;SL9A8_HUMAN	L	160	ENSP00000416418:F160L;ENSP00000354966:F160L	ENSP00000354966:F160L	F	+	3	2	SLC9A8	47899570	1.000000	0.71417	0.987000	0.45799	0.678000	0.39670	0.637000	0.24659	-0.418000	0.07450	-0.425000	0.05940	TTT	SLC9A8	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.383	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	671	0.00	0	T	XM_030524		48466163	48466163	+1	no_errors	ENST00000417961	ensembl	human	known	69_37n	missense	363	37.52	218	SNP	0.995	G
RTEL1	51750	genome.wustl.edu	37	20	62322279	62322279	+	Silent	SNP	G	G	C			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr20:62322279G>C	ENST00000360203.5	+	27	2860	c.2535G>C	c.(2533-2535)gcG>gcC	p.A845A	RTEL1_ENST00000508582.2_Silent_p.A869A|RTEL1_ENST00000318100.4_Silent_p.A845A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A845A|RTEL1_ENST00000370003.1_Silent_p.A90A|RTEL1_ENST00000370018.3_Silent_p.A845A					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AACAGCGGGCGGGGAGCCCTG	0.682																																						dbGAP											0													14.0	16.0	15.0					20																	62322279		2101	4201	6302	-	-	-	SO:0001819	synonymous_variant	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2535G>C	20.37:g.62322279G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A845	ENST00000360203.5	37	c.2535		20																																																																																			RTEL1	-	NULL	ENSG00000258366		0.682	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	27	0.00	0	G	NM_032957		62322279	62322279	+1	no_errors	ENST00000318100	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.000	C
SLCO1B3	28234	genome.wustl.edu	37	12	21028168	21028168	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr12:21028168G>A	ENST00000381545.3	+	9	946		c.e9-1		LST3_ENST00000540229.1_Splice_Site|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Splice_Site|SLCO1B3_ENST00000553473.1_Splice_Site|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GTTTCTCCTAGGCACTATCAG	0.388																																						dbGAP											0													204.0	208.0	207.0					12																	21028168		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.728-1G>A	12.37:g.21028168G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EMT8|Q5JAR4	Splice_Site	SNP	-	e7-1	ENST00000381545.3	37	c.728-1	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812096	0.16537	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8538	0.63513	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B3;RP11-545J16.1	20919435	1.000000	0.71417	0.042000	0.18584	0.063000	0.16089	7.370000	0.79589	2.034000	0.60081	0.461000	0.40582	.	SLCO1B3	-	-	ENSG00000111700		0.388	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	777	0.00	0	G	NM_019844	Intron	21028168	21028168	+1	no_errors	ENST00000553473	ensembl	human	known	69_37n	splice_site	524	33.16	260	SNP	0.906	A
SMARCC1	6599	genome.wustl.edu	37	3	47719705	47719705	+	Silent	SNP	A	A	G			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr3:47719705A>G	ENST00000254480.5	-	16	1673	c.1554T>C	c.(1552-1554)gaT>gaC	p.D518D	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	518	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAGCACACACATCTCCAGTCA	0.378																																						dbGAP											0													157.0	153.0	154.0					3																	47719705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1554T>C	3.37:g.47719705A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.D518	ENST00000254480.5	37	c.1554	CCDS2758.1	3																																																																																			SMARCC1	-	pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM	ENSG00000173473		0.378	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	330	0.00	0	A			47719705	47719705	-1	no_errors	ENST00000254480	ensembl	human	known	69_37n	silent	85	59.13	123	SNP	1.000	G
SNRNP25	79622	genome.wustl.edu	37	16	105793	105793	+	Silent	SNP	G	G	A			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr16:105793G>A	ENST00000383018.3	+	3	338	c.177G>A	c.(175-177)caG>caA	p.Q59Q	POLR3K_ENST00000293860.5_5'Flank|SNRNP25_ENST00000493672.1_Splice_Site	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	59	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						TTGTAGTGCAGAGTGCCACAG	0.562																																						dbGAP											0													102.0	82.0	88.0					16																	105793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.177G>A	16.37:g.105793G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1W6H3|Q6IEF8|Q9H5W4	Splice_Site	SNP	-	NULL	ENST00000383018.3	37	c.NULL	CCDS10396.1	16	.	.	.	.	.	.	.	.	.	.	g	5.717	0.316734	0.10845	.	.	ENSG00000161981	ENST00000417493	.	.	.	5.01	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6761	0.28486	0.1998:0.0:0.8002:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRNP25	45793	1.000000	0.71417	0.995000	0.50966	0.512000	0.34134	2.715000	0.47210	2.327000	0.79052	0.655000	0.94253	.	SNRNP25	-	-	ENSG00000161981		0.562	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNRNP25	HGNC	protein_coding		223	0.00	0	G	NM_024571		105793	105793	+1	no_errors	ENST00000493672	ensembl	human	known	69_37n	splice_site	141	35.62	78	SNP	1.000	A
SNRPB	6628	genome.wustl.edu	37	20	2451335	2451336	+	Start_Codon_Ins	INS	-	-	TG			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr20:2451335_2451336insTG	ENST00000438552.2	-	0	163_164				SNRPB_ENST00000339610.6_De_novo_Start_InFrame|SNRPB_ENST00000381342.2_Start_Codon_Ins|RP4-734P14.4_ENST00000461548.1_Intron	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1						gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCCTTACCATGGTGGCGGTT	0.639																																						dbGAP											0																																										-	-	-	SO:0001582	initiator_codon_variant	0				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.0_1dupCA	20.37:g.2451336_2451337dupTG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15490|Q6IB35|Q9UIS5	Frame_Shift_Ins	INS	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.M1fs	ENST00000438552.2	37	c.2_1	CCDS13026.1	20																																																																																			SNRPB	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000125835		0.639	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNRPB	HGNC	protein_coding	OTTHUMT00000077585.2	118	0.00	0	-			2451335	2451336	-1	no_errors	ENST00000438552	ensembl	human	known	69_37n	frame_shift_ins	70	30.69	31	INS	1.000:1.000	TG
TPI1	7167	genome.wustl.edu	37	12	6976710	6976710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr12:6976710C>T	ENST00000229270.4	+	1	428	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	31					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CACTGACCTTCAGCGCCTCGG	0.657																																						dbGAP											0													11.0	15.0	14.0					12																	6976710		2197	4298	6495	-	-	-	SO:0001587	stop_gained	0				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.91C>T	12.37:g.6976710C>T	ENSP00000229270:p.Gln31*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Nonsense_Mutation	SNP	pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase	p.Q31*	ENST00000229270.4	37	c.91	CCDS53740.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.118536	0.98074	.	.	ENSG00000111669	ENST00000229270	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.3578	0.60638	0.1578:0.8421:0.0:0.0	.	.	.	.	X	31	.	ENSP00000229270:Q31X	Q	+	1	0	TPI1	6846971	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	4.033000	0.57282	2.415000	0.81967	0.542000	0.68232	CAG	TPI1	-	NULL	ENSG00000111669		0.657	TPI1-001	KNOWN	basic|CCDS	protein_coding	TPI1	HGNC	protein_coding	OTTHUMT00000258252.1	11	0.00	0	C	NM_000365		6976710	6976710	+1	no_errors	ENST00000229270	ensembl	human	known	69_37n	nonsense	19	32.14	9	SNP	0.995	T
UNCX	340260	genome.wustl.edu	37	7	1273287	1273288	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-B6-A0WW-01A-11D-A10G-09	TCGA-B6-A0WW-10A-01D-A10G-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9d6f59d-7d87-4fda-ab6f-e9c2501b8600	1d66ccf6-8c14-405d-a686-07122687567f	g.chr7:1273287_1273288GA>AC	ENST00000316333.8	+	2	517_518	c.406_407GA>AC	c.(406-408)GAg>ACg	p.E136T		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	136					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTCATGCGCGAGGCGCTGGCG	0.678																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	Exception_encountered	7.37:g.1273287_1273288delinsAC	ENSP00000314480:p.Glu136Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D221	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E136K|p.E136A	ENST00000316333.8	37	c.406|c.407	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000164853		0.678	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	45|47	0.00	0	G|A	NM_001080461		1273287|1273288	1273287|1273288	+1	no_errors	ENST00000316333	ensembl	human	known	69_37n	missense	31|32	40.38|39.62	21	SNP	1.000	A|C
