#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACAP3	116983	genome.wustl.edu	37	1	1231134	1231134	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:1231134C>G	ENST00000354700.5	-	18	1889	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	ACAP3_ENST00000353662.3_Missense_Mutation_p.V521L|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	563					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGCGGCCACACAGGGCAGA	0.711																																																	0													15.0	19.0	18.0					1																	1231134		2187	4286	6473	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1687G>C	1.37:g.1231134C>G	ENSP00000346733:p.Val563Leu		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V521L	ENST00000354700.5	37	c.1561	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.561051	0.03939	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.26067	1.76;1.86	4.64	0.179	0.15063	.	1.766790	0.03361	N	0.197587	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18618	-1.0331	10	0.15952	T	0.53	.	4.4378	0.11559	0.102:0.4063:0.3458:0.1458	.	563;521	Q96P50;Q96P50-1	ACAP3_HUMAN;.	L	563;521	ENSP00000346733:V563L;ENSP00000321139:V521L	ENSP00000321139:V521L	V	-	1	0	ACAP3	1220997	0.001000	0.12720	0.058000	0.19502	0.017000	0.09413	-0.246000	0.08878	0.044000	0.15775	0.430000	0.28490	GTG	ACAP3	-	NULL		0.711	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	C	NM_030649		1231134	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	0.016	G
ACIN1	22985	genome.wustl.edu	37	14	23537773	23537773	+	Intron	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:23537773G>T	ENST00000262710.1	-	9	2767				ACIN1_ENST00000557515.1_Intron|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Intron|ACIN1_ENST00000338631.6_Intron|ACIN1_ENST00000397341.3_Intron|ACIN1_ENST00000605057.1_Intron|ACIN1_ENST00000357481.2_Intron	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACTTGGCTCTGATTGGGCAGC	0.572											OREG0022596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2439+911C>A	14.37:g.23537773G>T		764	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	RNA	SNP	-	NULL	ENST00000262710.1	37	NULL	CCDS9587.1	14																																																																																			ACIN1	-	-		0.572	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23537773	-1	no_errors	ENST00000555352	ensembl	human	known	70_37	rna	SNP	1.000	T
ACTBL2	345651	genome.wustl.edu	37	5	56778417	56778417	+	Nonsense_Mutation	SNP	G	G	A	rs139028085	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:56778417G>A	ENST00000423391.1	-	1	219	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	40						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCTGGTGTCGAGGACGCCCT	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20993	0.0		0.0	False		,,,				2504	0.0																0								G	stop/ARG	15,4391	20.2+/-43.8	0,15,2188	85.0	59.0	68.0		118	4.1	1.0	5	dbSNP_134	68	0,8600		0,0,4300	yes	stop-gained	ACTBL2	NM_001017992.2		0,15,6488	AA,AG,GG		0.0,0.3404,0.1153		40/377	56778417	15,12991	2203	4300	6503	SO:0001587	stop_gained	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.118C>T	5.37:g.56778417G>A	ENSP00000416706:p.Arg40*		B2RPJ1|Q562R2|Q562S9|Q562X8	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R40*	ENST00000423391.1	37	c.118	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.100530	0.94245	0.003404	0.0	ENSG00000169067	ENST00000423391	.	.	.	5.0	4.06	0.47325	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9399	0.41574	0.0:0.0:0.7023:0.2977	.	.	.	.	X	40	.	ENSP00000416706:R40X	R	-	1	2	ACTBL2	56814174	0.453000	0.25721	0.994000	0.49952	0.896000	0.52359	0.930000	0.28858	2.593000	0.87608	0.563000	0.77884	CGA	ACTBL2	-	pfam_Actin-like,smart_Actin-like		0.587	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	G	NM_001017992		56778417	-1	no_errors	ENST00000423391	ensembl	human	known	70_37	nonsense	SNP	0.999	A
ADAM21P1	145241	genome.wustl.edu	37	14	70712497	70712497	+	RNA	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:70712497G>A	ENST00000530196.1	-	0	2021					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TGACAAGACAGACAGACTGAC	0.483																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712497G>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.483	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	G	NG_002467		70712497	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.312	A
ADAMTS7	11173	genome.wustl.edu	37	15	79065434	79065434	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:79065434C>T	ENST00000388820.4	-	14	2332	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	708	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCCAGGCCCTCGGCCTCCTCG	0.662																																																	0													8.0	9.0	9.0					15																	79065434		1988	3997	5985	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2122G>A	15.37:g.79065434C>T	ENSP00000373472:p.Glu708Lys		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E708K	ENST00000388820.4	37	c.2122	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908295	0.92107	.	.	ENSG00000136378	ENST00000388820	T	0.51071	0.72	3.75	3.75	0.43078	ADAM-TS Spacer 1 (1);	0.063181	0.64402	D	0.000009	T	0.59702	0.2213	L	0.45581	1.43	0.52099	D	0.999941	D;D	0.89917	0.995;1.0	D;D	0.78314	0.936;0.991	T	0.58002	-0.7713	10	0.34782	T	0.22	.	14.6305	0.68653	0.0:1.0:0.0:0.0	.	708;708	A8MQ00;Q9UKP4	.;ATS7_HUMAN	K	708	ENSP00000373472:E708K	ENSP00000373472:E708K	E	-	1	0	ADAMTS7	76852489	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	5.621000	0.67743	2.074000	0.62210	0.471000	0.43371	GAG	ADAMTS7	-	pfam_ADAM_spacer1		0.662	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	C	NM_014272		79065434	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS17	170691	genome.wustl.edu	37	15	100589078	100589078	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:100589078G>A	ENST00000268070.4	-	18	2680	c.2575C>T	c.(2575-2577)Cac>Tac	p.H859Y		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	859	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGCAGGGGTGCAAGTTGCAC	0.572																																																	0													113.0	99.0	104.0					15																	100589078		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2575C>T	15.37:g.100589078G>A	ENSP00000268070:p.His859Tyr		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.H859Y	ENST00000268070.4	37	c.2575	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043697	0.75732	.	.	ENSG00000140470	ENST00000268070	T	0.61274	0.12	4.59	4.59	0.56863	.	0.198429	0.42682	D	0.000672	T	0.60327	0.2260	M	0.68952	2.095	0.80722	D	1	P	0.49783	0.928	B	0.42692	0.395	T	0.69723	-0.5068	10	0.72032	D	0.01	.	17.7748	0.88504	0.0:0.0:1.0:0.0	.	859	Q8TE56	ATS17_HUMAN	Y	859	ENSP00000268070:H859Y	ENSP00000268070:H859Y	H	-	1	0	ADAMTS17	98406601	1.000000	0.71417	0.274000	0.24659	0.965000	0.64279	8.911000	0.92721	2.250000	0.74265	0.655000	0.94253	CAC	ADAMTS17	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	G	NM_139057		100589078	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	0.995	A
ADAMTSL4	54507	genome.wustl.edu	37	1	150525459	150525459	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:150525459C>T	ENST00000369038.2	+	3	365	c.164C>T	c.(163-165)tCt>tTt	p.S55F	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S55F|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S55F|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S55F			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	55	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGTGGGCCTCTTGCTCCCAG	0.647																																																	0													30.0	36.0	34.0					1																	150525459		2197	4296	6493	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.164C>T	1.37:g.150525459C>T	ENSP00000358034:p.Ser55Phe		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.S55F	ENST00000369038.2	37	c.164	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037036	0.54896	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	4.63	3.7	0.42460	.	.	.	.	.	T	0.46698	0.1406	M	0.78456	2.415	0.30110	N	0.806648	P;P;P;P	0.38335	0.627;0.573;0.627;0.573	B;P;B;P	0.45167	0.422;0.472;0.394;0.472	T	0.50311	-0.8843	9	0.87932	D	0	.	9.0301	0.36254	0.0:0.8919:0.0:0.1081	.	55;55;55;55	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	F	55	ENSP00000358037:S55F;ENSP00000271643:S55F;ENSP00000358035:S55F;ENSP00000358034:S55F	ENSP00000271643:S55F	S	+	2	0	ADAMTSL4	148792083	0.023000	0.18921	1.000000	0.80357	0.977000	0.68977	1.542000	0.36137	2.115000	0.64714	0.561000	0.74099	TCT	ADAMTSL4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	C	NM_019032		150525459	+1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.997	T
ADIPOR2	79602	genome.wustl.edu	37	12	1882007	1882007	+	Splice_Site	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:1882007G>A	ENST00000357103.4	+	3	422		c.e3-1			NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2						adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TTGCCTTGCAGAGCTCTGAGG	0.428																																																	0													102.0	102.0	102.0					12																	1882007		2203	4300	6503	SO:0001630	splice_region_variant	79602			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.172-1G>A	12.37:g.1882007G>A			Q53YY5|Q9H737	Splice_Site	SNP	-	e2-1	ENST00000357103.4	37	c.172-1	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686238	0.47991	.	.	ENSG00000006831	ENST00000357103	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0374	0.97568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADIPOR2	1752268	1.000000	0.71417	0.993000	0.49108	0.650000	0.38633	7.976000	0.88070	2.739000	0.93911	0.655000	0.94253	.	ADIPOR2	-	-		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	G	NM_024551	Intron	1882007	+1	no_errors	ENST00000357103	ensembl	human	known	70_37	splice_site	SNP	0.996	A
AGAP1	116987	genome.wustl.edu	37	2	236649682	236649682	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:236649682C>T	ENST00000304032.8	+	4	966	c.386C>T	c.(385-387)cCg>cTg	p.P129L	AGAP1_ENST00000336665.5_Missense_Mutation_p.P129L|AGAP1_ENST00000409457.1_Missense_Mutation_p.P129L|AGAP1_ENST00000409538.1_Missense_Mutation_p.P394L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	129	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.P129L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGGGCCCCCCGGAGGCGCAG	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											72.0	73.0	73.0					2																	236649682		2203	4300	6503	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.386C>T	2.37:g.236649682C>T	ENSP00000307634:p.Pro129Leu		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.P129L	ENST00000304032.8	37	c.386	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.064353	0.93898	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86544	0.1830	10	0.87932	D	0	.	18.2419	0.89970	0.0:1.0:0.0:0.0	.	129;129	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	129;129;129;76;394	ENSP00000387174:P129L;ENSP00000307634:P129L;ENSP00000338378:P129L;ENSP00000385492:P76L;ENSP00000386897:P394L	ENSP00000307634:P129L	P	+	2	0	AGAP1	236314421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.678000	0.84035	2.357000	0.79964	0.561000	0.74099	CCG	AGAP1	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase		0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	C	NM_014914		236649682	+1	no_errors	ENST00000304032	ensembl	human	known	70_37	missense	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247061639	247061639	+	Splice_Site	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:247061639C>T	ENST00000391829.2	-	12	1618		c.e12-1		AHCTF1_ENST00000470300.1_Splice_Site|AHCTF1_ENST00000366508.1_Splice_Site|AHCTF1_ENST00000326225.3_Splice_Site			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAGTCAAAGTCTGTAACAGAT	0.289																																					Colon(145;197 1800 4745 15099 26333)												0													78.0	81.0	80.0					1																	247061639		2203	4300	6503	SO:0001630	splice_region_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1495-1G>A	1.37:g.247061639C>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Splice_Site	SNP	-	e12-1	ENST00000391829.2	37	c.1522-1		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051216	0.75960	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3616	0.94442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHCTF1	245128262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.190000	0.72057	2.568000	0.86640	0.650000	0.86243	.	AHCTF1	-	-		0.289	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446	Intron	247061639	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ALPK1	80216	genome.wustl.edu	37	4	113352413	113352413	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:113352413C>T	ENST00000458497.1	+	11	1989	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	ALPK1_ENST00000177648.9_Silent_p.F570F|ALPK1_ENST00000504176.2_Silent_p.F492F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	570							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAGCTGTTTTCAACAAGTCTC	0.493																																																	0													96.0	97.0	96.0					4																	113352413		2203	4300	6503	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1710C>T	4.37:g.113352413C>T			B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.F570	ENST00000458497.1	37	c.1710	CCDS3697.1	4																																																																																			ALPK1	-	NULL		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	C	NM_025144		113352413	+1	no_errors	ENST00000177648	ensembl	human	known	70_37	silent	SNP	0.000	T
AMOT	154796	genome.wustl.edu	37	X	112058973	112058973	+	Silent	SNP	T	T	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:112058973T>A	ENST00000524145.1	-	3	1079	c.1005A>T	c.(1003-1005)cgA>cgT	p.R335R	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.R335R|AMOT_ENST00000371962.1_Silent_p.R103R|AMOT_ENST00000371958.1_Silent_p.R103R			Q4VCS5	AMOT_HUMAN	angiomotin	335					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCAAGGGGTGTCGGGCAGGAG	0.577																																																	0													71.0	65.0	67.0					X																	112058973		692	1591	2283	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1005A>T	X.37:g.112058973T>A			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.R335	ENST00000524145.1	37	c.1005	CCDS48154.1	X																																																																																			AMOT	-	NULL		0.577	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	T	NM_133265		112058973	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	0.970	A
ARHGAP21	57584	genome.wustl.edu	37	10	24889722	24889722	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:24889722C>G	ENST00000396432.2	-	14	3471	c.2985G>C	c.(2983-2985)ttG>ttC	p.L995F	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.L782F	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	994	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGATGTCTATCAAGCAAGCAT	0.458																																																	0													95.0	92.0	93.0					10																	24889722		2202	4281	6483	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2985G>C	10.37:g.24889722C>G	ENSP00000379709:p.Leu995Phe		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L995F	ENST00000396432.2	37	c.2985	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650957	0.67472	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.67	-5.48	0.02592	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.75884	2.315	0.46167	D	0.998903	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.78645	-0.2123	10	0.72032	D	0.01	.	8.4786	0.33030	0.0:0.1499:0.4107:0.4394	.	985;994	F8W9U9;Q5T5U3	.;RHG21_HUMAN	F	995;782;985;995;830	ENSP00000379709:L995F;ENSP00000365604:L782F;ENSP00000365592:L985F;ENSP00000405018:L995F	ENSP00000365604:L782F	L	-	3	2	ARHGAP21	24929728	0.272000	0.24172	0.651000	0.29564	0.981000	0.71138	-0.267000	0.08619	-1.500000	0.01819	-0.136000	0.14681	TTG	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24889722	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	0.795	G
ARHGAP6	395	genome.wustl.edu	37	X	11308548	11308548	+	Intron	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:11308548G>A	ENST00000337414.4	-	2	1461				ARHGAP6_ENST00000380732.3_Silent_p.S213S|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_5'Flank|AMELX_ENST00000348912.4_5'Flank|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380712.3_5'Flank	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGTGTATCGGAATTCATCG	0.393																																																	0													136.0	131.0	132.0					X																	11308548		1847	4087	5934	SO:0001627	intron_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.589-35721C>T	X.37:g.11308548G>A			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S213	ENST00000337414.4	37	c.639	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.393	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11308548	-1	no_errors	ENST00000380732	ensembl	human	known	70_37	silent	SNP	0.000	A
ATRX	546	genome.wustl.edu	37	X	76939255	76939255	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:76939255C>G	ENST00000373344.5	-	9	1707	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R460T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	498					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCTTTTCTATCAGATTT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											185.0	188.0	187.0					X																	76939255		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1493G>C	X.37:g.76939255C>G	ENSP00000362441:p.Arg498Thr		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R498T	ENST00000373344.5	37	c.1493	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	2.396	-0.338643	0.05243	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91792	-2.91;-2.91	5.02	2.94	0.34122	.	0.860537	0.10092	N	0.717119	D	0.82628	0.5078	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.17268	0.006;0.003;0.021;0.006	B;B;B;B	0.21151	0.014;0.005;0.033;0.014	T	0.72184	-0.4367	10	0.23302	T	0.38	-3.9242	3.7211	0.08456	0.0:0.2434:0.3715:0.3851	.	498;459;460;498	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	T	498;460;454	ENSP00000362441:R498T;ENSP00000378967:R460T	ENSP00000362441:R498T	R	-	2	0	ATRX	76825911	0.997000	0.39634	1.000000	0.80357	0.963000	0.63663	0.403000	0.20982	0.773000	0.33404	0.496000	0.49642	AGA	ATRX	-	NULL		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76939255	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.953	G
BAI3	577	genome.wustl.edu	37	6	69728348	69728348	+	Silent	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:69728348G>T	ENST00000370598.1	+	13	2885	c.2064G>T	c.(2062-2064)ggG>ggT	p.G688G		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	688					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGGAATGGGGATGATGGACT	0.308																																																	0													140.0	147.0	145.0					6																	69728348		2203	4300	6503	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2064G>T	6.37:g.69728348G>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G688	ENST00000370598.1	37	c.2064	CCDS4968.1	6																																																																																			BAI3	-	pfam_DUF3497		0.308	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69728348	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	silent	SNP	0.985	T
BCL9L	283149	genome.wustl.edu	37	11	118772555	118772555	+	Missense_Mutation	SNP	C	C	T	rs34337307	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:118772555C>T	ENST00000334801.3	-	6	2861	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	633					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCTGGTCTCACGGGCCTCTGC	0.622													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19410	0.0		0.0	False		,,,				2504	0.0																0								C	MET/VAL	9,4391	15.5+/-35.6	0,9,2191	45.0	45.0	45.0		1897	4.6	1.0	11	dbSNP_126	45	0,8590		0,0,4295	yes	missense	BCL9L	NM_182557.2	21	0,9,6486	TT,TC,CC		0.0,0.2045,0.0693	possibly-damaging	633/1500	118772555	9,12981	2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1897G>A	11.37:g.118772555C>T	ENSP00000335320:p.Val633Met		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.V633M	ENST00000334801.3	37	c.1897	CCDS8403.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.97	1.796658	0.31777	0.002045	0.0	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64991	-0.13	4.59	4.59	0.56863	.	0.000000	0.39475	N	0.001357	T	0.63486	0.2515	L	0.36672	1.1	0.27335	N	0.956655	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.61048	-0.7141	10	0.59425	D	0.04	-22.5868	15.329	0.74190	0.0:1.0:0.0:0.0	rs34337307	628;633	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	M	633;596;633;633	ENSP00000335320:V633M	ENSP00000335320:V633M	V	-	1	0	BCL9L	118277765	0.837000	0.29446	0.999000	0.59377	0.510000	0.34073	1.616000	0.36933	2.377000	0.81083	0.313000	0.20887	GTG	BCL9L	-	NULL		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118772555	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	0.795	T
BEND3	57673	genome.wustl.edu	37	6	107391786	107391786	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:107391786C>T	ENST00000369042.1	-	4	799	c.609G>A	c.(607-609)ctG>ctA	p.L203L	BEND3_ENST00000429433.2_Silent_p.L203L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	203										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAGGGTGTTCAGCATGTAGA	0.572																																																	0													144.0	110.0	122.0					6																	107391786		2203	4300	6503	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.609G>A	6.37:g.107391786C>T			A2RRH2|Q9HCL9	Silent	SNP	pfam_BEN_domain	p.L203	ENST00000369042.1	37	c.609	CCDS34507.1	6																																																																																			BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107391786	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	silent	SNP	0.993	T
C16orf90	646174	genome.wustl.edu	37	16	3544829	3544829	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:3544829G>A	ENST00000437192.3	-	2	97	c.95C>T	c.(94-96)cCc>cTc	p.P32L	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	22										large_intestine(1)	1						GTAGATGTTGGGGGGTGCGTC	0.711																																																	0													13.0	15.0	15.0					16																	3544829		1859	4061	5920	SO:0001583	missense	646174				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.95C>T	16.37:g.3544829G>A	ENSP00000401335:p.Pro32Leu			Missense_Mutation	SNP	NULL	p.P32L	ENST00000437192.3	37	c.95	CCDS45397.1	16	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802907	0.31869	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.7	4.71	0.59529	.	0.000000	0.32444	U	0.006081	T	0.44519	0.1297	L	0.34521	1.04	0.40200	D	0.977507	B	0.13594	0.008	B	0.13407	0.009	T	0.37174	-0.9717	9	0.40728	T	0.16	-7.745	9.2956	0.37813	0.1064:0.0:0.8936:0.0	.	32	A8MZG2-2	.	L	32	.	ENSP00000401335:P32L	P	-	2	0	C16orf90	3484830	1.000000	0.71417	0.920000	0.36463	0.516000	0.34256	1.136000	0.31467	1.329000	0.45376	0.591000	0.81541	CCC	C16orf90	-	NULL		0.711	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf90	HGNC	protein_coding	OTTHUMT00000346319.2	G	NM_001080524		3544829	-1	no_errors	ENST00000437192	ensembl	human	known	70_37	missense	SNP	0.985	A
CFAP20	29105	genome.wustl.edu	37	16	58149340	58149340	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:58149340G>A	ENST00000262498.3	-	4	632	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	C16orf80_ENST00000562443.1_5'UTR|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGCGACGACGCACATTCTTG	0.512																																					Pancreas(103;1212 1612 18629 30162 52390)												0													114.0	101.0	105.0					16																	58149340		2198	4300	6498	SO:0001583	missense	29105																														ENST00000262498.3:c.298C>T	16.37:g.58149340G>A	ENSP00000262498:p.Arg100Cys			Missense_Mutation	SNP	pfam_DUF667	p.R100C	ENST00000262498.3	37	c.298	CCDS10793.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.589867	0.96590	.	.	ENSG00000070761	ENST00000262498	T	0.50548	0.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	P	0.58970	0.849	T	0.79198	-0.1902	10	0.59425	D	0.04	-7.144	17.4545	0.87603	0.0:0.0:1.0:0.0	.	100	Q9Y6A4	CP080_HUMAN	C	100	ENSP00000262498:R100C	ENSP00000262498:R100C	R	-	1	0	C16orf80	56706841	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.310000	0.78947	2.793000	0.96121	0.655000	0.94253	CGT	C16orf80	-	pfam_DUF667		0.512	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf80	HGNC	protein_coding	OTTHUMT00000257388.2	G			58149340	-1	no_errors	ENST00000262498	ensembl	human	known	70_37	missense	SNP	1.000	A
C17orf99	100141515	genome.wustl.edu	37	17	76160238	76160238	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:76160238G>A	ENST00000340363.5	+	4	488	c.433G>A	c.(433-435)Gag>Aag	p.E145K	C17orf99_ENST00000451352.3_3'UTR	NM_001163075.1	NP_001156547.1	Q6UX52	CQ099_HUMAN	chromosome 17 open reading frame 99	145						extracellular region (GO:0005576)											CCCCAGGGTGGAGATGATCTG	0.637																																																	0													46.0	50.0	49.0					17																	76160238		692	1591	2283	SO:0001583	missense	100141515			AY358510	CCDS54171.1	17q25.3	2012-10-23			ENSG00000187997	ENSG00000187997			34490	protein-coding gene	gene with protein product							Standard	NM_001163075		Approved	GLPG464, UNQ464	uc002jus.4	Q6UX52	OTTHUMG00000153871	ENST00000340363.5:c.433G>A	17.37:g.76160238G>A	ENSP00000343493:p.Glu145Lys			Missense_Mutation	SNP	NULL	p.E145K	ENST00000340363.5	37	c.433	CCDS54171.1	17	.	.	.	.	.	.	.	.	.	.	G	7.370	0.626587	0.14257	.	.	ENSG00000187997	ENST00000340363;ENST00000451352	T	0.15372	2.43	4.53	3.53	0.40419	.	0.581068	0.13980	N	0.349568	T	0.22437	0.0541	L	0.34521	1.04	0.09310	N	1	D;D	0.54207	0.965;0.965	P;P	0.53146	0.629;0.719	T	0.05699	-1.0869	10	0.72032	D	0.01	-17.8785	11.0077	0.47644	0.0:0.1886:0.8114:0.0	.	132;145	E7ESU9;Q6UX52	.;CQ099_HUMAN	K	145;132	ENSP00000343493:E145K	ENSP00000343493:E145K	E	+	1	0	C17orf99	73671833	0.084000	0.21492	0.014000	0.15608	0.317000	0.28152	1.216000	0.32443	0.992000	0.38840	0.460000	0.39030	GAG	C17orf99	-	NULL		0.637	C17orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf99	HGNC	protein_coding	OTTHUMT00000332775.1	G	NM_001163075		76160238	+1	no_errors	ENST00000340363	ensembl	human	known	70_37	missense	SNP	0.031	A
MROH8	140699	genome.wustl.edu	37	20	35752160	35752160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:35752160G>A	ENST00000400441.3	-	15	1827	c.1828C>T	c.(1828-1830)Cga>Tga	p.R610*	MROH8_ENST00000441008.2_Nonsense_Mutation_p.R596*|MROH8_ENST00000217333.8_Nonsense_Mutation_p.R439*			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GTAGCTGCTCGAAGCCTGTTT	0.483																																																	0													87.0	86.0	86.0					20																	35752160		2017	4179	6196	SO:0001587	stop_gained	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1828C>T	20.37:g.35752160G>A	ENSP00000383291:p.Arg610*		Q5JYQ6	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R610*	ENST00000400441.3	37	c.1828		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.712447|3.712447	0.68730|0.68730	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	.|.	.|.	.|.	5.4|5.4	3.37|3.37	0.38596|0.38596	.|.	0.575818|.	0.15897|.	N|.	0.239251|.	.|T	.|0.53417	.|0.1795	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61178	.|-0.7115	.|3	0.09590|.	T|.	0.72|.	-7.5797|-7.5797	10.7558|10.7558	0.46237|0.46237	0.0:0.0:0.6548:0.3452|0.0:0.0:0.6548:0.3452	.|.	.|.	.|.	.|.	X|L	596;610;439|237	.|.	ENSP00000217333:R439X|.	R|S	-|-	1|2	2|0	C20orf132|C20orf132	35185574|35185574	0.045000|0.045000	0.20229|0.20229	0.309000|0.309000	0.25155|0.25155	0.067000|0.067000	0.16453|0.16453	2.106000|2.106000	0.41835|0.41835	0.590000|0.590000	0.29694|0.29694	0.491000|0.491000	0.48974|0.48974	CGA|TCG	C20orf132	-	superfamily_ARM-type_fold		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		G	NM_152503		35752160	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	nonsense	SNP	0.081	A
CACNG8	59283	genome.wustl.edu	37	19	54466619	54466619	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:54466619G>C	ENST00000270458.2	+	1	326	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	75					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGCCTCGGAGAAGAAGGA	0.741																																																	0													10.0	11.0	11.0					19																	54466619		2178	4243	6421	SO:0001583	missense	59283			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.223G>C	19.37:g.54466619G>C	ENSP00000270458:p.Glu75Gln		Q9BXT0|Q9BY23	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.E75Q	ENST00000270458.2	37	c.223	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	G	6.707	0.499142	0.12762	.	.	ENSG00000142408	ENST00000270458	T	0.44881	0.91	3.66	3.66	0.41972	.	0.066997	0.56097	U	0.000031	T	0.22360	0.0539	N	0.08118	0	0.22156	N	0.999324	B	0.27380	0.177	B	0.18263	0.021	T	0.29912	-0.9996	9	0.37606	T	0.19	-3.9236	13.2311	0.59945	0.0:0.0:1.0:0.0	.	75	Q8WXS5	CCG8_HUMAN	Q	75	ENSP00000270458:E75Q	ENSP00000270458:E75Q	E	+	1	0	CACNG8	59158431	0.914000	0.31030	0.199000	0.23439	0.501000	0.33797	1.644000	0.37228	1.778000	0.52293	0.297000	0.19635	GAG	CACNG8	-	pfam_PMP22/EMP/MP20/Claudin		0.741	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3	G			54466619	+1	no_errors	ENST00000270458	ensembl	human	known	70_37	missense	SNP	0.974	C
CAGE1	285782	genome.wustl.edu	37	6	7386054	7386054	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:7386054C>T	ENST00000512086.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CAGE1_ENST00000509324.1_5'UTR|CAGE1_ENST00000502583.1_Missense_Mutation_p.E83K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E83K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E83K|CAGE1_ENST00000296742.7_5'UTR			Q8TC20	CAGE1_HUMAN	cancer antigen 1	83										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TAAGCATCTTCACAAAGTGTG	0.313																																																	0													391.0	329.0	348.0					6																	7386054		692	1589	2281	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.247G>A	6.37:g.7386054C>T	ENSP00000427583:p.Glu83Lys		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.E83K	ENST00000512086.1	37	c.247		6	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836518	0.16891	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.39	1.38	0.22167	.	0.242522	0.29389	N	0.012283	T	0.08891	0.0220	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	8	0.26408	T	0.33	-2.9982	5.4746	0.16688	0.0:0.6271:0.0:0.3729	.	.	.	.	K	83;83;83;83;83;83;95	ENSP00000369250:E83K;ENSP00000425493:E83K;ENSP00000427583:E83K;ENSP00000338107:E83K;ENSP00000423789:E95K	ENSP00000338107:E83K	E	-	1	0	CAGE1	7331053	0.426000	0.25506	0.032000	0.17829	0.019000	0.09904	0.434000	0.21494	0.498000	0.27948	0.655000	0.94253	GAA	CAGE1	-	NULL		0.313	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	C	NM_175745		7386054	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	missense	SNP	0.015	T
CAPZA3	93661	genome.wustl.edu	37	12	18891478	18891478	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:18891478C>A	ENST00000317658.3	+	1	434	c.276C>A	c.(274-276)ttC>ttA	p.F92L	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	92					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AACTTTCTTTCAAATATGACC	0.408																																																	0													77.0	74.0	75.0					12																	18891478		2203	4300	6503	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.276C>A	12.37:g.18891478C>A	ENSP00000326238:p.Phe92Leu		Q969J0	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.F92L	ENST00000317658.3	37	c.276	CCDS8681.1	12	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428765	0.43122	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.78049	2.395	0.49051	D	0.999744	D	0.69078	0.997	D	0.74348	0.983	T	0.74942	-0.3492	9	0.87932	D	0	-3.4496	8.1675	0.31235	0.0:0.8931:0.0:0.1069	.	92	Q96KX2	CAZA3_HUMAN	L	92	.	ENSP00000326238:F92L	F	+	3	2	CAPZA3	18782745	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	1.134000	0.31442	2.278000	0.76064	0.462000	0.41574	TTC	CAPZA3	-	pfam_WASH_F-actin_cap_alpha		0.408	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA3	HGNC	protein_coding	OTTHUMT00000401902.1	C	NM_033328		18891478	+1	no_errors	ENST00000317658	ensembl	human	known	70_37	missense	SNP	1.000	A
C19orf68	374920	genome.wustl.edu	37	19	48689853	48689853	+	Intron	SNP	C	C	T	rs556144540	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:48689853C>T	ENST00000328759.7	+	3	620				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000600800.1_5'UTR			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68						hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											ccaccacacccggccTGTACA	0.542													C|||	3	0.000599042	0.0	0.0	5008	,	,		19644	0.003		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	22900			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.588+3829C>T	19.37:g.48689853C>T				RNA	SNP	-	NULL	ENST00000328759.7	37	NULL		19																																																																																			CARD8	-	-		0.542	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	CARD8	HGNC	protein_coding	OTTHUMT00000465598.1	C	XM_001713770		48689853	-1	no_errors	ENST00000600800	ensembl	human	known	70_37	rna	SNP	0.034	T
CASZ1	54897	genome.wustl.edu	37	1	10699179	10699179	+	Missense_Mutation	SNP	G	G	C	rs546647724	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:10699179G>C	ENST00000377022.3	-	21	5417	c.5100C>G	c.(5098-5100)gaC>gaG	p.D1700E	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1700	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcgtcctcgtcgt	0.731													G|||	2	0.000399361	0.0	0.0	5008	,	,		2136	0.001		0.0	False		,,,				2504	0.001																0													6.0	6.0	6.0					1																	10699179		1794	3630	5424	SO:0001583	missense	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5100C>G	1.37:g.10699179G>C	ENSP00000366221:p.Asp1700Glu		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1700E	ENST00000377022.3	37	c.5100	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038460	0.19669	.	.	ENSG00000130940	ENST00000377022	T	0.11821	2.74	2.95	0.683	0.17998	.	0.133650	0.24470	U	0.038254	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35400	-0.9790	10	0.11485	T	0.65	-10.7492	3.1678	0.06541	0.2914:0.0:0.3955:0.3131	.	1700	Q86V15	CASZ1_HUMAN	E	1700	ENSP00000366221:D1700E	ENSP00000366221:D1700E	D	-	3	2	CASZ1	10621766	0.934000	0.31675	0.912000	0.35992	0.455000	0.32408	-0.094000	0.11094	0.336000	0.23639	0.195000	0.17529	GAC	CASZ1	-	NULL		0.731	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10699179	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	missense	SNP	0.941	C
CCKBR	887	genome.wustl.edu	37	11	6291485	6291485	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6291485G>A	ENST00000334619.2	+	3	764	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	CCKBR_ENST00000525462.1_Missense_Mutation_p.V191M|CCKBR_ENST00000532715.1_Missense_Mutation_p.V107M|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	191					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCCTACCCCGTGTACACTGT	0.657																																																	0													65.0	57.0	60.0					11																	6291485		2201	4296	6497	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.571G>A	11.37:g.6291485G>A	ENSP00000335544:p.Val191Met		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V191M	ENST00000334619.2	37	c.571	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507283	0.64410	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72505	-0.66;-0.66;-0.66	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.073509	0.53938	D	0.000046	T	0.80576	0.4649	M	0.67569	2.06	0.32873	D	0.509486	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.77557	0.969;0.894;0.99	D	0.84913	0.0849	10	0.87932	D	0	.	10.2312	0.43256	0.0916:0.0:0.9084:0.0	.	191;125;191	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	191;107;191	ENSP00000335544:V191M;ENSP00000432079:V107M;ENSP00000435534:V191M	ENSP00000335544:V191M	V	+	1	0	CCKBR	6248061	0.458000	0.25760	0.968000	0.41197	0.879000	0.50718	0.672000	0.25187	2.505000	0.84491	0.655000	0.94253	GTG	CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_GPCR_Rhodpsn		0.657	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	G	NM_176875		6291485	+1	no_errors	ENST00000525462	ensembl	human	known	70_37	missense	SNP	0.928	A
CD19	930	genome.wustl.edu	37	16	28950050	28950050	+	Missense_Mutation	SNP	C	C	A	rs561262269		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:28950050C>A	ENST00000324662.3	+	13	1584	c.1540C>A	c.(1540-1542)Cgc>Agc	p.R514S	CD19_ENST00000538922.1_Missense_Mutation_p.R515S|CD19_ENST00000567541.1_Missense_Mutation_p.R515S			P15391	CD19_HUMAN	CD19 molecule	514			R -> H (in dbSNP:rs34763945). {ECO:0000269|PubMed:2459292, ECO:0000269|PubMed:2472450}.		B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCAGCTCCGCTCCATTCG	0.607																																																	0													73.0	71.0	72.0					16																	28950050		2197	4300	6497	SO:0001583	missense	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1540C>A	16.37:g.28950050C>A	ENSP00000313419:p.Arg514Ser		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R515S	ENST00000324662.3	37	c.1543	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935837	0.73442	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.44482	0.92;0.92	5.09	4.07	0.47477	.	0.461095	0.18438	N	0.141218	T	0.42017	0.1184	L	0.27053	0.805	0.30749	N	0.745356	D;D	0.56746	0.977;0.961	P;P	0.55303	0.773;0.597	T	0.41538	-0.9503	10	0.72032	D	0.01	-9.6249	10.342	0.43884	0.1957:0.8043:0.0:0.0	.	515;514	F5H635;P15391	.;CD19_HUMAN	S	515;321;514;363	ENSP00000437940:R515S;ENSP00000313419:R514S	ENSP00000313419:R514S	R	+	1	0	CD19	28857551	0.736000	0.28164	0.980000	0.43619	0.976000	0.68499	0.717000	0.25851	2.524000	0.85096	0.591000	0.81541	CGC	CD19	-	NULL		0.607	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	C			28950050	+1	no_errors	ENST00000538922	ensembl	human	known	70_37	missense	SNP	0.960	A
CDCA2	157313	genome.wustl.edu	37	8	25341481	25341481	+	Splice_Site	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:25341481G>C	ENST00000330560.3	+	10	1597		c.e10-1		CDCA2_ENST00000380665.3_Splice_Site|CDCA2_ENST00000521098.2_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTAATTATAGAAGATGAAGA	0.303																																																	0													30.0	33.0	32.0					8																	25341481		2199	4299	6498	SO:0001630	splice_region_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1121-1G>C	8.37:g.25341481G>C			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Splice_Site	SNP	-	e9-1	ENST00000330560.3	37	c.1121-1	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	8.090	0.774328	0.16051	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	4.87	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7396	0.08524	0.0918:0.1637:0.5753:0.1692	.	.	.	.	.	-1	.	.	.	+	.	.	CDCA2	25397398	0.015000	0.18098	0.008000	0.14137	0.196000	0.23810	0.552000	0.23376	0.161000	0.19458	-0.127000	0.14921	.	CDCA2	-	-		0.303	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562	Intron	25341481	+1	no_errors	ENST00000330560	ensembl	human	known	70_37	splice_site	SNP	0.009	C
CDH8	1006	genome.wustl.edu	37	16	61689423	61689423	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:61689423G>A	ENST00000577390.1	-	11	2811	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	CDH8_ENST00000577730.1_Silent_p.L619L|CDH8_ENST00000299345.6_Silent_p.L619L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	619					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGCCCATACTGAGTCCAATTG	0.458																																																	0													122.0	101.0	108.0					16																	61689423		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1857C>T	16.37:g.61689423G>A			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L619	ENST00000577390.1	37	c.1857	CCDS10802.1	16																																																																																			CDH8	-	NULL		0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61689423	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	silent	SNP	1.000	A
CDHR2	54825	genome.wustl.edu	37	5	176011691	176011691	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:176011691C>A	ENST00000510636.1	+	19	2683	c.2409C>A	c.(2407-2409)gaC>gaA	p.D803E	CDHR2_ENST00000261944.5_Missense_Mutation_p.D803E|CDHR2_ENST00000506348.1_Missense_Mutation_p.D803E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	803	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGTGAACGACAATCCCCCCA	0.597																																																	0													109.0	108.0	109.0					5																	176011691		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2409C>A	5.37:g.176011691C>A	ENSP00000424565:p.Asp803Glu		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D803E	ENST00000510636.1	37	c.2409	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828828	0.32329	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.67171	-0.25;-0.25;-0.25	5.12	-5.92	0.02261	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.82056	0.4954	M	0.87682	2.9	0.33670	D	0.610774	D	0.89917	1.0	D	0.91635	0.999	D	0.85308	0.1077	9	0.87932	D	0	-28.7084	18.1722	0.89749	0.0:0.2539:0.0:0.7461	.	803	Q9BYE9	CDHR2_HUMAN	E	803	ENSP00000424565:D803E;ENSP00000261944:D803E;ENSP00000421078:D803E	ENSP00000261944:D803E	D	+	3	2	CDHR2	175944297	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.204000	0.00559	-1.342000	0.02222	0.549000	0.68633	GAC	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675		176011691	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.001	A
CDKL1	8814	genome.wustl.edu	37	14	50844422	50844422	+	5'UTR	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:50844422G>A	ENST00000356146.1	-	0	1379				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						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)					GGCTGGTTTTGAATGGGGTGT	0.512																																																	0													43.0	39.0	40.0					14																	50844422		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814			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	ENST00000356146.1:c.-1603C>T	14.37:g.50844422G>A			Q2M3A4|Q6QUA0|Q8WXQ5	RNA	SNP	-	NULL	ENST00000356146.1	37	NULL		14																																																																																			CDKL1	-	-		0.512	CDKL1-002	KNOWN	basic	processed_transcript	CDKL1	HGNC	protein_coding	OTTHUMT00000276873.2	G			50844422	-1	no_errors	ENST00000356146	ensembl	human	known	70_37	rna	SNP	0.002	A
CGRRF1	10668	genome.wustl.edu	37	14	54996927	54996927	+	Silent	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:54996927C>G	ENST00000216420.7	+	3	537	c.405C>G	c.(403-405)ctC>ctG	p.L135L	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	135					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GTGAATATCTCTATCAGGAAC	0.348																																																	0													55.0	54.0	55.0					14																	54996927		2202	4300	6502	SO:0001819	synonymous_variant	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.405C>G	14.37:g.54996927C>G			Q96BX2	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L135	ENST00000216420.7	37	c.405	CCDS9719.1	14																																																																																			CGRRF1	-	NULL		0.348	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	C	NM_006568		54996927	+1	no_errors	ENST00000216420	ensembl	human	known	70_37	silent	SNP	0.954	G
CHD2	1106	genome.wustl.edu	37	15	93528871	93528871	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:93528871C>T	ENST00000394196.4	+	26	4449	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L	CHD2_ENST00000557381.1_Silent_p.L1127L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1127					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGGACCTCGTGGAGGGAT	0.527																																																	0													144.0	125.0	132.0					15																	93528871		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3381C>T	15.37:g.93528871C>T			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1127	ENST00000394196.4	37	c.3381	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	C	NM_001271		93528871	+1	no_errors	ENST00000557381	ensembl	human	putative	70_37	silent	SNP	0.399	T
CHFR	55743	genome.wustl.edu	37	12	133454168	133454168	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:133454168G>C	ENST00000432561.2	-	3	279	c.206C>G	c.(205-207)tCa>tGa	p.S69*	CHFR_ENST00000450056.2_Nonsense_Mutation_p.S69*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S69*|CHFR_ENST00000266880.7_Nonsense_Mutation_p.S69*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S69*|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	69	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CACCTGACCTGATTTTTCATC	0.458																																																	0													143.0	131.0	135.0					12																	133454168		2203	4300	6503	SO:0001587	stop_gained	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.206C>G	12.37:g.133454168G>C	ENSP00000392395:p.Ser69*		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.S69*	ENST00000432561.2	37	c.206	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.460979	0.96240	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	.	.	.	5.46	5.46	0.80206	.	0.060944	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.222	19.4053	0.94646	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000266880:S69X	S	-	2	0	CHFR	131964241	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.855000	0.75445	2.579000	0.87056	0.558000	0.71614	TCA	CHFR	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.458	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	G			133454168	-1	no_errors	ENST00000266880	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CLDN18	51208	genome.wustl.edu	37	3	137717717	137717717	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:137717717G>A	ENST00000343735.4	+	1	141	c.7G>A	c.(7-9)Gtg>Atg	p.V3M		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	3					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CACCATGGCCGTGACTGCCTG	0.562																																																	0													102.0	84.0	90.0					3																	137717717		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.7G>A	3.37:g.137717717G>A	ENSP00000340939:p.Val3Met		A5PL21|Q96PH4	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.V3M	ENST00000343735.4	37	c.7	CCDS33862.1	3	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898006	0.52227	.	.	ENSG00000066405	ENST00000343735	D	0.85171	-1.95	4.48	4.48	0.54585	.	0.667267	0.14565	N	0.311802	D	0.83723	0.5316	.	.	.	0.80722	D	1	P	0.47545	0.897	B	0.40741	0.339	D	0.86358	0.1715	9	0.66056	D	0.02	.	17.7098	0.88318	0.0:0.0:1.0:0.0	.	3	P56856-2	.	M	3	ENSP00000340939:V3M	ENSP00000340939:V3M	V	+	1	0	CLDN18	139200407	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	6.271000	0.72569	2.474000	0.83562	0.563000	0.77884	GTG	CLDN18	-	NULL		0.562	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357198.2	G	NM_001002026		137717717	+1	no_errors	ENST00000343735	ensembl	human	known	70_37	missense	SNP	0.983	A
COL12A1	1303	genome.wustl.edu	37	6	75813485	75813485	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:75813485G>A	ENST00000322507.8	-	55	8616	c.8307C>T	c.(8305-8307)atC>atT	p.I2769I	COL12A1_ENST00000416123.2_Silent_p.I2693I|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Silent_p.I2769I|COL12A1_ENST00000345356.6_Silent_p.I1605I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2769	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGCCCCACTGATACCTCTTT	0.368																																																	0													100.0	94.0	96.0					6																	75813485		1828	4086	5914	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8307C>T	6.37:g.75813485G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.I2769	ENST00000322507.8	37	c.8307	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Collagen		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75813485	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	silent	SNP	0.993	A
CLVS2	134829	genome.wustl.edu	37	6	123319253	123319253	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:123319253C>G	ENST00000275162.5	+	2	1666	c.331C>G	c.(331-333)Ctg>Gtg	p.L111V	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	111	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CCTGGCCAATCTGGACCACTA	0.507																																																	0													61.0	59.0	60.0					6																	123319253		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.331C>G	6.37:g.123319253C>G	ENSP00000275162:p.Leu111Val		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L111V	ENST00000275162.5	37	c.331	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474947	0.43942	.	.	ENSG00000146352	ENST00000275162	T	0.74947	-0.89	5.48	3.71	0.42584	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.12182	0.205	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.43766	-0.9371	10	0.45353	T	0.12	-11.5328	11.9681	0.53047	0.0:0.8606:0.0:0.1394	.	111	Q5SYC1	CLVS2_HUMAN	V	111	ENSP00000275162:L111V	ENSP00000275162:L111V	L	+	1	2	CLVS2	123360952	0.996000	0.38824	0.931000	0.37212	0.954000	0.61252	3.230000	0.51286	0.881000	0.35993	-0.145000	0.13849	CTG	CLVS2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.507	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123319253	+1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	0.997	G
COMP	1311	genome.wustl.edu	37	19	18899092	18899092	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:18899092C>T	ENST00000222271.2	-	9	948	c.904G>A	c.(904-906)Gat>Aat	p.D302N	COMP_ENST00000425807.1_Missense_Mutation_p.D249N|COMP_ENST00000542601.2_Missense_Mutation_p.D269N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	302					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGGTCCACATCCTCCTGCCCT	0.652																																																	0													52.0	50.0	51.0					19																	18899092		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.904G>A	19.37:g.18899092C>T	ENSP00000222271:p.Asp302Asn		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D302N	ENST00000222271.2	37	c.904	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.324310	0.95708	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.99919	-8.0;-8.0;-8.0	3.68	3.68	0.42216	.	0.000000	0.85682	U	0.000000	D	0.99928	0.9967	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.978;1.0	D	0.95653	0.8708	10	0.62326	D	0.03	-27.8485	14.0947	0.65013	0.0:1.0:0.0:0.0	.	249;302	B4DKJ3;P49747	.;COMP_HUMAN	N	269;302;249;289	ENSP00000439156:D269N;ENSP00000222271:D302N;ENSP00000403792:D249N	ENSP00000222271:D302N	D	-	1	0	COMP	18760092	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.498000	0.81546	1.909000	0.55274	0.484000	0.47621	GAT	COMP	-	pfam_Thrombospondin_3-like_rpt		0.652	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	C	NM_000095		18899092	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	1.000	T
CPPED1	55313	genome.wustl.edu	37	16	12758794	12758794	+	Silent	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:12758794C>G	ENST00000381774.4	-	4	1134	c.894G>C	c.(892-894)ctG>ctC	p.L298L	CPPED1_ENST00000261660.4_3'UTR|CPPED1_ENST00000433677.2_Silent_p.L156L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	298						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.L298L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTTTCTCACTCAGCTCATCTA	0.478																																																	1	Substitution - coding silent(1)	urinary_tract(1)											153.0	154.0	154.0					16																	12758794		1886	4120	6006	SO:0001819	synonymous_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.894G>C	16.37:g.12758794C>G			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	pfam_Metallo_PEstase_dom	p.L298	ENST00000381774.4	37	c.894	CCDS42120.1	16																																																																																			CPPED1	-	NULL		0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPPED1	HGNC	protein_coding	OTTHUMT00000395795.2	C	NM_018340		12758794	-1	no_errors	ENST00000381774	ensembl	human	known	70_37	silent	SNP	0.997	G
CR1	1378	genome.wustl.edu	37	1	207697066	207697066	+	Missense_Mutation	SNP	G	G	A	rs533647702		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:207697066G>A	ENST00000367049.4	+	5	598	c.598G>A	c.(598-600)Gga>Aga	p.G200R	CR1_ENST00000367052.1_Missense_Mutation_p.G200R|CR1_ENST00000367053.1_Missense_Mutation_p.G200R|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.G200R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	200	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCTGGAAGCGGAGGGAGAAA	0.542																																																	0													24.0	20.0	21.0					1																	207697066		1775	4031	5806	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.598G>A	1.37:g.207697066G>A	ENSP00000356016:p.Gly200Arg		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G200R	ENST00000367049.4	37	c.598	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	1.989	-0.432141	0.04669	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.16	-1.96	0.07525	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.05318	0.0141	N	0.01015	-1.05	0.09310	N	1	B;B;B;B;B	0.13145	0.0;0.007;0.0;0.001;0.001	B;B;B;B;B	0.16722	0.0;0.016;0.002;0.001;0.001	T	0.40308	-0.9570	9	0.22109	T	0.4	.	3.9452	0.09346	0.4049:0.3747:0.2204:0.0	.	650;200;175;200;200	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	R	200	ENSP00000356019:G200R;ENSP00000356020:G200R;ENSP00000383744:G200R;ENSP00000436139:G200R;ENSP00000356016:G200R	ENSP00000356016:G200R	G	+	1	0	CR1	205763689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.763000	0.26517	-0.039000	0.13602	-0.687000	0.03738	GGA	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	G	NM_000573		207697066	+1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.000	A
CRHR2	1395	genome.wustl.edu	37	7	30721614	30721614	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:30721614G>A	ENST00000471646.1	-	2	563	c.146C>T	c.(145-147)aCg>aTg	p.T49M	CRHR2_ENST00000348438.4_Missense_Mutation_p.T76M|CRHR2_ENST00000506074.2_Missense_Mutation_p.T49M|CRHR2_ENST00000341843.4_Missense_Mutation_p.T35M	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	49					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCCAGCACGTTCCGATCTG	0.692																																																	0													31.0	28.0	29.0					7																	30721614		2200	4295	6495	SO:0001583	missense	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.146C>T	7.37:g.30721614G>A	ENSP00000418722:p.Thr49Met		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.T76M	ENST00000471646.1	37	c.227	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465095	0.84425	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.27	3.39	0.38822	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.80508	2.5	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.999	T	0.77313	-0.2634	10	0.48119	T	0.1	.	10.3538	0.43952	0.0974:0.0:0.9026:0.0	.	49;49;76;35;49	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	M	49;76;35;49	ENSP00000418722:T49M;ENSP00000340943:T76M;ENSP00000344304:T35M;ENSP00000426498:T49M	ENSP00000344304:T35M	T	-	2	0	CRHR2	30688139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.399000	0.90197	1.151000	0.42436	0.655000	0.94253	ACG	CRHR2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.692	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	G			30721614	-1	no_errors	ENST00000348438	ensembl	human	known	70_37	missense	SNP	1.000	A
CREB3L2	64764	genome.wustl.edu	37	7	137567265	137567265	+	Silent	SNP	G	G	A	rs370472182		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:137567265G>A	ENST00000330387.6	-	11	1731	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	460					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGACACCCTGAGCAGGGAGG	0.592			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													52.0	52.0	52.0					7																	137567265		2203	4300	6503	SO:0001819	synonymous_variant	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1380C>T	7.37:g.137567265G>A			Q6P454|Q6ZMR6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L460	ENST00000330387.6	37	c.1380	CCDS34760.1	7																																																																																			CREB3L2	-	NULL		0.592	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	G	NM_194071		137567265	-1	no_errors	ENST00000330387	ensembl	human	known	70_37	silent	SNP	0.229	A
CRYGS	1427	genome.wustl.edu	37	3	186262102	186262102	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:186262102C>G	ENST00000392499.2	-	2	353	c.14G>C	c.(13-15)gGa>gCa	p.G5A	CRYGS_ENST00000307944.5_Missense_Mutation_p.G5A	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	5	N-terminal arm.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TACCTTGGTTCCAGTTTTAGA	0.403																																																	0													149.0	136.0	141.0					3																	186262102		2203	4300	6503	SO:0001583	missense	1427				CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.14G>C	3.37:g.186262102C>G	ENSP00000376287:p.Gly5Ala		B2RAF8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G5A	ENST00000392499.2	37	c.14	CCDS3275.1	3	.	.	.	.	.	.	.	.	.	.	C	5.452	0.268558	0.10349	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.73363	-0.74;-0.74	5.85	1.34	0.21922	Gamma-crystallin-related (1);	0.279389	0.27236	U	0.020287	T	0.51126	0.1656	N	0.14661	0.345	0.31168	N	0.703504	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.10111	T	0.7	.	10.2462	0.43343	0.1412:0.4886:0.3701:0.0	.	5	P22914	CRBS_HUMAN	A	5	ENSP00000376287:G5A;ENSP00000312099:G5A	ENSP00000312099:G5A	G	-	2	0	CRYGS	187744796	0.848000	0.29623	0.994000	0.49952	0.956000	0.61745	0.428000	0.21395	0.327000	0.23409	0.655000	0.94253	GGA	CRYGS	-	superfamily_G_crystallin-rel		0.403	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGS	HGNC	protein_coding	OTTHUMT00000344784.1	C	NM_017541		186262102	-1	no_errors	ENST00000307944	ensembl	human	known	70_37	missense	SNP	0.985	G
CSRP2	1466	genome.wustl.edu	37	12	77253379	77253379	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:77253379C>G	ENST00000311083.5	-	5	576	c.453G>C	c.(451-453)aaG>aaC	p.K151N	CSRP2_ENST00000547435.1_Missense_Mutation_p.K151N|CSRP2_ENST00000552330.1_Missense_Mutation_p.K201N|CSRP2_ENST00000546966.1_Missense_Mutation_p.K151N	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	151	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ATTCAAGACTCTTCCCACACT	0.398																																																	0													86.0	76.0	79.0					12																	77253379		2203	4300	6503	SO:0001583	missense	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.453G>C	12.37:g.77253379C>G	ENSP00000310901:p.Lys151Asn		Q93030	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K151N	ENST00000311083.5	37	c.453	CCDS9015.1	12	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863467	0.71949	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.64	3.83	0.44106	Zinc finger, LIM-type (5);	0.043317	0.85682	D	0.000000	D	0.95893	0.8663	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.94404	0.7625	10	0.54805	T	0.06	-2.8988	6.8465	0.23990	0.0:0.6217:0.0:0.3782	.	151	Q16527	CSRP2_HUMAN	N	151;201;151;151	ENSP00000310901:K151N;ENSP00000449824:K201N;ENSP00000450056:K151N;ENSP00000450143:K151N	ENSP00000310901:K151N	K	-	3	2	CSRP2	75777510	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.747000	0.26290	0.753000	0.32945	0.655000	0.94253	AAG	CSRP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.398	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1	C	NM_001321		77253379	-1	no_errors	ENST00000311083	ensembl	human	known	70_37	missense	SNP	1.000	G
CSRP2BP	57325	genome.wustl.edu	37	20	18143136	18143136	+	Silent	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:18143136C>G	ENST00000435364.3	+	6	1559	c.1218C>G	c.(1216-1218)ggC>ggG	p.G406G	CSRP2BP_ENST00000489634.2_Silent_p.G278G|CSRP2BP_ENST00000377681.3_Silent_p.G405G	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	406					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGTCAGAGGCCCTGAACAGA	0.512																																																	0													64.0	67.0	66.0					20																	18143136		2203	4300	6503	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1218C>G	20.37:g.18143136C>G			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.G406	ENST00000435364.3	37	c.1218	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL		0.512	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	C	NM_020536		18143136	+1	no_errors	ENST00000278816	ensembl	human	known	70_37	silent	SNP	0.000	G
CTSS	1520	genome.wustl.edu	37	1	150737223	150737223	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:150737223C>A	ENST00000368985.3	-	2	277	c.17G>T	c.(16-18)tGt>tTt	p.C6F	CTSS_ENST00000480760.1_5'Flank|CTSS_ENST00000448301.2_Missense_Mutation_p.C6F	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	6					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGAGCACACAAACCAGCCG	0.428																																																	0													165.0	146.0	152.0					1																	150737223		2203	4300	6503	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.17G>T	1.37:g.150737223C>A	ENSP00000357981:p.Cys6Phe		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.C6F	ENST00000368985.3	37	c.17	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347563	0.24426	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.81821	-1.54;-1.08	4.87	1.96	0.26148	.	3.044380	0.00575	N	0.000319	T	0.32406	0.0828	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30179	-0.9987	10	0.30854	T	0.27	.	4.1752	0.10348	0.3201:0.5146:0.0:0.1653	.	6;6	B4DWC9;P25774	.;CATS_HUMAN	F	6	ENSP00000408414:C6F;ENSP00000357981:C6F	ENSP00000357981:C6F	C	-	2	0	CTSS	149003847	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.702000	0.25631	0.339000	0.23719	0.561000	0.74099	TGT	CTSS	-	NULL		0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	C	NM_004079		150737223	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	0.000	A
CXCR3	2833	genome.wustl.edu	37	X	70837348	70837348	+	Intron	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:70837348G>C	ENST00000373693.3	-	2	80				CXCR3_ENST00000373691.4_Missense_Mutation_p.L39V	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCTGTGTAAAGGCCTGGCAGG	0.557																																																	0													29.0	31.0	31.0					X																	70837348		2119	4187	6306	SO:0001627	intron_variant	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.13-39C>G	X.37:g.70837348G>C			B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.L39V	ENST00000373693.3	37	c.115	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841198	0.16891	.	.	ENSG00000186810	ENST00000373691	T	0.70631	-0.5	4.48	0.635	0.17723	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42361	-0.9456	8	0.45353	T	0.12	.	4.1069	0.10040	0.408:0.1699:0.4221:0.0	.	39	P49682-2	.	V	39	ENSP00000362795:L39V	ENSP00000362795:L39V	L	-	1	0	CXCR3	70754073	0.280000	0.24249	0.000000	0.03702	0.029000	0.11900	1.170000	0.31883	-0.118000	0.11851	-0.192000	0.12808	CTT	CXCR3	-	NULL		0.557	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	G			70837348	-1	no_errors	ENST00000373691	ensembl	human	known	70_37	missense	SNP	0.000	C
CYP2S1	29785	genome.wustl.edu	37	19	41704766	41704766	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:41704766C>T	ENST00000310054.4	+	5	1023	c.807C>T	c.(805-807)gtC>gtT	p.V269V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	269					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTGACCTTGTCGATGCCTTCC	0.642																																																	0													61.0	58.0	59.0					19																	41704766		2203	4300	6503	SO:0001819	synonymous_variant	29785			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.807C>T	19.37:g.41704766C>T			Q9BZ66	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.V269	ENST00000310054.4	37	c.807	CCDS12573.1	19																																																																																			CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.642	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	C			41704766	+1	no_errors	ENST00000310054	ensembl	human	known	70_37	silent	SNP	0.070	T
CYP3A7	1551	genome.wustl.edu	37	7	99313407	99313407	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:99313407G>A	ENST00000336374.2	-	7	646	c.644C>T	c.(643-645)cCa>cTa	p.P215L	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	215					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGGATCTAATGGATTAAATCT	0.373																																																	0													177.0	173.0	175.0					7																	99313407		2203	4300	6503	SO:0001583	missense	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.644C>T	7.37:g.99313407G>A	ENSP00000337450:p.Pro215Leu		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P215L	ENST00000336374.2	37	c.644	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674312	0.14841	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.62364	0.03	4.09	2.8	0.32819	.	0.388426	0.32002	N	0.006724	T	0.31040	0.0784	N	0.03881	-0.34	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	10	0.09590	T	0.72	.	7.7661	0.28980	0.8917:0.0:0.1083:0.0	.	215	P24462	CP3A7_HUMAN	L	215	ENSP00000337450:P215L	ENSP00000292414:P215L	P	-	2	0	CYP3A7	99151343	0.141000	0.22595	0.001000	0.08648	0.000000	0.00434	4.095000	0.57728	0.515000	0.28320	-0.693000	0.03709	CCA	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.373	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	G			99313407	-1	no_errors	ENST00000336374	ensembl	human	known	70_37	missense	SNP	0.004	A
DCHS1	8642	genome.wustl.edu	37	11	6661921	6661921	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6661921G>A	ENST00000299441.3	-	2	1335	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGTGTGTGCGTCGATGGAGA	0.607																																																	0													105.0	94.0	98.0					11																	6661921		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.924C>T	11.37:g.6661921G>A			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308	ENST00000299441.3	37	c.924	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6661921	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.044	A
DCLRE1A	9937	genome.wustl.edu	37	10	115610108	115610108	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:115610108G>C	ENST00000361384.2	-	2	1673	c.756C>G	c.(754-756)atC>atG	p.I252M	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I252M|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	252					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGGATGTTTGGATATGAGTAG	0.363								Other identified genes with known or suspected DNA repair function																																									0													79.0	81.0	80.0					10																	115610108		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.756C>G	10.37:g.115610108G>C	ENSP00000355185:p.Ile252Met		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.I252M	ENST00000361384.2	37	c.756	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437946	0.12104	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.74	1.18	0.20946	.	2.104430	0.01450	N	0.015447	T	0.57917	0.2086	L	0.51422	1.61	0.09310	N	1	P	0.41265	0.744	B	0.39027	0.288	T	0.44483	-0.9325	10	0.33940	T	0.23	4.5456	7.8909	0.29677	0.5744:0.0:0.4256:0.0	.	252	Q6PJP8	DCR1A_HUMAN	M	252	ENSP00000355185:I252M;ENSP00000358311:I252M	ENSP00000355185:I252M	I	-	3	3	DCLRE1A	115600098	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	0.441000	0.21611	0.152000	0.19188	0.644000	0.83932	ATC	DCLRE1A	-	NULL		0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115610108	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	0.000	C
DLC1	10395	genome.wustl.edu	37	8	13356877	13356877	+	Missense_Mutation	SNP	C	C	T	rs140615088		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:13356877C>T	ENST00000276297.4	-	2	1113	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	DLC1_ENST00000316609.5_Missense_Mutation_p.R235Q|DLC1_ENST00000511869.1_Missense_Mutation_p.R235Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	235					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGTTTCCTTCGTTGCTGAGC	0.408																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	153.0	153.0	153.0		704,704	4.0	1.0	8	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DLC1	NM_024767.3,NM_182643.2	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	235/464,235/1529	13356877	2,13004	2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.704G>A	8.37:g.13356877C>T	ENSP00000276297:p.Arg235Gln		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.R235Q	ENST00000276297.4	37	c.704	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397063	0.62177	0.0	2.33E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13778	3.51;2.56;2.58	4.84	3.95	0.45737	.	0.000000	0.33199	N	0.005171	T	0.23965	0.0580	L	0.46157	1.445	0.26044	N	0.981568	D;D;P	0.76494	0.999;0.999;0.813	D;P;B	0.63192	0.912;0.836;0.181	T	0.02728	-1.1118	10	0.37606	T	0.19	.	9.6476	0.39877	0.1402:0.785:0.0:0.0749	.	235;235;235	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Q	235	ENSP00000276297:R235Q;ENSP00000321034:R235Q;ENSP00000425878:R235Q	ENSP00000276297:R235Q	R	-	2	0	DLC1	13401248	0.998000	0.40836	0.999000	0.59377	0.935000	0.57460	1.907000	0.39897	1.356000	0.45884	0.655000	0.94253	CGA	DLC1	-	NULL		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		13356877	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	missense	SNP	0.998	T
DPP3	10072	genome.wustl.edu	37	11	66264946	66264946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:66264946C>T	ENST00000360510.2	+	16	1941	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q626*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q645*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q596*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q626*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q646*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	626					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCGGAGACTTCAGGTAAGCAA	0.607																																																	0													29.0	28.0	28.0					11																	66264946		2200	4292	6492	SO:0001587	stop_gained	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1876C>T	11.37:g.66264946C>T	ENSP00000353701:p.Gln626*		B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	pirsf_Dipeptidyl-peptase3	p.Q626*	ENST00000360510.2	37	c.1876	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.621848	0.97714	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	.	.	.	X	646;645;626;626;626;596;524;206	.	ENSP00000309957:Q206X	Q	+	1	0	DPP3	66021522	1.000000	0.71417	0.993000	0.49108	0.630000	0.37929	6.882000	0.75589	2.824000	0.97209	0.655000	0.94253	CAG	DPP3	-	pirsf_Dipeptidyl-peptase3		0.607	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	C			66264946	+1	no_errors	ENST00000360510	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DPY19L1	23333	genome.wustl.edu	37	7	35009108	35009108	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:35009108G>A	ENST00000310974.4	-	9	876	c.732C>T	c.(730-732)ctC>ctT	p.L244L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	244						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L244L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGAAATGCAGAGTGCAATCA	0.353																																																	1	Substitution - coding silent(1)	lung(1)											89.0	82.0	84.0					7																	35009108		1840	4099	5939	SO:0001819	synonymous_variant	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.732C>T	7.37:g.35009108G>A			O94954|Q4G151	Silent	SNP	pfam_Dpy-19	p.L244	ENST00000310974.4	37	c.732	CCDS43567.1	7																																																																																			DPY19L1	-	pfam_Dpy-19		0.353	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	G			35009108	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	silent	SNP	1.000	A
DPYD	1806	genome.wustl.edu	37	1	97658667	97658667	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:97658667C>T	ENST00000370192.3	-	20	2680	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	860					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTTTCCCTTTCTGGTGACTCA	0.448																																																	0													194.0	166.0	176.0					1																	97658667		2203	4300	6503	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2580G>A	1.37:g.97658667C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.Q860	ENST00000370192.3	37	c.2580	CCDS30777.1	1																																																																																			DPYD	-	NULL		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97658667	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	silent	SNP	1.000	T
DSCAML1	57453	genome.wustl.edu	37	11	117392107	117392107	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:117392107C>T	ENST00000321322.6	-	6	1132	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	DSCAML1_ENST00000527706.1_Silent_p.V107V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	317	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTCAGGGTCACATGAAGGG	0.592																																																	0													28.0	28.0	28.0					11																	117392107		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1131G>A	11.37:g.117392107C>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V377	ENST00000321322.6	37	c.1131	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Ig_I-set,pfscan_Ig-like		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117392107	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	silent	SNP	1.000	T
MICU2	221154	genome.wustl.edu	37	13	22178093	22178093	+	Silent	SNP	A	A	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:22178093A>G	ENST00000382374.4	-	1	260	c.195T>C	c.(193-195)ttT>ttC	p.F65F		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	65					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CGGAGACTGTAAAACTGCCAT	0.682																																																	0													25.0	26.0	26.0					13																	22178093		2202	4300	6502	SO:0001819	synonymous_variant	221154			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.195T>C	13.37:g.22178093A>G			Q8N0T6|Q8NAX8	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F65	ENST00000382374.4	37	c.195	CCDS9297.1	13																																																																																			EFHA1	-	NULL		0.682	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA1	HGNC	protein_coding	OTTHUMT00000144355.1	A	NM_152726		22178093	-1	no_errors	ENST00000382374	ensembl	human	known	70_37	silent	SNP	0.000	G
RP11-782C8.2	0	genome.wustl.edu	37	1	143209472	143209472	+	lincRNA	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:143209472T>C	ENST00000412204.2	-	0	1598				RP11-782C8.1_ENST00000438000.1_lincRNA																							AGAGACTTTCTTTTAAATGAT	0.294																																																	0																																												0																															1.37:g.143209472T>C				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.294	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	T			143209472	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.587	C
MGAT4EP	641515	genome.wustl.edu	37	1	202795002	202795002	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:202795002C>G	ENST00000330493.5	+	3	1459	c.368C>G	c.(367-369)gCc>gGc	p.A123G	RP11-480I12.4_ENST00000549576.1_Missense_Mutation_p.A123G																							AAAAAGAATGCCGATGGTCCC	0.507																																																	0																																										SO:0001583	missense	0																														ENST00000330493.5:c.368C>G	1.37:g.202795002C>G	ENSP00000446921:p.Ala123Gly			Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A123G	ENST00000330493.5	37	c.368		1	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892153	0.17613	.	.	ENSG00000184774	ENST00000330493;ENST00000549576	T;T	0.44482	0.92;0.92	4.69	-0.881	0.10607	.	2.279470	0.01423	N	0.014435	T	0.32675	0.0837	.	.	.	.	.	.	.	.	.	.	.	.	T	0.26710	-1.0095	6	0.25106	T	0.35	.	9.3816	0.38318	0.0:0.474:0.0:0.526	.	.	.	.	G	123	ENSP00000446921:A123G;ENSP00000450079:A123G	ENSP00000446921:A123G	A	+	2	0	RP11-480I12.4	201061625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.358000	0.20216	-0.044000	0.13491	0.655000	0.94253	GCC	RP11-480I12.4	-	NULL		0.507	RP11-480I12.4-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000184774	Clone_based_vega_gene	protein_coding	OTTHUMT00000099140.2	C			202795002	+1	no_errors	ENST00000330493	ensembl	human	known	70_37	missense	SNP	0.000	G
HSD17B12	51144	genome.wustl.edu	37	11	43852428	43852428	+	Intron	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:43852428C>T	ENST00000278353.4	+	7	620				RP11-613D13.5_ENST00000499066.2_RNA|RP11-613D13.5_ENST00000530450.1_RNA|RP11-613D13.5_ENST00000524643.1_RNA|HSD17B12_ENST00000529261.1_Intron	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						TGAATGGTTTCATGATTCCCT	0.413																																					Ovarian(58;548 1143 13948 16572 34258)												0																																										SO:0001627	intron_variant	0			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.502-98C>T	11.37:g.43852428C>T			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	RNA	SNP	-	NULL	ENST00000278353.4	37	NULL	CCDS7905.1	11																																																																																			RP11-613D13.5	-	-		0.413	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000246250	Clone_based_vega_gene	protein_coding	OTTHUMT00000389594.1	C			43852428	-1	no_errors	ENST00000499066	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-643G16.4	0	genome.wustl.edu	37	14	68083197	68083198	+	RNA	INS	-	-	A	rs536071118|rs35400715|rs79536299|rs530475377|rs76557320|rs34690600	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:68083197_68083198insA	ENST00000559968.1	+	0	1552_1553				Y_RNA_ENST00000364659.1_RNA																							TCTGTAATTGCAAAAAAAAAAA	0.277																																																	0																																												0																															14.37:g.68083208_68083208dupA				RNA	INS	-	NULL	ENST00000559968.1	37	NULL		14																																																																																			RP11-643G16.4	-	-		0.277	RP11-643G16.4-002	KNOWN	basic	processed_transcript	ENSG00000259648	Clone_based_vega_gene	pseudogene	OTTHUMT00000417022.1	-			68083198	+1	no_errors	ENST00000559968	ensembl	human	known	70_37	rna	INS	1.000:1.000	A
ENTPD4	9583	genome.wustl.edu	37	8	23292045	23292046	+	Intron	DEL	CA	CA	-	rs139348326		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:23292045_23292046delCA	ENST00000358689.4	-	12	1696				ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Intron|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4						UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCAAGATGGcacacacacaca	0.545																																																	0																																										SO:0001627	intron_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1461-54TG>-	8.37:g.23292055_23292056delCA			D3DSS3|O15092	RNA	DEL	-	NULL	ENST00000358689.4	37	NULL	CCDS6041.1	8																																																																																			ENTPD4	-	-		0.545	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	CA	NM_004901		23292046	-1	no_errors	ENST00000522913	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
EPB41L1	2036	genome.wustl.edu	37	20	34778276	34778276	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:34778276C>T	ENST00000338074.2	+	10	1265	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	EPB41L1_ENST00000373950.2_Silent_p.I271I|EPB41L1_ENST00000373946.3_Silent_p.I337I|EPB41L1_ENST00000202028.5_Silent_p.I306I|EPB41L1_ENST00000373941.1_Silent_p.I368I|EPB41L1_ENST00000441639.1_Silent_p.I306I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	368	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGTCTGCATCGAGCATCATA	0.527																																																	0													79.0	67.0	71.0					20																	34778276		2203	4300	6503	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1104C>T	20.37:g.34778276C>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.I368	ENST00000338074.2	37	c.1104	CCDS13271.1	20																																																																																			EPB41L1	-	pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain		0.527	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	C	NM_012156		34778276	+1	no_errors	ENST00000338074	ensembl	human	known	70_37	silent	SNP	0.133	T
EPRS	2058	genome.wustl.edu	37	1	220152022	220152022	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:220152022C>G	ENST00000366923.3	-	28	4218	c.3949G>C	c.(3949-3951)Gaa>Caa	p.E1317Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1317	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGTCTTCTTCAGAAAGTGCA	0.383																																																	0													123.0	118.0	120.0					1																	220152022		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3949G>C	1.37:g.220152022C>G	ENSP00000355890:p.Glu1317Gln		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.E1317Q	ENST00000366923.3	37	c.3949	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.587746	0.96590	.	.	ENSG00000136628	ENST00000366923	T	0.07688	3.17	5.81	5.81	0.92471	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.61036	1.89	0.80722	D	1	B	0.34255	0.445	B	0.36092	0.217	T	0.00804	-1.1559	10	0.56958	D	0.05	-26.6337	20.0628	0.97684	0.0:1.0:0.0:0.0	.	1317	P07814	SYEP_HUMAN	Q	1317	ENSP00000355890:E1317Q	ENSP00000355890:E1317Q	E	-	1	0	EPRS	218218645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.745000	0.94114	0.655000	0.94253	GAA	EPRS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type		0.383	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	C	NM_004446		220152022	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	G
ABHD17B	51104	genome.wustl.edu	37	9	74485111	74485111	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:74485111G>A	ENST00000333421.6	-	3	646	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.L179F	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	179						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CGAGCAGCAAGATCCACAGAC	0.423																																																	0													175.0	162.0	166.0					9																	74485111		2203	4300	6503	SO:0001583	missense	51104			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.535C>T	9.37:g.74485111G>A	ENSP00000330222:p.Leu179Phe		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.L179F	ENST00000333421.6	37	c.535	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189109	0.57909	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.50813	0.73;0.73	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.82092	-0.0628	10	0.87932	D	0	-7.3915	14.2777	0.66191	0.0718:0.0:0.9282:0.0	.	179;179	Q5VST6;Q5VST6-2	F108B_HUMAN;.	F	179	ENSP00000366240:L179F;ENSP00000330222:L179F	ENSP00000330222:L179F	L	-	1	0	FAM108B1	73674931	1.000000	0.71417	0.985000	0.45067	0.139000	0.21198	6.554000	0.73923	1.397000	0.46682	-0.136000	0.14681	CTT	FAM108B1	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro		0.423	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM108B1	HGNC	protein_coding	OTTHUMT00000052625.1	G	NM_016014		74485111	-1	no_errors	ENST00000377041	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM129A	116496	genome.wustl.edu	37	1	184765013	184765013	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:184765013C>T	ENST00000367511.3	-	14	2078	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	629					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTAGGGACCTCAGGCTGCTTC	0.552																																																	0													70.0	72.0	71.0					1																	184765013		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1885G>A	1.37:g.184765013C>T	ENSP00000356481:p.Glu629Lys		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.E629K	ENST00000367511.3	37	c.1885	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805301	0.50315	.	.	ENSG00000135842	ENST00000367511	T	0.11821	2.74	5.56	4.65	0.58169	.	0.972058	0.08439	N	0.945707	T	0.08179	0.0204	N	0.24115	0.695	0.09310	N	1	P	0.38078	0.617	B	0.27170	0.077	T	0.06023	-1.0850	10	0.07030	T	0.85	-4.042	12.5757	0.56362	0.0:0.9231:0.0:0.0769	.	629	Q9BZQ8	NIBAN_HUMAN	K	629	ENSP00000356481:E629K	ENSP00000356481:E629K	E	-	1	0	FAM129A	183031636	0.046000	0.20272	0.006000	0.13384	0.086000	0.17979	2.792000	0.47837	1.351000	0.45789	0.561000	0.74099	GAG	FAM129A	-	NULL		0.552	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	C			184765013	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	missense	SNP	0.020	T
FAM134A	79137	genome.wustl.edu	37	2	220046965	220046965	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:220046965G>T	ENST00000430297.2	+	9	1382	c.1246G>T	c.(1246-1248)Ggg>Tgg	p.G416W		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	416						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATGGGGCAGGGTCCCCCCC	0.607																																																	0													115.0	123.0	120.0					2																	220046965		2203	4300	6503	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1246G>T	2.37:g.220046965G>T	ENSP00000395249:p.Gly416Trp		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.G416W	ENST00000430297.2	37	c.1246	CCDS2434.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.02|18.02	3.529293|3.529293	0.64860|0.64860	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000430297;ENST00000443518|ENST00000420189	T|.	0.39997|.	1.05|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.058685|.	0.64402|.	D|.	0.000002|.	T|T	0.76891|0.76891	0.4051|0.4051	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.75909|0.75909	-0.3151|-0.3151	9|5	.|.	.|.	.|.	-19.3118|-19.3118	19.0611|19.0611	0.93093|0.93093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	209;416|.	E7EUL4;Q8NC44|.	.;F134A_HUMAN|.	W|M	416;209|110	ENSP00000395249:G416W|.	.|.	G|R	+|+	1|2	0|0	FAM134A|FAM134A	219755209|219755209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	8.454000|8.454000	0.90352|0.90352	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGG|AGG	FAM134A	-	NULL		0.607	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	G	NM_024293		220046965	+1	no_errors	ENST00000430297	ensembl	human	known	70_37	missense	SNP	1.000	T
SMIM11	54065	genome.wustl.edu	37	21	35774492	35774492	+	3'UTR	DEL	T	T	-	rs534668511	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr21:35774492delT	ENST00000399299.1	+	0	450				SMIM11_ENST00000481710.1_3'UTR|AP000322.54_ENST00000410005.1_5'Flank			P58511	SIM11_HUMAN	small integral membrane protein 11							integral component of membrane (GO:0016021)											TGGAGGAGGATTTTTTTTTTT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	54065			BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 51"", ""family with sequence similarity 165, member B"""	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399299.1:c.*98T>-	21.37:g.35774492delT				RNA	DEL	-	NULL	ENST00000399299.1	37	NULL		21																																																																																			FAM165B	-	-		0.373	SMIM11-002	PUTATIVE	basic|exp_conf	protein_coding	FAM165B	HGNC	protein_coding	OTTHUMT00000194076.1	T	NM_058182		35774492	+1	no_errors	ENST00000481710	ensembl	human	known	70_37	rna	DEL	0.002	-
FAM222B	55731	genome.wustl.edu	37	17	27086173	27086173	+	Missense_Mutation	SNP	G	G	C	rs543204022		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:27086173G>C	ENST00000341217.5	-	3	1019	c.804C>G	c.(802-804)atC>atG	p.I268M	FAM222B_ENST00000452648.3_Missense_Mutation_p.I268M|FAM222B_ENST00000581407.1_Missense_Mutation_p.I268M|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	268																	TCTGGTGCACGATGCTACTCA	0.592																																																	0													37.0	39.0	38.0					17																	27086173		2175	4275	6450	SO:0001583	missense	55731			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.804C>G	17.37:g.27086173G>C	ENSP00000343115:p.Ile268Met		Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	NULL	p.I268M	ENST00000341217.5	37	c.804	CCDS45637.1	17	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233896	0.39498	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.46819	0.86;0.86	4.36	2.32	0.28847	.	0.121131	0.53938	D	0.000050	T	0.57666	0.2069	L	0.61218	1.895	0.46725	D	0.999178	D	0.67145	0.996	D	0.65773	0.938	T	0.55921	-0.8064	10	0.66056	D	0.02	-1.2757	6.216	0.20656	0.4024:0.0:0.5976:0.0	.	268	Q8WU58	CQ063_HUMAN	M	268	ENSP00000343115:I268M;ENSP00000413645:I268M	ENSP00000343115:I268M	I	-	3	3	C17orf63	24110300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.595000	0.24029	0.456000	0.26937	0.655000	0.94253	ATC	FAM222B	-	NULL		0.592	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1	G	NM_018182		27086173	-1	no_errors	ENST00000341217	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM43B	163933	genome.wustl.edu	37	1	20879728	20879728	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:20879728G>C	ENST00000332947.4	+	1	797	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	88										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGCCAAGGGCGACGGCTGCAC	0.677																																																	0													33.0	31.0	31.0					1																	20879728		2198	4297	6495	SO:0001583	missense	163933			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.262G>C	1.37:g.20879728G>C	ENSP00000331397:p.Asp88His		A5PKT8|A5PL01	Missense_Mutation	SNP	smart_PTyr_interaction_dom	p.D88H	ENST00000332947.4	37	c.262	CCDS209.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208812	0.79240	.	.	ENSG00000183114	ENST00000332947	.	.	.	3.89	3.89	0.44902	Pleckstrin homology-type (1);	0.408112	0.23476	U	0.047779	T	0.61540	0.2355	L	0.38175	1.15	0.48288	D	0.999625	D	0.61697	0.99	P	0.59221	0.854	T	0.62234	-0.6897	9	0.44086	T	0.13	-18.7567	13.3241	0.60449	0.0:0.0:1.0:0.0	.	88	Q6ZT52	FA43B_HUMAN	H	88	.	ENSP00000331397:D88H	D	+	1	0	FAM43B	20752315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.844000	0.75390	1.727000	0.51537	0.455000	0.32223	GAC	FAM43B	-	smart_PTyr_interaction_dom		0.677	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43B	HGNC	protein_coding	OTTHUMT00000127759.1	G	NM_207334		20879728	+1	no_errors	ENST00000332947	ensembl	human	known	70_37	missense	SNP	1.000	C
FANCB	2187	genome.wustl.edu	37	X	14862067	14862067	+	Silent	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:14862067G>C	ENST00000324138.3	-	9	2355	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L	FANCB_ENST00000398334.1_Silent_p.L734L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	734					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAATTCTGATGAGATTATGAA	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													57.0	61.0	60.0					X																	14862067		2197	4296	6493	SO:0001819	synonymous_variant	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2202C>G	X.37:g.14862067G>C			B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.L734	ENST00000324138.3	37	c.2202	CCDS14161.1	X																																																																																			FANCB	-	NULL		0.308	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	G	NM_152633		14862067	-1	no_errors	ENST00000324138	ensembl	human	known	70_37	silent	SNP	0.489	C
ZNF395	55893	genome.wustl.edu	37	8	28218599	28218599	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:28218599G>A	ENST00000344423.5	-	2	174	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	ZNF395_ENST00000523202.1_Silent_p.L15L|ZNF395_ENST00000523095.1_Silent_p.L15L	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CGGGCTCCCAGGAGGGACCGC	0.687																																																	0													26.0	29.0	28.0					8																	28218599		2190	4282	6472	SO:0001819	synonymous_variant	157574			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.43C>T	8.37:g.28218599G>A			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P315L	ENST00000344423.5	37	c.944	CCDS6067.1	8																																																																																			FBXO16	-	NULL		0.687	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219976.1	G			28218599	-1	no_errors	ENST00000521548	ensembl	human	known	70_37	missense	SNP	1.000	A
FHAD1	114827	genome.wustl.edu	37	1	15684702	15684702	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:15684702G>A	ENST00000375998.4	+	19	2593	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K	FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000358897.4_Missense_Mutation_p.E865K|FHAD1_ENST00000314740.8_Missense_Mutation_p.E118K|FHAD1_ENST00000417793.1_Missense_Mutation_p.E829K|FHAD1_ENST00000375999.3_Missense_Mutation_p.E865K			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	865										skin(1)|stomach(1)	2						AAAGGCAACTGAAAGTCTAAA	0.393																																																	0													82.0	74.0	77.0					1																	15684702		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2593G>A	1.37:g.15684702G>A	ENSP00000365166:p.Glu865Lys		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E865K	ENST00000375998.4	37	c.2593		1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813866	0.50527	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.14	4.21	0.49690	.	.	.	.	.	T	0.56470	0.1987	L	0.57536	1.79	0.09310	N	1	D;B;D	0.76494	0.998;0.301;0.999	D;B;D	0.80764	0.994;0.131;0.98	T	0.48103	-0.9064	9	0.06625	T	0.88	.	8.8964	0.35467	0.1009:0.0:0.8991:0.0	.	118;865;865	B7WPP2;B1AJZ9-3;B1AJZ9	.;.;FHAD1_HUMAN	K	865;829;865;865;136;118;100	ENSP00000351770:E865K;ENSP00000407615:E829K;ENSP00000365167:E865K;ENSP00000365166:E865K;ENSP00000434909:E136K;ENSP00000322979:E118K;ENSP00000318812:E100K	ENSP00000318812:E100K	E	+	1	0	FHAD1	15557289	0.727000	0.28069	0.019000	0.16419	0.554000	0.35429	2.934000	0.48956	2.569000	0.86673	0.591000	0.81541	GAA	FHAD1	-	NULL		0.393	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15684702	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	0.020	A
FCGR1B	2210	genome.wustl.edu	37	1	120928571	120928571	+	Intron	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:120928571G>A	ENST00000369384.4	-	5	605				FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Intron|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	CCCTCCAGGAGTGGGGATGTC	0.507																																																	0																																										SO:0001627	intron_variant	2210				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.563-1154C>T	1.37:g.120928571G>A			Q7KZ13|Q92638	RNA	SNP	-	NULL	ENST00000369384.4	37	NULL	CCDS30821.1	1																																																																																			FCGR1B	-	-		0.507	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1B	HGNC	protein_coding	OTTHUMT00000098241.1	G			120928571	-1	no_errors	ENST00000471609	ensembl	human	known	70_37	rna	SNP	0.000	A
FIP1L1	81608	genome.wustl.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	2	Deletion - Frameshift(2)	large_intestine(1)|kidney(1)																																								SO:0001589	frameshift_variant	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	pfam_Fip1	p.E486fs	ENST00000337488.6	37	c.1447_1448	CCDS3491.1	4																																																																																			FIP1L1	-	NULL		0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	AG	NM_030917		54319249	+1	no_errors	ENST00000337488	ensembl	human	known	70_37	frame_shift_del	DEL	0.975:0.991	-
FPR2	2358	genome.wustl.edu	37	19	52272399	52272399	+	Missense_Mutation	SNP	T	T	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:52272399T>G	ENST00000598776.1	+	2	1260	c.488T>G	c.(487-489)tTt>tGt	p.F163C	FPR2_ENST00000340023.6_Missense_Mutation_p.F163C|FPR2_ENST00000598953.1_Missense_Mutation_p.F163C	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	163					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTTTCCTCTTTTTGACTACA	0.517																																																	0													122.0	116.0	118.0					19																	52272399		2203	4300	6503	SO:0001583	missense	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.488T>G	19.37:g.52272399T>G	ENSP00000468897:p.Phe163Cys		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.F163C	ENST00000598776.1	37	c.488	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	16.70	3.197282	0.58126	.	.	ENSG00000171049	ENST00000340023	T	0.74002	-0.8	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.078699	0.53938	U	0.000053	D	0.88336	0.6409	H	0.94964	3.605	0.44595	D	0.997561	D	0.89917	1.0	D	0.79108	0.992	D	0.90209	0.4263	10	0.87932	D	0	.	10.478	0.44676	0.0:0.0:0.0:1.0	.	163	P25090	FPR2_HUMAN	C	163	ENSP00000340191:F163C	ENSP00000340191:F163C	F	+	2	0	FPR2	56964211	1.000000	0.71417	0.017000	0.16124	0.003000	0.03518	4.106000	0.57804	1.650000	0.50662	0.402000	0.26972	TTT	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt		0.517	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	T	NM_001005738		52272399	+1	no_errors	ENST00000340023	ensembl	human	known	70_37	missense	SNP	1.000	G
FRMPD3	84443	genome.wustl.edu	37	X	106844623	106844623	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:106844623C>T	ENST00000276185.4	+	16	3453	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1151						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GAAGCAAGCTCGAAGAGACCA	0.642																																																	0													14.0	15.0	15.0					X																	106844623		869	1983	2852	SO:0001819	synonymous_variant	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3453C>T	X.37:g.106844623C>T			Q96JK8	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.L1151	ENST00000276185.4	37	c.3453		X																																																																																			FRMPD3	-	NULL		0.642	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		C	XM_042978		106844623	+1	no_errors	ENST00000276185	ensembl	human	known	70_37	silent	SNP	0.686	T
FSTL5	56884	genome.wustl.edu	37	4	162841709	162841709	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:162841709C>G	ENST00000306100.5	-	4	692	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	FSTL5_ENST00000536695.1_Missense_Mutation_p.E85Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.E85Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.E85Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	86	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGGCACATTCTGCTTGCCCT	0.453																																																	0													100.0	89.0	92.0					4																	162841709		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.256G>C	4.37:g.162841709C>G	ENSP00000305334:p.Glu86Gln		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E86Q	ENST00000306100.5	37	c.256	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408426	0.83340	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72615	-0.66;-0.64;-0.67;-0.64	5.86	5.86	0.93980	.	0.106865	0.64402	D	0.000009	T	0.76343	0.3974	L	0.37697	1.125	0.58432	D	0.999999	D;D;D	0.71674	0.994;0.985;0.998	P;P;P	0.58620	0.767;0.735;0.842	T	0.75502	-0.3295	10	0.51188	T	0.08	.	19.5509	0.95319	0.0:1.0:0.0:0.0	.	85;85;86	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	86;85;85;85	ENSP00000305334:E86Q;ENSP00000368462:E85Q;ENSP00000389270:E85Q;ENSP00000440409:E85Q	ENSP00000305334:E86Q	E	-	1	0	FSTL5	163061159	1.000000	0.71417	0.953000	0.39169	0.738000	0.42128	5.654000	0.67974	2.937000	0.99478	0.650000	0.86243	GAA	FSTL5	-	NULL		0.453	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162841709	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	G
FUCA2	2519	genome.wustl.edu	37	6	143825101	143825101	+	Missense_Mutation	SNP	G	G	T	rs367663563		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:143825101G>T	ENST00000002165.6	-	3	756	c.701C>A	c.(700-702)cCg>cAg	p.P234Q	RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	234					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTATTGATCCGGTGCTCCTCC	0.453																																																	0													81.0	74.0	76.0					6																	143825101		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.701C>A	6.37:g.143825101G>T	ENSP00000002165:p.Pro234Gln		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P234Q	ENST00000002165.6	37	c.701	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175252	0.57692	.	.	ENSG00000001036	ENST00000002165	T	0.56941	0.43	5.62	5.62	0.85841	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.69476	-0.5135	10	0.52906	T	0.07	-10.7397	19.6537	0.95828	0.0:0.0:1.0:0.0	.	234	Q9BTY2	FUCO2_HUMAN	Q	234	ENSP00000002165:P234Q	ENSP00000002165:P234Q	P	-	2	0	FUCA2	143866794	1.000000	0.71417	0.039000	0.18376	0.005000	0.04900	9.471000	0.97696	2.625000	0.88918	0.650000	0.86243	CCG	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.453	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	G	NM_032020		143825101	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.997	T
FZR1	51343	genome.wustl.edu	37	19	3532541	3532541	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:3532541G>C	ENST00000395095.3	+	10	1135	c.1135G>C	c.(1135-1137)Gac>Cac	p.D379H	FZR1_ENST00000313639.8_Missense_Mutation_p.D290H|FZR1_ENST00000441788.2_Missense_Mutation_p.D379H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	379					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCACAGCTGACCGCTGTAT	0.652																																																	0													37.0	38.0	38.0					19																	3532541		2203	4300	6503	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1135G>C	19.37:g.3532541G>C	ENSP00000378529:p.Asp379His		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D379H	ENST00000395095.3	37	c.1135	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	g	19.95	3.920982	0.73213	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	D;D;D	0.89415	-2.51;-2.51;-2.51	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.99906	4.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.953	D	0.99751	1.1018	10	0.87932	D	0	-41.7024	17.0096	0.86401	0.0:0.0:1.0:0.0	.	379;290;379	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	379;379;290	ENSP00000410369:D379H;ENSP00000378529:D379H;ENSP00000321800:D290H	ENSP00000321800:D290H	D	+	1	0	FZR1	3483541	1.000000	0.71417	0.955000	0.39395	0.369000	0.29798	9.512000	0.98008	2.353000	0.79882	0.537000	0.68136	GAC	FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.652	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	G	NM_016263		3532541	+1	no_errors	ENST00000395095	ensembl	human	known	70_37	missense	SNP	1.000	C
FUT3	2525	genome.wustl.edu	37	19	5844263	5844263	+	Silent	SNP	C	C	T	rs139116734	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:5844263C>T	ENST00000303225.6	-	3	1222	c.588G>A	c.(586-588)gcG>gcA	p.A196A	FUT3_ENST00000589918.1_Silent_p.A196A|FUT3_ENST00000589620.1_Silent_p.A196A|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Silent_p.A196A	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	196					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGTTGGACACCGCCCAGGCCA	0.672																																					Esophageal Squamous(82;745 1728 24593 44831)												0								C	,,,	0,4404		0,0,2202	43.0	44.0	44.0		588,588,588,588	-4.4	0.9	19	dbSNP_134	44	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,	196/362,196/362,196/362,196/362	5844263	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.588G>A	19.37:g.5844263C>T			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	pfam_Glyco_trans_10	p.A196	ENST00000303225.6	37	c.588	CCDS12153.1	19																																																																																			FUT3	-	pfam_Glyco_trans_10		0.672	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	C	NM_000149		5844263	-1	no_errors	ENST00000303225	ensembl	human	known	70_37	silent	SNP	0.910	T
GCC1	79571	genome.wustl.edu	37	7	127222899	127222899	+	Silent	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:127222899G>T	ENST00000321407.2	-	2	1921	c.1497C>A	c.(1495-1497)gcC>gcA	p.A499A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	499					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGACAACCTGGGCTCTCATCT	0.502																																																	0													105.0	95.0	98.0					7																	127222899		2203	4300	6503	SO:0001819	synonymous_variant	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1497C>A	7.37:g.127222899G>T			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.A499	ENST00000321407.2	37	c.1497	CCDS5796.1	7																																																																																			GCC1	-	NULL		0.502	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127222899	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	silent	SNP	0.989	T
GGA2	23062	genome.wustl.edu	37	16	23478655	23478655	+	3'UTR	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:23478655C>A	ENST00000309859.4	-	0	2180				GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGAAATGCTTCGCATTTCCCA	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.*256G>T	16.37:g.23478655C>A			D3DWF0|O14564|Q9NYN2|Q9UPS2	RNA	SNP	-	NULL	ENST00000309859.4	37	NULL	CCDS10611.1	16																																																																																			GGA2	-	-		0.512	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	C			23478655	-1	no_errors	ENST00000566685	ensembl	human	putative	70_37	rna	SNP	0.000	A
GLI3	2737	genome.wustl.edu	37	7	42006024	42006024	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:42006024C>T	ENST00000395925.3	-	15	2731	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	883					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCCGGCCCTCGGCCTGTGAC	0.721									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													21.0	23.0	22.0					7																	42006024		2200	4294	6494	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2647G>A	7.37:g.42006024C>T	ENSP00000379258:p.Glu883Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E883K	ENST00000395925.3	37	c.2647	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385996	0.42308	.	.	ENSG00000106571	ENST00000395925	D	0.94280	-3.39	4.85	4.85	0.62838	.	0.096519	0.64402	D	0.000001	D	0.92143	0.7509	M	0.72479	2.2	0.80722	D	1	P	0.43542	0.81	B	0.37480	0.251	D	0.92385	0.5916	10	0.41790	T	0.15	.	17.9834	0.89148	0.0:1.0:0.0:0.0	.	883	P10071	GLI3_HUMAN	K	883	ENSP00000379258:E883K	ENSP00000379258:E883K	E	-	1	0	GLI3	41972549	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	7.389000	0.79806	2.214000	0.71695	0.462000	0.41574	GAG	GLI3	-	NULL		0.721	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42006024	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.999	T
GLP2R	9340	genome.wustl.edu	37	17	9783806	9783806	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:9783806C>T	ENST00000262441.5	+	11	1770	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	GLP2R_ENST00000574745.1_Silent_p.F239F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	419					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACGACTTTTCATTCAGTTGA	0.403																																																	0													150.0	138.0	142.0					17																	9783806		2203	4300	6503	SO:0001819	synonymous_variant	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1257C>T	17.37:g.9783806C>T			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F419	ENST00000262441.5	37	c.1257	CCDS11150.1	17																																																																																			GLP2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.403	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	C			9783806	+1	no_errors	ENST00000262441	ensembl	human	known	70_37	silent	SNP	1.000	T
GNAO1	2775	genome.wustl.edu	37	16	56370671	56370671	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:56370671G>C	ENST00000262493.6	+	6	1468	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	GNAO1_ENST00000262494.7_Missense_Mutation_p.E208Q	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	208					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCAGCGATCTGAACGCAAGAA	0.597																																																	0													94.0	69.0	77.0					16																	56370671		2198	4300	6498	SO:0001583	missense	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.622G>C	16.37:g.56370671G>C	ENSP00000262493:p.Glu208Gln		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E208Q	ENST00000262493.6	37	c.622	CCDS10756.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.352233	0.95830	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.90197	-2.63;-2.63	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.95770	0.8808	10	0.87932	D	0	.	18.9383	0.92595	0.0:0.0:1.0:0.0	.	208;208	P09471;P09471-2	GNAO_HUMAN;.	Q	208	ENSP00000262493:E208Q;ENSP00000262494:E208Q	ENSP00000262493:E208Q	E	+	1	0	GNAO1	54928172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.460000	0.83146	0.557000	0.71058	GAA	GNAO1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.597	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAO1	HGNC	protein_coding	OTTHUMT00000256981.2	G	NM_020988		56370671	+1	no_errors	ENST00000262493	ensembl	human	known	70_37	missense	SNP	1.000	C
GNPAT	8443	genome.wustl.edu	37	1	231396396	231396396	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:231396396G>A	ENST00000366647.4	+	3	574	c.405G>A	c.(403-405)tcG>tcA	p.S135S	GNPAT_ENST00000366646.3_Silent_p.S74S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	135					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AAATTTTCTCGAAGGTGTGTG	0.308																																																	0													160.0	167.0	164.0					1																	231396396		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.405G>A	1.37:g.231396396G>A			B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S135	ENST00000366647.4	37	c.405	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.308	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	G			231396396	+1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	0.296	A
GPR107	57720	genome.wustl.edu	37	9	132862907	132862907	+	Splice_Site	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:132862907G>A	ENST00000372406.1	+	11	1446		c.e11-1		GPR107_ENST00000347136.6_Splice_Site|GPR107_ENST00000372410.3_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTTGATTTCAGATTGACTACC	0.408																																																	0													160.0	139.0	146.0					9																	132862907		2203	4300	6503	SO:0001630	splice_region_variant	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.940-1G>A	9.37:g.132862907G>A			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	-	e11-1	ENST00000372406.1	37	c.940-1	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821535	0.90873	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3467	0.90325	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR107	131902728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.045000	0.93812	2.665000	0.90641	0.591000	0.81541	.	GPR107	-	-		0.408	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G		Intron	132862907	+1	no_errors	ENST00000372406	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GPR137C	283554	genome.wustl.edu	37	14	53066913	53066913	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:53066913G>A	ENST00000321662.6	+	3	571	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	191						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					AGTTCATGGAGATGTCCCAGA	0.373																																																	0													244.0	214.0	223.0					14																	53066913		1868	4112	5980	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.571G>A	14.37:g.53066913G>A	ENSP00000315106:p.Asp191Asn		Q86SM2	Missense_Mutation	SNP	NULL	p.D191N	ENST00000321662.6	37	c.571	CCDS45106.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279541|2.279541	0.40294|0.40294	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.44881|.	0.91|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.408254|.	0.28431|.	N|.	0.015370|.	T|T	0.50871|0.50871	0.1641|0.1641	N|N	0.22421|0.22421	0.69|0.69	0.39247|0.39247	D|D	0.963965|0.963965	B;B|.	0.30361|.	0.096;0.277|.	B;B|.	0.33042|.	0.068;0.157|.	T|T	0.49881|0.49881	-0.8892|-0.8892	10|5	0.11485|.	T|.	0.65|.	-0.9185|-0.9185	13.0963|13.0963	0.59195|0.59195	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	191;20|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	N|K	191|144	ENSP00000315106:D191N|.	ENSP00000315106:D191N|.	D|R	+|+	1|2	0|0	GPR137C|GPR137C	52136663|52136663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.725000|2.725000	0.47294|0.47294	2.684000|2.684000	0.91462|0.91462	0.591000|0.591000	0.81541|0.81541	GAT|AGA	GPR137C	-	NULL		0.373	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	G	XM_290615		53066913	+1	no_errors	ENST00000321662	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR156	165829	genome.wustl.edu	37	3	119892198	119892198	+	Silent	SNP	C	C	T	rs530427940		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:119892198C>T	ENST00000464295.1	-	9	1498	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	GPR156_ENST00000315843.3_Silent_p.P351P|GPR156_ENST00000461057.1_Silent_p.P347P			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	351						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTCTCCCCTCGGGTGGCAGT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19013	0.0		0.0	False		,,,				2504	0.001																0													153.0	138.0	143.0					3																	119892198		2203	4300	6503	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1053G>A	3.37:g.119892198C>T			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.P351	ENST00000464295.1	37	c.1053	CCDS2997.1	3																																																																																			GPR156	-	NULL		0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119892198	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	0.004	T
GRHPR	9380	genome.wustl.edu	37	9	37428495	37428495	+	Missense_Mutation	SNP	C	C	T	rs566239341		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:37428495C>T	ENST00000318158.6	+	5	504	c.419C>T	c.(418-420)tCg>tTg	p.S140L	GRHPR_ENST00000607784.1_Missense_Mutation_p.S140L|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	140					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTGGACCTCGTGGAAGCCC	0.667																																																	0													87.0	93.0	91.0					9																	37428495		2203	4300	6503	SO:0001583	missense	9380			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.419C>T	9.37:g.37428495C>T	ENSP00000313432:p.Ser140Leu		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420	p.S140L	ENST00000318158.6	37	c.419	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.458961	0.96240	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.291144	0.35585	N	0.003120	T	0.69106	0.3074	N	0.26130	0.795	0.58432	D	0.999998	P;B;B	0.43542	0.81;0.107;0.107	B;B;B	0.37731	0.257;0.087;0.087	T	0.71293	-0.4636	10	0.45353	T	0.12	-20.2702	20.0408	0.97588	0.0:1.0:0.0:0.0	.	140;140;140	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	L	140	ENSP00000367055:S140L;ENSP00000313432:S140L	ENSP00000313432:S140L	S	+	2	0	GRHPR	37418495	0.998000	0.40836	0.724000	0.30704	0.935000	0.57460	7.569000	0.82380	2.741000	0.93983	0.650000	0.86243	TCG	GRHPR	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	C	NM_012203		37428495	+1	no_errors	ENST00000377824	ensembl	human	known	70_37	missense	SNP	0.996	T
HEPN1	641654	genome.wustl.edu	37	11	124789809	124789809	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:124789809C>T	ENST00000408930.5	+	1	664	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	55						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CCTCTCTCCTCACACAGTAGA	0.498																																																	0													89.0	90.0	89.0					11																	124789809		1912	4143	6055	SO:0001583	missense	641654			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.163C>T	11.37:g.124789809C>T	ENSP00000386143:p.His55Tyr			Missense_Mutation	SNP	NULL	p.H55Y	ENST00000408930.5	37	c.163	CCDS41729.1	11	.	.	.	.	.	.	.	.	.	.	C	5.272	0.235527	0.10023	.	.	ENSG00000221932	ENST00000408930	T	0.53640	0.61	4.51	0.66	0.17868	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27571	-1.0070	8	0.87932	D	0	.	5.8956	0.18937	0.0:0.5851:0.1505:0.2645	.	55	Q6WQI6	HEPN1_HUMAN	Y	55	ENSP00000386143:H55Y	ENSP00000386143:H55Y	H	+	1	0	HEPN1	124295019	0.024000	0.19004	0.000000	0.03702	0.071000	0.16799	0.046000	0.14035	-0.405000	0.07599	-1.946000	0.00489	CAC	HEPN1	-	NULL		0.498	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPN1	HGNC	protein_coding	OTTHUMT00000387129.1	C	NM_001037558		124789809	+1	no_errors	ENST00000408930	ensembl	human	known	70_37	missense	SNP	0.019	T
SGCA	6442	genome.wustl.edu	37	17	48248955	48248955	+	Intron	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:48248955G>T	ENST00000262018.3	+	8	1019				HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)						muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GTAGTGACCTGTGCTGTCCAA	0.602																																																	0																																										SO:0001627	intron_variant	373861			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.983+928G>T	17.37:g.48248955G>T			A6NEB8|A8K3K7|Q13710|Q13712	RNA	SNP	-	NULL	ENST00000262018.3	37	NULL	CCDS32679.1	17																																																																																			HILS1	-	-		0.602	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILS1	HGNC	protein_coding	OTTHUMT00000366841.1	G	NM_000023		48248955	-1	no_errors	ENST00000504307	ensembl	human	known	70_37	rna	SNP	0.000	T
HIST1H4E	8367	genome.wustl.edu	37	6	26205062	26205062	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:26205062G>A	ENST00000360441.4	+	1	205	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTGTTTCTGGAAAACGTGAT	0.572																																																	0													131.0	119.0	123.0					6																	26205062		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.190G>A	6.37:g.26205062G>A	ENSP00000353624:p.Glu64Lys		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E64K	ENST00000360441.4	37	c.190	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	18.10	3.547700	0.65311	.	.	ENSG00000198518	ENST00000360441	T	0.70869	-0.52	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.69895	0.3162	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.73777	-0.3876	7	0.54805	T	0.06	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	K	64	ENSP00000353624:E64K	ENSP00000353624:E64K	E	+	1	0	HIST1H4E	26313041	1.000000	0.71417	0.728000	0.30774	0.008000	0.06430	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	GAA	HIST1H4E	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.572	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	G	NM_003545		26205062	+1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H2BG	8339	genome.wustl.edu	37	6	26216847	26216847	+	Missense_Mutation	SNP	G	G	A	rs149681157		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:26216847G>A	ENST00000244601.3	-	1	25	c.25C>T	c.(25-27)Cct>Tct	p.P9S	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCGGAGCAGGAGCTGACTTA	0.483																																																	0								G	SER/PRO	0,4406		0,0,2203	103.0	95.0	98.0		25	3.9	0.0	6	dbSNP_134	98	1,8599		0,1,4299	yes	missense	HIST1H2BG	NM_003518.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	9/127	26216847	1,13005	2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.25C>T	6.37:g.26216847G>A	ENSP00000244601:p.Pro9Ser		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P9S	ENST00000244601.3	37	c.25	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460680	0.63513	0.0	1.16E-4	ENSG00000187990	ENST00000244601	T	0.21932	1.98	3.9	3.9	0.45041	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.39058	D	0.960462	.	.	.	.	.	.	T	0.14227	-1.0480	6	0.72032	D	0.01	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	S	9	ENSP00000244601:P9S	ENSP00000244601:P9S	P	-	1	0	HIST1H2BG	26324826	1.000000	0.71417	0.030000	0.17652	0.150000	0.21749	5.481000	0.66826	2.163000	0.67991	0.655000	0.94253	CCT	HIST1H2BG	-	superfamily_Histone-fold		0.483	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	G	NM_003518		26216847	-1	no_errors	ENST00000244601	ensembl	human	known	70_37	missense	SNP	0.997	A
HLA-DMA	3108	genome.wustl.edu	37	6	32917176	32917176	+	Splice_Site	SNP	A	A	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:32917176A>G	ENST00000374843.4	-	4	738	c.653T>C	c.(652-654)gTa>gCa	p.V218A	HLA-DMA_ENST00000395305.3_Splice_Site_p.V123A|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Splice_Site_p.V184A	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	218	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCCGGGGTACTGGAGGAAA	0.597																																																	0													67.0	63.0	65.0					6																	32917176		2203	4300	6503	SO:0001630	splice_region_variant	3108				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.653-1T>C	6.37:g.32917176A>G			Q29639|Q29640	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.V218A	ENST00000374843.4	37	c.653	CCDS4761.1	6	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323213	0.41096	.	.	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01430	5.45;4.9;5.93;5.89	5.13	5.13	0.70059	.	0.153917	0.44097	D	0.000496	T	0.01454	0.0047	M	0.64997	1.995	0.40106	D	0.976436	P	0.51057	0.941	P	0.45753	0.492	T	0.59726	-0.7400	10	0.59425	D	0.04	.	11.4947	0.50402	1.0:0.0:0.0:0.0	.	218	Q31604	.	A	123;184;218;248	ENSP00000378716:V123A;ENSP00000378714:V184A;ENSP00000363976:V218A;ENSP00000409668:V248A	ENSP00000363976:V218A	V	-	2	0	HLA-DMA	33025154	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.471000	0.60182	2.281000	0.76405	0.523000	0.50628	GTA	HLA-DMA	-	NULL		0.597	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	HGNC	protein_coding	OTTHUMT00000076325.2	A	NM_006120	Missense_Mutation	32917176	-1	no_errors	ENST00000374843	ensembl	human	known	70_37	missense	SNP	1.000	G
HNF1B	6928	genome.wustl.edu	37	17	36059118	36059118	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:36059118G>T	ENST00000225893.4	-	8	1978	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	HNF1B_ENST00000561193.1_Missense_Mutation_p.S513R|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	539					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGTACTGATGCTGCTGGTAT	0.537																																					Colon(71;102 1179 9001 27917 43397)												0													152.0	126.0	135.0					17																	36059118		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1617C>A	17.37:g.36059118G>T	ENSP00000225893:p.Ser539Arg		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.S539R	ENST00000225893.4	37	c.1617	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698303	0.68386	.	.	ENSG00000108753	ENST00000225893;ENST00000539087	D	0.97811	-4.55	5.63	4.65	0.58169	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.69823	2.125	0.80722	D	1	D;D	0.58970	0.966;0.984	P;P	0.62184	0.773;0.899	D	0.97959	1.0336	10	0.62326	D	0.03	-3.6519	14.5893	0.68351	0.0735:0.0:0.9265:0.0	.	513;539	E0YMJ6;P35680	.;HNF1B_HUMAN	R	539;427	ENSP00000225893:S539R	ENSP00000225893:S539R	S	-	3	2	HNF1B	33133231	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	5.301000	0.65727	2.826000	0.97356	0.655000	0.94253	AGC	HNF1B	-	pfam_HNF1b_C		0.537	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	G	NM_000458		36059118	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	missense	SNP	1.000	T
IDH3A	3419	genome.wustl.edu	37	15	78454651	78454651	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:78454651G>C	ENST00000299518.2	+	6	636	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.E150Q|IDH3A_ENST00000441490.2_Missense_Mutation_p.E76Q|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	185					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						GTTTGCCTTTGAGTATGCCCG	0.567																																																	0													147.0	119.0	128.0					15																	78454651		2196	4293	6489	SO:0001583	missense	3419				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.553G>C	15.37:g.78454651G>C	ENSP00000299518:p.Glu185Gln		D3DW83|Q9H3X0	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.E185Q	ENST00000299518.2	37	c.553	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544226	0.65198	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.56941	0.43;0.43	5.65	5.65	0.86999	Isopropylmalate dehydrogenase-like domain (2);	0.045751	0.85682	D	0.000000	T	0.48223	0.1488	L	0.35854	1.095	0.80722	D	1	B;B;B	0.21452	0.044;0.022;0.056	B;B;B	0.31390	0.129;0.046;0.101	T	0.34601	-0.9822	10	0.18710	T	0.47	-21.017	18.6988	0.91613	0.0:0.0:1.0:0.0	.	150;135;185	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	Q	185;76	ENSP00000299518:E185Q;ENSP00000387506:E76Q	ENSP00000299518:E185Q	E	+	1	0	IDH3A	76241706	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.706000	0.98722	2.669000	0.90835	0.491000	0.48974	GAG	IDH3A	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.567	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	G	NM_005530		78454651	+1	no_errors	ENST00000299518	ensembl	human	known	70_37	missense	SNP	1.000	C
IDUA	3425	genome.wustl.edu	37	4	997845	997845	+	Silent	SNP	G	G	A	rs148894462		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:997845G>A	ENST00000247933.4	+	13	1861	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	IDUA_ENST00000514224.1_Silent_p.A459A|IDUA_ENST00000453894.1_Silent_p.A613A	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	591			A -> T. {ECO:0000269|PubMed:21394825}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGTAAGGCGTACACCCCGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	190.0	188.0	189.0		1773	-5.2	0.0	4	dbSNP_134	189	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	IDUA	NM_000203.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		591/654	997845	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3425			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1773G>A	4.37:g.997845G>A			B3KWK6	Silent	SNP	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.A613	ENST00000247933.4	37	c.1839	CCDS3343.1	4																																																																																			IDUA	-	superfamily_Fibronectin_type3		0.607	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1	G	NM_000203		997845	+1	no_errors	ENST00000453894	ensembl	human	known	70_37	silent	SNP	0.000	A
IL11RA	3590	genome.wustl.edu	37	9	34656836	34656836	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:34656836G>A	ENST00000555003.1	+	4	1618	c.262G>A	c.(262-264)Gat>Aat	p.D88N	IL11RA_ENST00000318041.9_Missense_Mutation_p.D88N|IL11RA_ENST00000441545.2_Missense_Mutation_p.D88N|GALT_ENST00000556278.1_Missense_Mutation_p.D232N|IL11RA_ENST00000378817.4_Missense_Mutation_p.D88N|IL11RA_ENST00000602473.1_Missense_Mutation_p.D88N|IL11RA_ENST00000478802.2_3'UTR			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	88	Ig-like C2-type.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGACAGCACTGATGAGGGCAC	0.622																																																	0													66.0	59.0	61.0					9																	34656836		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.262G>A	9.37:g.34656836G>A	ENSP00000450565:p.Asp88Asn		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D88N	ENST00000555003.1	37	c.262	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878980	0.72294	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;D;T	0.86956	0.96;0.96;0.96;0.96;0.96;0.96;-2.19;0.96	5.34	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.939567	0.09182	N	0.837236	D	0.88422	0.6432	L	0.47716	1.5	0.31216	N	0.69811	D	0.62365	0.991	P	0.56088	0.791	T	0.80783	-0.1228	10	0.18276	T	0.48	-14.3012	11.8571	0.52444	0.0:0.1755:0.8245:0.0	.	88	Q14626	I11RA_HUMAN	N	232;88;88;88;88;88;88;88	ENSP00000451792:D232N;ENSP00000450565:D88N;ENSP00000394391:D88N;ENSP00000450543:D88N;ENSP00000368094:D88N;ENSP00000326500:D88N;ENSP00000451447:D88N;ENSP00000450640:D88N	ENSP00000326500:D88N	D	+	1	0	RP11-195F19.29;IL11RA	34646836	0.887000	0.30362	0.689000	0.30133	0.993000	0.82548	2.483000	0.45233	1.464000	0.47987	0.655000	0.94253	GAT	IL11RA	-	smart_Ig_sub,pfscan_Ig-like		0.622	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	G	NM_001142784		34656836	+1	no_errors	ENST00000318041	ensembl	human	known	70_37	missense	SNP	0.823	A
IL17RD	54756	genome.wustl.edu	37	3	57139966	57139966	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:57139966C>T	ENST00000296318.7	-	7	754	c.666G>A	c.(664-666)ccG>ccA	p.P222P	IL17RD_ENST00000320057.5_Silent_p.P78P|IL17RD_ENST00000463523.1_Silent_p.P78P|IL17RD_ENST00000427856.2_Silent_p.P198P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	222					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGAAGTTGTGCGGTGCATGGT	0.527																																																	0													73.0	67.0	69.0					3																	57139966		2203	4300	6503	SO:0001819	synonymous_variant	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.666G>A	3.37:g.57139966C>T			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.P222	ENST00000296318.7	37	c.666	CCDS2880.2	3																																																																																			IL17RD	-	NULL		0.527	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	C	NM_017563		57139966	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	silent	SNP	0.561	T
IL27RA	9466	genome.wustl.edu	37	19	14153355	14153355	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:14153355C>T	ENST00000263379.2	+	5	750	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	209	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGGCCGCTGCCGGATGGAGAA	0.562											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)												0													94.0	98.0	96.0					19																	14153355		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.625C>T	19.37:g.14153355C>T	ENSP00000263379:p.Arg209Trp	692	A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R209W	ENST00000263379.2	37	c.625	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499447	0.44455	.	.	ENSG00000104998	ENST00000263379	T	0.56444	0.46	4.69	3.63	0.41609	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.991351	0.08174	N	0.986521	T	0.49474	0.1559	N	0.24115	0.695	0.25642	N	0.986197	D	0.69078	0.997	P	0.50754	0.649	T	0.41251	-0.9519	10	0.66056	D	0.02	.	10.5966	0.45341	0.1933:0.8067:0.0:0.0	.	209	Q6UWB1	I27RA_HUMAN	W	209	ENSP00000263379:R209W	ENSP00000263379:R209W	R	+	1	2	IL27RA	14014355	0.924000	0.31332	0.729000	0.30791	0.120000	0.20174	1.351000	0.34022	1.254000	0.44035	0.655000	0.94253	CGG	IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.562	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	C	NM_004843		14153355	+1	no_errors	ENST00000263379	ensembl	human	known	70_37	missense	SNP	0.890	T
ITPR2	3709	genome.wustl.edu	37	12	26639267	26639267	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:26639267C>G	ENST00000381340.3	-	41	5997	c.5581G>C	c.(5581-5583)Gag>Cag	p.E1861Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1861					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATTCCCTCTTTTAAATGT	0.313																																																	0													140.0	127.0	131.0					12																	26639267		1836	4083	5919	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5581G>C	12.37:g.26639267C>G	ENSP00000370744:p.Glu1861Gln		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E1861Q	ENST00000381340.3	37	c.5581	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296006	0.60086	.	.	ENSG00000123104	ENST00000381340	D	0.90069	-2.61	4.92	4.92	0.64577	.	0.176459	0.49305	D	0.000154	D	0.86497	0.5947	L	0.45581	1.43	0.80722	D	1	B	0.13594	0.008	B	0.12156	0.007	T	0.82637	-0.0359	10	0.46703	T	0.11	.	18.3171	0.90225	0.0:1.0:0.0:0.0	.	1861	Q14571	ITPR2_HUMAN	Q	1861	ENSP00000370744:E1861Q	ENSP00000370744:E1861Q	E	-	1	0	ITPR2	26530534	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.539000	0.67199	2.550000	0.86006	0.655000	0.94253	GAG	ITPR2	-	superfamily_ARM-type_fold		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26639267	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNAB1	7881	genome.wustl.edu	37	3	155755532	155755532	+	IGR	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:155755532C>G								GMPS (93717 upstream) : KCNAB1 (82804 downstream)																							CTAATACTCTCAGGTAACATT	0.393																																																	0																																										SO:0001628	intergenic_variant	7881																															3.37:g.155755532C>G				RNA	SNP	-	NULL		37	NULL		3																																																																																			KCNAB1	-	-	0	0.393					KCNAB1	HGNC			C			155755532	+1	no_errors	ENST00000477912	ensembl	human	known	70_37	rna	SNP	0.000	G
KDM5A	5927	genome.wustl.edu	37	12	416705	416705	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:416705C>T	ENST00000399788.2	-	23	4207	c.3845G>A	c.(3844-3846)cGt>cAt	p.R1282H	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1282H	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1282					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTCCACCATACGCTGGCTCAA	0.488			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													97.0	95.0	95.0					12																	416705		2000	4184	6184	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3845G>A	12.37:g.416705C>T	ENSP00000382688:p.Arg1282His		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R1282H	ENST00000399788.2	37	c.3845	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.243929	0.95272	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85702	-2.02;-1.83	5.66	5.66	0.87406	.	0.101033	0.64402	D	0.000001	D	0.89255	0.6663	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74348	0.962;0.983	D	0.89858	0.4014	10	0.87932	D	0	-13.3103	20.0973	0.97856	0.0:1.0:0.0:0.0	.	1282;1282	P29375;P29375-2	KDM5A_HUMAN;.	H	1282	ENSP00000382688:R1282H;ENSP00000372265:R1282H	ENSP00000372265:R1282H	R	-	2	0	KDM5A	286966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.830000	0.97506	0.585000	0.79938	CGT	KDM5A	-	NULL		0.488	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		416705	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37445135	37445135	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:37445135C>G	ENST00000309447.5	+	7	2373	c.1525C>G	c.(1525-1527)Cta>Gta	p.L509V		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		509	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GCAGAGACCTCTAGTCATAAT	0.458																																																	0													79.0	69.0	72.0					4																	37445135		692	1591	2283	SO:0001583	missense	57495																														ENST00000309447.5:c.1525C>G	4.37:g.37445135C>G	ENSP00000309501:p.Leu509Val		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L509V	ENST00000309447.5	37	c.1525	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739020	0.69304	.	.	ENSG00000174145	ENST00000309447	T	0.80304	-1.36	6.06	5.22	0.72569	.	.	.	.	.	D	0.85522	0.5716	L	0.49513	1.565	0.54753	D	0.999986	D	0.69078	0.997	D	0.79108	0.992	T	0.82186	-0.0582	9	0.29301	T	0.29	.	13.9402	0.64050	0.0:0.8776:0.0:0.1224	.	509	Q9ULI1	K1239_HUMAN	V	509	ENSP00000309501:L509V	ENSP00000309501:L509V	L	+	1	2	KIAA1239	37121530	0.827000	0.29292	0.884000	0.34674	0.996000	0.88848	1.592000	0.36676	2.880000	0.98712	0.650000	0.86243	CTA	KIAA1239	-	NULL		0.458	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	C			37445135	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	missense	SNP	0.963	G
KIAA1109	84162	genome.wustl.edu	37	4	123094304	123094304	+	Missense_Mutation	SNP	A	A	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:123094304A>T	ENST00000264501.4	+	4	584	c.211A>T	c.(211-213)Att>Ttt	p.I71F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I71F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I71F			Q2LD37	K1109_HUMAN	KIAA1109	71					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTATATCCATATTGGTGAGTT	0.328																																																	0													144.0	137.0	139.0					4																	123094304		1823	4078	5901	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.211A>T	4.37:g.123094304A>T	ENSP00000264501:p.Ile71Phe		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.I71F	ENST00000264501.4	37	c.211	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225394	0.79576	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.35973	1.88;1.88;1.28	5.6	5.6	0.85130	.	0.000000	0.41938	U	0.000794	T	0.29652	0.0740	L	0.39898	1.24	0.80722	D	1	P	0.44877	0.845	B	0.36719	0.231	T	0.05733	-1.0867	10	0.36615	T	0.2	.	15.4475	0.75243	1.0:0.0:0.0:0.0	.	71	Q2LD37	K1109_HUMAN	F	71	ENSP00000264501:I71F;ENSP00000373390:I71F;ENSP00000389925:I71F	ENSP00000264501:I71F	I	+	1	0	KIAA1109	123313754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.900000	0.75687	2.136000	0.66102	0.533000	0.62120	ATT	KIAA1109	-	NULL		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123094304	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1549	57670	genome.wustl.edu	37	7	138566166	138566166	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:138566166C>G	ENST00000422774.1	-	11	4245	c.4197G>C	c.(4195-4197)aaG>aaC	p.K1399N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.K1349N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.K1399N			Q9HCM3	K1549_HUMAN	KIAA1549	1399						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGAAGGGATCTTTGACTTGG	0.478			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													145.0	149.0	147.0					7																	138566166		2009	4168	6177	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4197G>C	7.37:g.138566166C>G	ENSP00000416040:p.Lys1399Asn		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.K1399N	ENST00000422774.1	37	c.4197	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287135	0.59867	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27557	1.66;1.66;1.68	5.75	4.82	0.62117	.	0.095155	0.64402	D	0.000001	T	0.50103	0.1596	M	0.69823	2.125	0.49130	D	0.999754	D;P;D;P	0.61697	0.99;0.865;0.988;0.865	P;B;P;B	0.60886	0.88;0.301;0.81;0.301	T	0.42464	-0.9450	10	0.38643	T	0.18	.	15.0166	0.71591	0.0:0.8573:0.1427:0.0	.	1399;183;1399;183	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	N	1399;1349;1399	ENSP00000406661:K1399N;ENSP00000242365:K1349N;ENSP00000416040:K1399N	ENSP00000242365:K1349N	K	-	3	2	KIAA1549	138216706	0.969000	0.33509	0.528000	0.27938	0.721000	0.41392	2.269000	0.43346	2.716000	0.92895	0.655000	0.94253	AAG	KIAA1549	-	NULL		0.478	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138566166	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.942	G
GPALPP1	55425	genome.wustl.edu	37	13	45563760	45563760	+	5'UTR	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:45563760C>T	ENST00000379151.4	+	0	74				RP11-321C24.1_ENST00000437748.2_lincRNA|NUFIP1_ENST00000379161.4_5'Flank|GPALPP1_ENST00000361121.2_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1																		TGGATAGACTCATATCTGTGA	0.597																																																	0													54.0	59.0	57.0					13																	45563760		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.-30C>T	13.37:g.45563760C>T			A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	RNA	SNP	-	NULL	ENST00000379151.4	37	NULL	CCDS9394.1	13																																																																																			KIAA1704	-	-		0.597	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1704	HGNC	protein_coding	OTTHUMT00000044749.2	C	NM_018559		45563760	+1	no_errors	ENST00000479068	ensembl	human	known	70_37	rna	SNP	0.000	T
KIAA1755	85449	genome.wustl.edu	37	20	36846737	36846737	+	Missense_Mutation	SNP	C	C	T	rs139310550		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:36846737C>T	ENST00000279024.4	-	12	2859	c.2588G>A	c.(2587-2589)cGg>cAg	p.R863Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	863										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGCAGGCACCGCCTTCCTTC	0.582																																																	0								C	GLN/ARG	0,4406		0,0,2203	73.0	64.0	67.0		2588	-2.5	0.8	20	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1755	NM_001029864.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	863/1201	36846737	1,13005	2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2588G>A	20.37:g.36846737C>T	ENSP00000279024:p.Arg863Gln		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.R863Q	ENST00000279024.4	37	c.2588	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386424	0.04966	0.0	1.16E-4	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.34072	3.52;1.38	4.91	-2.45	0.06481	.	1.215000	0.06258	N	0.693348	T	0.19327	0.0464	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.043	B;B	0.15484	0.013;0.008	T	0.19224	-1.0312	10	0.09843	T	0.71	.	6.3098	0.21159	0.0:0.337:0.1437:0.5193	.	863;371	Q5JYT7;E9PFS1	K1755_HUMAN;.	Q	863;371;162	ENSP00000279024:R863Q;ENSP00000393503:R162Q	ENSP00000279024:R863Q	R	-	2	0	KIAA1755	36280151	0.000000	0.05858	0.762000	0.31397	0.010000	0.07245	-1.283000	0.02796	-0.219000	0.10003	-0.258000	0.10820	CGG	KIAA1755	-	NULL		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36846737	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	missense	SNP	0.008	T
KIAA2022	340533	genome.wustl.edu	37	X	73960742	73960742	+	Missense_Mutation	SNP	C	C	T	rs143271748		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:73960742C>T	ENST00000055682.6	-	3	4261	c.3650G>A	c.(3649-3651)cGc>cAc	p.R1217H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1217					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGGGACCTGGCGGGAGTTTTT	0.473																																																	0								C	HIS/ARG	1,3834		0,1,1631,571	90.0	81.0	84.0		3650	4.2	1.0	X	dbSNP_134	84	0,6728		0,0,2428,1872	no	missense	KIAA2022	NM_001008537.2	29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	1217/1517	73960742	1,10562	2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3650G>A	X.37:g.73960742C>T	ENSP00000055682:p.Arg1217His		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.R1217H	ENST00000055682.6	37	c.3650	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458366	0.43634	2.61E-4	0.0	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29397	1.57;1.57	5.11	4.25	0.50352	.	0.235442	0.43416	N	0.000565	T	0.24275	0.0588	L	0.34521	1.04	0.58432	D	0.999999	B	0.30211	0.273	B	0.26094	0.066	T	0.06356	-1.0831	10	0.87932	D	0	-2.3472	12.8531	0.57869	0.0:0.9198:0.0:0.0801	.	1217	Q5QGS0	K2022_HUMAN	H	1217	ENSP00000362567:R1217H;ENSP00000055682:R1217H	ENSP00000055682:R1217H	R	-	2	0	KIAA2022	73877467	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.552000	0.53705	1.141000	0.42275	-0.192000	0.12808	CGC	KIAA2022	-	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73960742	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF24	347240	genome.wustl.edu	37	9	34257704	34257704	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:34257704C>G	ENST00000402558.2	-	10	1925	c.1901G>C	c.(1900-1902)aGa>aCa	p.R634T	KIF24_ENST00000379166.2_Missense_Mutation_p.R634T|KIF24_ENST00000379174.3_Missense_Mutation_p.R500T|KIF24_ENST00000345050.2_Missense_Mutation_p.R500T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	634					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGGACTCCCTCTGGAGCCACC	0.532																																																	0													53.0	45.0	48.0					9																	34257704		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1901G>C	9.37:g.34257704C>G	ENSP00000384433:p.Arg634Thr		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R634T	ENST00000402558.2	37	c.1901	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116132	0.37339	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72942	-0.51;-0.7;-0.51;-0.7	5.31	0.664	0.17890	.	0.583908	0.14437	N	0.319609	T	0.56834	0.2012	L	0.60455	1.87	0.28634	N	0.907504	P	0.38922	0.651	B	0.32677	0.15	T	0.51076	-0.8751	10	0.40728	T	0.16	.	4.0554	0.09814	0.16:0.4204:0.0:0.4196	.	634	Q5T7B8	KIF24_HUMAN	T	634;500;634;500;634	ENSP00000384433:R634T;ENSP00000368472:R500T;ENSP00000368464:R634T;ENSP00000340179:R500T	ENSP00000340179:R500T	R	-	2	0	KIF24	34247704	0.995000	0.38212	0.883000	0.34634	0.363000	0.29612	0.182000	0.16900	0.207000	0.20607	0.655000	0.94253	AGA	KIF24	-	NULL		0.532	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34257704	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	0.852	G
KIR2DL3	3804	genome.wustl.edu	37	19	55263147	55263147	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:55263147C>T	ENST00000342376.3	+	6	793	c.762C>T	c.(760-762)atC>atT	p.I254I	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	254					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CAGTGGtcatcatcctcttca	0.483																																																	0													174.0	146.0	156.0					19																	55263147		1426	2575	4001	SO:0001819	synonymous_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.762C>T	19.37:g.55263147C>T			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.I254	ENST00000342376.3	37	c.762	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL		0.483	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	C			55263147	+1	no_errors	ENST00000342376	ensembl	human	known	70_37	silent	SNP	0.008	T
Unknown	0	genome.wustl.edu	37	GL000209.1	84092	84092	+	IGR	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrGL000209.1:84092G>C								None (None upstream) : None (None downstream)																							CCAGGATTCTGATGAACAAGA	0.512																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.84092G>C				Nonstop_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.*388S		37	c.1163		GL000209.1																																																																																			KIR3DS1	-	NULL	0	0.512					KIR3DS1	HGNC			G			84092	+1	no_errors	ENST00000400847	ensembl	human	known	70_37	nonstop	SNP	NULL	C
LAMA4	3910	genome.wustl.edu	37	6	112575049	112575049	+	Intron	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:112575049C>G	ENST00000230538.7	-	2	593				RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.E102Q|LAMA4_ENST00000453937.2_Missense_Mutation_p.E102Q|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000585450.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTGAAACTCTCAAGGCACTGG	0.542																																																	0													49.0	56.0	54.0					6																	112575049		2147	4295	6442	SO:0001627	intron_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.195+108G>C	6.37:g.112575049C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	NULL	p.E102Q	ENST00000230538.7	37	c.304	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188338	0.57909	.	.	ENSG00000112769	ENST00000368638;ENST00000453937;ENST00000455073	.	.	.	5.0	-8.81	0.00813	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.21151	0.033	T	0.24083	-1.0170	7	0.87932	D	0	.	0.6289	0.00791	0.2224:0.2027:0.3014:0.2734	.	102	Q16363-3	.	Q	102	.	ENSP00000357627:E102Q	E	-	1	0	LAMA4	112681742	0.010000	0.17322	0.000000	0.03702	0.031000	0.12232	0.657000	0.24963	-1.852000	0.01166	0.467000	0.42956	GAG	LAMA4	-	NULL		0.542	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112575049	-1	no_errors	ENST00000368638	ensembl	human	known	70_37	missense	SNP	0.000	G
LARP4B	23185	genome.wustl.edu	37	10	909788	909788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:909788C>A	ENST00000316157.3	-	4	365	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	109					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GCGGCATTCTCATGGCCCTGG	0.502																																																	0													98.0	94.0	96.0					10																	909788		2203	4300	6503	SO:0001587	stop_gained	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.325G>T	10.37:g.909788C>A	ENSP00000326128:p.Glu109*		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.E109*	ENST00000316157.3	37	c.325	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777915	0.31502	.	.	ENSG00000107929	ENST00000316157;ENST00000406525	.	.	.	5.42	4.49	0.54785	.	0.720233	0.14714	N	0.302754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.4634	12.5876	0.56426	0.0:0.5833:0.4167:0.0	.	.	.	.	X	109	.	ENSP00000326128:E109X	E	-	1	0	LARP4B	899788	1.000000	0.71417	0.877000	0.34402	0.010000	0.07245	3.936000	0.56568	2.500000	0.84329	0.655000	0.94253	GAG	LARP4B	-	NULL		0.502	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	C	NM_015155		909788	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	nonsense	SNP	0.926	A
LDLRAD4	753	genome.wustl.edu	37	18	13612849	13612849	+	Intron	SNP	G	G	C	rs563320104	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:13612849G>C	ENST00000359446.5	+	4	649				LDLRAD4_ENST00000361205.4_Intron|LDLRAD4_ENST00000586765.1_Intron|MIR4526_ENST00000583168.1_RNA|LDLRAD4_ENST00000585931.1_Intron|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000399848.3_Intron|LDLRAD4_ENST00000587757.1_Intron	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AGTTTGGTCTGAGGACAGAGC	0.443																																																	0																																										SO:0001627	intron_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.182-8267G>C	18.37:g.13612849G>C			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	RNA	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			LDLRAD4	-	-		0.443	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13612849	+1	no_errors	ENST00000590308	ensembl	human	known	70_37	rna	SNP	0.240	C
LLGL1	3996	genome.wustl.edu	37	17	18141887	18141887	+	Missense_Mutation	SNP	C	C	T	rs138380942		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:18141887C>T	ENST00000316843.4	+	16	2266	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	724					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGGTGTCGTGCGTTGCCTATA	0.647																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	46.0	50.0		2170	2.4	0.6	17	dbSNP_134	50	0,8600		0,0,4300	no	missense	LLGL1	NM_004140.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	724/1065	18141887	1,13005	2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2170C>T	17.37:g.18141887C>T	ENSP00000321537:p.Arg724Cys		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.R724C	ENST00000316843.4	37	c.2170	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100489	0.56183	2.27E-4	0.0	ENSG00000131899	ENST00000316843	T	0.36340	1.26	5.52	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56432	-0.7980	10	0.51188	T	0.08	-26.6608	8.1233	0.30984	0.1294:0.7346:0.0:0.136	.	724	Q15334	L2GL1_HUMAN	C	724	ENSP00000321537:R724C	ENSP00000321537:R724C	R	+	1	0	LLGL1	18082612	1.000000	0.71417	0.550000	0.28217	0.201000	0.24016	5.848000	0.69458	0.287000	0.22375	0.561000	0.74099	CGT	LLGL1	-	superfamily_WD40_repeat_dom		0.647	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	C			18141887	+1	no_errors	ENST00000316843	ensembl	human	known	70_37	missense	SNP	1.000	T
RP11-467N20.5	0	genome.wustl.edu	37	15	23406517	23406517	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:23406517C>G	ENST00000558241.1	-	8	2409	c.2319G>C	c.(2317-2319)aaG>aaC	p.K773N																	endometrium(1)	1						gcctccgcatcttctcctcct	0.537																																																	0																																										SO:0001583	missense	440233																														ENST00000558241.1:c.2319G>C	15.37:g.23406517C>G	ENSP00000453436:p.Lys773Asn			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.K773N	ENST00000558241.1	37	c.2319		15																																																																																			RP11-467N20.5	-	NULL		0.537	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	LOC440233	Clone_based_vega_gene	protein_coding	OTTHUMT00000415942.1	C			23406517	-1	no_errors	ENST00000558241	ensembl	human	novel	70_37	missense	SNP	0.029	G
LOC644669	644669	genome.wustl.edu	37	18	15325556	15325556	+	RNA	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:15325556C>G	ENST00000455308.2	-	0	486					NR_027417.1																						TAATGTCTACCTTGTTCTTCA	0.333																																																	0																																												644669																															18.37:g.15325556C>G				RNA	SNP	-	NULL	ENST00000455308.2	37	NULL		18																																																																																			AP005901.1	-	-		0.333	AP005901.1-001	KNOWN	basic	processed_transcript	LOC644669	Clone_based_vega_gene	pseudogene	OTTHUMT00000373635.1	C			15325556	-1	no_errors	ENST00000455308	ensembl	human	known	70_37	rna	SNP	1.000	G
LOC644669	644669	genome.wustl.edu	37	18	15325663	15325663	+	RNA	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:15325663C>G	ENST00000455308.2	-	0	379					NR_027417.1																						TACACACCTACAATATTTGGA	0.403																																																	0																																												644669																															18.37:g.15325663C>G				RNA	SNP	-	NULL	ENST00000455308.2	37	NULL		18																																																																																			AP005901.1	-	-		0.403	AP005901.1-001	KNOWN	basic	processed_transcript	LOC644669	Clone_based_vega_gene	pseudogene	OTTHUMT00000373635.1	C			15325663	-1	no_errors	ENST00000455308	ensembl	human	known	70_37	rna	SNP	0.914	G
LRRC23	10233	genome.wustl.edu	37	12	7019143	7019143	+	Silent	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:7019143G>C	ENST00000007969.8	+	6	931	c.711G>C	c.(709-711)ctG>ctC	p.L237L	LRRC23_ENST00000443597.2_Silent_p.L237L|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Silent_p.L237L	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	237										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TTGACACCCTGAGTGGCTTCT	0.537																																																	0													157.0	134.0	142.0					12																	7019143		2203	4300	6503	SO:0001819	synonymous_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.711G>C	12.37:g.7019143G>C			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	pfam_Leu-rich_rpt	p.L237	ENST00000007969.8	37	c.711	CCDS8569.1	12																																																																																			LRRC23	-	NULL		0.537	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7019143	+1	no_errors	ENST00000007969	ensembl	human	known	70_37	silent	SNP	1.000	C
LRRCC1	85444	genome.wustl.edu	37	8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:86049720G>A	ENST00000360375.3	+	15	2500	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R764H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333																																																	0													76.0	74.0	75.0					8																	86049720		1813	4073	5886	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2351G>A	8.37:g.86049720G>A	ENSP00000353538:p.Arg784His		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.R784H	ENST00000360375.3	37	c.2351	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812762	0.50527	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.48522	0.81;0.82	5.89	1.9	0.25705	.	0.394312	0.18851	N	0.129413	T	0.31734	0.0806	L	0.37850	1.14	0.51767	D	0.99993	B;B;B;P	0.42757	0.078;0.066;0.131;0.789	B;B;B;B	0.32289	0.029;0.017;0.029;0.143	T	0.11891	-1.0569	10	0.66056	D	0.02	-0.9894	10.7016	0.45931	0.2746:0.0:0.7254:0.0	.	691;764;691;784	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	H	784;764	ENSP00000353538:R784H;ENSP00000394695:R764H	ENSP00000353538:R784H	R	+	2	0	LRRCC1	86236972	1.000000	0.71417	0.349000	0.25694	0.752000	0.42762	2.639000	0.46570	0.339000	0.23719	-0.157000	0.13467	CGT	LRRCC1	-	NULL		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	G	NM_033402		86049720	+1	no_errors	ENST00000360375	ensembl	human	known	70_37	missense	SNP	1.000	A
LSM14B	149986	genome.wustl.edu	37	20	60697842	60697842	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:60697842C>T	ENST00000279068.6	+	1	280	c.120C>T	c.(118-120)ctC>ctT	p.L40L	LSM14B_ENST00000253001.4_Silent_p.L40L|LSM14B_ENST00000370915.1_Silent_p.L40L	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	40					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGTGGCGCTCGCCAAAGGTA	0.716																																																	0													47.0	49.0	48.0					20																	60697842		2203	4299	6502	SO:0001819	synonymous_variant	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.120C>T	20.37:g.60697842C>T			Q6PFW8|Q96LH8	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.L40	ENST00000279068.6	37	c.120	CCDS46626.1	20																																																																																			LSM14B	-	superfamily_LSM_dom		0.716	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	C	NM_144703		60697842	+1	no_errors	ENST00000253001	ensembl	human	known	70_37	silent	SNP	0.998	T
MADD	8567	genome.wustl.edu	37	11	47297739	47297739	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:47297739C>T	ENST00000311027.5	+	4	1114	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	MADD_ENST00000407859.3_Silent_p.L317L|MADD_ENST00000349238.3_Silent_p.L317L|MADD_ENST00000395344.3_Silent_p.L317L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Silent_p.L317L|MADD_ENST00000395336.3_Silent_p.L317L|MADD_ENST00000342922.4_Silent_p.L317L|MADD_ENST00000402192.2_Silent_p.L317L|MADD_ENST00000402799.1_Silent_p.L317L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACCTGCATTCTGTTAGAGCA	0.517																																																	0													64.0	58.0	60.0					11																	47297739		2201	4298	6499	SO:0001819	synonymous_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.949C>T	11.37:g.47297739C>T				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L317	ENST00000311027.5	37	c.949	CCDS7930.1	11																																																																																			MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.517	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	C			47297739	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	silent	SNP	1.000	T
MAGEB1	4112	genome.wustl.edu	37	X	30269126	30269126	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:30269126C>T	ENST00000378981.3	+	4	837	c.516C>T	c.(514-516)ggC>ggT	p.G172G	MAGEB1_ENST00000397550.1_Silent_p.G172G|MAGEB1_ENST00000397548.2_Silent_p.G172G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	172	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.			G -> S (in Ref. 1; CAA57889). {ECO:0000305}.						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACCCTAGTGGCCACACCTACA	0.502																																																	0													81.0	61.0	68.0					X																	30269126		2202	4300	6502	SO:0001819	synonymous_variant	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.516C>T	X.37:g.30269126C>T			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G172	ENST00000378981.3	37	c.516	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	C	NM_002363		30269126	+1	no_errors	ENST00000378981	ensembl	human	known	70_37	silent	SNP	0.000	T
MAP3K12	7786	genome.wustl.edu	37	12	53875770	53875770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:53875770delT	ENST00000267079.2	-	14	2661	c.2436delA	c.(2434-2436)gaafs	p.E812fs	MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.E845fs|MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.E845fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	812					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGAGCTGGGTTCAGGGCCAG	0.557											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	79.0	80.0					12																	53875770		2203	4300	6503	SO:0001589	frameshift_variant	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2436delA	12.37:g.53875770delT	ENSP00000267079:p.Glu812fs	996	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E812fs	ENST00000267079.2	37	c.2436	CCDS8860.1	12																																																																																			MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.557	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	T	NM_006301		53875770	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	frame_shift_del	DEL	0.726	-
MAP3K12	7786	genome.wustl.edu	37	12	53875771	53875771	+	Missense_Mutation	SNP	T	T	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:53875771T>G	ENST00000267079.2	-	14	2660	c.2435A>C	c.(2434-2436)gAa>gCa	p.E812A	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E845A|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E845A	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	812					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGCTGGGTTCAGGGCCAGG	0.557											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84.0	79.0	81.0					12																	53875771		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2435A>C	12.37:g.53875771T>G	ENSP00000267079:p.Glu812Ala	996	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E812A	ENST00000267079.2	37	c.2435	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	T	6.269	0.417658	0.11870	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.56776	0.44;0.44;0.44	3.98	1.57	0.23409	.	0.301827	0.24056	N	0.041942	T	0.21631	0.0521	N	0.02011	-0.69	0.36327	D	0.858618	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05937	-1.0855	10	0.87932	D	0	.	4.3393	0.11101	0.2008:0.0:0.2088:0.5904	.	845;812	G3V1Y2;Q12852	.;M3K12_HUMAN	A	812;845;845	ENSP00000267079:E812A;ENSP00000449038:E845A;ENSP00000448689:E845A	ENSP00000267079:E812A	E	-	2	0	MAP3K12	52162038	0.999000	0.42202	0.549000	0.28204	0.043000	0.13939	0.371000	0.20450	0.333000	0.23563	0.402000	0.26972	GAA	MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.557	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	T	NM_006301		53875771	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	missense	SNP	0.722	G
MAP3K9	4293	genome.wustl.edu	37	14	71215635	71215635	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:71215635C>G	ENST00000554752.2	-	5	1236	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.E107Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E413Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E150Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E413Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	413					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGGCATTTCAAAGAAACCA	0.473																																					GBM(114;411 1587 13539 28235 50070)												0													143.0	129.0	134.0					14																	71215635		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1237G>C	14.37:g.71215635C>G	ENSP00000451612:p.Glu413Gln		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E413Q	ENST00000554752.2	37	c.1237		14	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015359	0.54468	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.75050	-0.87;-0.88;-0.9;-0.89	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.046932	0.85682	D	0.000000	T	0.66858	0.2832	L	0.29908	0.895	0.53005	D	0.999968	B;B;B;B	0.28026	0.198;0.125;0.198;0.198	B;B;B;B	0.33799	0.17;0.05;0.108;0.108	T	0.61078	-0.7135	10	0.12766	T	0.61	.	19.4627	0.94924	0.0:1.0:0.0:0.0	.	150;413;413;107	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	413;413;107;413;150;141	ENSP00000451612:E413Q;ENSP00000451038:E107Q;ENSP00000370649:E413Q;ENSP00000451921:E150Q	ENSP00000005198:E413Q	E	-	1	0	MAP3K9	70285388	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	2.675000	0.91044	0.650000	0.86243	GAA	MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom		0.473	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71215635	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	G
MAPK1	5594	genome.wustl.edu	37	22	22127167	22127167	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:22127167C>T	ENST00000215832.6	-	7	1149	c.961G>A	c.(961-963)Gac>Aac	p.D321N	MAPK1_ENST00000398822.3_Missense_Mutation_p.D321N|MAPK1_ENST00000544786.1_Missense_Mutation_p.D277N	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	321					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D321N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CTTACCTCGTCACTCGGGTCG	0.478																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											168.0	134.0	146.0					22																	22127167		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.961G>A	22.37:g.22127167C>T	ENSP00000215832:p.Asp321Asn		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.D321N	ENST00000215832.6	37	c.961	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.464153	0.96257	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.44881	0.91;0.91;0.91	5.06	5.06	0.68205	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.982;0.985	T	0.82392	-0.0480	10	0.87932	D	0	2.7449	18.977	0.92742	0.0:1.0:0.0:0.0	.	277;321	A8CZ64;P28482	.;MK01_HUMAN	N	321;309;321;277	ENSP00000215832:D321N;ENSP00000381803:D321N;ENSP00000440842:D277N	ENSP00000215832:D321N	D	-	1	0	MAPK1	20457167	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.564000	0.82326	2.782000	0.95742	0.655000	0.94253	GAC	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127167	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T
MARK1	4139	genome.wustl.edu	37	1	220826469	220826469	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:220826469C>T	ENST00000366917.4	+	16	2029	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	MARK1_ENST00000402574.1_Missense_Mutation_p.S453F|MARK1_ENST00000366918.4_Missense_Mutation_p.S566F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCTGCTGCTTCCCCATCTGCT	0.478																																																	0													81.0	68.0	72.0					1																	220826469		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1763C>T	1.37:g.220826469C>T	ENSP00000355884:p.Ser588Phe			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S588F	ENST00000366917.4	37	c.1763	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009594	0.93346	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.74526	-0.77;-0.57;-0.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.83223	2.63	0.80722	D	1	D;B;B;D	0.62365	0.966;0.037;0.011;0.991	P;B;B;D	0.65684	0.781;0.046;0.004;0.937	D	0.87651	0.2528	10	0.48119	T	0.1	.	17.8463	0.88731	0.0:1.0:0.0:0.0	.	588;453;588;566	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	F	453;566;588	ENSP00000386017:S453F;ENSP00000355885:S566F;ENSP00000355884:S588F	ENSP00000355884:S588F	S	+	2	0	MARK1	218893092	1.000000	0.71417	0.598000	0.28837	0.997000	0.91878	7.372000	0.79612	2.267000	0.75376	0.462000	0.41574	TCC	MARK1	-	NULL		0.478	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	C			220826469	+1	no_errors	ENST00000366917	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12958773	12958773	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:12958773G>C	ENST00000251472.4	+	7	715	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E222Q	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGATCATCGAGCTGGCCCG	0.592																																																	0													62.0	48.0	53.0					19																	12958773		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.676G>C	19.37:g.12958773G>C	ENSP00000251472:p.Glu226Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E226Q	ENST00000251472.4	37	c.676	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971473	0.92919	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.49432	0.78	5.02	3.97	0.46021	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.063986	0.64402	D	0.000013	T	0.71863	0.3390	M	0.88842	2.985	0.49915	D	0.999832	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.77859	-0.2431	10	0.87932	D	0	-14.4457	12.8393	0.57793	0.0:0.0:0.835:0.165	.	226;226	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	Q	226	ENSP00000251472:E226Q	ENSP00000251472:E226Q	E	+	1	0	MAST1	12819773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	1.239000	0.43787	0.491000	0.48974	GAG	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12958773	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	C
MCHR2	84539	genome.wustl.edu	37	6	100403985	100403985	+	Silent	SNP	G	G	A	rs374330201		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:100403985G>A	ENST00000281806.2	-	2	353	c.39C>T	c.(37-39)gcC>gcT	p.A13A	MCHR2_ENST00000369212.2_Silent_p.A13A	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTAAAAGTTCGGCAGAGGTGT	0.388																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	144.0	145.0	145.0		39,39	-1.0	0.6	6		145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCHR2	NM_001040179.1,NM_032503.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	13/341,13/341	100403985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.39C>T	6.37:g.100403985G>A			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.A13	ENST00000281806.2	37	c.39	CCDS5044.1	6																																																																																			MCHR2	-	prints_MCH2_receptor		0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100403985	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	silent	SNP	0.202	A
ME2	4200	genome.wustl.edu	37	18	48442582	48442582	+	Missense_Mutation	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:48442582T>C	ENST00000321341.5	+	5	709	c.437T>C	c.(436-438)aTt>aCt	p.I146T	ME2_ENST00000382927.3_Missense_Mutation_p.I146T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	146					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTTAGATCAATTGTGGATAAC	0.348																																																	0													188.0	181.0	183.0					18																	48442582		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.437T>C	18.37:g.48442582T>C	ENSP00000321070:p.Ile146Thr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.I146T	ENST00000321341.5	37	c.437	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770743	0.69992	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.64997	1.995	0.53688	D	0.999977	D;D	0.64830	0.993;0.994	D;D	0.72075	0.967;0.976	T	0.65063	-0.6259	10	0.87932	D	0	-24.5504	15.1301	0.72517	0.0:0.0:0.0:1.0	.	146;146	Q9BWL6;P23368	.;MAOM_HUMAN	T	146	ENSP00000321070:I146T;ENSP00000372384:I146T	ENSP00000321070:I146T	I	+	2	0	ME2	46696580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.215000	0.77966	2.213000	0.71641	0.528000	0.53228	ATT	ME2	-	pfam_Malic_N		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	T	NM_002396		48442582	+1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	C
MED16	10025	genome.wustl.edu	37	19	879963	879963	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:879963G>A	ENST00000589119.1	-	7	1326	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.L443L|MED16_ENST00000395808.3_Silent_p.L443L|MED16_ENST00000325464.1_Silent_p.L443L|MED16_ENST00000312090.6_Silent_p.L443L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	443					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCACCAGGGCCAGTGAC	0.687																																																	0													15.0	13.0	13.0					19																	879963		2162	4264	6426	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1327C>T	19.37:g.879963G>A			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L443	ENST00000589119.1	37	c.1327	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.687	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		879963	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	1.000	A
MEIS1	4211	genome.wustl.edu	37	2	66794708	66794708	+	Intron	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:66794708G>T	ENST00000272369.9	+	10	1481				MEIS1_ENST00000488550.1_Intron|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000560281.2_Silent_p.P363P|MEIS1_ENST00000495021.2_Intron|MEIS1_ENST00000398506.2_Intron|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000407092.2_Intron	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1						angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCCATTCACCGGGAGGTCCGC	0.453																																																	0													49.0	44.0	45.0					2																	66794708		692	1591	2283	SO:0001627	intron_variant	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.1024+65G>T	2.37:g.66794708G>T			A8MV50	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P363	ENST00000272369.9	37	c.1089	CCDS46309.1	2																																																																																			MEIS1	-	NULL		0.453	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	G	NM_002398		66794708	+1	no_errors	ENST00000560281	ensembl	human	putative	70_37	silent	SNP	1.000	T
MT-ND2	4536	genome.wustl.edu	37	M	1750	1750	+	5'Flank	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrM:1750G>T	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TAAAGTATAGGCGATAGAAAT	0.408																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1750G>T	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.408	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		1750	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	T
MT-CO1	4512	genome.wustl.edu	37	M	2909	2909	+	5'Flank	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrM:2909G>A	ENST00000361624.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATCCAATAACTTGACCAACGG	0.468																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2909G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MIR4485	-	-		0.468	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024028		2909	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
MMP24	10893	genome.wustl.edu	37	20	33862108	33862108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:33862108delG	ENST00000246186.6	+	9	1719	c.1634delG	c.(1633-1635)tggfs	p.W545fs	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	545					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CGGGACTACTGGAAGTTTGAC	0.572																																																	0													93.0	108.0	103.0					20																	33862108		2055	4211	6266	SO:0001589	frameshift_variant	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1634delG	20.37:g.33862108delG	ENSP00000246186:p.Trp545fs		B7ZBG8|Q9H440	Frame_Shift_Del	DEL	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.W545fs	ENST00000246186.6	37	c.1634	CCDS46593.1	20																																																																																			MMP24	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.572	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	G	NM_006690		33862108	+1	no_errors	ENST00000246186	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MRGPRD	116512	genome.wustl.edu	37	11	68747955	68747955	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:68747955G>C	ENST00000309106.3	-	1	500	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	167						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAATTTCAAGAACTTGCTGC	0.572																																																	0													63.0	53.0	56.0					11																	68747955		2200	4294	6494	SO:0001583	missense	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.501C>G	11.37:g.68747955G>C	ENSP00000310631:p.Phe167Leu		Q8NGK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F167L	ENST00000309106.3	37	c.501	CCDS31625.1	11	.	.	.	.	.	.	.	.	.	.	G	8.338	0.827980	0.16749	.	.	ENSG00000172938	ENST00000309106	T	0.71341	-0.56	4.08	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	1.017260	0.07912	U	0.974381	T	0.41328	0.1154	N	0.04373	-0.215	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.35748	-0.9776	10	0.05959	T	0.93	-2.5028	3.2942	0.06960	0.236:0.0:0.5601:0.2039	.	167	Q8TDS7	MRGRD_HUMAN	L	167	ENSP00000310631:F167L	ENSP00000310631:F167L	F	-	3	2	MRGPRD	68504531	0.748000	0.28294	0.000000	0.03702	0.025000	0.11179	1.664000	0.37439	0.244000	0.21351	0.305000	0.20034	TTC	MRGPRD	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRD	HGNC	protein_coding	OTTHUMT00000396874.1	G	NM_198923		68747955	-1	no_errors	ENST00000309106	ensembl	human	known	70_37	missense	SNP	0.000	C
MRPL20	55052	genome.wustl.edu	37	1	1337574	1337574	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:1337574G>A	ENST00000344843.7	-	4	434	c.339C>T	c.(337-339)ttC>ttT	p.F113F	MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	113					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAAAGATTTGAAAGTCTTTG	0.512																																																	0													99.0	93.0	95.0					1																	1337574		2203	4296	6499	SO:0001819	synonymous_variant	55052			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.339C>T	1.37:g.1337574G>A			B2RE41|B7Z746	Silent	SNP	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	p.F113	ENST00000344843.7	37	c.339	CCDS26.1	1																																																																																			MRPL20	-	pfam_Ribosomal_L20,tigrfam_Ribosomal_L20		0.512	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL20	HGNC	protein_coding	OTTHUMT00000008139.1	G	NM_017971		1337574	-1	no_errors	ENST00000344843	ensembl	human	known	70_37	silent	SNP	1.000	A
MS4A14	84689	genome.wustl.edu	37	11	60183299	60183299	+	Silent	SNP	T	T	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:60183299T>A	ENST00000300187.6	+	5	1135	c.858T>A	c.(856-858)ccT>ccA	p.P286P	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Silent_p.P174P|MS4A14_ENST00000531783.1_Silent_p.P319P|MS4A14_ENST00000395005.2_Silent_p.P269P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	286						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTGTACAACCTTCTCAAATGC	0.398																																																	0													58.0	55.0	56.0					11																	60183299		2203	4300	6503	SO:0001819	synonymous_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.858T>A	11.37:g.60183299T>A			E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	pfam_CD20-like	p.P286	ENST00000300187.6	37	c.858	CCDS31569.1	11																																																																																			MS4A14	-	NULL		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	T			60183299	+1	no_errors	ENST00000300187	ensembl	human	known	70_37	silent	SNP	0.000	A
MSH2	4436	genome.wustl.edu	37	2	47703697	47703697	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:47703697G>A	ENST00000233146.2	+	13	2420	c.2197G>A	c.(2197-2199)Gct>Act	p.A733T	MSH2_ENST00000543555.1_Missense_Mutation_p.A667T|MSH2_ENST00000406134.1_Missense_Mutation_p.A733T	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	733					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGGAAACTGCTTCTATCCT	0.443			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)											139.0	125.0	130.0					2																	47703697		2203	4300	6503	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2197G>A	2.37:g.47703697G>A	ENSP00000233146:p.Ala733Thr		B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.A733T	ENST00000233146.2	37	c.2197	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433187	0.83776	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.87809	-2.3;-2.3;-2.3	6.17	5.28	0.74379	DNA mismatch repair protein MutS, C-terminal (2);	0.045357	0.85682	D	0.000000	D	0.94032	0.8088	M	0.88450	2.955	0.80722	D	1	D;D;D	0.65815	0.99;0.995;0.985	D;D;D	0.67900	0.917;0.94;0.954	D	0.94999	0.8141	10	0.87932	D	0	-16.6639	15.1801	0.72947	0.0:0.0:0.7434:0.2566	.	667;733;733	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	T	733;667;733;733;519	ENSP00000233146:A733T;ENSP00000442697:A667T;ENSP00000384199:A733T	ENSP00000233146:A733T	A	+	1	0	MSH2	47557201	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.300000	0.72776	1.583000	0.49898	0.655000	0.94253	GCT	MSH2	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2		0.443	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	G			47703697	+1	no_errors	ENST00000233146	ensembl	human	known	70_37	missense	SNP	0.998	A
MT-CO1	4512	genome.wustl.edu	37	M	6474	6474	+	Missense_Mutation	SNP	A	A	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrM:6474A>G	ENST00000361624.2	+	1	571	c.571A>G	c.(571-573)Aca>Gca	p.T191A	MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	191					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCGTCCTAATCACAGCAGTCC	0.488																																																	0																																										SO:0001583	missense	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.571A>G	M.37:g.6474A>G	ENSP00000354499:p.Thr191Ala		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.T191A	ENST00000361624.2	37	c.571		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.488	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		A	YP_003024028		6474	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	missense	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	7220	7220	+	Silent	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrM:7220T>C	ENST00000361624.2	+	1	1317	c.1317T>C	c.(1315-1317)cgT>cgC	p.R439R	MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	439					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATGCCCCGACGTTACTCGGAC	0.413																																																	0																																										SO:0001819	synonymous_variant	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1317T>C	M.37:g.7220T>C			Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.R439	ENST00000361624.2	37	c.1317		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.413	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		T	YP_003024028		7220	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	silent	SNP	NULL	C
MT-ATP6	4508	genome.wustl.edu	37	M	9144	9144	+	Silent	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrM:9144C>A	ENST00000361899.2	+	1	618	c.618C>A	c.(616-618)gtC>gtA	p.V206V	MT-ND4_ENST00000361381.2_5'Flank|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	206					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						GAAATCGCTGTCGCCTTAATC	0.413																																																	0																																										SO:0001819	synonymous_variant	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.618C>A	M.37:g.9144C>A			Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.V206	ENST00000361899.2	37	c.618		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.413	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		C	YP_003024031		9144	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	silent	SNP	NULL	A
MTOR	2475	genome.wustl.edu	37	1	11182063	11182063	+	Silent	SNP	G	G	C	rs55951261	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:11182063G>C	ENST00000361445.4	-	48	6859	c.6783C>G	c.(6781-6783)ctC>ctG	p.L2261L	MTOR_ENST00000376838.1_Silent_p.L466L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2261	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCTCGATGTTGAGAAGGATCT	0.562																																																	0													144.0	121.0	129.0					1																	11182063		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6783C>G	1.37:g.11182063G>C			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2261	ENST00000361445.4	37	c.6783	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.562	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11182063	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	C
MYBBP1A	10514	genome.wustl.edu	37	17	4443660	4443660	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:4443660C>T	ENST00000254718.4	-	25	3723	c.3417G>A	c.(3415-3417)atG>atA	p.M1139I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.M1139I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1139					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CCAGGGTTTTCATGGCCTGCC	0.647																																																	0													77.0	72.0	74.0					17																	4443660		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3417G>A	17.37:g.4443660C>T	ENSP00000254718:p.Met1139Ile		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.M1139I	ENST00000254718.4	37	c.3417	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699290	0.88830	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.20598	2.06;2.06	4.73	4.73	0.59995	.	0.174679	0.64402	D	0.000013	T	0.24314	0.0589	L	0.36672	1.1	0.43750	D	0.996253	P;D	0.53745	0.936;0.962	B;P	0.49829	0.418;0.623	T	0.00484	-1.1712	10	0.41790	T	0.15	-49.4231	13.3986	0.60870	0.0:1.0:0.0:0.0	.	1139;1139	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	I	1139	ENSP00000370968:M1139I;ENSP00000254718:M1139I	ENSP00000254718:M1139I	M	-	3	0	MYBBP1A	4390409	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.701000	0.61810	2.615000	0.88500	0.555000	0.69702	ATG	MYBBP1A	-	NULL		0.647	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	C	NM_014520		4443660	-1	no_errors	ENST00000381556	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8408154	8408154	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:8408154C>T	ENST00000269243.4	-	26	3502	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1143K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1153K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1138K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1122					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGAAGTTCAGCAATTTGG	0.468																																																	0													199.0	189.0	192.0					17																	8408154		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3364G>A	17.37:g.8408154C>T	ENSP00000269243:p.Glu1122Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1143K	ENST00000269243.4	37	c.3427	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775734	0.70107	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	H	0.95079	3.62	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.68039	0.955;0.925;0.955	D	0.96747	0.9551	10	0.87932	D	0	.	18.2878	0.90120	0.0:1.0:0.0:0.0	.	1131;1153;1122	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1122;1153;1143;1138	ENSP00000269243:E1122K;ENSP00000353590:E1153K;ENSP00000379539:E1143K;ENSP00000369315:E1138K	ENSP00000269243:E1122K	E	-	1	0	MYH10	8348879	1.000000	0.71417	0.061000	0.19648	0.050000	0.14768	7.609000	0.82925	2.551000	0.86045	0.563000	0.77884	GAA	MYH10	-	pfam_Myosin_tail		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8408154	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	T
NAB2	4665	genome.wustl.edu	37	12	57485779	57485779	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:57485779G>A	ENST00000300131.3	+	2	1333	c.955G>A	c.(955-957)Gag>Aag	p.E319K	NAB2_ENST00000357680.4_Missense_Mutation_p.E319K|NAB2_ENST00000342556.6_Missense_Mutation_p.E319K	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	319	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGCCTGCACGAGGTGAGAAC	0.537																																																	0													39.0	43.0	41.0					12																	57485779		2203	4300	6503	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.955G>A	12.37:g.57485779G>A	ENSP00000300131:p.Glu319Lys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.E319K	ENST00000300131.3	37	c.955	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.216570	0.95104	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.97	4.97	0.65823	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.76047	0.3933	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78811	-0.2057	9	0.87932	D	0	-19.7418	15.7293	0.77790	0.0:0.0:1.0:0.0	.	319	Q15742	NAB2_HUMAN	K	319	.	ENSP00000300131:E319K	E	+	1	0	NAB2	55772046	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.756000	0.98918	2.296000	0.77279	0.561000	0.74099	GAG	NAB2	-	pfam_NAB_co-repressor_dom		0.537	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57485779	+1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A
NCOA6	23054	genome.wustl.edu	37	20	33342596	33342596	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:33342596G>A	ENST00000374796.2	-	9	4174	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S535L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	535	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGTGGTCGAAGGCACCTG	0.498																																																	0													118.0	109.0	112.0					20																	33342596		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1604C>T	20.37:g.33342596G>A	ENSP00000363929:p.Ser535Leu		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.S535L	ENST00000374796.2	37	c.1604	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303058	0.81136	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26373	1.74;1.74	5.97	5.97	0.96955	.	0.089845	0.48767	D	0.000167	T	0.18130	0.0435	N	0.24115	0.695	0.38222	D	0.94078	D	0.58970	0.984	B	0.33960	0.173	T	0.06625	-1.0816	10	0.56958	D	0.05	-5.2121	20.4135	0.99023	0.0:0.0:1.0:0.0	.	535	Q14686	NCOA6_HUMAN	L	535	ENSP00000363929:S535L;ENSP00000351894:S535L	ENSP00000351894:S535L	S	-	2	0	NCOA6	32806257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.094000	0.57721	2.835000	0.97688	0.591000	0.81541	TCG	NCOA6	-	NULL		0.498	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	G	NM_014071		33342596	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	0.998	A
NFE2	4778	genome.wustl.edu	37	12	54686942	54686942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:54686942G>C	ENST00000540264.2	-	2	847	c.338C>G	c.(337-339)tCa>tGa	p.S113*	NFE2_ENST00000553070.1_Nonsense_Mutation_p.S113*|NFE2_ENST00000435572.2_Nonsense_Mutation_p.S113*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.S113*|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	113	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.S113*(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGCAGGCCTGAGAGGCTCAG	0.592																																																	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|breast(1)											110.0	116.0	114.0					12																	54686942		2203	4300	6503	SO:0001587	stop_gained	4778			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.338C>G	12.37:g.54686942G>C	ENSP00000439120:p.Ser113*		Q07720|Q6ICV9	Nonsense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S113*	ENST00000540264.2	37	c.338	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.803338	0.98498	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.706306	0.13462	N	0.386064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3998	11.3174	0.49401	0.0:0.0:0.8186:0.1814	.	.	.	.	X	113	.	ENSP00000312436:S113X	S	-	2	0	NFE2	52973209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.938000	0.56583	2.824000	0.97209	0.655000	0.94253	TCA	NFE2	-	NULL		0.592	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	G	NM_006163		54686942	-1	no_errors	ENST00000312156	ensembl	human	known	70_37	nonsense	SNP	1.000	C
NFIB	4781	genome.wustl.edu	37	9	14116247	14116247	+	Intron	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:14116247C>T	ENST00000380959.3	-	8	1719				NFIB_ENST00000380924.1_Intron|NFIB_ENST00000543693.1_Silent_p.L196L|NFIB_ENST00000397581.2_Silent_p.L448L|NFIB_ENST00000380934.4_Intron|NFIB_ENST00000380953.1_Silent_p.L448L|NFIB_ENST00000397575.3_Silent_p.L448L|NFIB_ENST00000397579.2_Intron	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTGTCATGCTCAGGGTCACAG	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0																																										SO:0001627	intron_variant	4781			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1245+4191G>A	9.37:g.14116247C>T			G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L448	ENST00000380959.3	37	c.1344	CCDS6474.1	9																																																																																			NFIB	-	pfam_CTF/NFI		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	C	NM_005596		14116247	-1	no_errors	ENST00000397581	ensembl	human	known	70_37	silent	SNP	1.000	T
NOP9	161424	genome.wustl.edu	37	14	24769346	24769346	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:24769346G>A	ENST00000267425.3	+	1	279	c.186G>A	c.(184-186)ctG>ctA	p.L62L	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Silent_p.L62L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	62							poly(A) RNA binding (GO:0044822)										CGGAAGCTCTGGGATATTTCC	0.637																																																	0													42.0	50.0	47.0					14																	24769346		2156	4261	6417	SO:0001819	synonymous_variant	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.186G>A	14.37:g.24769346G>A			A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.L62	ENST00000267425.3	37	c.186	CCDS9624.1	14																																																																																			NOP9	-	NULL		0.637	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	G			24769346	+1	no_errors	ENST00000267425	ensembl	human	known	70_37	silent	SNP	0.942	A
NOS2	4843	genome.wustl.edu	37	17	26100236	26100236	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:26100236C>T	ENST00000313735.6	-	13	1743	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	504					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTCCGCTTCTCGTCCTGCCAG	0.542																																																	0													291.0	257.0	269.0					17																	26100236		2203	4300	6503	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1510G>A	17.37:g.26100236C>T	ENSP00000327251:p.Glu504Lys		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E504K	ENST00000313735.6	37	c.1510	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	6.654	0.489089	0.12641	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01665	4.7	5.41	2.29	0.28610	.	0.469877	0.20837	N	0.084777	T	0.02119	0.0066	M	0.62723	1.935	0.31781	N	0.63094	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.34403	-0.9830	10	0.09338	T	0.73	.	7.7127	0.28688	0.0:0.714:0.1347:0.1512	.	504;504	F8WEM3;P35228	.;NOS2_HUMAN	K	504;465;504	ENSP00000327251:E504K	ENSP00000305638:E504K	E	-	1	0	NOS2	23124363	0.926000	0.31397	0.005000	0.12908	0.658000	0.38924	1.818000	0.39012	0.247000	0.21414	-0.254000	0.11334	GAG	NOS2	-	pirsf_NOS_met		0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	C	NM_000625		26100236	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	missense	SNP	0.659	T
NTM	50863	genome.wustl.edu	37	11	132081971	132081971	+	Silent	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:132081971T>C	ENST00000374786.1	+	3	935	c.456T>C	c.(454-456)aaT>aaC	p.N152N	NTM_ENST00000425719.2_Silent_p.N152N|NTM_ENST00000427481.2_Silent_p.N143N|NTM_ENST00000374784.1_Silent_p.N152N|NTM_ENST00000374791.3_Silent_p.N152N|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.N152N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	152	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AAGGGAACAATATTAGCCTCA	0.393																																																	0													115.0	113.0	113.0					11																	132081971		2201	4297	6498	SO:0001819	synonymous_variant	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.456T>C	11.37:g.132081971T>C			A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N152	ENST00000374786.1	37	c.456	CCDS8491.1	11																																																																																			NTM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	T	NM_016522		132081971	+1	no_errors	ENST00000539799	ensembl	human	known	70_37	silent	SNP	0.963	C
OR10G3	26533	genome.wustl.edu	37	14	22038145	22038145	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:22038145G>C	ENST00000303532.1	-	1	730	c.731C>G	c.(730-732)gCc>gGc	p.A244G		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTACATGGGCTCCACAAGT	0.572																																																	0													78.0	86.0	83.0					14																	22038145		2203	4300	6503	SO:0001583	missense	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.731C>G	14.37:g.22038145G>C	ENSP00000302437:p.Ala244Gly		Q6IET7|Q96R77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A244G	ENST00000303532.1	37	c.731	CCDS32046.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702848	0.88924	.	.	ENSG00000169208	ENST00000303532	T	0.37584	1.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000501	T	0.55065	0.1897	M	0.72894	2.215	0.43868	D	0.996475	P	0.49559	0.925	P	0.56648	0.803	T	0.59348	-0.7471	10	0.87932	D	0	-10.8838	16.3832	0.83489	0.0:0.0:1.0:0.0	.	244	Q8NGC4	O10G3_HUMAN	G	244	ENSP00000302437:A244G	ENSP00000302437:A244G	A	-	2	0	OR10G3	21107985	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.157000	0.94714	2.531000	0.85337	0.585000	0.79938	GCC	OR10G3	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	G			22038145	-1	no_errors	ENST00000303532	ensembl	human	known	70_37	missense	SNP	1.000	C
OR1J2	26740	genome.wustl.edu	37	9	125273828	125273828	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:125273828C>T	ENST00000335302.5	+	1	748	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGTGGTGTCTCTCTATTATGG	0.488																																																	0													233.0	196.0	209.0					9																	125273828		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.748C>T	9.37:g.125273828C>T	ENSP00000335575:p.Leu250Phe		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L250F	ENST00000335302.5	37	c.748	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814038	0.32053	.	.	ENSG00000197233	ENST00000335302	T	0.00293	8.26	4.37	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007930	T	0.00496	0.0016	M	0.84156	2.68	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.49194	-0.8965	10	0.87932	D	0	.	3.7404	0.08527	0.1701:0.3796:0.0:0.4502	.	250	Q8NGS2	OR1J2_HUMAN	F	250	ENSP00000335575:L250F	ENSP00000335575:L250F	L	+	1	0	OR1J2	124313649	0.000000	0.05858	0.130000	0.21974	0.351000	0.29236	-2.391000	0.01057	0.202000	0.20498	0.545000	0.68477	CTC	OR1J2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	C			125273828	+1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.015	T
OR2L3	391192	genome.wustl.edu	37	1	248224124	248224124	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:248224124C>T	ENST00000359959.3	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATTCTTCTCATCTTCTTGG	0.413																																																	0													295.0	285.0	288.0					1																	248224124		2203	4297	6500	SO:0001819	synonymous_variant	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.141C>T	1.37:g.248224124C>T			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L47	ENST00000359959.3	37	c.141	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	C	NM_001004687		248224124	+1	no_errors	ENST00000359959	ensembl	human	known	70_37	silent	SNP	0.003	T
OR52A1	23538	genome.wustl.edu	37	11	5173437	5173437	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:5173437G>A	ENST00000380367.1	-	2	580	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGACTGCGCTCAGATTTG	0.443																																																	0													78.0	74.0	75.0					11																	5173437		2201	4297	6498	SO:0001583	missense	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.163C>T	11.37:g.5173437G>A	ENSP00000369725:p.Arg55Cys		Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R55C	ENST00000380367.1	37	c.163	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	G	9.772	1.172992	0.21704	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03035	4.07;4.07	5.37	0.0203	0.14124	GPCR, rhodopsin-like superfamily (1);	1.082370	0.07134	N	0.846087	T	0.08358	0.0208	M	0.79693	2.465	0.09310	N	1	D	0.65815	0.995	P	0.48571	0.582	T	0.27806	-1.0063	10	0.66056	D	0.02	.	1.7069	0.02884	0.183:0.1127:0.3533:0.351	.	55	Q9UKL2	O52A1_HUMAN	C	55	ENSP00000369725:R55C;ENSP00000333684:R55C	ENSP00000333684:R55C	R	-	1	0	OR52A1	5130013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.283000	0.08433	0.097000	0.17492	-0.795000	0.03280	CGC	OR52A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	G	NM_012375		5173437	-1	no_errors	ENST00000328942	ensembl	human	known	70_37	missense	SNP	0.000	A
OR51J1	79470	genome.wustl.edu	37	11	5424118	5424118	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:5424118G>A	ENST00000332043.1	+	1	292	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron			Q9H342	O51J1_HUMAN	olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene)	98					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AATTAGTCTTGAAGCTTGTCT	0.468																																																	0																																										SO:0001583	missense	79470					11p15.4	2012-08-09	2008-06-12	2004-03-10	ENSG00000184321	ENSG00000184321		"""GPCR / Class A : Olfactory receptors"""	14856	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily J, member 1"""	OR51J2, OR51J1P			Standard	NG_002252		Approved			Q9H342	OTTHUMG00000066666	ENST00000332043.1:c.292G>A	11.37:g.5424118G>A	ENSP00000332473:p.Glu98Lys			Missense_Mutation	SNP	pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E98K	ENST00000332043.1	37	c.292		11	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270619	0.23221	.	.	ENSG00000184321	ENST00000332043	T	0.02974	4.09	5.38	2.46	0.29980	.	.	.	.	.	T	0.05731	0.0150	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	6	0.72032	D	0.01	.	10.2657	0.43453	0.2237:0.0:0.7763:0.0	.	.	.	.	K	98	ENSP00000332473:E98K	ENSP00000332473:E98K	E	+	1	0	OR51J1	5380694	0.000000	0.05858	0.565000	0.28409	0.063000	0.16089	0.283000	0.18846	0.844000	0.35094	0.655000	0.94253	GAA	OR51J1	-	pfscan_GPCR_Rhodpsn_7TM		0.468	OR51J1-001	KNOWN	basic|appris_principal	protein_coding	OR51J1	HGNC	protein_coding	OTTHUMT00000142957.1	G	NG_002252		5424118	+1	no_errors	ENST00000332043	ensembl	human	known	70_37	missense	SNP	0.007	A
OR52L1	338751	genome.wustl.edu	37	11	6007924	6007924	+	Silent	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:6007924G>C	ENST00000332249.4	-	1	291	c.237C>G	c.(235-237)ctC>ctG	p.L79L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACAGGAAGAGGTACATAG	0.537																																					Melanoma(121;653 1666 10547 22796 51255)												0													81.0	83.0	83.0					11																	6007924		2094	4238	6332	SO:0001819	synonymous_variant	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.237C>G	11.37:g.6007924G>C			B2RPA6|Q6IFK9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L79	ENST00000332249.4	37	c.237	CCDS44529.1	11																																																																																			OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	G	NM_001005173		6007924	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	silent	SNP	0.551	C
OR6B1	135946	genome.wustl.edu	37	7	143701561	143701561	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:143701561G>A	ENST00000408922.2	+	1	540	c.472G>A	c.(472-474)Gcg>Acg	p.A158T		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CATCTCCCTGGCGAAGATCTA	0.537																																																	0													85.0	85.0	85.0					7																	143701561		2118	4251	6369	SO:0001583	missense	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.472G>A	7.37:g.143701561G>A	ENSP00000386151:p.Ala158Thr		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A158T	ENST00000408922.2	37	c.472	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365026	0.41902	.	.	ENSG00000221813	ENST00000408922	T	0.37058	1.22	5.26	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.445102	0.16428	U	0.214877	T	0.21347	0.0514	N	0.05608	-0.01	0.26505	N	0.9747	B	0.12630	0.006	B	0.25987	0.065	T	0.18871	-1.0323	10	0.27082	T	0.32	.	11.7735	0.51972	0.0845:0.0:0.9155:0.0	.	158	O95007	OR6B1_HUMAN	T	158	ENSP00000386151:A158T	ENSP00000386151:A158T	A	+	1	0	OR6B1	143332494	0.000000	0.05858	0.978000	0.43139	0.908000	0.53690	0.437000	0.21543	1.457000	0.47850	0.655000	0.94253	GCG	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	G			143701561	+1	no_errors	ENST00000408922	ensembl	human	known	70_37	missense	SNP	0.583	A
OR7G1	125962	genome.wustl.edu	37	19	9226128	9226128	+	Silent	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:9226128G>C	ENST00000541538.1	-	1	311	c.312C>G	c.(310-312)gtC>gtG	p.V104V	OR7G1_ENST00000293614.1_Silent_p.V104V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAAAAACCAAGACAAGACAGA	0.483																																																	0													181.0	183.0	182.0					19																	9226128		2203	4300	6503	SO:0001819	synonymous_variant	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.312C>G	19.37:g.9226128G>C			Q6IFJ5|Q96RA1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V104	ENST00000541538.1	37	c.312	CCDS32898.2	19																																																																																			OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	G			9226128	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	silent	SNP	0.000	C
OR7E24	26648	genome.wustl.edu	37	19	9362120	9362120	+	Missense_Mutation	SNP	G	G	T	rs201058180		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:9362120G>T	ENST00000456448.1	+	1	515	c.401G>T	c.(400-402)aGt>aTt	p.S134I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGCTCCTGAGTGTGATGGCC	0.478																																																	0													124.0	128.0	127.0					19																	9362120		2199	4300	6499	SO:0001583	missense	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.401G>T	19.37:g.9362120G>T	ENSP00000387523:p.Ser134Ile		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S134I	ENST00000456448.1	37	c.401	CCDS45955.1	19	.	.	.	.	.	.	.	.	.	.	g	7.468	0.646156	0.14451	.	.	ENSG00000237521	ENST00000456448	T	0.00856	5.61	2.39	0.0262	0.14149	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00998	0.0033	L	0.28192	0.835	0.09310	N	1	B	0.33022	0.394	B	0.30401	0.115	T	0.48990	-0.8985	9	0.72032	D	0.01	.	12.2993	0.54866	0.0:0.8201:0.1799:0.0	.	134	Q6IFN5	O7E24_HUMAN	I	134	ENSP00000387523:S134I	ENSP00000387523:S134I	S	+	2	0	OR7E24	9223120	0.000000	0.05858	0.035000	0.18076	0.062000	0.15995	0.122000	0.15687	-0.035000	0.13691	-1.799000	0.00621	AGT	OR7E24	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1	G			9362120	+1	no_errors	ENST00000456448	ensembl	human	known	70_37	missense	SNP	0.042	T
OSBPL5	114879	genome.wustl.edu	37	11	3114255	3114255	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:3114255G>C	ENST00000263650.7	-	18	2133	c.1974C>G	c.(1972-1974)atC>atG	p.I658M	OSBPL5_ENST00000542243.1_Missense_Mutation_p.I289M|OSBPL5_ENST00000389989.3_Missense_Mutation_p.I590M|OSBPL5_ENST00000348039.5_Missense_Mutation_p.I590M|OSBPL5_ENST00000478260.1_Missense_Mutation_p.I112M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.I569M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	658					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGCCCTTGCTGATGGCCCTGG	0.687																																																	0													38.0	31.0	34.0					11																	3114255		2201	4296	6497	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1974C>G	11.37:g.3114255G>C	ENSP00000263650:p.Ile658Met		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I658M	ENST00000263650.7	37	c.1974	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426108	0.43020	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.38	3.47	0.39725	.	0.067090	0.64402	D	0.000020	T	0.47248	0.1435	M	0.64676	1.99	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.44345	-0.9334	10	0.87932	D	0	4.6685	6.6924	0.23181	0.0888:0.0:0.6309:0.2803	.	569;590;658	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	M	112;658;590;211;569;289;590;277	ENSP00000437141:I112M;ENSP00000263650:I658M;ENSP00000374639:I590M;ENSP00000431412:I211M;ENSP00000433342:I569M;ENSP00000441551:I289M;ENSP00000302872:I590M	ENSP00000263650:I658M	I	-	3	3	OSBPL5	3070831	0.986000	0.35501	0.783000	0.31826	0.326000	0.28443	1.933000	0.40153	1.069000	0.40788	0.561000	0.74099	ATC	OSBPL5	-	pfam_Oxysterol-bd		0.687	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	G			3114255	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.860	C
OR8U1	219417	genome.wustl.edu	37	11	56143163	56143163	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:56143163G>C	ENST00000302270.1	+	1	64	c.64G>C	c.(64-66)Gag>Cag	p.E22Q		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AGACCATCAGGAGTTGAAGAT	0.448																																																	0													178.0	160.0	165.0					11																	56143163		1909	4115	6024	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.64G>C	11.37:g.56143163G>C	ENSP00000304188:p.Glu22Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E22Q	ENST00000302270.1	37	c.64	CCDS41647.1	11	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359653	0.24598	.	.	ENSG00000172199	ENST00000302270	T	0.00444	7.4	5.87	4.0	0.46444	.	0.134840	0.33895	N	0.004457	T	0.00356	0.0011	L	0.37897	1.145	0.09310	N	1	P	0.45715	0.865	P	0.45428	0.48	T	0.54476	-0.8288	10	0.51188	T	0.08	.	6.0553	0.19809	0.2182:0.1406:0.6412:0.0	.	22	Q8NH10	OR8U1_HUMAN	Q	22	ENSP00000304188:E22Q	ENSP00000304188:E22Q	E	+	1	0	OR8U1	55899739	0.001000	0.12720	0.026000	0.17262	0.004000	0.04260	0.570000	0.23653	1.491000	0.48482	0.643000	0.83706	GAG	OR8U1	-	NULL		0.448	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8U1	HGNC	protein_coding	OTTHUMT00000391607.1	G	NM_001005204		56143163	+1	no_errors	ENST00000302270	ensembl	human	known	70_37	missense	SNP	0.041	C
OR8B12	219858	genome.wustl.edu	37	11	124413323	124413323	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:124413323G>C	ENST00000306842.2	-	1	252	c.228C>G	c.(226-228)atC>atG	p.I76M		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428																																																	0													83.0	81.0	82.0					11																	124413323		2201	4299	6500	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.228C>G	11.37:g.124413323G>C	ENSP00000307159:p.Ile76Met		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I76M	ENST00000306842.2	37	c.228	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006280	0.19199	.	.	ENSG00000170953	ENST00000306842	T	0.01145	5.27	3.77	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.107156	0.41605	D	0.000848	T	0.02807	0.0084	M	0.76170	2.325	0.09310	N	1	P	0.49358	0.923	P	0.52710	0.707	T	0.34403	-0.9830	10	0.87932	D	0	.	3.127	0.06411	0.3074:0.0:0.504:0.1886	.	76	Q8NGG6	OR8BC_HUMAN	M	76	ENSP00000307159:I76M	ENSP00000307159:I76M	I	-	3	3	OR8B12	123918533	0.000000	0.05858	0.852000	0.33557	0.366000	0.29705	-1.601000	0.02081	0.573000	0.29400	-0.157000	0.13467	ATC	OR8B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	G			124413323	-1	no_errors	ENST00000306842	ensembl	human	known	70_37	missense	SNP	0.005	C
PASD1	139135	genome.wustl.edu	37	X	150793972	150793972	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:150793972C>T	ENST00000370357.4	+	8	844	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	200						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACACAAGATTCAGATGAGGAA	0.323																																																	0													180.0	178.0	178.0					X																	150793972		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.599C>T	X.37:g.150793972C>T	ENSP00000359382:p.Ser200Leu		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.S200L	ENST00000370357.4	37	c.599	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751119	0.31046	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	4.44	0.876	0.19138	.	.	.	.	.	T	0.52175	0.1718	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.31686	0.134	T	0.45220	-0.9276	9	0.72032	D	0.01	-34.661	6.3013	0.21115	0.0:0.562:0.0:0.438	.	200	Q8IV76	PASD1_HUMAN	L	200	ENSP00000359382:S200L	ENSP00000359382:S200L	S	+	2	0	PASD1	150544628	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.129000	0.15830	0.077000	0.16863	0.509000	0.49947	TCA	PASD1	-	NULL		0.323	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	C	NM_173493		150793972	+1	no_errors	ENST00000370357	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDHA7	56141	genome.wustl.edu	37	5	140215233	140215233	+	Missense_Mutation	SNP	A	A	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140215233A>G	ENST00000525929.1	+	1	1265	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E422G|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCTATGAGCTGGTGGTT	0.627																																					NSCLC(160;258 2013 5070 22440 28951)												0													112.0	114.0	113.0					5																	140215233		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1265A>G	5.37:g.140215233A>G	ENSP00000436426:p.Glu422Gly		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E422G	ENST00000525929.1	37	c.1265	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	A	4.773	0.143758	0.09134	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01705	4.68;4.68	4.04	1.54	0.23209	Cadherin (5);Cadherin-like (1);	1.265730	0.06740	U	0.778219	T	0.03564	0.0102	M	0.70787	2.145	0.09310	N	1	B;B	0.16166	0.013;0.016	B;B	0.32928	0.026;0.155	T	0.49504	-0.8933	10	0.44086	T	0.13	.	2.2396	0.04017	0.5963:0.1607:0.0884:0.1546	.	422;422	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	G	422	ENSP00000436426:E422G;ENSP00000367365:E422G	ENSP00000367365:E422G	E	+	2	0	PCDHA7	140195417	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.934000	0.28910	0.092000	0.17331	0.254000	0.18369	GAG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	A	NM_018910		140215233	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.008	G
PCDHA7	56141	genome.wustl.edu	37	5	140215534	140215534	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140215534G>A	ENST00000525929.1	+	1	1566	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P522P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682																																					NSCLC(160;258 2013 5070 22440 28951)												0													77.0	84.0	81.0					5																	140215534		2200	4290	6490	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1566G>A	5.37:g.140215534G>A			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P522	ENST00000525929.1	37	c.1566	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	G	NM_018910		140215534	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	silent	SNP	0.132	A
PCDHB11	56125	genome.wustl.edu	37	5	140579541	140579541	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:140579541G>T	ENST00000354757.3	+	1	194	c.194G>T	c.(193-195)cGg>cTg	p.R65L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGGGGCTCGGGTGGTCTCT	0.517																																																	0													90.0	102.0	98.0					5																	140579541		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.194G>T	5.37:g.140579541G>T	ENSP00000346802:p.Arg65Leu		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R65L	ENST00000354757.3	37	c.194	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	g	16.01	3.000418	0.54147	.	.	ENSG00000197479	ENST00000354757	T	0.38401	1.14	2.8	-5.49	0.02584	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.63498	0.2516	H	0.94582	3.555	0.09310	N	1	D	0.58268	0.982	D	0.65323	0.934	T	0.62671	-0.6805	9	0.87932	D	0	.	12.0708	0.53616	0.3388:0.0:0.6612:0.0	.	65	Q9Y5F2	PCDBB_HUMAN	L	65	ENSP00000346802:R65L	ENSP00000346802:R65L	R	+	2	0	PCDHB11	140559725	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.671000	0.05250	-1.527000	0.01758	-1.501000	0.00957	CGG	PCDHB11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.517	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140579541	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.000	T
PCOLCE2	26577	genome.wustl.edu	37	3	142539879	142539879	+	Missense_Mutation	SNP	C	C	T	rs552293480		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:142539879C>T	ENST00000295992.3	-	8	1264	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R240Q	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	320	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATAACAGTGCCGGCTAATACT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		23151	0.0		0.0	False		,,,				2504	0.001																0													100.0	88.0	92.0					3																	142539879		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.958G>A	3.37:g.142539879C>T	ENSP00000295992:p.Gly320Ser		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.G320S	ENST00000295992.3	37	c.958	CCDS3127.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310933|4.310933	0.81358|0.81358	.|.	.|.	ENSG00000163710|ENSG00000163710	ENST00000295992|ENST00000485766	T|T	0.36157|0.28069	1.27|1.63	5.42|5.42	5.42|5.42	0.78866|0.78866	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56381|0.56381	0.1981|0.1981	M|M	0.81341|0.81341	2.54|2.54	0.51233|0.51233	D|D	0.999911|0.999911	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	T|T	0.56019|0.56019	-0.8048|-0.8048	10|7	0.48119|0.40728	T|T	0.1|0.16	-20.9434|-20.9434	19.205|19.205	0.93726|0.93726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320|.	Q9UKZ9|.	PCOC2_HUMAN|.	S|Q	320|240	ENSP00000295992:G320S|ENSP00000419842:R240Q	ENSP00000295992:G320S|ENSP00000419842:R240Q	G|R	-|-	1|2	0|0	PCOLCE2|PCOLCE2	144022569|144022569	1.000000|1.000000	0.71417|0.71417	0.868000|0.868000	0.34077|0.34077	0.762000|0.762000	0.43233|0.43233	7.437000|7.437000	0.80417|0.80417	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GGC|CGG	PCOLCE2	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.433	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	C	NM_013363		142539879	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	T
PEAK1	79834	genome.wustl.edu	37	15	77426049	77426049	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:77426049C>A	ENST00000560626.2	-	6	3850	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	PEAK1_ENST00000312493.4_Missense_Mutation_p.Q1125H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1125					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCCCTTGGGCTGTCGTGGCT	0.463																																																	0													68.0	64.0	66.0					15																	77426049		1955	4145	6100	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3375G>T	15.37:g.77426049C>A	ENSP00000452796:p.Gln1125His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	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,pfscan_Prot_kinase_cat_dom	p.Q1125H	ENST00000560626.2	37	c.3375	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318052	0.23994	.	.	ENSG00000173517	ENST00000312493	T	0.70045	-0.45	5.58	2.59	0.31030	.	0.206710	0.41938	N	0.000782	T	0.42449	0.1203	N	0.17082	0.46	0.31710	N	0.639663	B	0.09022	0.002	B	0.06405	0.002	T	0.29427	-1.0012	10	0.23891	T	0.37	-1.3098	4.3568	0.11183	0.1594:0.5108:0.0:0.3298	.	1125	Q9H792	PEAK1_HUMAN	H	1125	ENSP00000309230:Q1125H	ENSP00000309230:Q1125H	Q	-	3	2	AC087465.1	75213104	0.766000	0.28496	1.000000	0.80357	0.992000	0.81027	-0.099000	0.11007	0.672000	0.31204	0.561000	0.74099	CAG	PEAK1	-	NULL		0.463	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77426049	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.998	A
PEG3	5178	genome.wustl.edu	37	19	57326753	57326753	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:57326753G>A	ENST00000326441.9	-	10	3420	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.Y893Y|PEG3_ENST00000598410.1_Silent_p.Y895Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.Y1019Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1019					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCTTGGGCGTAACTTGTTT	0.463																																																	0													76.0	70.0	72.0					19																	57326753		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3057C>T	19.37:g.57326753G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Y1019	ENST00000326441.9	37	c.3057	CCDS12948.1	19																																																																																			PEG3	-	NULL		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	G			57326753	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	silent	SNP	0.005	A
PHLPP1	23239	genome.wustl.edu	37	18	60587256	60587256	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:60587256G>C	ENST00000262719.5	+	10	3103	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E445Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	957					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AAGGCTGCCTGAAAGGCTAGA	0.463																																																	0													52.0	52.0	52.0					18																	60587256		1864	4096	5960	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2869G>C	18.37:g.60587256G>C	ENSP00000262719:p.Glu957Gln		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.E957Q	ENST00000262719.5	37	c.2869	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255911	0.59321	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.47869	0.83;2.16	5.43	4.55	0.56014	.	.	.	.	.	T	0.56659	0.2000	L	0.45698	1.435	0.50813	D	0.999892	D	0.71674	0.998	P	0.59761	0.863	T	0.52866	-0.8518	9	0.27785	T	0.31	-11.2246	15.472	0.75446	0.0:0.0:0.8601:0.1399	.	957	O60346	PHLP1_HUMAN	Q	445;957	ENSP00000383170:E445Q;ENSP00000262719:E957Q	ENSP00000262719:E957Q	E	+	1	0	PHLPP1	58738236	1.000000	0.71417	0.402000	0.26371	0.557000	0.35523	9.163000	0.94750	1.272000	0.44329	0.591000	0.81541	GAA	PHLPP1	-	smart_Leu-rich_rpt_typical-subtyp		0.463	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60587256	+1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.995	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIM3	415116	genome.wustl.edu	37	22	50355296	50355296	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:50355296C>T	ENST00000360612.4	+	4	888	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCTTCTTCGCGCAGGTGC	0.692																																																	0													9.0	9.0	9.0					22																	50355296		2160	4248	6408	SO:0001819	synonymous_variant	415116			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.453C>T	22.37:g.50355296C>T			A5D8X8|A8K7J0|B1B0P0|Q68BM2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F151	ENST00000360612.4	37	c.453	CCDS33678.1	22																																																																																			PIM3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.692	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM3	HGNC	protein_coding	OTTHUMT00000317406.1	C	NM_001001852		50355296	+1	no_errors	ENST00000360612	ensembl	human	known	70_37	silent	SNP	0.971	T
PKHD1	5314	genome.wustl.edu	37	6	51613210	51613210	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:51613210C>G	ENST00000371117.3	-	58	9479	c.9204G>C	c.(9202-9204)atG>atC	p.M3068I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M3068I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3068					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGCTGTGTCATCAGAACCA	0.478																																																	0													152.0	135.0	141.0					6																	51613210		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9204G>C	6.37:g.51613210C>G	ENSP00000360158:p.Met3068Ile		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.M3068I	ENST00000371117.3	37	c.9204	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	3.562	-0.089365	0.07097	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79749	-1.3;-1.24	5.86	-2.72	0.05968	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.858065	0.10468	N	0.671063	T	0.39332	0.1074	N	0.17474	0.49	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14023	0.006;0.004;0.01	T	0.31586	-0.9938	10	0.19147	T	0.46	.	7.5625	0.27860	0.0:0.1978:0.2847:0.5175	.	3068;3068;3068	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	3068	ENSP00000360158:M3068I;ENSP00000341097:M3068I	ENSP00000341097:M3068I	M	-	3	0	PKHD1	51721169	0.519000	0.26242	0.338000	0.25549	0.246000	0.25737	-0.218000	0.09240	-0.214000	0.10078	-0.175000	0.13238	ATG	PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51613210	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.158	G
PLEKHA5	54477	genome.wustl.edu	37	12	19459387	19459387	+	Intron	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:19459387G>A	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.D634N|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000317589.4_Intron|RN7SL67P_ENST00000492147.2_RNA	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGTAGCATCGGATACCCACCT	0.622																																					Pancreas(196;329 2193 11246 14234 19524)												0																																										SO:0001627	intron_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-14109G>A	12.37:g.19459387G>A			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.D634N	ENST00000299275.6	37	c.1900	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215654	0.22373	.	.	ENSG00000052126	ENST00000309364	T	0.11495	2.77	0.555	0.555	0.17247	.	.	.	.	.	T	0.07908	0.0198	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42565	-0.9444	5	0.22706	T	0.39	.	.	.	.	.	.	.	.	N	634	ENSP00000311239:D634N	ENSP00000311239:D634N	D	+	1	0	PLEKHA5	19350654	0.003000	0.15002	0.053000	0.19242	0.013000	0.08279	0.334000	0.19787	0.564000	0.29238	0.313000	0.20887	GAT	PLEKHA5	-	NULL		0.622	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	G	NM_019012		19459387	+1	no_errors	ENST00000309364	ensembl	human	known	70_37	missense	SNP	0.051	A
PMFBP1	83449	genome.wustl.edu	37	16	72162565	72162565	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:72162565C>G	ENST00000237353.10	-	14	2340	c.2079G>C	c.(2077-2079)ttG>ttC	p.L693F	PMFBP1_ENST00000355636.6_Missense_Mutation_p.L548F|PMFBP1_ENST00000537465.1_Missense_Mutation_p.L698F	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	698						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCTTTATTCAAGTCTTGGA	0.458																																																	0													122.0	106.0	111.0					16																	72162565		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2079G>C	16.37:g.72162565C>G	ENSP00000237353:p.Leu693Phe		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.L698F	ENST00000237353.10	37	c.2094	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603256	0.66445	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.12774	2.65;2.65;2.65	5.41	-0.185	0.13276	.	0.000000	0.40469	N	0.001082	T	0.16896	0.0406	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69142	0.962;0.962;0.962	T	0.13629	-1.0502	10	0.27785	T	0.31	-12.4457	4.6622	0.12648	0.0:0.4152:0.3103:0.2746	.	698;693;698	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	F	698;693;548	ENSP00000443817:L698F;ENSP00000237353:L693F;ENSP00000347854:L548F	ENSP00000237353:L693F	L	-	3	2	PMFBP1	70720066	0.030000	0.19436	0.277000	0.24703	0.553000	0.35397	-0.239000	0.08965	-0.132000	0.11557	0.655000	0.94253	TTG	PMFBP1	-	NULL		0.458	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72162565	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.010	G
PMS2CL	441194	genome.wustl.edu	37	7	6777427	6777427	+	RNA	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:6777427G>A	ENST00000486256.1	+	0	1554					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GAACTTTTCTGAGTTCTTTAG	0.393																																																	0																																												441194			BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6777427G>A			B4DK88|Q764P1	RNA	SNP	-	NULL	ENST00000486256.1	37	NULL		7																																																																																			PMS2CL	-	-		0.393	PMS2CL-002	KNOWN	basic	processed_transcript	PMS2CL	HGNC	pseudogene	OTTHUMT00000324193.1	G	NR_002217		6777427	+1	no_errors	ENST00000431453	ensembl	human	known	70_37	rna	SNP	0.928	A
PODXL2	50512	genome.wustl.edu	37	3	127379482	127379482	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:127379482G>A	ENST00000342480.6	+	3	650	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	204					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCTCAGGTCCGTGACTTTTCT	0.582																																																	0													94.0	106.0	102.0					3																	127379482		2203	4300	6503	SO:0001583	missense	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.611G>A	3.37:g.127379482G>A	ENSP00000345359:p.Arg204His		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin	p.R204H	ENST00000342480.6	37	c.611	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	G	0.398	-0.919786	0.02396	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.08008	3.14	4.67	-6.98	0.01611	.	2.269880	0.01613	N	0.022652	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	10	0.14252	T	0.57	0.146	1.9214	0.03308	0.3165:0.2412:0.3239:0.1183	.	204	Q9NZ53	PDXL2_HUMAN	H	204	ENSP00000345359:R204H	ENSP00000304498:R204H	R	+	2	0	PODXL2	128862172	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-1.358000	0.02604	-0.699000	0.05077	-0.658000	0.03865	CGT	PODXL2	-	NULL		0.582	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	G	NM_015720		127379482	+1	no_errors	ENST00000342480	ensembl	human	known	70_37	missense	SNP	0.001	A
POM121	9883	genome.wustl.edu	37	7	72416748	72416748	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:72416748G>A	ENST00000434423.2	+	13	3725	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	POM121_ENST00000257622.4_Missense_Mutation_p.R977Q|POM121_ENST00000395270.1_Intron|POM121_ENST00000446813.1_Intron|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000358357.3_Missense_Mutation_p.R977Q			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1242	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGCAGGCCCGAAGGCAGCAC	0.582																																																	0													30.0	34.0	33.0					7																	72416748		2203	4296	6499	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3725G>A	7.37:g.72416748G>A	ENSP00000405562:p.Arg1242Gln		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.R1242Q	ENST00000434423.2	37	c.3725		7	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741224	0.49151	.	.	ENSG00000196313	ENST00000257622;ENST00000358357;ENST00000434423	T;T;T	0.39406	1.08;1.08;1.21	3.01	2.11	0.27256	.	.	.	.	.	T	0.52075	0.1712	M	0.73962	2.25	0.39006	D	0.959442	.	.	.	.	.	.	T	0.55891	-0.8069	7	0.87932	D	0	.	7.6895	0.28559	0.1257:0.0:0.8743:0.0	.	.	.	.	Q	977;977;1242	ENSP00000257622:R977Q;ENSP00000351124:R977Q;ENSP00000405562:R1242Q	ENSP00000257622:R977Q	R	+	2	0	POM121	72054684	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	6.922000	0.75811	0.593000	0.29745	-0.525000	0.04345	CGA	POM121	-	NULL		0.582	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	G			72416748	+1	no_errors	ENST00000434423	ensembl	human	known	70_37	missense	SNP	1.000	A
POTEM	641455	genome.wustl.edu	37	14	20020102	20020102	+	Missense_Mutation	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:20020102T>C	ENST00000551509.1	-	1	170	c.119A>G	c.(118-120)aAg>aGg	p.K40R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	40										endometrium(4)|kidney(1)|lung(4)	9						CACGTTGCTCTTGCCGCTCCC	0.592																																																	0													8.0	9.0	8.0					14																	20020102		212	605	817	SO:0001583	missense	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.119A>G	14.37:g.20020102T>C	ENSP00000452296:p.Lys40Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K40R	ENST00000551509.1	37	c.119	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	t	11.02	1.514825	0.27123	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.36699	1.24	.	.	.	.	.	.	.	.	T	0.40247	0.1109	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.23655	-1.0182	6	.	.	.	.	.	.	.	.	40	A6NI47	POTEM_HUMAN	R	40	ENSP00000452296:K40R	.	K	-	2	0	POTEM	19090102	0.010000	0.17322	0.118000	0.21660	0.119000	0.20118	0.253000	0.18296	0.231000	0.21079	0.228000	0.17796	AAG	POTEM	-	NULL		0.592	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	T	NM_001145442		20020102	-1	no_errors	ENST00000547848	ensembl	human	known	70_37	missense	SNP	0.137	C
PRRC2A	7916	genome.wustl.edu	37	6	31599370	31599370	+	Missense_Mutation	SNP	G	G	A	rs115591494	byFrequency	TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:31599370G>A	ENST00000376033.2	+	16	3154	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	974	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACAGGGGGATGAAACCCCCAA	0.612																																																	0													16.0	19.0	18.0					6																	31599370		1500	2705	4205	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2920G>A	6.37:g.31599370G>A	ENSP00000365201:p.Glu974Lys		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E974K	ENST00000376033.2	37	c.2920	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279338	0.23307	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.15718	2.4;2.4	5.2	5.2	0.72013	.	0.109263	0.41001	D	0.000980	T	0.05868	0.0153	N	0.19112	0.55	0.41621	D	0.98896	P	0.38922	0.651	B	0.27262	0.078	T	0.16808	-1.0390	10	0.87932	D	0	-7.3324	17.6776	0.88235	0.0:0.0:1.0:0.0	.	974	P48634	PRC2A_HUMAN	K	974;963;974;974;199	ENSP00000365175:E974K;ENSP00000365201:E974K	ENSP00000365175:E974K	E	+	1	0	PRRC2A	31707349	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	4.930000	0.63462	2.722000	0.93159	0.655000	0.94253	GAA	PRRC2A	-	NULL		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31599370	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	0.998	A
PSG2	5670	genome.wustl.edu	37	19	43579627	43579627	+	Silent	SNP	G	G	A	rs1064919		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:43579627G>A	ENST00000406487.1	-	3	686	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	196	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGTTGGTTTCGGACAGCTGAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19498	0.0		0.0	False		,,,				2504	0.001																0								G		1,4403		0,1,2201	257.0	262.0	260.0		588	0.1	0.0	19	dbSNP_86	260	1,8595		0,1,4297	no	coding-synonymous	PSG2	NM_031246.3		0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154		196/336	43579627	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.588C>T	19.37:g.43579627G>A			Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S196	ENST00000406487.1	37	c.588	CCDS12616.1	19																																																																																			PSG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	G	NM_031246		43579627	-1	no_errors	ENST00000406487	ensembl	human	known	70_37	silent	SNP	0.009	A
RALGAPA1	253959	genome.wustl.edu	37	14	36121025	36121025	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:36121025C>T	ENST00000389698.3	-	30	4534	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1382K|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E1429K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1395K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1382	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTCCATTTCATAAGATGAA	0.269																																																	0													69.0	75.0	73.0					14																	36121025		2203	4291	6494	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4144G>A	14.37:g.36121025C>T	ENSP00000374348:p.Glu1382Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E1429K	ENST00000389698.3	37	c.4285	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809083	0.90707	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.41	5.41	0.78517	.	0.218509	0.46442	D	0.000286	T	0.47040	0.1424	M	0.64170	1.965	0.51012	D	0.999904	D;P;B;D	0.58268	0.982;0.761;0.427;0.982	P;B;B;P	0.52424	0.608;0.407;0.204;0.698	T	0.48352	-0.9043	10	0.72032	D	0.01	-16.2691	19.203	0.93719	0.0:1.0:0.0:0.0	.	1429;1395;1382;1382	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1382;1382;1382;1429;20;1395;1429	ENSP00000374348:E1382K;ENSP00000302647:E1382K;ENSP00000258840:E1429K;ENSP00000451133:E20K;ENSP00000371803:E1395K;ENSP00000451877:E1429K	ENSP00000258840:E1429K	E	-	1	0	RALGAPA1	35190776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.789000	0.62446	2.535000	0.85469	0.591000	0.81541	GAA	RALGAPA1	-	superfamily_ARM-type_fold		0.269	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	C	XM_210022		36121025	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79294079	79294079	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr15:79294079C>T	ENST00000419573.3	-	17	2822	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	RASGRF1_ENST00000394745.3_Missense_Mutation_p.D66N|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D834N|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACCATCATCACTCTGGTTT	0.333																																																	0													200.0	184.0	190.0					15																	79294079		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2548G>A	15.37:g.79294079C>T	ENSP00000405963:p.Asp850Asn		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D850N	ENST00000419573.3	37	c.2548	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298719	0.60195	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.78364	-1.17;-1.17	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);	0.187187	0.45361	D	0.000371	T	0.76154	0.3948	M	0.63428	1.95	0.80722	D	1	P;P;P;B;P	0.48694	0.704;0.914;0.501;0.411;0.493	B;B;B;B;B	0.44044	0.283;0.439;0.156;0.111;0.372	T	0.75875	-0.3163	10	0.32370	T	0.25	.	13.7235	0.62743	0.0:1.0:0.0:0.0	.	246;850;834;852;834	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	N	850;834;66	ENSP00000405963:D850N;ENSP00000378228:D66N	ENSP00000378224:D834N	D	-	1	0	RASGRF1	77081134	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	6.687000	0.74552	2.309000	0.77851	0.491000	0.48974	GAT	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom		0.333	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	C	NM_002891		79294079	-1	no_errors	ENST00000419573	ensembl	human	known	70_37	missense	SNP	1.000	T
RELL2	285613	genome.wustl.edu	37	5	141017496	141017496	+	5'UTR	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:141017496G>C	ENST00000297164.3	+	0	904				RELL2_ENST00000521367.1_Intron|RELL2_ENST00000444782.1_Intron|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'Flank|HDAC3_ENST00000305264.3_5'Flank	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2						positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCCTTGGGAGGGACAG	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.-297G>C	5.37:g.141017496G>C			D3DQE2|Q6P4E7|Q6UXY2	RNA	SNP	-	NULL	ENST00000297164.3	37	NULL	CCDS4265.1	5																																																																																			RELL2	-	-		0.657	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141017496	+1	no_errors	ENST00000518025	ensembl	human	known	70_37	rna	SNP	1.000	C
RNH1	6050	genome.wustl.edu	37	11	494945	494945	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr11:494945G>A	ENST00000534797.1	-	8	2643	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	RNH1_ENST00000397614.1_Silent_p.D412D|RNH1_ENST00000533410.1_Silent_p.D412D|RNH1_ENST00000354420.2_Silent_p.D412D|RNH1_ENST00000397604.3_Silent_p.D412D|RNH1_ENST00000397615.2_Silent_p.D412D|RNH1_ENST00000438658.2_Silent_p.D412D|RNH1_ENST00000356187.5_Silent_p.D412D			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGCCGGCGTCCCCCAGGC	0.682																																																	0													26.0	28.0	27.0					11																	494945		2201	4300	6501	SO:0001819	synonymous_variant	6050				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1236C>T	11.37:g.494945G>A			B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.D412	ENST00000534797.1	37	c.1236	CCDS7697.1	11																																																																																			RNH1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.682	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1	G	NM_203389		494945	-1	no_errors	ENST00000354420	ensembl	human	known	70_37	silent	SNP	0.003	A
RNPC3	55599	genome.wustl.edu	37	1	104076466	104076467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:104076466_104076467insA	ENST00000533099.1	+	4	582_583	c.346_347insA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000524631.1_Frame_Shift_Ins_p.E116fs|RNPC3_ENST00000423855.2_Frame_Shift_Ins_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TTCAGGCTCTGAAAAAAAAAAA	0.322																																																	0																																										SO:0001589	frameshift_variant	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.358dupA	1.37:g.104076477_104076477dupA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K120fs	ENST00000533099.1	37	c.346_347	CCDS781.1	1																																																																																			RNPC3	-	NULL		0.322	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	-	NM_017619		104076467	+1	no_errors	ENST00000423855	ensembl	human	known	70_37	frame_shift_ins	INS	0.748:0.784	A
SACS	26278	genome.wustl.edu	37	13	23908103	23908103	+	Silent	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:23908103G>C	ENST00000382292.3	-	9	10185	c.9912C>G	c.(9910-9912)ctC>ctG	p.L3304L	SACS_ENST00000382298.3_Silent_p.L3304L|SACS_ENST00000402364.1_Silent_p.L2554L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3304					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCATAAGGCTGAGAGGAAGCA	0.413																																																	0													84.0	74.0	78.0					13																	23908103		2203	4299	6502	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9912C>G	13.37:g.23908103G>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.L3304	ENST00000382292.3	37	c.9912	CCDS9300.2	13																																																																																			SACS	-	NULL		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23908103	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	silent	SNP	0.146	C
RXFP2	122042	genome.wustl.edu	37	13	32367085	32367085	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:32367085G>A	ENST00000298386.2	+	16	1717	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G525E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	549					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGATGGCGGGATTTTTAATA	0.388																																																	0													70.0	71.0	71.0					13																	32367085		2203	4300	6503	SO:0001583	missense	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1646G>A	13.37:g.32367085G>A	ENSP00000298386:p.Gly549Glu		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.G549E	ENST00000298386.2	37	c.1646	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013281	0.75161	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.40756	1.02;1.02	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77370	-0.2613	10	0.66056	D	0.02	.	18.4913	0.90849	0.0:0.0:1.0:0.0	.	525;549	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	525;549	ENSP00000369670:G525E;ENSP00000298386:G549E	ENSP00000298386:G549E	G	+	2	0	RXFP2	31265085	1.000000	0.71417	0.571000	0.28486	0.514000	0.34195	9.647000	0.98478	2.721000	0.93114	0.655000	0.94253	GGA	RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	G	NM_130806		32367085	+1	no_errors	ENST00000298386	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA4F	10505	genome.wustl.edu	37	2	74902683	74902683	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr2:74902683C>T	ENST00000357877.2	+	11	1553	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.I313I	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	468	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGTGCGGATCGGAGCTCAGC	0.493																																																	0													124.0	116.0	119.0					2																	74902683		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1404C>T	2.37:g.74902683C>T			Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.I468	ENST00000357877.2	37	c.1404	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.493	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902683	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	silent	SNP	0.011	T
SERPINB1	1992	genome.wustl.edu	37	6	2836096	2836096	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:2836096C>T	ENST00000380739.5	-	6	931	c.729G>A	c.(727-729)ctG>ctA	p.L243L	SERPINB1_ENST00000537185.1_Silent_p.L92L|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	243					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		ATACCTTCTTCAGGCCCGTGG	0.537																																																	0													92.0	76.0	81.0					6																	2836096		2203	4300	6503	SO:0001819	synonymous_variant	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.729G>A	6.37:g.2836096C>T			A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L243	ENST00000380739.5	37	c.729	CCDS4477.1	6																																																																																			SERPINB1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.537	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	C			2836096	-1	no_errors	ENST00000380739	ensembl	human	known	70_37	silent	SNP	0.368	T
SETMAR	6419	genome.wustl.edu	37	3	4358681	4358681	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:4358681G>C	ENST00000358065.4	+	3	1873	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.L463F	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	602	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ttcaaaagttgaatgaattgg	0.483								Chromatin Structure																																									0													31.0	36.0	34.0					3																	4358681		1591	2784	4375	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1806G>C	3.37:g.4358681G>C	ENSP00000373354:p.Leu602Phe		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.L602F	ENST00000358065.4	37	c.1806	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399102	0.42512	.	.	ENSG00000170364	ENST00000358065;ENST00000425863	T;T	0.78003	-1.14;-1.14	0.235	0.235	0.15431	.	0.000000	0.51477	U	0.000090	T	0.76863	0.4047	M	0.69185	2.1	0.23572	N	0.997382	B;P;P;B	0.44006	0.338;0.796;0.824;0.293	B;B;P;B	0.48704	0.132;0.431;0.587;0.097	T	0.68465	-0.5401	9	0.62326	D	0.03	.	.	.	.	.	346;463;589;347	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	F	602;463	ENSP00000373354:L602F;ENSP00000403145:L463F	ENSP00000373354:L602F	L	+	3	2	SETMAR	4333681	0.917000	0.31117	0.938000	0.37757	0.938000	0.57974	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	TTG	SETMAR	-	NULL		0.483	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4358681	+1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.954	C
SGK3	23678	genome.wustl.edu	37	8	67753177	67753177	+	Intron	DEL	A	A	-	rs200796293		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:67753177delA	ENST00000396596.1	+	13	1105				SGK3_ENST00000345714.4_Intron|SGK3_ENST00000521198.2_Intron|SGK3_ENST00000521435.1_Intron|SGK3_ENST00000522398.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|SGK3_ENST00000520976.1_Intron	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3						ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			actctgtttcaaaaaaaaaaa	0.403																																																	0																																										SO:0001627	intron_variant	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.892-82A>-	8.37:g.67753177delA			A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	RNA	DEL	-	NULL	ENST00000396596.1	37	NULL	CCDS6195.1	8																																																																																			SGK3	-	-		0.403	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	A			67753177	+1	no_errors	ENST00000523260	ensembl	human	putative	70_37	rna	DEL	0.034	-
SH3PXD2B	285590	genome.wustl.edu	37	5	171777403	171777403	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:171777403C>G	ENST00000311601.5	-	10	1146	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E326Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	326					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCGGCCTTCAAACCGCCCG	0.657																																																	0													35.0	39.0	38.0					5																	171777403		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.976G>C	5.37:g.171777403C>G	ENSP00000309714:p.Glu326Gln		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.E326Q	ENST00000311601.5	37	c.976	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.140076	0.06669	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.60672	0.36;0.17	5.03	5.03	0.67393	Src homology-3 domain (1);	0.308866	0.30347	N	0.009833	T	0.48314	0.1493	L	0.51422	1.61	0.26765	N	0.969929	B	0.15141	0.012	B	0.16289	0.015	T	0.30650	-0.9971	10	0.14656	T	0.56	-12.6033	11.732	0.51744	0.0:0.8217:0.1783:0.0	.	326	A1X283	SPD2B_HUMAN	Q	326	ENSP00000430890:E326Q;ENSP00000309714:E326Q	ENSP00000309714:E326Q	E	-	1	0	SH3PXD2B	171710008	0.996000	0.38824	0.897000	0.35233	0.014000	0.08584	4.351000	0.59398	2.325000	0.78763	0.561000	0.74099	GAA	SH3PXD2B	-	superfamily_SH3_domain		0.657	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	C	NM_017963		171777403	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	0.729	G
SHOC2	8036	genome.wustl.edu	37	10	112771399	112771399	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr10:112771399G>A	ENST00000369452.4	+	9	1917	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	SHOC2_ENST00000265277.5_Silent_p.L478L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	524					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTGTATTTGAATGACAACC	0.378																																																	0													123.0	119.0	120.0					10																	112771399		2203	4300	6503	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1572G>A	10.37:g.112771399G>A			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L524	ENST00000369452.4	37	c.1572	CCDS7568.1	10																																																																																			SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	G	NM_007373		112771399	+1	no_errors	ENST00000369452	ensembl	human	known	70_37	silent	SNP	1.000	A
SHROOM1	134549	genome.wustl.edu	37	5	132159867	132159867	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:132159867C>T	ENST00000378679.3	-	7	2290	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	SHROOM1_ENST00000378676.1_Missense_Mutation_p.E427K|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.E496K	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	496					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCACTCTCTGCAGCTGTG	0.557																																																	0													98.0	91.0	93.0					5																	132159867		2203	4300	6503	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1486G>A	5.37:g.132159867C>T	ENSP00000367950:p.Glu496Lys		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.E496K	ENST00000378679.3	37	c.1486	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438757	0.62955	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.36340	1.26;1.27;1.33	4.16	4.16	0.48862	.	0.672691	0.14646	N	0.306861	T	0.44286	0.1286	L	0.32530	0.975	0.09310	N	1	D;D	0.67145	0.996;0.994	D;P	0.64877	0.93;0.854	T	0.17410	-1.0370	10	0.28530	T	0.3	-14.8737	12.2646	0.54670	0.0:1.0:0.0:0.0	.	496;496	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	K	496;496;427	ENSP00000367950:E496K;ENSP00000324245:E496K;ENSP00000367947:E427K	ENSP00000324245:E496K	E	-	1	0	SHROOM1	132187766	0.263000	0.24083	0.121000	0.21740	0.624000	0.37722	2.059000	0.41384	2.620000	0.88729	0.561000	0.74099	GAG	SHROOM1	-	NULL		0.557	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	C	NM_133456		132159867	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	missense	SNP	0.141	T
SLC14A2	8170	genome.wustl.edu	37	18	43224034	43224034	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:43224034C>T	ENST00000255226.6	+	10	2076	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.F420F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	420					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCATCTTCAGACTCCCAC	0.562																																																	0													198.0	188.0	191.0					18																	43224034		2203	4300	6503	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1260C>T	18.37:g.43224034C>T			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	pfam_Urea_transporter	p.F420	ENST00000255226.6	37	c.1260	CCDS11924.1	18																																																																																			SLC14A2	-	pfam_Urea_transporter		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C			43224034	+1	no_errors	ENST00000255226	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC15A1	6564	genome.wustl.edu	37	13	99338473	99338473	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr13:99338473C>T	ENST00000376503.5	-	22	1961	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	636					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCCCTGCCACGATGAGCACA	0.542																																																	0													137.0	90.0	106.0					13																	99338473		2203	4300	6503	SO:0001583	missense	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1906G>A	13.37:g.99338473C>T	ENSP00000365686:p.Val636Met		Q5VW82	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V636M	ENST00000376503.5	37	c.1906	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066783	0.55539	.	.	ENSG00000088386	ENST00000376503	T	0.61158	0.13	5.81	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.061945	0.64402	D	0.000005	T	0.79713	0.4493	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.83809	0.0240	10	0.87932	D	0	-18.821	10.6016	0.45371	0.0:0.8457:0.0:0.1543	.	636	P46059	S15A1_HUMAN	M	636	ENSP00000365686:V636M	ENSP00000365686:V636M	V	-	1	0	SLC15A1	98136474	0.997000	0.39634	0.843000	0.33291	0.274000	0.26718	3.511000	0.53400	1.452000	0.47756	0.655000	0.94253	GTG	SLC15A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.542	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	C	NM_005073		99338473	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	missense	SNP	0.993	T
SLC2A9	56606	genome.wustl.edu	37	4	9836556	9836556	+	Silent	SNP	G	G	A	rs375423927		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:9836556G>A	ENST00000264784.3	-	11	1421	c.1368C>T	c.(1366-1368)acC>acT	p.T456T	SLC2A9_ENST00000506583.1_Silent_p.T427T|SLC2A9_ENST00000309065.3_Silent_p.T427T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	456					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCCAGTTGACGGTGCCTGCAA	0.537																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	72.0	64.0	66.0		1281,1368	-7.3	0.9	4		66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	427/512,456/541	9836556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1368C>T	4.37:g.9836556G>A			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.T456	ENST00000264784.3	37	c.1368	CCDS3407.1	4																																																																																			SLC2A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.537	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9836556	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	silent	SNP	0.553	A
SLC47A2	146802	genome.wustl.edu	37	17	19584766	19584767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:19584766_19584767insC	ENST00000325411.5	-	15	1463_1464	c.1413_1414insG	c.(1411-1416)tggctgfs	p.L472fs	SLC47A2_ENST00000350657.5_Frame_Shift_Ins_p.L450fs|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	472					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AGCATGCCCAGCCAGAGGCCTG	0.569																																																	0																																										SO:0001589	frameshift_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1414dupG	17.37:g.19584768_19584768dupC	ENSP00000326671:p.Leu472fs		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Frame_Shift_Ins	INS	pfam_MATE,tigrfam_MATE	p.L471fs	ENST00000325411.5	37	c.1414_1413	CCDS11211.1	17																																																																																			SLC47A2	-	tigrfam_MATE		0.569	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	NM_152908		19584767	-1	no_errors	ENST00000325411	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:1.000	C
SLC38A10	124565	genome.wustl.edu	37	17	79226316	79226316	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:79226316G>A	ENST00000374759.3	-	13	2007	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	SLC38A10_ENST00000288439.5_Silent_p.L542L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	542					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGTCGGGCAGAGGCGGCGCC	0.622																																																	0													50.0	52.0	51.0					17																	79226316		2203	4300	6503	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1624C>T	17.37:g.79226316G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.L542	ENST00000374759.3	37	c.1624	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79226316	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.013	A
SLC6A14	11254	genome.wustl.edu	37	X	115574018	115574018	+	Splice_Site	SNP	T	T	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chrX:115574018T>A	ENST00000371900.4	+	4	596		c.e4+2			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACCAATAGGTAAAATTTGTC	0.308																																																	0													64.0	60.0	61.0					X																	115574018		2203	4299	6502	SO:0001630	splice_region_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.508+2T>A	X.37:g.115574018T>A			Q5H942	Splice_Site	SNP	-	e4+2	ENST00000371900.4	37	c.508+2	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235836	0.58886	.	.	ENSG00000087916	ENST00000371900	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0884	0.48102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115488046	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.131000	0.77243	1.819000	0.53055	0.486000	0.48141	.	SLC6A14	-	-		0.308	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	T		Intron	115574018	+1	no_errors	ENST00000371900	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SLMAP	7871	genome.wustl.edu	37	3	57898234	57898234	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:57898234C>G	ENST00000428312.1	+	18	1869	c.1775C>G	c.(1774-1776)gCa>gGa	p.A592G	SLMAP_ENST00000494088.1_Missense_Mutation_p.A85G|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.A575G|SLMAP_ENST00000295951.3_Missense_Mutation_p.A575G|SLMAP_ENST00000442599.2_Missense_Mutation_p.A60G|SLMAP_ENST00000449503.2_Missense_Mutation_p.A554G|SLMAP_ENST00000416870.1_Missense_Mutation_p.A85G|SLMAP_ENST00000495364.1_Missense_Mutation_p.A126G			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	592					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAGCAGCAGCAAAGGTTGCC	0.483																																																	0													97.0	92.0	94.0					3																	57898234		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1775C>G	3.37:g.57898234C>G	ENSP00000398661:p.Ala592Gly		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.A592G	ENST00000428312.1	37	c.1775		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	10.89|10.89|10.89	1.477294|1.477294|1.477294	0.26511|0.26511|0.26511	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000466255|ENST00000417128|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T|.|.	0.44083|.|.	0.93;0.93;0.93;1.51;0.93;0.93;0.93;0.93|.|.	5.18|5.18|5.18	4.08|4.08|4.08	0.47627|0.47627|0.47627	Prefoldin beta-like (1);|.|.	0.204155|.|.	0.49916|.|.	D|.|.	0.000122|.|.	T|T|T	0.36193|0.36193|0.36193	0.0958|0.0958|0.0958	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.23882|0.23882|0.23882	N|N|N	0.996571|0.996571|0.996571	B;B;B;B;B;B;B;B|.|.	0.25719|.|.	0.07;0.06;0.057;0.132;0.03;0.046;0.017;0.099|.|.	B;B;B;B;B;B;B;B|.|.	0.36289|.|.	0.217;0.021;0.087;0.221;0.12;0.018;0.016;0.046|.|.	T|T|T	0.16837|0.16837|0.16837	-1.0389|-1.0389|-1.0389	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-0.578|-0.578|-0.578	12.2315|12.2315|12.2315	0.54490|0.54490|0.54490	0.6684:0.3316:0.0:0.0|0.6684:0.3316:0.0:0.0|0.6684:0.3316:0.0:0.0	.|.|.	85;60;126;85;186;554;592;575|.|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.|.	.;.;.;.;.;.;SLMAP_HUMAN;.|.|.	G|E|R	575;575;85;592;554;186;60;126;85;85|176|199;129	ENSP00000295951:A575G;ENSP00000295952:A575G;ENSP00000412342:A85G;ENSP00000398661:A592G;ENSP00000412945:A554G;ENSP00000388978:A60G;ENSP00000419543:A126G;ENSP00000418218:A85G|.|.	ENSP00000295951:A575G|.|.	A|Q|S	+|+|+	2|1|3	0|0|2	SLMAP|SLMAP|SLMAP	57873274|57873274|57873274	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.960000|0.960000|0.960000	0.62799|0.62799|0.62799	3.740000|3.740000|3.740000	0.55082|0.55082|0.55082	0.456000|0.456000|0.456000	0.26937|0.26937|0.26937	-0.363000|-0.363000|-0.363000	0.07495|0.07495|0.07495	GCA|CAA|AGC	SLMAP	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.483	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	C	NM_007159		57898234	+1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	G
SMARCB1	6598	genome.wustl.edu	37	22	24143248	24143248	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr22:24143248G>A	ENST00000263121.7	+	4	676	c.480G>A	c.(478-480)aaG>aaA	p.K160K	SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000407422.3_Silent_p.K151K|SMARCB1_ENST00000344921.6_Silent_p.K151K	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	160	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(5)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCCGAGACAAGAAGAGAACCT	0.582			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	5	Deletion - Frameshift(3)|Unknown(2)	soft_tissue(5)											216.0	134.0	162.0					22																	24143248		2203	4300	6503	SO:0001819	synonymous_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.480G>A	22.37:g.24143248G>A			O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.K160	ENST00000263121.7	37	c.480	CCDS13817.1	22																																																																																			SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx		0.582	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	G	NM_003073		24143248	+1	no_errors	ENST00000263121	ensembl	human	known	70_37	silent	SNP	1.000	A
SPECC1	92521	genome.wustl.edu	37	17	20156869	20156869	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:20156869C>T	ENST00000261503.5	+	10	2701	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.R803C|SPECC1_ENST00000536879.1_Missense_Mutation_p.R224C|SPECC1_ENST00000395527.4_Missense_Mutation_p.R884C	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	884					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTGACTCAACGCTTGGACCT	0.473																																																	0													100.0	80.0	87.0					17																	20156869		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2650C>T	17.37:g.20156869C>T	ENSP00000261503:p.Arg884Cys		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R884C	ENST00000261503.5	37	c.2650	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588099	0.46110	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;T;T	0.95412	-3.7;0.52;0.52	4.68	2.62	0.31277	.	0.378995	0.29106	N	0.013135	D	0.95589	0.8566	L	0.53249	1.67	0.09310	N	0.999999	P;D;D	0.67145	0.939;0.996;0.996	P;P;P	0.58577	0.513;0.719;0.841	D	0.90275	0.4310	10	0.66056	D	0.02	-3.5831	11.4706	0.50266	0.0:0.656:0.344:0.0	.	884;803;884	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	C	884;884;224;803	ENSP00000378901:R884C;ENSP00000261503:R884C;ENSP00000438294:R224C	ENSP00000261503:R884C	R	+	1	0	SPECC1	20097461	0.011000	0.17503	0.001000	0.08648	0.027000	0.11550	1.583000	0.36579	0.667000	0.31107	0.650000	0.86243	CGC	SPECC1	-	NULL		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	C	NM_152904		20156869	+1	no_errors	ENST00000261503	ensembl	human	known	70_37	missense	SNP	0.001	T
RPL23A	6147	genome.wustl.edu	37	17	27049642	27049642	+	Intron	SNP	A	A	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr17:27049642A>T	ENST00000422514.2	+	3	822				RPL23A_ENST00000394938.4_Intron|RPL23A_ENST00000472628.1_Intron|RPL23A_ENST00000496182.1_Intron|SNORD4B_ENST00000459083.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42B_ENST00000458893.1_RNA	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a						cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					GTCTGAACAAAGTGATTGGTA	0.532																																																	0													273.0	242.0	252.0					17																	27049642		876	1991	2867	SO:0001627	intron_variant	26773			U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"""L ribosomal proteins"""	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.210-99A>T	17.37:g.27049642A>T			B2R5B2|P29316|P39024|Q92774	RNA	SNP	-	NULL	ENST00000422514.2	37	NULL	CCDS11241.1	17																																																																																			SNORD4A	-	-		0.532	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD4A	HGNC	protein_coding	OTTHUMT00000255975.1	A	NM_000984		27049642	+1	no_errors	ENST00000459174	ensembl	human	known	70_37	rna	SNP	0.003	T
SPEN	23013	genome.wustl.edu	37	1	16258354	16258354	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:16258354G>A	ENST00000375759.3	+	11	5823	c.5619G>A	c.(5617-5619)gaG>gaA	p.E1873E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1873					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAGGCAGAGAAGATTACAA	0.498																																																	0													72.0	78.0	76.0					1																	16258354		2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5619G>A	1.37:g.16258354G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1873	ENST00000375759.3	37	c.5619	CCDS164.1	1																																																																																			SPEN	-	NULL		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16258354	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.984	A
SPEN	23013	genome.wustl.edu	37	1	16258747	16258747	+	Silent	SNP	G	G	A	rs146430628		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr1:16258747G>A	ENST00000375759.3	+	11	6216	c.6012G>A	c.(6010-6012)ccG>ccA	p.P2004P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2004					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P2004P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATGAACCGAAGGTGGATG	0.577																																																	1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	34.0	34.0	34.0		6012	-9.8	0.0	1	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2004/3665	16258747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6012G>A	1.37:g.16258747G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2004	ENST00000375759.3	37	c.6012	CCDS164.1	1																																																																																			SPEN	-	NULL		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16258747	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.000	A
SPTB	6710	genome.wustl.edu	37	14	65240132	65240132	+	Missense_Mutation	SNP	T	T	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr14:65240132T>C	ENST00000389721.5	-	24	5016	c.4984A>G	c.(4984-4986)Atc>Gtc	p.I1662V	SPTB_ENST00000389722.3_Missense_Mutation_p.I1662V|SPTB_ENST00000542895.1_Missense_Mutation_p.I1662V|SPTB_ENST00000556626.1_Missense_Mutation_p.I1662V|SPTB_ENST00000389720.3_Missense_Mutation_p.I1662V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1662					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAAGTCTGATGATCTGTTCC	0.572																																																	0													105.0	97.0	100.0					14																	65240132		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4984A>G	14.37:g.65240132T>C	ENSP00000374371:p.Ile1662Val		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.I1662V	ENST00000389721.5	37	c.4984	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384673	0.25031	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	L	0.53249	1.67	0.39436	D	0.967165	B;B;B	0.12013	0.002;0.005;0.005	B;B;B	0.24541	0.036;0.054;0.013	T	0.45659	-0.9246	10	0.46703	T	0.11	.	14.1654	0.65473	0.0:0.0:0.0:1.0	.	446;1662;1666	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	1666;1662;446;327;1662;1662;1662;1662	ENSP00000374372:I1662V;ENSP00000451324:I327V;ENSP00000451752:I1662V;ENSP00000374371:I1662V;ENSP00000443882:I1662V;ENSP00000374370:I1662V	ENSP00000334218:I446V	I	-	1	0	SPTB	64309885	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	1.657000	0.37366	2.052000	0.61016	0.459000	0.35465	ATC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	T			65240132	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	missense	SNP	1.000	C
SRRM2-AS1	100128788	genome.wustl.edu	37	16	2789023	2789023	+	RNA	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:2789023C>T	ENST00000382313.2	-	0	1782				SRRM2-AS1_ENST00000573802.1_RNA|SRRM2-AS1_ENST00000571305.1_RNA|SRRM2-AS1_ENST00000577055.1_RNA					SRRM2 antisense RNA 1																		CACCAGGCCTCTGTTCTCCCC	0.602																																																	0													89.0	90.0	90.0					16																	2789023		692	1591	2283			100128788			AK056063		16p13.3	2012-10-12	2012-08-15		ENSG00000205913	ENSG00000205913		"""Long non-coding RNAs"""	44162	non-coding RNA	RNA, long non-coding			"""SRRM2 antisense RNA 1 (non-protein coding)"""				Standard	NR_027274		Approved		uc010uwg.1		OTTHUMG00000177357		16.37:g.2789023C>T				RNA	SNP	-	NULL	ENST00000382313.2	37	NULL		16																																																																																			SRRM2-AS1	-	-		0.602	SRRM2-AS1-003	KNOWN	basic	antisense	SRRM2-AS1	HGNC	antisense	OTTHUMT00000436407.1	C	NR_027274		2789023	-1	no_errors	ENST00000382313	ensembl	human	known	70_37	rna	SNP	0.000	T
SRRM2-AS1	100128788	genome.wustl.edu	37	16	2794531	2794531	+	RNA	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:2794531C>T	ENST00000577055.1	-	0	1266				SRRM2-AS1_ENST00000573802.1_RNA|SRRM2-AS1_ENST00000571305.1_RNA					SRRM2 antisense RNA 1																		cacttgaggtcaggagtttga	0.517																																																	0													58.0	51.0	53.0					16																	2794531		692	1591	2283			100128788			AK056063		16p13.3	2012-10-12	2012-08-15		ENSG00000205913	ENSG00000205913		"""Long non-coding RNAs"""	44162	non-coding RNA	RNA, long non-coding			"""SRRM2 antisense RNA 1 (non-protein coding)"""				Standard	NR_027274		Approved		uc010uwg.1		OTTHUMG00000177357		16.37:g.2794531C>T				RNA	SNP	-	NULL	ENST00000577055.1	37	NULL		16																																																																																			SRRM2-AS1	-	-		0.517	SRRM2-AS1-001	KNOWN	basic	antisense	SRRM2-AS1	HGNC	antisense	OTTHUMT00000436406.1	C	NR_027274		2794531	-1	no_errors	ENST00000571305	ensembl	human	known	70_37	rna	SNP	0.062	T
SSC5D	284297	genome.wustl.edu	37	19	56029800	56029800	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:56029800C>T	ENST00000389623.6	+	14	4180	c.4157C>T	c.(4156-4158)tCt>tTt	p.S1386F		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1386	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						TTAGAGCCCTCTCCAGCCTTG	0.602																																																	0													150.0	160.0	157.0					19																	56029800		692	1591	2283	SO:0001583	missense	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.4157C>T	19.37:g.56029800C>T	ENSP00000374274:p.Ser1386Phe		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.S1386F	ENST00000389623.6	37	c.4157	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	12.55	1.970903	0.34754	.	.	ENSG00000179954	ENST00000389623	T	0.39787	1.06	2.94	-5.88	0.02290	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	9	0.42905	T	0.14	.	5.5058	0.16854	0.0:0.5613:0.1619:0.2768	.	1386	A1L4H1	SRCRL_HUMAN	F	1386	ENSP00000374274:S1386F	ENSP00000374274:S1386F	S	+	2	0	SSC5D	60721612	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	0.030000	0.13688	-1.491000	0.01840	0.282000	0.19409	TCT	SSC5D	-	NULL		0.602	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	C	XM_001718392		56029800	+1	no_errors	ENST00000389623	ensembl	human	known	70_37	missense	SNP	0.000	T
SURF6	6838	genome.wustl.edu	37	9	136201270	136201270	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:136201270C>G	ENST00000372022.4	-	2	527	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	88					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCTGCTTCCTCTTTGGCTGCC	0.627																																																	0													56.0	58.0	57.0					9																	136201270		2203	4300	6503	SO:0001583	missense	6838			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.262G>C	9.37:g.136201270C>G	ENSP00000361092:p.Glu88Gln		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.E88Q	ENST00000372022.4	37	c.262	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593154	0.13875	.	.	ENSG00000148296	ENST00000372022	T	0.15139	2.45	4.09	-0.872	0.10638	.	0.577619	0.17517	N	0.171418	T	0.06371	0.0164	N	0.11201	0.11	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.38929	-0.9638	10	0.15952	T	0.53	-13.9254	5.3423	0.15990	0.0:0.2936:0.4864:0.22	.	88	O75683	SURF6_HUMAN	Q	88	ENSP00000361092:E88Q	ENSP00000361092:E88Q	E	-	1	0	SURF6	135191091	0.000000	0.05858	0.000000	0.03702	0.349000	0.29174	-0.476000	0.06591	-0.045000	0.13468	0.514000	0.50259	GAG	SURF6	-	NULL		0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	C	NM_006753		136201270	-1	no_errors	ENST00000372022	ensembl	human	known	70_37	missense	SNP	0.001	G
SYNE1	23345	genome.wustl.edu	37	6	152720920	152720920	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:152720920G>C	ENST00000367255.5	-	48	7669	c.7068C>G	c.(7066-7068)atC>atG	p.I2356M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I2393M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I2363M|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2363M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I2356M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2356					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTAGAGCTGATGTTGCTTT	0.383										HNSCC(10;0.0054)																																							0													159.0	147.0	151.0					6																	152720920		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7068C>G	6.37:g.152720920G>C	ENSP00000356224:p.Ile2356Met		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I2356M	ENST00000367255.5	37	c.7068	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364724	0.24684	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	6.06	5.18	0.71444	.	0.000000	0.64402	D	0.000007	T	0.18002	0.0432	L	0.55834	1.745	0.80722	D	1	B;B;B;B	0.31318	0.044;0.319;0.319;0.134	B;B;B;B	0.26969	0.049;0.075;0.075;0.067	T	0.07214	-1.0784	10	0.48119	T	0.1	.	8.2156	0.31509	0.2316:0.0:0.7684:0.0	.	2339;2356;2356;2363	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2356;2363;2356;2363;2393	ENSP00000356224:I2356M;ENSP00000396024:I2363M;ENSP00000265368:I2356M;ENSP00000390975:I2363M;ENSP00000341887:I2393M	ENSP00000265368:I2356M	I	-	3	3	SYNE1	152762613	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	1.553000	0.36255	2.882000	0.98803	0.655000	0.94253	ATC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152720920	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C
HIRIP3	8479	genome.wustl.edu	37	16	30000973	30000973	+	IGR	SNP	G	G	T	rs201513301		TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:30000973G>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.Q764H	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						AGACTCGGCAGTACAAGGCTC	0.582																																																	0													75.0	67.0	70.0					16																	30000973		2197	4300	6497	SO:0001628	intergenic_variant	9344			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30000973G>T			H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q764H	ENST00000279392.3	37	c.2292	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896371	0.72639	.	.	ENSG00000149930	ENST00000279394	T	0.75050	-0.9	5.34	4.38	0.52667	.	.	.	.	.	D	0.86657	0.5985	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88022	0.2769	8	.	.	.	.	12.1806	0.54210	0.0846:0.0:0.9154:0.0	.	764	Q9UL54-2	.	H	764	ENSP00000279394:Q764H	.	Q	+	3	2	TAOK2	29908474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.521000	0.67086	1.458000	0.47871	0.655000	0.94253	CAG	TAOK2	-	superfamily_Homeodomain-like		0.582	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255160.2	G	NM_003609		30000973	+1	no_errors	ENST00000279394	ensembl	human	known	70_37	missense	SNP	1.000	T
TGM3	7053	genome.wustl.edu	37	20	2293594	2293594	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr20:2293594G>A	ENST00000381458.5	+	5	654	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	197					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ATAGGAGTCTGAATTTCCGCC	0.463																																																	0													180.0	162.0	168.0					20																	2293594		2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.591G>A	20.37:g.2293594G>A			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L197	ENST00000381458.5	37	c.591	CCDS33435.1	20																																																																																			TGM3	-	NULL		0.463	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2293594	+1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.999	A
TMEM184C	55751	genome.wustl.edu	37	4	148554078	148554078	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:148554078G>A	ENST00000296582.3	+	8	1378	c.804G>A	c.(802-804)ttG>ttA	p.L268L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	268						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGCTTTGTTGGTAAAAGTTG	0.393																																																	0													151.0	135.0	141.0					4																	148554078		2203	4300	6503	SO:0001819	synonymous_variant	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.804G>A	4.37:g.148554078G>A			D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	pfam_Ost-alpha	p.L268	ENST00000296582.3	37	c.804	CCDS3770.1	4																																																																																			TMEM184C	-	pfam_Ost-alpha		0.393	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	G	NM_018241		148554078	+1	no_errors	ENST00000296582	ensembl	human	known	70_37	silent	SNP	1.000	A
TLR3	7098	genome.wustl.edu	37	4	187003882	187003882	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:187003882G>T	ENST00000296795.3	+	4	1146	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D71Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	348					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAAGATTGATGATTTTTCTTT	0.373																																																	0													62.0	57.0	58.0					4																	187003882		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1042G>T	4.37:g.187003882G>T	ENSP00000296795:p.Asp348Tyr		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D348Y	ENST00000296795.3	37	c.1042	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874226	0.33069	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.26067	1.76;1.76	5.48	3.77	0.43336	.	0.041576	0.85682	D	0.000000	T	0.50650	0.1628	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.54649	-0.8262	10	0.56958	D	0.05	.	12.3022	0.54880	0.1381:0.0:0.8619:0.0	.	348	O15455	TLR3_HUMAN	Y	348;348;71	ENSP00000296795:D348Y;ENSP00000423684:D71Y	ENSP00000296795:D348Y	D	+	1	0	TLR3	187240876	1.000000	0.71417	0.997000	0.53966	0.231000	0.25187	6.644000	0.74338	0.803000	0.34113	-0.259000	0.10710	GAT	TLR3	-	NULL		0.373	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187003882	+1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.995	T
TMPRSS9	360200	genome.wustl.edu	37	19	2421914	2421914	+	Silent	SNP	C	C	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2421914C>A	ENST00000332578.3	+	13	2115	c.2115C>A	c.(2113-2115)atC>atA	p.I705I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	705	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGGGATCGTGAGCTGGG	0.612																																																	0													68.0	68.0	68.0					19																	2421914		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2115C>A	19.37:g.2421914C>A			Q6ZND6|Q7Z411	Silent	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.I705	ENST00000332578.3	37	c.2115	CCDS12088.1	19																																																																																			TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.612	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	C	NM_182973		2421914	+1	no_errors	ENST00000332578	ensembl	human	known	70_37	silent	SNP	0.721	A
TMTC1	83857	genome.wustl.edu	37	12	29908757	29908757	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:29908757G>A	ENST00000539277.1	-	4	674	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TMTC1_ENST00000381224.2_Silent_p.L98L|TMTC1_ENST00000551659.1_Silent_p.L206L|TMTC1_ENST00000552618.1_Silent_p.L206L|TMTC1_ENST00000256062.5_Silent_p.L98L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	206						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACTGAGCAGCAAGAAGAAG	0.473																																																	0													97.0	90.0	92.0					12																	29908757		2203	4300	6503	SO:0001819	synonymous_variant	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.616C>T	12.37:g.29908757G>A			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L98	ENST00000539277.1	37	c.292	CCDS53772.1	12																																																																																			TMTC1	-	NULL		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	G	NM_031920		29908757	-1	no_errors	ENST00000256062	ensembl	human	known	70_37	silent	SNP	1.000	A
TPCN1	53373	genome.wustl.edu	37	12	113730871	113730871	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr12:113730871G>C	ENST00000335509.6	+	26	2560	c.2246G>C	c.(2245-2247)aGa>aCa	p.R749T	TPCN1_ENST00000541517.1_Missense_Mutation_p.R821T|TPCN1_ENST00000392569.4_Missense_Mutation_p.R681T|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.R821T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	749					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CAGATGGAGAGATACCAGGTG	0.592																																																	0													24.0	27.0	26.0					12																	113730871		2203	4300	6503	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2246G>C	12.37:g.113730871G>C	ENSP00000335300:p.Arg749Thr		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R821T	ENST00000335509.6	37	c.2462	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110353	0.20714	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.24	-2.86	0.05717	.	0.353602	0.31697	N	0.007205	T	0.30727	0.0774	L	0.34521	1.04	0.09310	N	1	B;B	0.24258	0.063;0.1	B;B	0.24701	0.055;0.036	T	0.25012	-1.0144	10	0.21540	T	0.41	-5.1714	11.8961	0.52658	0.738:0.0:0.262:0.0	.	821;749	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	749;821;821;681	ENSP00000335300:R749T;ENSP00000448083:R821T;ENSP00000438125:R821T;ENSP00000376350:R681T	ENSP00000335300:R749T	R	+	2	0	TPCN1	112215254	0.000000	0.05858	0.037000	0.18230	0.741000	0.42261	0.122000	0.15687	-0.368000	0.08040	-0.291000	0.09656	AGA	TPCN1	-	NULL		0.592	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	G	NM_017901		113730871	+1	no_errors	ENST00000541517	ensembl	human	known	70_37	missense	SNP	0.002	C
TRIM2	23321	genome.wustl.edu	37	4	154216602	154216602	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr4:154216602G>A	ENST00000437508.2	+	6	1044	c.843G>A	c.(841-843)ctG>ctA	p.L281L	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.L308L	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	281					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCGAGAAGCTGAACGAGCTGG	0.582																																																	0													71.0	62.0	65.0					4																	154216602		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.843G>A	4.37:g.154216602G>A			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.L308	ENST00000437508.2	37	c.924	CCDS47147.1	4																																																																																			TRIM2	-	smart_Bbox_C		0.582	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	G			154216602	+1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	0.998	A
TTPA	7274	genome.wustl.edu	37	8	63973937	63973937	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr8:63973937G>A	ENST00000260116.4	-	5	742	c.711C>T	c.(709-711)ttC>ttT	p.F237F	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	237	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GAATGTCTGGGAAATGCTGAA	0.388																																																	0													106.0	106.0	106.0					8																	63973937		2203	4300	6503	SO:0001819	synonymous_variant	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.711C>T	8.37:g.63973937G>A			Q71V64	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.F237	ENST00000260116.4	37	c.711	CCDS6178.1	8																																																																																			TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.388	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	G	NM_000370		63973937	-1	no_errors	ENST00000260116	ensembl	human	known	70_37	silent	SNP	0.990	A
UMOD	7369	genome.wustl.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396134.2_Silent_p.T470T			P07911	UROM_HUMAN	uromodulin	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537																																																	0													120.0	102.0	108.0					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.T470	ENST00000570689.1	37	c.1410	CCDS10583.1	16																																																																																			UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	G			20355366	-1	no_errors	ENST00000424589	ensembl	human	known	70_37	silent	SNP	0.806	A
EARS2	124454	genome.wustl.edu	37	16	23568536	23568536	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr16:23568536G>A	ENST00000563459.1	-	1	135	c.129C>T	c.(127-129)ccC>ccT	p.P43P	EARS2_ENST00000449606.1_Silent_p.P43P|UBFD1_ENST00000219638.4_Missense_Mutation_p.G49R|UBFD1_ENST00000395878.3_5'Flank|EARS2_ENST00000564501.1_Silent_p.P43P|EARS2_ENST00000563232.1_Silent_p.P43P|UBFD1_ENST00000567264.1_5'Flank|UBFD1_ENST00000567212.1_5'Flank			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	43					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTGTGGGGCTGGGAGCGAACC	0.697																																																	0													11.0	16.0	14.0					16																	23568536		1957	4120	6077	SO:0001819	synonymous_variant	56061			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.129C>T	16.37:g.23568536G>A			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.G49R	ENST00000563459.1	37	c.145	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329602	0.81690	.	.	ENSG00000103353	ENST00000219638	.	.	.	4.99	-2.22	0.06952	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.29941	N	0.821075	.	.	.	.	.	.	T	0.46414	-0.9193	5	0.87932	D	0	-3.6548	1.0521	0.01582	0.2575:0.2859:0.3102:0.1464	.	.	.	.	R	49	.	ENSP00000219638:G49R	G	+	1	0	UBFD1	23476037	0.955000	0.32602	0.995000	0.50966	0.832000	0.47134	-0.172000	0.09868	-0.111000	0.12001	-0.253000	0.11424	GGG	UBFD1	-	NULL		0.697	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	G	NM_133451		23568536	+1	no_errors	ENST00000219638	ensembl	human	known	70_37	missense	SNP	0.951	A
USP19	10869	genome.wustl.edu	37	3	49154041	49154041	+	Splice_Site	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr3:49154041C>G	ENST00000398888.2	-	7	1142		c.e7-1		USP19_ENST00000453664.1_Splice_Site|USP19_ENST00000417901.1_Splice_Site|USP19_ENST00000398892.3_Splice_Site|USP19_ENST00000434032.2_Splice_Site|USP19_ENST00000398898.2_Splice_Site|USP19_ENST00000398896.1_Splice_Site|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTCGGGCTCTATATTGAGA	0.532																																																	0													76.0	76.0	76.0					3																	49154041		2055	4192	6247	SO:0001630	splice_region_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.824-1G>C	3.37:g.49154041C>G			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Splice_Site	SNP	-	e6-1	ENST00000398888.2	37	c.824-1	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728027	0.30593	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP19	49129045	1.000000	0.71417	0.989000	0.46669	0.223000	0.24884	4.838000	0.62803	2.941000	0.99782	0.655000	0.94253	.	USP19	-	-		0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677	Intron	49154041	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	splice_site	SNP	1.000	G
USP49	25862	genome.wustl.edu	37	6	41773771	41773771	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr6:41773771C>G	ENST00000394253.3	-	3	1280	c.951G>C	c.(949-951)ttG>ttC	p.L317F	USP49_ENST00000373009.3_Missense_Mutation_p.L317F|USP49_ENST00000297229.2_Missense_Mutation_p.L317F|USP49_ENST00000373010.1_Missense_Mutation_p.L317F|USP49_ENST00000373006.1_Missense_Mutation_p.L317F			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	317	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTCATTTCTCAAGGACAGCT	0.577																																																	0													39.0	45.0	43.0					6																	41773771		2203	4300	6503	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.951G>C	6.37:g.41773771C>G	ENSP00000377797:p.Leu317Phe		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L317F	ENST00000394253.3	37	c.951		6	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234200	0.09969	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06608	3.76;3.28;3.76;3.54;3.54	5.4	-6.17	0.02091	.	1.269220	0.05505	N	0.559211	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.49826	-0.8898	10	0.51188	T	0.08	0.0159	9.7911	0.40706	0.0:0.2462:0.5097:0.2441	.	317	Q70CQ1-2	.	F	317	ENSP00000377797:L317F;ENSP00000362101:L317F;ENSP00000362100:L317F;ENSP00000362097:L317F;ENSP00000297229:L317F	ENSP00000297229:L317F	L	-	3	2	USP49	41881749	0.000000	0.05858	0.001000	0.08648	0.480000	0.33159	-0.711000	0.05019	-0.774000	0.04590	0.655000	0.94253	TTG	USP49	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.577	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	HGNC	protein_coding	OTTHUMT00000316513.3	C	NM_018561		41773771	-1	no_errors	ENST00000373009	ensembl	human	known	70_37	missense	SNP	0.002	G
VPS13A	23230	genome.wustl.edu	37	9	79972637	79972637	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr9:79972637G>T	ENST00000360280.3	+	56	8096	c.7836G>T	c.(7834-7836)atG>atT	p.M2612I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2612I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2612I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2573I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2612					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCATAACATGAAAATTCTGC	0.333																																																	0													49.0	52.0	51.0					9																	79972637		2203	4299	6502	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7836G>T	9.37:g.79972637G>T	ENSP00000353422:p.Met2612Ile		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M2612I	ENST00000360280.3	37	c.7836	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044243	0.93685	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.52754	0.83;0.65;0.74;0.83	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.79926	2.475	0.80722	D	1	P;P;D;D	0.58970	0.863;0.944;0.984;0.984	P;P;P;P	0.59424	0.729;0.655;0.857;0.857	T	0.68550	-0.5379	9	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	2573;2612;2612;2612	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	2612;2573;2612;2612	ENSP00000365821:M2612I;ENSP00000365823:M2573I;ENSP00000353422:M2612I;ENSP00000349985:M2612I	.	M	+	3	0	VPS13A	79162457	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.775000	0.91772	2.835000	0.97688	0.650000	0.86243	ATG	VPS13A	-	NULL		0.333	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79972637	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	T
YIPF2	78992	genome.wustl.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																																	0																																										SO:0001651	inframe_deletion	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del			In_Frame_Del	DEL	pfam_Yip1	p.Q74in_frame_del	ENST00000586748.1	37	c.223_221	CCDS12251.1	19																																																																																			YIPF2	-	NULL		0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	GCT	NM_024029		11038364	-1	no_errors	ENST00000253031	ensembl	human	known	70_37	in_frame_del	DEL	0.404:0.366:0.337	-
ZNF366	167465	genome.wustl.edu	37	5	71756370	71756370	+	Silent	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr5:71756370G>A	ENST00000318442.5	-	2	1444	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	318					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGTCTGGGTGAAGGCCTTGT	0.652																																																	0													48.0	44.0	45.0					5																	71756370		2203	4300	6503	SO:0001819	synonymous_variant	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.954C>T	5.37:g.71756370G>A			Q5HYI9|Q7RTV4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F318	ENST00000318442.5	37	c.954	CCDS4015.1	5																																																																																			ZNF366	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	G			71756370	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF407	55628	genome.wustl.edu	37	18	72345774	72345774	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:72345774G>C	ENST00000299687.5	+	1	2799	c.2799G>C	c.(2797-2799)aaG>aaC	p.K933N	ZNF407_ENST00000309902.6_Missense_Mutation_p.K933N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K933N|ZNF407_ENST00000582337.1_Missense_Mutation_p.K933N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGTAAAAAGAATGCTGGCT	0.458																																																	0													66.0	66.0	66.0					18																	72345774		1910	4125	6035	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2799G>C	18.37:g.72345774G>C	ENSP00000299687:p.Lys933Asn		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.K933N	ENST00000299687.5	37	c.2799	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601678	0.13939	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12465	2.68;3.08	5.84	4.04	0.47022	.	0.486127	0.18989	N	0.125641	T	0.14442	0.0349	L	0.27053	0.805	0.25165	N	0.990327	P;P;P	0.52842	0.956;0.923;0.875	P;P;B	0.51016	0.656;0.463;0.357	T	0.10894	-1.0610	10	0.22109	T	0.4	.	11.4221	0.49987	0.0656:0.0:0.8082:0.1262	.	933;933;933	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	933	ENSP00000299687:K933N;ENSP00000310359:K933N	ENSP00000299687:K933N	K	+	3	2	ZNF407	70474762	0.225000	0.23685	0.004000	0.12327	0.009000	0.06853	0.957000	0.29215	1.011000	0.39340	0.455000	0.32223	AAG	ZNF407	-	NULL		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	G	NM_017757		72345774	+1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.718	C
ZNF479	90827	genome.wustl.edu	37	7	57188193	57188193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr7:57188193G>C	ENST00000331162.4	-	5	1199	c.929C>G	c.(928-930)tCa>tGa	p.S310*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTGAGGGTTGAGGATACGCT	0.468																																																	0													18.0	18.0	18.0					7																	57188193		1886	4064	5950	SO:0001587	stop_gained	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.929C>G	7.37:g.57188193G>C	ENSP00000333776:p.Ser310*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S310*	ENST00000331162.4	37	c.929	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	17.44	3.390172	0.62066	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000333776:S310X	S	-	2	0	ZNF479	57192135	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.134000	0.10436	0.453000	0.26858	0.456000	0.33151	TCA	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	G	XM_291202		57188193	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	nonsense	SNP	0.005	C
ZNF521	25925	genome.wustl.edu	37	18	22804821	22804821	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr18:22804821G>C	ENST00000361524.3	-	4	3209	c.3061C>G	c.(3061-3063)Cgc>Ggc	p.R1021G	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021G|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACCACGCAGCGAAAGCCTGTC	0.507			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													75.0	65.0	68.0					18																	22804821		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3061C>G	18.37:g.22804821G>C	ENSP00000354794:p.Arg1021Gly		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1021G	ENST00000361524.3	37	c.3061	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968375	0.34754	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.91;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.00581	-1.1660	10	0.35671	T	0.21	-45.0411	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1021	Q96K83	ZN521_HUMAN	G	1021;1055;1021	ENSP00000354794:R1021G;ENSP00000382352:R1021G	ENSP00000354794:R1021G	R	-	1	0	ZNF521	21058819	1.000000	0.71417	0.976000	0.42696	0.979000	0.70002	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGC	ZNF521	-	smart_Znf_C2H2-like		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22804821	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF556	80032	genome.wustl.edu	37	19	2877793	2877793	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2877793C>T	ENST00000307635.2	+	4	924	c.837C>T	c.(835-837)atC>atT	p.I279I	ZNF556_ENST00000586426.1_Silent_p.I278I	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATATGATCATGCACGCCG	0.537																																																	0													61.0	55.0	57.0					19																	2877793		2203	4300	6503	SO:0001819	synonymous_variant	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.837C>T	19.37:g.2877793C>T			Q96GM3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I279	ENST00000307635.2	37	c.837	CCDS12097.1	19																																																																																			ZNF556	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.537	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	C	NM_024967		2877793	+1	no_errors	ENST00000307635	ensembl	human	known	70_37	silent	SNP	0.217	T
ZNF77	58492	genome.wustl.edu	37	19	2934414	2934414	+	Silent	SNP	C	C	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:2934414C>T	ENST00000314531.4	-	4	803	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGGTTTTCTGCCCATGAT	0.408																																																	0													68.0	67.0	67.0					19																	2934414		2203	4300	6503	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.711G>A	19.37:g.2934414C>T			Q86XJ3|Q9NPP0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q237	ENST00000314531.4	37	c.711	CCDS12099.1	19																																																																																			ZNF77	-	pfscan_Znf_C2H2		0.408	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217		2934414	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	silent	SNP	0.995	T
ZNF799	90576	genome.wustl.edu	37	19	12502748	12502748	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:12502748G>C	ENST00000430385.3	-	4	664	c.464C>G	c.(463-465)tCa>tGa	p.S155*	ZNF799_ENST00000419318.1_Nonsense_Mutation_p.S123*|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGTTTGAAGTGAGTTGTGGTA	0.423																																																	0													186.0	173.0	177.0					19																	12502748		2203	4300	6503	SO:0001587	stop_gained	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.464C>G	19.37:g.12502748G>C	ENSP00000411084:p.Ser155*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S155*	ENST00000430385.3	37	c.464	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.741385	0.97805	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	.	.	.	1.2	-2.05	0.07321	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.6166	0.08079	0.0:0.2359:0.291:0.473	.	.	.	.	X	123;155	.	ENSP00000415278:S123X	S	-	2	0	ZNF799	12363748	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-2.247000	0.01190	-0.467000	0.06932	0.430000	0.28490	TCA	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502748	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF66	7617	genome.wustl.edu	37	19	20989079	20989079	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:20989079G>A	ENST00000344519.8	+	4	696	c.673G>A	c.(673-675)Gga>Aga	p.G225R	ZNF66_ENST00000425625.1_Missense_Mutation_p.G271R|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AATTCATACTGGAGAGAAACG	0.388																																																	0																																										SO:0001583	missense	7617			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.673G>A	19.37:g.20989079G>A	ENSP00000461425:p.Gly225Arg		I3L4P5|Q15939	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G271R	ENST00000344519.8	37	c.811		19																																																																																			ZNF66P	-	pfscan_Znf_C2H2		0.388	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	G	NG_023377		20989079	+1	no_errors	ENST00000425625	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37879599	37879599	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KL-01A-11D-A17W-09	TCGA-DG-A2KL-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4f854a5-4255-4c57-b449-df4a3278418d	8b2fc007-7f8e-4f12-b68b-3c19c9911fcc	g.chr19:37879599G>T	ENST00000436120.2	+	5	755	c.648G>T	c.(646-648)aaG>aaT	p.K216N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCTGAGAAGGAATCTTTGA	0.343																																																	0													54.0	54.0	54.0					19																	37879599		1812	4068	5880	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.648G>T	19.37:g.37879599G>T	ENSP00000390179:p.Lys216Asn		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K216N	ENST00000436120.2	37	c.648	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033168	0.75504	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	3.16	0.36331	.	0.000000	0.33895	N	0.004442	T	0.41834	0.1176	L	0.36672	1.1	0.80722	D	1	B;P	0.36535	0.281;0.557	B;B	0.36418	0.112;0.224	T	0.43750	-0.9372	9	0.87932	D	0	.	10.7401	0.46147	0.0956:0.0:0.9044:0.0	.	216;184	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	N	216;184;164	.	ENSP00000325231:K184N	K	+	3	2	ZNF527	42571439	0.108000	0.22018	0.034000	0.17996	0.575000	0.36095	0.296000	0.19083	0.980000	0.38523	0.655000	0.94253	AAG	ZNF527	-	NULL		0.343	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37879599	+1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	1.000	T
