#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_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
MYO1A	4640	genome.wustl.edu	37	12	57441190	57441190	+	Splice_Site	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr12:57441190C>T	ENST00000442789.2	-	6	614	c.327G>A	c.(325-327)gaG>gaA	p.E109E	MYO1A_ENST00000300119.3_Splice_Site_p.E109E|MYO1A_ENST00000544473.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	109	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCTTGCTGGCCTCTGTGCAGG	0.587																																																	0								ENSG00000166866						65.0	57.0	60.0					12																	57441190		2203	4300	6503	MYO1A	SO:0001630	splice_region_variant	0			-	HGNC	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.326-1G>A	12.37:g.57441190C>T		Somatic	0	21	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q9UQD7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E109	ENST00000442789.2	37	c.327	CCDS8929.1	12																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.587	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	protein_coding	OTTHUMT00000313833.2	C	NM_005379	-	Silent	57441190	-1	no_errors	ENST00000300119	ensembl	human	known	74_37	silent	SNP	1.000	T
RP1L1	94137	genome.wustl.edu	37	8	10466863	10466863	+	Missense_Mutation	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr8:10466863C>T	ENST00000382483.3	-	4	4968	c.4745G>A	c.(4744-4746)cGg>cAg	p.R1582Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1662					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTACCCGCCCGGCCCTGGAG	0.672																																																	0								ENSG00000183638						12.0	15.0	14.0					8																	10466863		1987	4132	6119	RP1L1	SO:0001583	missense	0			-	HGNC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4745G>A	8.37:g.10466863C>T	ENSP00000371923:p.Arg1582Gln	Somatic	0	29	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R1582Q	ENST00000382483.3	37	c.4745	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238608	0.22711	.	.	ENSG00000183638	ENST00000382483	T	0.08984	3.03	4.66	2.87	0.33458	.	.	.	.	.	T	0.07548	0.0190	L	0.34521	1.04	0.09310	N	1	B	0.27450	0.179	B	0.24155	0.051	T	0.28586	-1.0039	9	0.72032	D	0.01	-8.0241	9.6298	0.39772	0.0:0.828:0.0:0.172	.	1582	A6NKC6	.	Q	1582	ENSP00000371923:R1582Q	ENSP00000371923:R1582Q	R	-	2	0	RP1L1	10504273	0.594000	0.26849	0.008000	0.14137	0.018000	0.09664	1.604000	0.36804	0.585000	0.29608	-0.333000	0.08304	CGG	-	NULL		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C		-		10466863	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	0.080	T
SLC16A6	9120	genome.wustl.edu	37	17	66267497	66267497	+	Silent	SNP	G	G	A			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:66267497G>A	ENST00000327268.4	-	6	968	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.V268V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	268					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TCTTCACCAGGACCTGCTGCA	0.458																																																	0								ENSG00000108932						89.0	87.0	88.0					17																	66267497		2203	4300	6503	SLC16A6	SO:0001819	synonymous_variant	0			-	HGNC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.804C>T	17.37:g.66267497G>A		Somatic	0	106	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	77	25.24	Q6P1X3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V268	ENST00000327268.4	37	c.804	CCDS11675.1	17																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	protein_coding	OTTHUMT00000448323.1	G	NM_004694	-		66267497	-1	no_errors	ENST00000327268	ensembl	human	known	74_37	silent	SNP	0.001	A
HRCT1	646962	genome.wustl.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-	rs143611048	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.66														929	0.185503	0.1619	0.1268	5008	,	,		6334	0.3085		0.1213	False		,,,				2504	0.1984																0								ENSG00000196196																																			HRCT1	SO:0001651	inframe_deletion	0				HGNC		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.300_302delCCA	9.37:g.35906593_35906595delCCA	ENSP00000346283:p.His105del	Somatic	0	9	0.00		0.5349292515368972	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	B7ZBJ1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.H104in_frame_del	ENST00000354323.2	37	c.300_302	CCDS35012.1	9																																																																																			-	NULL		0.660	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	protein_coding	OTTHUMT00000334099.1	CCA	NM_001039792			35906586	+1	no_errors	ENST00000354323	ensembl	human	known	74_37	in_frame_del	DEL	0.016:0.009:0.003	-
MAGEC1	9947	genome.wustl.edu	37	X	140996612	140996612	+	Missense_Mutation	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chrX:140996612C>T	ENST00000285879.4	+	4	3708	c.3422C>T	c.(3421-3423)tCt>tTt	p.S1141F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S208F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1141										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCTCTTCTGAGTGAAGT	0.527										HNSCC(15;0.026)																																							0								ENSG00000155495						67.0	57.0	61.0					X																	140996612		2203	4299	6502	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3422C>T	X.37:g.140996612C>T	ENSP00000285879:p.Ser1141Phe	Somatic	0	105	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	66	25.84	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MAGE,pfscan_MAGE	p.S1141F	ENST00000285879.4	37	c.3422	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	5.600	0.295457	0.10622	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05513	4.16;3.43	1.06	1.06	0.20224	.	.	.	.	.	T	0.05731	0.0150	N	0.03608	-0.345	0.09310	N	1	D	0.55605	0.972	P	0.58013	0.831	T	0.37911	-0.9685	9	0.72032	D	0.01	.	5.1278	0.14894	0.0:1.0:0.0:0.0	.	1141	O60732	MAGC1_HUMAN	F	1141;208	ENSP00000285879:S1141F;ENSP00000385500:S208F	ENSP00000285879:S1141F	S	+	2	0	MAGEC1	140824278	0.001000	0.12720	0.004000	0.12327	0.024000	0.10985	0.154000	0.16343	0.811000	0.34303	0.279000	0.19357	TCT	-	NULL		0.527	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140996612	+1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.004	T
SPINK5	11005	genome.wustl.edu	37	5	147470592	147470592	+	Intron	SNP	G	G	T	rs72660254	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr5:147470592G>T	ENST00000256084.7	+	8	644				SPINK5_ENST00000359874.3_Intron|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Intron	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGAAGACGGAAATGCTTG	0.388																																																	0								ENSG00000133710																																			SPINK5	SO:0001627	intron_variant	0			-	HGNC	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.603-136G>T	5.37:g.147470592G>T		Somatic	0	36	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000256084.7	37	NULL	CCDS43382.1	5																																																																																			-	-		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	protein_coding	OTTHUMT00000259215.2	G	NM_001127698	-		147470592	+1	no_errors	ENST00000476608	ensembl	human	known	74_37	rna	SNP	0.844	T
TNN	63923	genome.wustl.edu	37	1	175049496	175049496	+	Missense_Mutation	SNP	A	A	G	rs143132527	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:175049496A>G	ENST00000239462.4	+	4	1095	c.982A>G	c.(982-984)Ata>Gta	p.I328V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	328	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AACCAAGTACATAGTCACCCT	0.547																																																	0								ENSG00000120332						125.0	120.0	122.0					1																	175049496		2203	4300	6503	TNN	SO:0001583	missense	0			-	HGNC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.982A>G	1.37:g.175049496A>G	ENSP00000239462:p.Ile328Val	Somatic	0	65	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	B9EGP3|Q5R360	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.I328V	ENST00000239462.4	37	c.982	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	A	0.075	-1.194727	0.01594	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.55588	0.51	5.7	0.742	0.18341	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.312878	0.35870	N	0.002937	T	0.33206	0.0855	L	0.43701	1.375	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.11329	0.005;0.006	T	0.14090	-1.0485	10	0.13108	T	0.6	.	2.1158	0.03713	0.5633:0.1211:0.1992:0.1164	.	328;328	B3KXB6;Q9UQP3	.;TENN_HUMAN	V	328	ENSP00000239462:I328V	ENSP00000239462:I328V	I	+	1	0	TNN	173316119	0.666000	0.27475	0.609000	0.28983	0.717000	0.41224	0.725000	0.25970	-0.121000	0.11787	-0.274000	0.10170	ATA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	A	XM_040527	-		175049496	+1	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	SNP	0.242	G
RBP2	5948	genome.wustl.edu	37	3	139181030	139181030	+	Missense_Mutation	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:139181030C>T	ENST00000232217.2	-	2	232	c.176G>A	c.(175-177)cGc>cAc	p.R59H	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	59					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	ATCATAGTTGCGGAATGTGCT	0.443																																																	0								ENSG00000114113						236.0	197.0	210.0					3																	139181030		2203	4300	6503	RBP2	SO:0001583	missense	0			-	HGNC	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.176G>A	3.37:g.139181030C>T	ENSP00000232217:p.Arg59His	Somatic	0	111	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	66	22.35	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.R59H	ENST00000232217.2	37	c.176	CCDS3109.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.304005	0.95601	.	.	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.08634	3.07;3.07	5.9	5.9	0.94986	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.127140	0.64402	D	0.000016	T	0.28665	0.0710	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.00108	-1.2050	10	0.72032	D	0.01	.	20.273	0.98481	0.0:1.0:0.0:0.0	.	59	P50120	RET2_HUMAN	H	59	ENSP00000232217:R59H;ENSP00000424333:R59H	ENSP00000232217:R59H	R	-	2	0	RBP2	140663720	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.694000	0.84235	2.804000	0.96469	0.650000	0.86243	CGC	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.443	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP2	protein_coding	OTTHUMT00000358490.1	C	NM_004164	-		139181030	-1	no_errors	ENST00000232217	ensembl	human	known	74_37	missense	SNP	1.000	T
GAB3	139716	genome.wustl.edu	37	X	153906377	153906378	+	3'UTR	INS	-	-	A	rs371001859		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chrX:153906377_153906378insA	ENST00000369575.3	-	0	1869_1870				GAB3_ENST00000424127.2_3'UTR|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3						macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTAGTGGACaaaaaaaaaaa	0.411																																																	0								ENSG00000160219																																			GAB3	SO:0001624	3_prime_UTR_variant	0				HGNC	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.*78->T	X.37:g.153906388_153906388dupA		Somatic	0	30	0.00		0.5349292515368972	11	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A6NHF8|E9PB44	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000369575.3	37	NULL	CCDS14760.1	X																																																																																			-	-		0.411	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	protein_coding	OTTHUMT00000061192.2	-	NM_001081573			153906378	-1	no_errors	ENST00000496390	ensembl	human	known	74_37	rna	INS	0.004:0.006	A
CRY2	1408	genome.wustl.edu	37	11	45882531	45882531	+	Missense_Mutation	SNP	G	G	C			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:45882531G>C	ENST00000443527.2	+	4	685	c.663G>C	c.(661-663)gaG>gaC	p.E221D	CRY2_ENST00000417225.2_Missense_Mutation_p.E139D|CRY2_ENST00000473199.1_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	200					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCAGGGCCGAGATCCAGGAGA	0.607																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0								ENSG00000121671						86.0	68.0	74.0					11																	45882531		2203	4299	6502	CRY2	SO:0001583	missense	0			-	HGNC	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.663G>C	11.37:g.45882531G>C	ENSP00000406751:p.Glu221Asp	Somatic	0	43	0.00		0.5349292515368972	12	53.85	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.E221D	ENST00000443527.2	37	c.663	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687101	0.48097	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	6.17	4.29	0.51040	.	0.513748	0.23585	N	0.046607	T	0.31670	0.0804	N	0.22421	0.69	0.30185	N	0.800062	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19877	-1.0292	9	0.23891	T	0.37	-19.3709	10.6174	0.45458	0.0:0.2179:0.4485:0.3335	.	221;139	B4DZD6;Q49AN0-2	.;.	D	139;221	.	ENSP00000397419:E139D	E	+	3	2	CRY2	45839107	0.856000	0.29760	1.000000	0.80357	0.955000	0.61496	-0.118000	0.10692	0.917000	0.36895	0.655000	0.94253	GAG	-	superfamily_DNA_photolyase_N		0.607	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	protein_coding	OTTHUMT00000330235.2	G	NM_021117	-		45882531	+1	no_errors	ENST00000443527	ensembl	human	known	74_37	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573	ENSG00000141510						139.0	108.0	118.0					17																	7577559		2203	4300	6503	TP53	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	Somatic	0	54	0.00		0.5349292515368972	17	72.13	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S241F	ENST00000269305.4	37	c.722	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	rs28934573		7577559	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160317691	160317691	+	Intron	DEL	T	T	-			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr2:160317691delT	ENST00000392783.2	-	4	641				BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000392782.1_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACATTACTTGTTTTTTTTTTA	0.343																																																	0								ENSG00000123636																																			BAZ2B	SO:0001627	intron_variant	0				HGNC	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.146-7379A>-	2.37:g.160317691delT		Somatic	0	19	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			-	-		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	protein_coding	OTTHUMT00000255037.2	T				160317691	-1	no_errors	ENST00000483316	ensembl	human	known	74_37	rna	DEL	0.998	-
CIDEA	1149	genome.wustl.edu	37	18	12254562	12254563	+	Intron	INS	-	-	CCGCGCACACACCCAT	rs71369912	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr18:12254562_12254563insCCGCGCACACACCCAT	ENST00000320477.9	+	1	103					NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a						apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCTCCGCGACCCCGCGCACACA	0.703														1926	0.384585	0.1082	0.3228	5008	,	,		14723	0.6359		0.4672	False		,,,				2504	0.4581																0								ENSG00000176194																																			CIDEA	SO:0001627	intron_variant	0				HGNC	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.38+142->CCGCGCACACACCCAT	18.37:g.12254562_12254563insCCGCGCACACACCCAT		Somatic	NA	NA	NA		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B0YIY7|Q6UPR7	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.H64fs	ENST00000320477.9	37	c.180_181	CCDS11856.1	18																																																																																			-	NULL		0.703	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CIDEA	protein_coding	OTTHUMT00000254599.2	-	NM_001279			12254563	+1	no_errors	ENST00000522713	ensembl	human	known	74_37	frame_shift_ins	INS	0.077:0.122	CCGCGCACACACCCAT
CAMKMT	79823	genome.wustl.edu	37	2	44619054	44619054	+	Intron	SNP	C	C	A			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr2:44619054C>A	ENST00000378494.3	+	3	420				CAMKMT_ENST00000407131.1_Intron|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000402247.1_Intron|CAMKMT_ENST00000403853.3_Intron	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						tgatactcacctgcatttgac	0.373																																																	0								ENSG00000143919																																			CAMKMT	SO:0001627	intron_variant	0			-	HGNC		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.376+1610C>A	2.37:g.44619054C>A		Somatic	0	48	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378494.3	37	NULL	CCDS1820.1	2																																																																																			-	-		0.373	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	protein_coding	OTTHUMT00000250678.2	C	NM_024766	-		44619054	+1	no_errors	ENST00000477623	ensembl	human	known	74_37	rna	SNP	0.000	A
PIPSL	266971	genome.wustl.edu	37	10	95718381	95718382	+	RNA	INS	-	-	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr10:95718381_95718382insT	ENST00000480546.1	-	0	2915_2916					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ttctttctttctttctttcttt	0.312																																																	0								ENSG00000180764																																			PIPSL			0				HGNC	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718384_95718384dupT		Somatic	0	9	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	Q6NUK8	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			-	-		0.312	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	pseudogene	OTTHUMT00000351483.1	-	NR_002319			95718382	-1	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	INS	0.065:0.064	T
CASP8AP2	9994	genome.wustl.edu	37	6	90572405	90572405	+	RNA	DEL	C	C	-			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr6:90572405delC	ENST00000551025.1	+	0	2414									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAAAGAGACCCCTGGAGAA	0.358																																					Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412						91.0	94.0	93.0					6																	90572405		1843	4091	5934	CASP8AP2			0				HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572405delC		Somatic	0	26	0.00		0.5349292515368972	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		C	NM_001137667			90572405	+1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	DEL	0.036	-
SELP	6403	genome.wustl.edu	37	1	169562868	169562868	+	Missense_Mutation	SNP	C	C	A			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:169562868C>A	ENST00000263686.6	-	14	2419	c.2382G>T	c.(2380-2382)ttG>ttT	p.L794F	SELP_ENST00000367794.2_Missense_Mutation_p.L732F|SELP_ENST00000367786.2_Missense_Mutation_p.L732F|SELP_ENST00000367791.2_Missense_Mutation_p.L608F|SELP_ENST00000367793.2_Missense_Mutation_p.L732F|SELP_ENST00000367788.2_Missense_Mutation_p.L732F|SELP_ENST00000367792.2_Missense_Mutation_p.L610F|SELP_ENST00000458599.2_Missense_Mutation_p.L610F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	794					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCTTTCTTAGCAAAGCCAGGA	0.418																																																	0								ENSG00000174175						75.0	73.0	73.0					1																	169562868		2203	4300	6503	SELP	SO:0001583	missense	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2382G>T	1.37:g.169562868C>A	ENSP00000263686:p.Leu794Phe	Somatic	0	60	0.00		0.5349292515368972	27	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	Q5R344|Q8IVD1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.L794F	ENST00000263686.6	37	c.2382	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033656|4.033656	0.75504|0.75504	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.29142	.|2.1;1.93;1.65;1.58;1.81;1.93;1.65	5.62|5.62	-2.66|-2.66	0.06077|0.06077	.|.	.|0.183418	.|0.27176	.|N	.|0.020579	T|T	0.19886|0.19886	0.0478|0.0478	M|M	0.67953|0.67953	2.075|2.075	0.22610|0.22610	N|N	0.998939|0.998939	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.75020	.|0.964;0.985	T|T	0.29912|0.29912	-0.9996|-0.9996	5|10	.|0.12430	.|T	.|0.62	-13.4059|-13.4059	1.8481|1.8481	0.03163|0.03163	0.3724:0.345:0.1125:0.17|0.3724:0.345:0.1125:0.17	.|.	.|793;794	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	S|F	610|608;794;793;610;794;732;732;610;608;732;732;717	.|ENSP00000263686:L794F;ENSP00000356767:L732F;ENSP00000356768:L732F;ENSP00000356766:L610F;ENSP00000356765:L608F;ENSP00000356762:L732F;ENSP00000356760:L732F	.|ENSP00000263686:L794F	A|L	-|-	1|3	0|2	SELP|SELP	167829492|167829492	0.996000|0.996000	0.38824|0.38824	0.990000|0.990000	0.47175|0.47175	0.986000|0.986000	0.74619|0.74619	0.040000|0.040000	0.13905|0.13905	-0.259000|-0.259000	0.09432|0.09432	0.650000|0.650000	0.86243|0.86243	GCT|TTG	-	NULL		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	C	NM_003005	-		169562868	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	SNP	0.939	A
AKAP2	11217	genome.wustl.edu	37	9	112899370	112899372	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr9:112899370_112899372delCAG	ENST00000259318.7	+	2	1060_1062	c.853_855delCAG	c.(853-855)cagdel	p.Q290del	AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000374530.3_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	290										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gaagcagttacagcagcagcagc	0.552																																																	0								ENSG00000157654																																			PALM2-AKAP2	SO:0001651	inframe_deletion	0				HGNC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.853_855delCAG	9.37:g.112899379_112899381delCAG	ENSP00000259318:p.Gln290del	Somatic	0	48	0.00		0.5349292515368972	27	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Paralemmin,pfam_RII_binding_1	p.Q519in_frame_del	ENST00000259318.7	37	c.1546_1548	CCDS48003.1	9																																																																																			-	NULL		0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	protein_coding	OTTHUMT00000346067.3	CAG	NM_001004065			112899372	+1	no_errors	ENST00000374530	ensembl	human	known	74_37	in_frame_del	DEL	0.823:0.886:0.022	-
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)						ENSG00000121879						99.0	89.0	92.0					3																	178952085		1912	4130	6042	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic	0	41	0.00		0.5349292515368972	12	55.56	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q14CW1|Q99762	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	A		rs121913279		178952085	+1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	G
SV2A	9900	genome.wustl.edu	37	1	149879718	149879718	+	Missense_Mutation	SNP	G	G	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:149879718G>T	ENST00000369146.3	-	9	1910	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	SV2A_ENST00000369145.1_Missense_Mutation_p.H474N	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	474					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCTGGAGATGGCGGATCATG	0.522																																																	0								ENSG00000159164						148.0	142.0	144.0					1																	149879718		2203	4300	6503	SV2A	SO:0001583	missense	0			-	HGNC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1420C>A	1.37:g.149879718G>T	ENSP00000358142:p.His474Asn	Somatic	0	55	0.00		0.5349292515368972	9	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.H474N	ENST00000369146.3	37	c.1420	CCDS940.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170226	0.57584	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.57595	0.39;0.39	5.26	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.132256	0.52532	D	0.000073	T	0.41259	0.1151	M	0.67953	2.075	0.45172	D	0.99818	P	0.41188	0.741	P	0.45138	0.471	T	0.33471	-0.9867	10	0.27082	T	0.32	-13.9149	11.4024	0.49878	0.087:0.0:0.913:0.0	.	474	Q7L0J3	SV2A_HUMAN	N	474	ENSP00000358142:H474N;ENSP00000358141:H474N	ENSP00000358141:H474N	H	-	1	0	SV2A	148146342	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	1.541000	0.36126	1.448000	0.47680	0.555000	0.69702	CAT	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.522	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	protein_coding	OTTHUMT00000033754.1	G		-		149879718	-1	no_errors	ENST00000369146	ensembl	human	known	74_37	missense	SNP	1.000	T
ENAM	10117	genome.wustl.edu	37	4	71508541	71508541	+	Silent	SNP	T	T	C			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr4:71508541T>C	ENST00000396073.3	+	9	1679	c.1398T>C	c.(1396-1398)gtT>gtC	p.V466V	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	466					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGTATGAAGTTAATAAATCAA	0.388																																																	0								ENSG00000132464						35.0	37.0	36.0					4																	71508541		2176	4296	6472	ENAM	SO:0001819	synonymous_variant	0			-	HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1398T>C	4.37:g.71508541T>C		Somatic	0	92	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	55	33.73	Q17RI5|Q9H3D1	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V466	ENST00000396073.3	37	c.1398	CCDS3544.2	4																																																																																			-	NULL		0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	T	NM_031889	-		71508541	+1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	SNP	0.064	C
PSMB3	5691	genome.wustl.edu	37	17	36909562	36909562	+	Missense_Mutation	SNP	G	G	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:36909562G>T	ENST00000225426.4	+	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CGGTCTGGCCGGGCTCGCCAC	0.622																																																	0								ENSG00000108294						43.0	40.0	41.0					17																	36909562		2203	4300	6503	PSMB3	SO:0001583	missense	0			-	HGNC	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.163G>T	17.37:g.36909562G>T	ENSP00000225426:p.Gly55Trp	Somatic	0	51	0.00		0.5349292515368972	504	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Proteasome_sua/b	p.G55W	ENST00000225426.4	37	c.163	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140395	0.56936	.	.	ENSG00000108294	ENST00000225426	D	0.83506	-1.73	5.63	5.63	0.86233	Proteasome, beta-type subunit, conserved site (1);	0.097278	0.64402	D	0.000001	D	0.93641	0.7969	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94844	0.8007	10	0.87932	D	0	.	18.2342	0.89944	0.0:0.0:1.0:0.0	.	55	P49720	PSB3_HUMAN	W	55	ENSP00000225426:G55W	ENSP00000225426:G55W	G	+	1	0	PSMB3	34163088	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	9.749000	0.98871	2.659000	0.90383	0.561000	0.74099	GGG	-	pfam_Proteasome_sua/b		0.622	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	protein_coding	OTTHUMT00000256810.2	G	NM_002795	-		36909562	+1	no_errors	ENST00000225426	ensembl	human	known	74_37	missense	SNP	1.000	T
TIRAP	114609	genome.wustl.edu	37	11	126162666	126162666	+	Missense_Mutation	SNP	G	G	T	rs199545047		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:126162666G>T	ENST00000392680.2	+	5	767	c.362G>T	c.(361-363)cGg>cTg	p.R121L	TIRAP_ENST00000392679.1_Missense_Mutation_p.R121L|TIRAP_ENST00000392678.3_Missense_Mutation_p.R121L|RP11-712L6.7_ENST00000533378.1_RNA|RP11-712L6.5_ENST00000528876.1_5'Flank	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	121	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CTGCAACTCCGGGATGCAACC	0.642																																																	0								ENSG00000150455						27.0	26.0	26.0					11																	126162666		2201	4298	6499	TIRAP	SO:0001583	missense	0			-	HGNC	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.362G>T	11.37:g.126162666G>T	ENSP00000376447:p.Arg121Leu	Somatic	0	48	0.00		0.5349292515368972	4	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom	p.R121L	ENST00000392680.2	37	c.362	CCDS8472.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998469	0.74818	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.03496	3.91;3.91;3.91	5.67	5.67	0.87782	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.79693	2.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00118	-1.2034	9	.	.	.	-40.0178	19.7738	0.96383	0.0:0.0:1.0:0.0	.	121;121	P58753;Q56UH9	TIRAP_HUMAN;.	L	121	ENSP00000376446:R121L;ENSP00000376445:R121L;ENSP00000376447:R121L	.	R	+	2	0	TIRAP	125667876	1.000000	0.71417	0.397000	0.26308	0.151000	0.21798	8.631000	0.90991	2.672000	0.90937	0.655000	0.94253	CGG	-	pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom		0.642	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TIRAP	protein_coding	OTTHUMT00000277092.1	G	NM_148910	-		126162666	+1	no_errors	ENST00000392678	ensembl	human	known	74_37	missense	SNP	0.997	T
TOMM34	10953	genome.wustl.edu	37	20	43581294	43581294	+	Intron	DEL	A	A	-			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr20:43581294delA	ENST00000372813.3	-	4	533				PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Stop_Codon_Del	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34						protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				atttcagcttaaaatgccacc	0.438																																																	0								ENSG00000101104																																			PABPC1L	SO:0001627	intron_variant	0				HGNC	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.381-651T>-	20.37:g.43581294delA		Somatic	0	38	0.00		0.5349292515368972	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q53GH9|Q6IBN7|Q9NTZ3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD	p.*150fs	ENST00000372813.3	37	c.449	CCDS13340.1	20																																																																																			-	NULL		0.438	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1L	protein_coding	OTTHUMT00000079390.3	A	NM_006809			43581294	+1	no_errors	ENST00000372819	ensembl	human	known	74_37	frame_shift_del	DEL	0.024	-
IRF5	3663	genome.wustl.edu	37	7	128587352	128587381	+	In_Frame_Del	DEL	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	-	rs199508964|rs113806178|rs60344245|rs566635242|rs202130620|rs375983447|rs534043449|rs79724471	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr7:128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENST00000402030.2	+	6	574_603	c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	c.(502-531)actctgcagccgcccactctgcggccgcctdel	p.TLQPPTLRPP168del	IRF5_ENST00000357234.5_In_Frame_Del_p.TLQPPTLRPP184del|IRF5_ENST00000249375.4_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000473745.1_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	168					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTGGCCGCCCACTCTGCAGCCGCCCACTCTGCGGCCGCCTACTCTGCAGC	0.652														2428	0.484824	0.534	0.366	5008	,	,		17245	0.4425		0.5338	False		,,,				2504	0.4959																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000128604		,,,,	1942,1932		603,736,598					,,,,	0.1	0.9		dbSNP_129	14	3856,4082		1083,1690,1196	no	coding,intron,coding,coding,coding	IRF5	NM_032643.3,NM_001242452.1,NM_001098630.1,NM_001098629.1,NM_001098627.2	,,,,	1686,2426,1794	A1A1,A1R,RR		48.5765,49.8709,49.0857	,,,,	,,,,		5798,6014				IRF5	SO:0001651	inframe_deletion	0				HGNC		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	7.37:g.128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENSP00000385352:p.Thr168_Pro177del	Somatic	NA	NA	NA		0.5349292515368972	14	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.PPTLRPPTLQ187in_frame_del	ENST00000402030.2	37	c.550_579	CCDS5808.1	7																																																																																			-	NULL		0.652	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	NM_001098627			128587381	+1	no_errors	ENST00000357234	ensembl	human	known	74_37	in_frame_del	DEL	0.766:0.707:0.638:0.562:0.538:0.511:0.480:0.444:0.402:0.360:0.317:0.273:0.262:0.251:0.239:0.226:0.213:0.199:0.185:0.170:0.155:0.138:0.122:0.120:0.118:0.116:0.113:0.110:0.107:0.104	-
PCDHA3	56145	genome.wustl.edu	37	5	140182562	140182562	+	Missense_Mutation	SNP	G	G	A			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr5:140182562G>A	ENST00000522353.2	+	1	1780	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V594M|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	594	Cadherin 6. {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(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGCGAAGGTGCGCGCAGT	0.682																																																	0								ENSG00000255408						102.0	99.0	100.0					5																	140182562		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1780G>A	5.37:g.140182562G>A	ENSP00000429808:p.Val594Met	Somatic	0	94	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.82	O75286	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V594M	ENST00000522353.2	37	c.1780	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900333	0.33535	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.57907	0.37;0.37	4.18	3.29	0.37713	Cadherin (4);Cadherin-like (1);	15.792800	0.02795	U	0.122513	T	0.76062	0.3935	M	0.90542	3.125	0.25916	N	0.983175	D;D	0.89917	1.0;0.997	D;D	0.71414	0.959;0.973	T	0.50423	-0.8830	10	0.87932	D	0	.	4.3051	0.10942	0.3681:0.0:0.6319:0.0	.	594;594	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	594	ENSP00000429808:V594M;ENSP00000434086:V594M	ENSP00000429808:V594M	V	+	1	0	PCDHA3	140162746	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	0.977000	0.29475	2.047000	0.60756	0.313000	0.20887	GTG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	G	NM_018906	-		140182562	+1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128483309	128483309	+	Silent	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr7:128483309C>T	ENST00000325888.8	+	17	2838	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	FLNC_ENST00000346177.6_Silent_p.I859I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	859					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTTCCACATCAAGGTGGACC	0.642																																																	0								ENSG00000128591						28.0	33.0	31.0					7																	128483309		2070	4218	6288	FLNC	SO:0001819	synonymous_variant	0			-	HGNC	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2577C>T	7.37:g.128483309C>T		Somatic	0	67	0.00		0.5349292515368972	2	75.00	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I859	ENST00000325888.8	37	c.2577	CCDS43644.1	7																																																																																			-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C		-		128483309	+1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	49033844	49033844	+	Missense_Mutation	SNP	C	C	T	rs121913299|rs137853294		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr13:49033844C>T	ENST00000267163.4	+	20	2119	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	661	Domain B.|Pocket; binds T and E1A.		R -> W (in RB; mild form). {ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9311732}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R661W(3)|p.L660fs*2(3)|p.R661fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCCTATCTCCGGCTAAATAC	0.383		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		15740	0.0		0.0	False		,,,				2504	0.0						yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	33	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(4)|Substitution - Missense(3)	bone(10)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(1)|liver(1)	GRCh37	CM920603	RB1	M	rs137853294	ENSG00000139687						77.0	82.0	80.0					13																	49033844		2203	4300	6503	RB1	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1981C>T	13.37:g.49033844C>T	ENSP00000267163:p.Arg661Trp	Somatic	0	73	0.00		0.5349292515368972	5	58.33	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	78	17.02	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R661W	ENST00000267163.4	37	c.1981	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280853	0.80692	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.95482	-3.72	5.7	5.7	0.88788	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.64402	D	0.000001	D	0.98460	0.9487	M	0.93638	3.44	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99110	1.0846	9	0.87932	D	0	-7.7136	19.8339	0.96646	0.0:1.0:0.0:0.0	.	661	P06400	RB_HUMAN	W	640;661	ENSP00000267163:R661W	ENSP00000267163:R661W	R	+	1	2	RB1	47931845	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.597000	0.61062	2.698000	0.92095	0.585000	0.79938	CGG	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.383	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		rs137853294		49033844	+1	no_errors	ENST00000267163	ensembl	human	known	74_37	missense	SNP	1.000	T
ADAMTS19	171019	genome.wustl.edu	37	5	129072866	129072866	+	Missense_Mutation	SNP	A	A	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr5:129072866A>T	ENST00000274487.4	+	23	3724	c.3579A>T	c.(3577-3579)gaA>gaT	p.E1193D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1193	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1193E(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTGCTGTGAAACATGCAGGG	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000145808						89.0	75.0	80.0					5																	129072866		2203	4300	6503	ADAMTS19	SO:0001583	missense	0			-	HGNC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3579A>T	5.37:g.129072866A>T	ENSP00000274487:p.Glu1193Asp	Somatic	0	33	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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.E1193D	ENST00000274487.4	37	c.3579	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617764	0.66787	.	.	ENSG00000145808	ENST00000274487	T	0.45668	0.89	4.12	-0.0789	0.13713	PLAC (2);	0.079149	0.47852	N	0.000220	T	0.27278	0.0669	N	0.08118	0	0.39816	D	0.972778	D	0.58268	0.982	P	0.58013	0.831	T	0.25847	-1.0120	9	.	.	.	.	2.0326	0.03533	0.2308:0.1348:0.4956:0.1388	.	1193	Q8TE59	ATS19_HUMAN	D	1193	ENSP00000274487:E1193D	.	E	+	3	2	ADAMTS19	129100765	1.000000	0.71417	0.933000	0.37362	0.984000	0.73092	0.672000	0.25187	0.005000	0.14708	-0.182000	0.12963	GAA	-	pfam_PLAC,pfscan_PLAC		0.488	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	protein_coding	OTTHUMT00000250979.2	A	NM_133638	-		129072866	+1	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	SNP	1.000	T
RAPGEF2	9693	genome.wustl.edu	37	4	160216906	160216906	+	Intron	SNP	T	T	C	rs66478721|rs373967945|rs10024829|rs113715111|rs60091174		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr4:160216906T>C	ENST00000264431.4	+	2	479				AC105316.1_ENST00000401270.1_RNA|RAPGEF2_ENST00000504604.1_Intron	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2						adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		tgtgtgtgtgtgcgcgcgcgc	0.423																																																	0								ENSG00000216089																																			AC105316.1	SO:0001627	intron_variant	0			-	Clone_based_ensembl_gene	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.61-8588T>C	4.37:g.160216906T>C		Somatic	0	36	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	D3DP27	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000264431.4	37	NULL	CCDS43277.1	4																																																																																			-	-		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216089	protein_coding	OTTHUMT00000364980.2	T	NM_014247	rs10024829		160216906	+1	no_errors	ENST00000401270	ensembl	human	novel	74_37	rna	SNP	0.000	C
WDR54	84058	genome.wustl.edu	37	2	74648876	74648876	+	5'UTR	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr2:74648876C>T	ENST00000348227.4	+	0	20				WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_5'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGCGTCGTCTCTATGGTGGCG	0.706																																																	0								ENSG00000005448																																			WDR54	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.-69C>T	2.37:g.74648876C>T		Somatic	0	145	0.00		0.5349292515368972	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	130	23.53	D6W5I3|Q53H85|Q86V45	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000348227.4	37	NULL	CCDS1940.1	2																																																																																			-	-		0.706	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	protein_coding	OTTHUMT00000252213.1	C	NM_032118	-		74648876	+1	no_errors	ENST00000461531	ensembl	human	known	74_37	rna	SNP	1.000	T
DEAF1	10522	genome.wustl.edu	37	11	688025	688025	+	Missense_Mutation	SNP	C	C	T	rs371722695		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:688025C>T	ENST00000382409.3	-	4	1034	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_ENST00000338675.6_Missense_Mutation_p.G184S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	184					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547																																																	0								ENSG00000177030	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	54.0	62.0	60.0		550	4.8	1.0	11		60	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	184/566	688025	1,13005	2203	4300	6503	DEAF1	SO:0001583	missense	0			-	HGNC	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.550G>A	11.37:g.688025C>T	ENSP00000371846:p.Gly184Ser	Somatic	0	54	0.00		0.5349292515368972	7	83.72	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.G184S	ENST00000382409.3	37	c.550	CCDS31327.1	11	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531880	0.64972	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.63417	-0.04	4.77	4.77	0.60923	.	0.266086	0.31071	N	0.008302	T	0.49287	0.1548	N	0.19112	0.55	0.45995	D	0.998808	D	0.60575	0.988	P	0.46275	0.51	T	0.46076	-0.9217	10	0.07813	T	0.8	-38.5118	16.9509	0.86245	0.0:1.0:0.0:0.0	.	184	O75398	DEAF1_HUMAN	S	184;184;170;107	ENSP00000371846:G184S	ENSP00000341902:G184S	G	-	1	0	DEAF1	678025	0.998000	0.40836	0.971000	0.41717	0.944000	0.59088	4.618000	0.61211	2.349000	0.79799	0.655000	0.94253	GGC	-	NULL		0.547	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	protein_coding	OTTHUMT00000383614.3	C	NM_021008	-		688025	-1	no_errors	ENST00000382409	ensembl	human	known	74_37	missense	SNP	0.995	T
COL1A1	1277	genome.wustl.edu	37	17	48264176	48264176	+	Silent	SNP	G	G	A			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:48264176G>A	ENST00000225964.5	-	48	3757	c.3639C>T	c.(3637-3639)ggC>ggT	p.G1213G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1213	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGTAGTAGCGGCCACCATCGT	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0								ENSG00000108821						119.0	107.0	111.0					17																	48264176		2203	4300	6503	COL1A1	SO:0001819	synonymous_variant	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3639C>T	17.37:g.48264176G>A		Somatic	0	51	0.00		0.5349292515368972	444	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1213	ENST00000225964.5	37	c.3639	CCDS11561.1	17																																																																																			-	NULL		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	G		-		48264176	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	silent	SNP	1.000	A
SLC6A20	54716	genome.wustl.edu	37	3	45801483	45801483	+	Silent	SNP	G	G	T	rs551737950		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:45801483G>T	ENST00000358525.4	-	10	1610	c.1495C>A	c.(1495-1497)Cga>Aga	p.R499R	SLC6A20_ENST00000456124.2_Silent_p.R499R|SLC6A20_ENST00000353278.4_Silent_p.R462R|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	499					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCACAGCTCGGCCGGTCATG	0.542																																																	0								ENSG00000163817						109.0	112.0	111.0					3																	45801483		2203	4300	6503	SLC6A20	SO:0001819	synonymous_variant	0			-	HGNC	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1495C>A	3.37:g.45801483G>T		Somatic	0	59	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R499	ENST00000358525.4	37	c.1495	CCDS43077.1	3																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.542	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	protein_coding	OTTHUMT00000257318.3	G	NM_020208	-		45801483	-1	no_errors	ENST00000358525	ensembl	human	known	74_37	silent	SNP	0.437	T
C19orf25	148223	genome.wustl.edu	37	19	1478412	1478417	+	Intron	DEL	TTTTGT	TTTTGT	-	rs374754853|rs368026378|rs202054017|rs138052264		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	TTTTGT	TTTTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr19:1478412_1478417delTTTTGT	ENST00000436106.2	-	2	526				C19orf25_ENST00000588871.1_Intron|C19orf25_ENST00000592872.1_Intron|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000427685.2_Intron|C19orf25_ENST00000585675.1_Intron|C19orf25_ENST00000586564.1_Intron|C19orf25_ENST00000591027.1_Intron|C19orf25_ENST00000588849.1_Intron			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		gctaactctgttttgtttttgttttt	0.495																																																	0								ENSG00000119559																																			C19orf25	SO:0001627	intron_variant	0				HGNC	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092	ENST00000436106.2:c.130+355ACAAAA>-	19.37:g.1478418_1478423delTTTTGT		Somatic	NA	NA	NA		0.5349292515368972	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KQN6|Q8N9R7|Q8WV94	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000436106.2	37	NULL	CCDS45898.1	19																																																																																			-	-		0.495	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C19orf25	protein_coding	OTTHUMT00000449694.1	TTTTGT	NM_152482			1478417	-1	no_errors	ENST00000592605	ensembl	human	known	74_37	rna	DEL	0.425:0.418:0.410:0.402:0.395:0.387	-
CPAMD8	27151	genome.wustl.edu	37	19	17111251	17111251	+	Silent	SNP	C	C	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr19:17111251C>T	ENST00000443236.1	-	10	1012	c.981G>A	c.(979-981)gtG>gtA	p.V327V	CPAMD8_ENST00000388925.4_Silent_p.V280V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	280						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGGGCGTCCCACCTCGTGGC	0.502																																																	0								ENSG00000160111						59.0	60.0	59.0					19																	17111251		1921	4125	6046	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.981G>A	19.37:g.17111251C>T		Somatic	0	84	0.00		0.5349292515368972	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	73	17.05	Q8NC09|Q9ULD7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.V327	ENST00000443236.1	37	c.981	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	-	1.216	-0.628376	0.03610	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5937	0.12319	0.2172:0.6609:0.0:0.1218	.	.	.	.	X	338	.	.	W	-	2	0	CPAMD8	16972251	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	1.052000	0.30429	1.178000	0.42870	0.455000	0.32223	TGG	-	NULL		0.502	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	C	NM_015692	-		17111251	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	1.000	T
STARD9	57519	genome.wustl.edu	37	15	43010667	43010667	+	Silent	SNP	G	G	T			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr15:43010667G>T	ENST00000290607.7	+	31	13854	c.13797G>T	c.(13795-13797)ctG>ctT	p.L4599L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	4599	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGTGCGCACTGAAGCAGCCAC	0.552																																																	0								ENSG00000159433						94.0	92.0	93.0					15																	43010667		692	1590	2282	STARD9	SO:0001819	synonymous_variant	0			-	HGNC	AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.13797G>T	15.37:g.43010667G>T		Somatic	0	47	0.00		0.5349292515368972	10	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L4599	ENST00000290607.7	37	c.13797	CCDS53935.1	15																																																																																			-	pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.552	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	protein_coding	OTTHUMT00000431094.1	G		-		43010667	+1	no_errors	ENST00000290607	ensembl	human	known	74_37	silent	SNP	0.995	T
