#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC108	255101	broad.mit.edu	37	2	219886587	219886587	+	Silent	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:219886587G>A	ENST00000341552.5	-	18	3128	c.3045C>T	c.(3043-3045)gtC>gtT	p.V1015V	CCDC108_ENST00000441968.1_Silent_p.V1015V|CCDC108_ENST00000453220.1_Silent_p.V1015V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1015						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCAGGAGGACAAGGAACC	0.607																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3043-3045)gtC>gtT		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							155.0	155.0	155.0					2																	219886587		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219886587G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3045C>T	2.37:g.219886587G>A			Somatic				CCDC108_uc002vjm.3_5'Flank	p.V1015V	NM_194302	NP_919278	WXS	Illumina GAIIx	Phase_I	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3129	-		Renal(207;0.0915)	1015					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3045C>T	CCDS2430.2																																																																																				0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		66	137	0	0	0	1	0	66	137				
PRKD1	5587	broad.mit.edu	37	14	30105538	30105538	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:30105538T>C	ENST00000331968.5	-	7	1377	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.Q391R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	383					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GTCTGGATCTTGCATCTCGCC	0.537																																						uc001wqh.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1147-1149)cAa>cGa		Homo sapiens protein kinase D1 (PRKD1), mRNA.							354.0	271.0	299.0					14																	30105538		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105538T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1148A>G	14.37:g.30105538T>C	ENSP00000333568:p.Gln383Arg		Somatic				MIR548AI_uc021rrv.1_Intron	p.Q383R	NM_002742	NP_002733	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	6	1329	-	Hepatocellular(127;0.0604)		383					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1148A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.383993	0.25031	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65549	-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.48995	0.1531	N	0.24115	0.695	0.49483	D	0.999797	B	0.06786	0.001	B	0.06405	0.002	T	0.42716	-0.9435	10	0.16896	T	0.51	-19.3577	16.8222	0.85835	0.0:0.0:0.0:1.0	.	383	Q15139	KPCD1_HUMAN	R	383;391	ENSP00000333568:Q383R;ENSP00000390535:Q391R	ENSP00000333568:Q383R	Q	-	2	0	PRKD1	29175289	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.474000	0.66781	2.371000	0.80710	0.533000	0.62120	CAA		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		102	120	0	0	0	1	0	102	120				
THAP5	168451	broad.mit.edu	37	7	108204990	108204990	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:108204990G>A	ENST00000415914.3	-	3	986	c.833C>T	c.(832-834)gCt>gTt	p.A278V	THAP5_ENST00000313516.5_Missense_Mutation_p.A236V|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	278					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGAATTTTCAGCAGGTACAAA	0.328																																						uc003vfm.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(832-834)gCt>gTt		Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA.							79.0	84.0	83.0					7																	108204990		2203	4300	6503	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204990G>A	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.833C>T	7.37:g.108204990G>A	ENSP00000400500:p.Ala278Val		Somatic				THAP5_uc003vfl.3_Missense_Mutation_p.A236V	p.A278V	NM_001130475	NP_872335	WXS	Illumina GAIIx	Phase_I	Q7Z6K1	THAP5_HUMAN			2	987	-			278						Missense_Mutation	SNP	ENST00000415914.3	37	c.833C>T	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047326	0.36085	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97209	-4.29;-2.81	4.6	2.78	0.32641	.	.	.	.	.	D	0.91640	0.7358	L	0.27053	0.805	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	D	0.83753	0.0210	8	.	.	.	.	5.9769	0.19385	0.1714:0.1558:0.6728:0.0	.	278	Q7Z6K1	THAP5_HUMAN	V	278;236	ENSP00000400500:A278V;ENSP00000322440:A236V	.	A	-	2	0	THAP5	107992226	0.998000	0.40836	0.688000	0.30117	0.958000	0.62258	2.165000	0.42396	0.489000	0.27749	-0.145000	0.13849	GCT		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		3	33	0	0	0	1	0	3	33				
ALCAM	214	broad.mit.edu	37	3	105252457	105252457	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:105252457G>A	ENST00000306107.5	+	5	970	c.470G>A	c.(469-471)tGc>tAc	p.C157Y	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.C106Y|ALCAM_ENST00000472644.2_Missense_Mutation_p.C157Y|ALCAM_ENST00000389927.4_5'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	157	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGGGTGACTGCATTTCAGAA	0.443																																						uc003dvx.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(469-471)tGc>tAc		Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.							146.0	129.0	135.0					3																	105252457		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105252457G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.470G>A	3.37:g.105252457G>A	ENSP00000305988:p.Cys157Tyr		Somatic				ALCAM_uc003dvw.2_Missense_Mutation_p.C157Y|ALCAM_uc003dvy.3_Missense_Mutation_p.C157Y|ALCAM_uc011bhh.1_Missense_Mutation_p.C106Y|ALCAM_uc010hpp.3_5'UTR	p.C157Y	NM_001627	NP_001618	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			4	1166	+			157			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.470G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252359	0.80135	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	D;D;D	0.99445	-5.91;-5.91;-5.91	5.84	5.84	0.93424	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.040151	0.85682	D	0.000000	D	0.99600	0.9855	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98459	1.0595	10	0.72032	D	0.01	-11.7467	20.1535	0.98095	0.0:0.0:1.0:0.0	.	157;157	B4DTU0;Q13740	.;CD166_HUMAN	Y	157;157;106	ENSP00000305988:C157Y;ENSP00000419236:C157Y;ENSP00000418213:C106Y	ENSP00000305988:C157Y	C	+	2	0	ALCAM	106735147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.702000	0.74628	2.764000	0.94973	0.650000	0.86243	TGC		0.443	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		45	49	0	0	0	1	0	45	49				
PLP1	5354	broad.mit.edu	37	X	103041545	103041545	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chrX:103041545G>A	ENST00000303958.2	+	3	489	c.343G>A	c.(343-345)Gca>Aca	p.A115T	PLP1_ENST00000361621.2_Missense_Mutation_p.A115T|PLP1_ENST00000418604.1_Missense_Mutation_p.A115T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	115					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGGCCTGAGCGCAACGGTAAC	0.582																																						uc010nov.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(343-345)Gca>Aca		Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.							118.0	104.0	109.0					X																	103041545		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041545G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.343G>A	X.37:g.103041545G>A	ENSP00000305152:p.Ala115Thr		Somatic				RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.A115T|PLP1_uc004elj.3_Missense_Mutation_p.A115T|PLP1_uc011msf.2_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.3_Missense_Mutation_p.A69T	p.A115T	NM_001128834	NP_001122306	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			3	623	+			115					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.343G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478890	0.63849	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000418604;ENST00000303958;ENST00000361621	D;D;D;D;D;D;D	0.99445	-5.56;-5.56;-5.56;-5.56;-5.91;-5.91;-5.56	5.78	5.78	0.91487	.	0.390705	0.30869	N	0.008707	D	0.98614	0.9536	L	0.39397	1.21	0.33890	D	0.637175	D;P;P;P;B	0.63046	0.992;0.944;0.94;0.944;0.006	P;B;P;B;B	0.52856	0.711;0.403;0.525;0.403;0.009	D	0.99961	1.1724	10	0.56958	D	0.05	-18.7842	11.2825	0.49203	0.0:0.0:0.8182:0.1818	.	60;115;115;115;115	B4DI30;A8K9L3;B1B1G6;P60201;P60201-2	.;.;.;MYPR_HUMAN;.	T	115	ENSP00000403335:A115T;ENSP00000399913:A115T;ENSP00000409802:A115T;ENSP00000413931:A115T;ENSP00000405750:A115T;ENSP00000305152:A115T;ENSP00000354860:A115T	ENSP00000305152:A115T	A	+	1	0	PLP1	102928201	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	4.285000	0.58989	2.417000	0.82017	0.600000	0.82982	GCA		0.582	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			4	171	0	0	0	1	0	4	171				
CKAP2L	150468	broad.mit.edu	37	2	113513632	113513632	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:113513632G>A	ENST00000302450.6	-	4	1394	c.1316C>T	c.(1315-1317)aCt>aTt	p.T439I	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.T274I	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	439						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAGCTTGAGTTTTGGGAGC	0.408																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1315-1317)aCt>aTt		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							218.0	221.0	220.0					2																	113513632		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513632G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1316C>T	2.37:g.113513632G>A	ENSP00000305204:p.Thr439Ile		Somatic				CKAP2L_uc002tif.2_Missense_Mutation_p.T28I|CKAP2L_uc010yxp.1_Missense_Mutation_p.T274I|CKAP2L_uc010yxq.1_Missense_Mutation_p.T274I	p.T439I	NM_152515	NP_689728	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			3	1395	-			439					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1316C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122489	0.37436	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24151	1.87;1.87	4.99	4.11	0.48088	.	0.192733	0.32918	N	0.005491	T	0.27169	0.0666	M	0.63428	1.95	0.26813	N	0.968964	B;B	0.22683	0.006;0.073	B;B	0.25884	0.015;0.064	T	0.23368	-1.0190	10	0.62326	D	0.03	-7.2416	9.8323	0.40950	0.0941:0.0:0.9059:0.0	.	28;439	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	I	274;439	ENSP00000438763:T274I;ENSP00000305204:T439I	ENSP00000305204:T439I	T	-	2	0	CKAP2L	113230103	1.000000	0.71417	0.950000	0.38849	0.897000	0.52465	1.191000	0.32138	1.500000	0.48636	0.573000	0.79308	ACT		0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		62	70	0	0	0	1	0	62	70				
LTF	4057	broad.mit.edu	37	3	46484938	46484938	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:46484938G>A	ENST00000231751.4	-	13	1944	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	LTF_ENST00000493056.1_5'Flank|LTF_ENST00000417439.1_Missense_Mutation_p.A548V|LTF_ENST00000426532.2_Missense_Mutation_p.A506V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	550	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCACCGGAAAGCCCCAGTGTA	0.532																																						uc003cpq.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1648-1650)gCt>gTt		Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	Pefloxacin(DB00487)						215.0	202.0	207.0					3																	46484938		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46484938G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1649C>T	3.37:g.46484938G>A	ENSP00000231751:p.Ala550Val		Somatic				LTF_uc003fzr.3_Missense_Mutation_p.A506V|LTF_uc010hjh.3_Missense_Mutation_p.A548V|LTF_uc003cpr.3_Missense_Mutation_p.A537V	p.A550V	NM_002343	NP_001186078	WXS	Illumina GAIIx	Phase_I	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	12	1890	-			550			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1649C>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699022	0.88830	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82764	-0.0296	10	0.87932	D	0	-16.4083	16.8854	0.86074	0.0:0.0:1.0:0.0	.	548;537;550	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	V	550;506;548;537	ENSP00000231751:A550V;ENSP00000405719:A506V;ENSP00000405546:A548V;ENSP00000397427:A537V	ENSP00000231751:A550V	A	-	2	0	LTF	46459942	1.000000	0.71417	0.995000	0.50966	0.629000	0.37895	6.833000	0.75334	2.668000	0.90789	0.591000	0.81541	GCT		0.532	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		80	108	0	0	0	1	0	80	108				
ATP2B4	493	broad.mit.edu	37	1	203680123	203680123	+	Missense_Mutation	SNP	A	A	G	rs530220412		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr1:203680123A>G	ENST00000357681.5	+	12	3041	c.1918A>G	c.(1918-1920)Ata>Gta	p.I640V	ATP2B4_ENST00000391954.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I640V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I628V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I640V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	640					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACTATCTGCATAGCTTACCG	0.532																																						uc001gzw.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1918-1920)Ata>Gta		Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.							116.0	96.0	103.0					1																	203680123		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680123A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1918A>G	1.37:g.203680123A>G	ENSP00000350310:p.Ile640Val		Somatic				ATP2B4_uc001gzv.3_Missense_Mutation_p.I640V|ATP2B4_uc009xaq.3_Missense_Mutation_p.I640V	p.I640V	NM_001684	NP_001675	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2815	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		640					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1918A>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383674	0.25031	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.33	-2.64	0.06114	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.672540	0.13422	N	0.389072	T	0.37625	0.1010	N	0.10664	0.02	0.28344	N	0.9212	B;B;B	0.18013	0.025;0.002;0.025	B;B;B	0.16289	0.015;0.014;0.015	T	0.25984	-1.0116	10	0.18710	T	0.47	-5.4071	7.9587	0.30057	0.3253:0.474:0.0:0.2008	.	640;640;640	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	640;640;628;640;640	ENSP00000350310:I640V;ENSP00000356187:I640V;ENSP00000356188:I628V;ENSP00000375816:I640V;ENSP00000340930:I640V	ENSP00000340930:I640V	I	+	1	0	ATP2B4	201946746	0.713000	0.27926	0.846000	0.33378	0.990000	0.78478	0.040000	0.13905	-0.249000	0.09569	-0.340000	0.08031	ATA		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		42	82	0	0	0	1	0	42	82				
LDHA	3939	broad.mit.edu	37	11	18427040	18427040	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr11:18427040T>C	ENST00000422447.3	+	7	1028	c.755T>C	c.(754-756)aTt>aCt	p.I252T	LDHA_ENST00000430553.2_Missense_Mutation_p.I194T|LDHA_ENST00000542179.1_Missense_Mutation_p.I252T|LDHA_ENST00000379412.5_Missense_Mutation_p.I252T|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000540430.1_Missense_Mutation_p.I281T|LDHA_ENST00000227157.4_Intron|AC084117.3_ENST00000496975.2_RNA	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	252					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TCCTGGGCTATTGGACTCTCT	0.443																																						uc010rdd.2																			0		p.Y281C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(841-843)aTt>aCt		Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.	NADH(DB00157)						117.0	117.0	117.0					11																	18427040		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18427040T>C	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.755T>C	11.37:g.18427040T>C	ENSP00000395337:p.Ile252Thr		Somatic				LDHA_uc001mok.3_Missense_Mutation_p.I252T|LDHA_uc009yho.2_Missense_Mutation_p.I79T|LDHA_uc001mol.3_Intron|LDHA_uc010rdc.1_Missense_Mutation_p.I194T|LDHA_uc021qep.1_Intron	p.I281T	NM_001165414	NP_005557	WXS	Illumina GAIIx	Phase_I	P00338	LDHA_HUMAN			6	1124	+			252					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.842T>C	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745808	0.69418	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.12	5.12	0.69794	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.93898	3.47	0.80722	D	1	P;B;B;B	0.45428	0.858;0.07;0.02;0.352	P;B;B;P	0.59171	0.853;0.317;0.069;0.548	D	0.88705	0.3218	10	0.87932	D	0	-3.4515	15.205	0.73173	0.0:0.0:0.0:1.0	.	281;194;225;252	B7Z5E3;B4DKQ2;B4DJI1;P00338	.;.;.;LDHA_HUMAN	T	252;194;224;225;281;252;252	ENSP00000395337:I252T;ENSP00000406172:I194T;ENSP00000445175:I281T;ENSP00000368722:I252T;ENSP00000445331:I252T	ENSP00000368722:I252T	I	+	2	0	LDHA	18383616	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.810000	0.86072	2.056000	0.61249	0.374000	0.22700	ATT		0.443	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	72	0	0	0	1	0	4	72				
TRIO	7204	broad.mit.edu	37	5	14297305	14297305	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr5:14297305C>T	ENST00000344204.4	+	7	1325	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	TRIO_ENST00000509967.2_Missense_Mutation_p.A385V|TRIO_ENST00000537187.1_Missense_Mutation_p.A434V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	434					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGGCGTTTGCGGCAGCCCTG	0.602																																						uc003jff.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1300-1302)gCg>gTg		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							84.0	71.0	75.0					5																	14297305		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	g.chr5:14297305C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1301C>T	5.37:g.14297305C>T	ENSP00000339299:p.Ala434Val		Somatic				TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.A385V|TRIO_uc003jfh.1_Missense_Mutation_p.A83V	p.A434V	NM_007118	NP_009049	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			6	1307	+	Lung NSC(4;0.000742)		434					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1301C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347700	0.82022	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.50813	0.73;0.73;0.73;0.96	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.972;0.995	T	0.64643	-0.6359	10	0.40728	T	0.16	.	18.7327	0.91741	0.0:1.0:0.0:0.0	.	385;434;434	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	434;434;385;121	ENSP00000339299:A434V;ENSP00000446348:A434V;ENSP00000445592:A385V;ENSP00000426342:A121V	ENSP00000339299:A434V	A	+	2	0	TRIO	14350305	1.000000	0.71417	0.335000	0.25508	0.962000	0.63368	7.818000	0.86416	2.425000	0.82216	0.462000	0.41574	GCG		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	46	0	0	0	1	0	3	46				
SRSF5	6430	broad.mit.edu	37	14	70237718	70237718	+	Silent	SNP	T	T	G			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:70237718T>G	ENST00000553521.1	+	8	1900	c.447T>G	c.(445-447)gtT>gtG	p.V149V	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Silent_p.V149V|SRSF5_ENST00000394366.2_Silent_p.V149V|SRSF5_ENST00000553635.1_Silent_p.V146V			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TTAGGGTGGTTGAGTTTGCCT	0.358																																						uc001xll.3																			0				large_intestine(1)|liver(1)	2						c.(445-447)gtT>gtG		Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.							127.0	123.0	124.0					14																	70237718		2203	4300	6503	SO:0001819	synonymous_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding	g.chr14:70237718T>G	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.447T>G	14.37:g.70237718T>G			Somatic				SRSF5_uc001xlo.3_Silent_p.V149V|SRSF5_uc001xlp.3_Silent_p.V149V	p.V149V	NM_006925	NP_008856	WXS	Illumina GAIIx	Phase_I	Q13243	SRSF5_HUMAN			7	1898	+			149			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	ENST00000553521.1	37	c.447T>G	CCDS32109.1																																																																																				0.358	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		6	24	0	0	0	1	0	6	24				
PTPRS	5802	broad.mit.edu	37	19	5206842	5206842	+	Missense_Mutation	SNP	C	C	G	rs199713079		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr19:5206842C>G	ENST00000587303.1	-	37	5889	c.5790G>C	c.(5788-5790)caG>caC	p.Q1930H	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1892H|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1910H|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1892H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1483H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1930H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1483H|PTPRS_ENST00000372412.4_Missense_Mutation_p.Q1931H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1930	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGTAACAGAACTGGTACTCAT	0.612																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5788-5790)caG>caC		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							144.0	122.0	129.0					19																	5206842		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5206842C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5790G>C	19.37:g.5206842C>G	ENSP00000467537:p.Gln1930His		Somatic				PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Missense_Mutation_p.Q1472H|PTPRS_uc002mbw.3_Missense_Mutation_p.Q1892H|PTPRS_uc002mbx.3_Missense_Mutation_p.Q1487H|PTPRS_uc002mby.3_Missense_Mutation_p.Q1483H	p.Q1930H	NM_002850	NP_002841	WXS	Illumina GAIIx	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	37	6024	-			1930			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5790G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760373	0.31137	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000007	D	0.84051	0.5387	N	0.21448	0.665	0.58432	D	0.999997	D;B;D;B;D	0.89917	1.0;0.302;0.999;0.417;0.999	D;B;D;B;D	0.91635	0.999;0.116;0.998;0.379;0.999	D	0.85336	0.1093	10	0.52906	T	0.07	.	13.9299	0.63989	0.0:1.0:0.0:0.0	.	1512;1483;1487;1892;1930	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	H	1931;1930;1930;1921;1910;1892;1512;1487;1483	ENSP00000361489:Q1931H;ENSP00000349932:Q1930H;ENSP00000262963:Q1910H;ENSP00000269907:Q1892H;ENSP00000327313:Q1483H	ENSP00000262963:Q1910H	Q	-	3	2	PTPRS	5157842	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.105000	0.57797	1.482000	0.48325	0.471000	0.43371	CAG		0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	99	0	0	0	1	0	7	99				
ZNF713	349075	broad.mit.edu	37	7	56006963	56006963	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:56006963G>A	ENST00000429591.2	+	4	595	c.557G>A	c.(556-558)aGa>aAa	p.R186K	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGCAGCAGAGAATTCCTTCC	0.368																																						uc003tra.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(595-597)aGa>aAa		Homo sapiens zinc finger protein 713 (ZNF713), mRNA.							51.0	53.0	52.0					7																	56006963		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006963G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.557G>A	7.37:g.56006963G>A	ENSP00000416662:p.Arg186Lys		Somatic				ZNF713_uc003trc.1_Missense_Mutation_p.R186K	p.R199K	NM_182633	NP_872439	WXS	Illumina GAIIx	Phase_I	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1403	+	Breast(14;0.214)		186						Missense_Mutation	SNP	ENST00000429591.2	37	c.596G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644724	0.03531	.	.	ENSG00000178665	ENST00000429591	T	0.06142	3.34	3.78	0.963	0.19649	.	0.413435	0.18199	N	0.148580	T	0.05960	0.0155	L	0.56769	1.78	0.21933	N	0.999462	B	0.32071	0.355	B	0.29267	0.1	T	0.36286	-0.9754	10	0.22109	T	0.4	.	5.9854	0.19432	0.4596:0.0:0.5404:0.0	.	186	Q8N859	ZN713_HUMAN	K	186	ENSP00000416662:R186K	ENSP00000416662:R186K	R	+	2	0	ZNF713	55974457	0.993000	0.37304	0.177000	0.23020	0.034000	0.12701	2.044000	0.41241	0.195000	0.20347	0.591000	0.81541	AGA		0.368	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		13	28	0	0	0	1	0	13	28				
CATSPERB	79820	broad.mit.edu	37	14	92088170	92088170	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:92088170G>A	ENST00000256343.3	-	19	2198	c.2042C>T	c.(2041-2043)gCt>gTt	p.A681V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	681					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGGCATGGTAGCAATGGCTAA	0.393																																						uc001xzs.1																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2041-2043)gCt>gTt		Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.							118.0	104.0	109.0					14																	92088170		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92088170G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2042C>T	14.37:g.92088170G>A	ENSP00000256343:p.Ala681Val		Somatic				CATSPERB_uc010aub.1_Missense_Mutation_p.A203V	p.A681V	NM_024764	NP_079040	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			18	2182	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	681					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2042C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041442	0.75732	.	.	ENSG00000133962	ENST00000256343	T	0.57595	0.39	5.43	5.43	0.79202	.	0.257129	0.27280	N	0.020099	T	0.69593	0.3128	M	0.62723	1.935	0.24123	N	0.995793	D	0.76494	0.999	D	0.71656	0.974	T	0.64063	-0.6495	10	0.72032	D	0.01	-17.8103	16.1571	0.81675	0.0:0.0:1.0:0.0	.	681	Q9H7T0	CTSRB_HUMAN	V	681	ENSP00000256343:A681V	ENSP00000256343:A681V	A	-	2	0	CATSPERB	91157923	0.969000	0.33509	0.088000	0.20740	0.059000	0.15707	5.403000	0.66338	2.541000	0.85698	0.591000	0.81541	GCT		0.393	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	47	0	0	0	1	0	3	47				
MYH2	4620	broad.mit.edu	37	17	10432293	10432293	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr17:10432293C>A	ENST00000245503.5	-	27	3842	c.3458G>T	c.(3457-3459)aGc>aTc	p.S1153I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1153					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCCTCTCGCTGATCTCCTC	0.617																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3457-3459)aGc>aTc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							70.0	81.0	78.0					17																	10432293		2202	4298	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432293C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3458G>T	17.37:g.10432293C>A	ENSP00000245503:p.Ser1153Ile		Somatic				AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1153I|MYH2_uc010coj.3_Intron	p.S1153I	NM_001100112	NP_060004	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			26	3586	-			1153					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3458G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442800	0.83993	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.46442	U	0.000283	D	0.94345	0.8182	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95990	0.8985	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1153	Q9UKX2	MYH2_HUMAN	I	1153	ENSP00000245503:S1153I;ENSP00000380367:S1153I	ENSP00000245503:S1153I	S	-	2	0	MYH2	10373018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	AGC		0.617	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		90	96	0	0	0	1	0	90	96				
METTL21B	25895	broad.mit.edu	37	12	58176601	58176601	+	IGR	SNP	C	C	T	rs372337739		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr12:58176601C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L|TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000454289.3_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sqh.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(16-18)tCg>tTg		Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	35.0	32.0	33.0		17,17,17,17	5.0	0.1	12		33	1,8575		0,1,4287	no	missense,missense,missense,missense	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	145,145,145,145	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,benign,benign	6/168,6/347,6/216,6/326	58176601	1,12979	2202	4288	6490	SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58176601C>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176601C>T			Somatic	OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	TSFM_uc021qzq.1_Missense_Mutation_p.S6L|TSFM_uc001sqi.3_Missense_Mutation_p.S6L|TSFM_uc010ssf.2_Missense_Mutation_p.S6L|TSFM_uc010sse.2_5'UTR	p.S6L	NM_001172696	NP_001166167	WXS	Illumina GAIIx	Phase_I	P43897	EFTS_HUMAN			0	74	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		6					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.17C>T	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166078	0.38217	0.0	1.17E-4	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	4.99	0.66335	.	0.803958	0.11438	N	0.564111	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P;B;P	0.40083	0.702;0.382;0.593	B;B;B	0.32149	0.141;0.037;0.063	T	0.39781	-0.9597	9	0.52906	T	0.07	.	13.6139	0.62097	0.0:1.0:0.0:0.0	.	6;6;6	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	L	6	.	ENSP00000313877:S6L	S	+	2	0	TSFM	56462868	0.043000	0.20138	0.073000	0.20177	0.014000	0.08584	1.897000	0.39799	2.589000	0.87451	0.462000	0.41574	TCG		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		4	9	0	0	0	1	0	4	9				
GNL1	2794	broad.mit.edu	37	6	30513930	30513931	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr6:30513930_30513931delAT	ENST00000376621.3	-	12	2712_2713	c.1742_1743delAT	c.(1741-1743)gatfs	p.D581fs		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	581	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTctcctcatccccttctcc	0.639																																						uc003nqh.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1741-1743)gatfs		Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.																																				SO:0001589	frameshift_variant	2794				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30513930_30513931delAT		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1742_1743delAT	6.37:g.30513930_30513931delAT	ENSP00000365806:p.Asp581fs		Somatic				GNL1_uc011dmi.2_Frame_Shift_Del_p.D378fs|GNL1_uc011dmj.2_Frame_Shift_Del_p.D579fs|GNL1_uc011dmk.2_Frame_Shift_Del_p.D236fs	p.D581fs	NM_005275	NP_005266	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			11	3133_3134	-			581			Asp/Glu-rich (highly acidic).		B0S838|Q96CT5	Frame_Shift_Del	DEL	ENST00000376621.3	37	c.1742_1743delAT	CCDS4680.1																																																																																				0.639	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			2	4						2	4	---	---	---	---
