#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
MYO5A	4644	broad.mit.edu	37	15	52605985	52605985	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:52605985G>A	ENST00000399231.3	-	41	5719	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1826					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGTGACAGGAAAGATGTGT	0.473																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5476-5478)Cct>Tct		myosin VA (heavy chain 12, myoxin)							121.0	119.0	120.0					15																	52605985		1885	4121	6006	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52605985G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5476C>T	15.37:g.52605985G>A	ENSP00000382177:p.Pro1826Ser					MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S	p.P1826S	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	41	5719	-			1826					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5476C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956632	0.73902	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.84683	2.71	0.80722	D	1	P;P;B	0.47106	0.89;0.881;0.11	B;P;B	0.45071	0.408;0.468;0.029	D	0.91973	0.5588	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:0.0:1.0:0.0	.	556;1826;1799	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	S	1826;1333;1823;1799;1851;1429;1824	ENSP00000382177:P1826S;ENSP00000382179:P1823S;ENSP00000348693:P1799S;ENSP00000350945:P1851S;ENSP00000451109:P1824S	ENSP00000348693:P1799S	P	-	1	0	MYO5A	50393277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.724000	0.74747	2.860000	0.98153	0.655000	0.94253	CCT		0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	59	0	0	0	0.00024832	0	4	59				
RPL4	6124	broad.mit.edu	37	15	66792426	66792426	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:66792426G>A	ENST00000307961.6	-	9	1098	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.R242C|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000307979.7_5'Flank|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	336					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGTTCCGGCGCATGGTCTTT	0.448																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1006-1008)Cgc>Tgc		ribosomal protein L4							90.0	79.0	82.0					15																	66792426		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66792426G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1006C>T	15.37:g.66792426G>A	ENSP00000311430:p.Arg336Cys					RPL4_ENST00000568588.1_Missense_Mutation_p.R242C	p.R336C	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			9	1098	-			336					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1006C>T	CCDS10218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.400612|4.400612	0.83120|0.83120	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P	.|0.48089	.|0.905	.|P	.|0.47786	.|0.557	T|T	0.76372|0.76372	-0.2983|-0.2983	6|9	0.02654|0.87932	T|D	1|0	-4.5244|-4.5244	13.8452|13.8452	0.63463|0.63463	0.0:0.0:0.8473:0.1526|0.0:0.0:0.8473:0.1526	.|.	.|336	.|P36578	.|RL4_HUMAN	V|C	135|336	.|.	ENSP00000403183:A135V|ENSP00000311430:R336C	A|R	-|-	2|1	0|0	RPL4|RPL4	64579480|64579480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.242000|5.242000	0.65389|0.65389	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.448	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		12	70	0	0	0	0.00010058	0	12	70				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	9	0	0	0	0.000274275	0	6	9				
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	127	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(379-381)Tcc>Ccc		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296361A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.379T>C	17.37:g.39296361A>G	ENSP00000328270:p.Ser127Pro						p.S127P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	378	-			123			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.379T>C	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	3.733	-0.055148	0.07362	.	.	ENSG00000198090	ENST00000345847	T	0.00578	6.44	3.53	1.53	0.23141	.	.	.	.	.	T	0.00241	0.0007	N	0.00750	-1.22	0.80722	P	0.0	.	.	.	.	.	.	T	0.30001	-0.9993	6	0.02654	T	1	.	6.9259	0.24414	0.3255:0.0:0.6745:0.0	.	.	.	.	P	127	ENSP00000328270:S127P	ENSP00000328270:S127P	S	-	1	0	KRTAP4-6	36549887	0.016000	0.18221	0.000000	0.03702	0.559000	0.35586	0.236000	0.17967	-0.043000	0.13513	-0.124000	0.14976	TCC		0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			6	36	0	0	0	0.000157383	0	6	36				
ABCC10	89845	broad.mit.edu	37	6	43400340	43400340	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:43400340G>T	ENST00000372530.4	+	3	837	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.D165Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	208				D -> E (in Ref. 1; AAK39642). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGCCCGAGGATCAAGAACC	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(493-495)Gat>Tat		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							72.0	74.0	73.0					6																	43400340		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400340G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.622G>T	6.37:g.43400340G>T	ENSP00000361608:p.Asp208Tyr					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.D208Y	p.D165Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	852	+	all_lung(25;0.00536)		208					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.493G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213134	0.06140	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91577	-2.87;-2.84	5.54	1.59	0.23543	.	2.215120	0.01480	N	0.016644	T	0.64249	0.2581	N	0.08118	0	0.09310	N	1	P;B	0.39696	0.683;0.013	B;B	0.37198	0.243;0.015	T	0.68637	-0.5356	10	0.52906	T	0.07	-18.0169	1.2484	0.01977	0.3857:0.1843:0.2989:0.131	.	165;208	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	208;165	ENSP00000361608:D208Y;ENSP00000244533:D165Y	ENSP00000244533:D165Y	D	+	1	0	ABCC10	43508318	0.000000	0.05858	0.016000	0.15963	0.098000	0.18820	-0.051000	0.11885	0.294000	0.22547	-0.291000	0.09656	GAT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		18	135	1	0	1.99824e-07	0.000566183	1.27487e-05	18	135				
FRRS1	391059	broad.mit.edu	37	1	100181191	100181191	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:100181191G>T	ENST00000414213.1	-	12	1875	c.1274C>A	c.(1273-1275)aCc>aAc	p.T425N	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	425	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGCAATGCAGGTGAGGACAGT	0.373																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1273-1275)aCc>aAc		ferric-chelate reductase 1							108.0	104.0	105.0					1																	100181191		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181191G>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1274C>A	1.37:g.100181191G>T	ENSP00000393884:p.Thr425Asn					FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N	p.T425N			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	12	1875	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	425			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1274C>A		.	.	.	.	.	.	.	.	.	.	G	17.23	3.335587	0.60853	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80264	-0.1455	9	0.40728	T	0.16	-16.6896	18.2491	0.89997	0.0:0.0:1.0:0.0	.	425	Q6ZNA5-2	.	N	425	.	ENSP00000287474:T425N	T	-	2	0	FRRS1	99953779	1.000000	0.71417	0.995000	0.50966	0.288000	0.27193	6.546000	0.73887	2.718000	0.92993	0.460000	0.39030	ACC		0.373	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		23	59	1	0	2.41591e-17	0.000720815	1.65145e-15	23	59				
ATF6B	1388	broad.mit.edu	37	6	32083526	32083526	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:32083526T>C	ENST00000375203.3	-	18	2134	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	ATF6B_ENST00000375201.4_Missense_Mutation_p.N698S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	701					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGGATGATTGAGGTAGAG	0.612																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2092-2094)aAt>aGt		activating transcription factor 6 beta							65.0	74.0	71.0					6																	32083526		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083526T>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2102A>G	6.37:g.32083526T>C	ENSP00000364349:p.Asn701Ser					ATF6B_ENST00000375203.3_Missense_Mutation_p.N701S	p.N698S			Q99941	ATF6B_HUMAN			18	2138	-			701					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.2093A>G	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	t	6.719	0.501432	0.12822	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55052	0.54;1.28	5.32	2.67	0.31697	.	0.917755	0.08960	U	0.868870	T	0.11922	0.0290	N	0.08118	0	0.24507	N	0.994222	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.25779	-1.0122	10	0.28530	T	0.3	-3.3207	5.223	0.15379	0.0:0.2687:0.0:0.7313	.	698;701	Q99941-2;Q99941	.;ATF6B_HUMAN	S	701;698	ENSP00000364349:N701S;ENSP00000364347:N698S	ENSP00000364347:N698S	N	-	2	0	ATF6B	32191504	0.026000	0.19158	0.963000	0.40424	0.007000	0.05969	-0.084000	0.11268	0.985000	0.38656	0.456000	0.33151	AAT		0.612	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	113	0	0	0	0.000602214	0	5	113				
IFI16	3428	broad.mit.edu	37	1	158990261	158990261	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:158990261G>A	ENST00000295809.7	+	6	1358	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	368	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCTGCTTTCGACTTAGAAAA	0.358																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)cGa>cAa		interferon, gamma-inducible protein 16							79.0	90.0	86.0					1																	158990261		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990261G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1103G>A	1.37:g.158990261G>A	ENSP00000295809:p.Arg368Gln					IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q|IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q|IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q	p.R368Q			Q16666	IF16_HUMAN			6	1358	+	all_hematologic(112;0.0429)		368			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1103G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.485342|1.485342	0.26686|0.26686	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56	2.64|2.64	-1.94|-1.94	0.07571|0.07571	.|.	.|.	.|.	.|.	.|.	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36633	.|0.562;0.507	.|B;B	.|0.29524	.|0.103;0.063	T|T	0.43766|0.43766	-0.9371|-0.9371	5|9	.|0.08837	.|T	.|0.75	.|.	6.0461|6.0461	0.19760|0.19760	0.6069:0.0:0.3931:0.0|0.6069:0.0:0.3931:0.0	.|.	.|316;368	.|E7EPR3;Q16666-2	.|.;.	N|Q	189|368;368;368;368;316	.|ENSP00000295809:R368Q;ENSP00000342741:R368Q;ENSP00000357113:R368Q;ENSP00000357114:R368Q;ENSP00000394935:R316Q	.|ENSP00000295809:R368Q	D|R	+|+	1|2	0|0	IFI16|IFI16	157256885|157256885	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.010000|0.010000	0.13242|0.13242	-0.572000|-0.572000	0.06006|0.06006	-0.258000|-0.258000	0.10820|0.10820	GAC|CGA		0.358	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		42	43	0	0	0	0.000319135	0	42	43				
ALG13	79868	broad.mit.edu	37	X	110951444	110951444	+	Silent	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chrX:110951444T>C	ENST00000394780.3	+	4	585	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_ENST00000251943.4_Silent_p.A87A|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	191	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(571-573)gcT>gcC		ALG13, UDP-N-acetylglucosaminyltransferase subunit							133.0	111.0	118.0					X																	110951444		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951444T>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.573T>C	X.37:g.110951444T>C						ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.A87A	p.A191A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			4	585	+			191					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.573T>C	CCDS55477.1																																																																																				0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	84	0	0	0	0.00024832	0	3	84				
MYH1	4619	broad.mit.edu	37	17	10404034	10404034	+	Silent	SNP	A	A	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:10404034A>G	ENST00000226207.5	-	28	3868	c.3774T>C	c.(3772-3774)gaT>gaC	p.D1258D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1258					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTCAGTTGATCTTCTAGAG	0.468																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3772-3774)gaT>gaC		myosin, heavy chain 1, skeletal muscle, adult							162.0	142.0	148.0					17																	10404034		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404034A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3774T>C	17.37:g.10404034A>G						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.D1258D	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			28	3868	-			1258					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3774T>C	CCDS11155.1																																																																																				0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	90	0	0	0	0.00024832	0	4	90				
RRP12	23223	broad.mit.edu	37	10	99125892	99125892	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr10:99125892T>C	ENST00000370992.4	-	29	3601	c.3490A>G	c.(3490-3492)Aag>Gag	p.K1164E	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.K1103E|RRP12_ENST00000536831.1_Missense_Mutation_p.K882E|RRP12_ENST00000315563.6_Missense_Mutation_p.K1064E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1164						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTCCATCTTGTTGCCGTCT	0.597																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3490-3492)Aag>Gag		ribosomal RNA processing 12 homolog (S. cerevisiae)							213.0	164.0	181.0					10																	99125892		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99125892T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3490A>G	10.37:g.99125892T>C	ENSP00000360031:p.Lys1164Glu					RRP12_ENST00000315563.6_Missense_Mutation_p.K1064E|RRP12_ENST00000536831.1_Missense_Mutation_p.K882E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.K1103E	p.K1164E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	29	3601	-		Colorectal(252;0.162)	1164					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3490A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.404793	0.01155	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.51;1.49;1.51;1.49	5.14	1.21	0.21127	.	0.815472	0.11081	N	0.601849	T	0.11196	0.0273	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.28933	0.0;0.228;0.001;0.004	B;B;B;B	0.28011	0.001;0.085;0.003;0.002	T	0.31280	-0.9949	10	0.05351	T	0.99	-13.4232	5.9372	0.19173	0.0:0.141:0.3597:0.4993	.	1103;1064;882;1164	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	E	1164;1064;1103;882	ENSP00000360031:K1164E;ENSP00000324315:K1064E;ENSP00000414863:K1103E;ENSP00000446184:K882E	ENSP00000324315:K1064E	K	-	1	0	RRP12	99115882	0.059000	0.20769	0.550000	0.28217	0.062000	0.15995	1.490000	0.35573	0.382000	0.24878	0.454000	0.30748	AAG		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		5	151	0	0	0	3.59834e-05	0	5	151				
CCDC27	148870	broad.mit.edu	37	1	3677920	3677920	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:3677920G>A	ENST00000294600.2	+	5	871	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	263										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGAGAGGGAGGCCCTGAA	0.592																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(787-789)Gag>Aag		coiled-coil domain containing 27							80.0	76.0	78.0					1																	3677920		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3677920G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.787G>A	1.37:g.3677920G>A	ENSP00000294600:p.Glu263Lys						p.E263K	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	871	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	263					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.787G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452402	0.43531	.	.	ENSG00000162592	ENST00000294600	T	0.22134	1.97	3.75	3.75	0.43078	.	0.000000	0.43579	D	0.000551	T	0.32793	0.0841	L	0.32530	0.975	0.33532	D	0.59374	D	0.89917	1.0	D	0.83275	0.996	T	0.42632	-0.9440	10	0.56958	D	0.05	-36.4106	11.808	0.52167	0.0:0.0:1.0:0.0	.	263	Q2M243	CCD27_HUMAN	K	263	ENSP00000294600:E263K	ENSP00000294600:E263K	E	+	1	0	CCDC27	3667780	1.000000	0.71417	0.589000	0.28718	0.380000	0.30137	2.879000	0.48522	2.059000	0.61396	0.563000	0.77884	GAG		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	71	0	0	0	0.000157383	0	8	71				
MIA3	375056	broad.mit.edu	37	1	222825616	222825616	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:222825616A>C	ENST00000344922.5	+	13	4053	c.4028A>C	c.(4027-4029)aAg>aCg	p.K1343T	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T|MIA3_ENST00000340535.7_Missense_Mutation_p.K221T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1343					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGAAGGTGAAGTCTGAATGC	0.378																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4027-4029)aAg>aCg		melanoma inhibitory activity family, member 3							164.0	157.0	159.0					1																	222825616		1865	4100	5965	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222825616A>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4028A>C	1.37:g.222825616A>C	ENSP00000340900:p.Lys1343Thr					MIA3_ENST00000340535.7_Missense_Mutation_p.K221T|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T|MIA3_ENST00000344507.1_Intron	p.K1343T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	13	4053	+			1343					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4028A>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179133	0.78564	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71222	-0.55;-0.55;-0.55	5.89	4.77	0.60923	.	.	.	.	.	T	0.78824	0.4344	M	0.68593	2.085	0.37709	D	0.924511	D;D	0.69078	0.985;0.997	P;D	0.63957	0.842;0.92	T	0.80495	-0.1357	9	0.46703	T	0.11	.	9.0893	0.36601	0.8591:0.0:0.1409:0.0	.	221;1343	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1343;1343;221;221	ENSP00000340900:K1343T;ENSP00000340587:K1343T;ENSP00000345866:K221T	ENSP00000284471:K221T	K	+	2	0	MIA3	220892239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.525000	0.53502	1.056000	0.40484	0.533000	0.62120	AAG		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	103	0	0	0	0.000274275	0	6	103				
MUC16	94025	broad.mit.edu	37	19	9049003	9049003	+	Silent	SNP	T	T	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:9049003T>A	ENST00000397910.4	-	5	32831	c.32628A>T	c.(32626-32628)ggA>ggT	p.G10876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10878	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCACTACTCCTGGTACCT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32626-32628)ggA>ggT		mucin 16, cell surface associated							100.0	90.0	93.0					19																	9049003		1931	4130	6061	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049003T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32628A>T	19.37:g.9049003T>A							p.G10876G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32831	-			10878			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32628A>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	110	0	0	0	0.000151284	0	14	110				
BRINP3	339479	broad.mit.edu	37	1	190129933	190129933	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:190129933T>G	ENST00000367462.3	-	7	1280	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	BRINP3_ENST00000534846.1_Missense_Mutation_p.N248T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	350					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCGCTGAAAATTAGAATCCAT	0.353																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1048-1050)aAt>aCt									121.0	130.0	127.0					1																	190129933		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129933T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1049A>C	1.37:g.190129933T>G	ENSP00000356432:p.Asn350Thr					FAM5C_ENST00000534846.1_Missense_Mutation_p.N248T|FAM5C_ENST00000484105.1_5'UTR	p.N350T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1280	-	Prostate(682;0.198)		350					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1049A>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759336	0.31137	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.17370	2.54;2.28	5.75	3.39	0.38822	.	0.486595	0.22677	N	0.056995	T	0.12263	0.0298	L	0.38175	1.15	0.30360	N	0.783922	B;B	0.15141	0.008;0.012	B;B	0.14023	0.01;0.005	T	0.20706	-1.0267	10	0.20519	T	0.43	.	8.3029	0.32025	0.0:0.1718:0.0:0.8282	.	248;350	B7Z260;Q76B58	.;FAM5C_HUMAN	T	350;248	ENSP00000356432:N350T;ENSP00000438022:N248T	ENSP00000356432:N350T	N	-	2	0	FAM5C	188396556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	0.426000	0.26116	0.467000	0.42956	AAT		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		4	134	0	0	0	0.000602214	0	4	134				
TRPM5	29850	broad.mit.edu	37	11	2433483	2433483	+	Splice_Site	SNP	C	C	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr11:2433483C>G	ENST00000155858.6	-	16	2364	c.2356G>C	c.(2356-2358)Ggc>Cgc	p.G786R	TRPM5_ENST00000452833.1_Splice_Site_p.G788R|TRPM5_ENST00000533060.1_Splice_Site_p.G786R|TRPM5_ENST00000528453.1_Splice_Site_p.G786R	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGAAGAAGCCCTGGGAGGGA	0.562																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.e16-1		transient receptor potential cation channel, subfamily M, member 5							181.0	155.0	164.0					11																	2433483		2202	4299	6501	SO:0001630	splice_region_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433483C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2356-1G>C	11.37:g.2433483C>G						TRPM5_ENST00000533060.1_Splice_Site_p.G786_splice|TRPM5_ENST00000155858.6_Splice_Site_p.G786_splice|TRPM5_ENST00000528453.1_Splice_Site_p.G786_splice	p.G788_splice			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	16	2370	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	786						Splice_Site	SNP	ENST00000155858.6	37	c.2361_splice	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266868	0.40095	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.54	4.54	0.55810	Ion transport (1);	0.246814	0.41605	D	0.000859	T	0.70316	0.3210	M	0.65498	2.005	0.45867	D	0.998728	D;D;D	0.54207	0.957;0.957;0.965	P;P;P	0.60473	0.779;0.779;0.875	T	0.71217	-0.4658	10	0.49607	T	0.09	-33.8685	6.99	0.24750	0.0:0.7975:0.0:0.2025	.	786;788;786	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	780;786;788;786;786;786	ENSP00000434383:G780R;ENSP00000155858:G786R;ENSP00000387965:G788R;ENSP00000434121:G786R;ENSP00000436809:G786R	ENSP00000155858:G786R	G	-	1	0	TRPM5	2390059	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.137000	0.58010	2.257000	0.74773	0.591000	0.81541	GGC		0.562	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Missense_Mutation	46	101	0	0	0	0.000781405	0	46	101				
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1				BMS1 pseudogene 20																		CTGAATCATGCAGAATTTGAA	0.408																																						ENST00000426066.1																			0																																																			0							g.chr22:22661208C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661208C>T								NR_027293.1						0	300	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			13	27	0	0	0	0.000219431	0	13	27				
ERGIC2	51290	broad.mit.edu	37	12	29509405	29509405	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:29509405T>C	ENST00000360150.4	-	8	557	c.482A>G	c.(481-483)gAt>gGt	p.D161G		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	161					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.D161A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGATGAATCATCTTCTCTGTT	0.308																																						ENST00000360150.4																			1	Substitution - Missense(1)	p.D161A(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(481-483)gAt>gGt		ERGIC and golgi 2	Arsenic trioxide(DB01169)						121.0	117.0	118.0					12																	29509405		1814	4086	5900	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29509405T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.482A>G	12.37:g.29509405T>C	ENSP00000353270:p.Asp161Gly						p.D161G	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			8	557	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		161					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.482A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.495052|1.495052	0.26774|0.26774	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000546839;ENST00000550353;ENST00000552132|ENST00000551467	.|.	.|.	.|.	4.96|4.96	3.78|3.78	0.43462|0.43462	.|.	0.101889|.	0.64402|.	D|.	0.000003|.	T|T	0.62660|0.62660	0.2446|0.2446	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.19445|.	0.036|.	B|.	0.21917|.	0.037|.	T|T	0.59064|0.59064	-0.7524|-0.7524	9|5	0.19147|.	T|.	0.46|.	.|.	9.9219|9.9219	0.41470|0.41470	0.0:0.0:0.1718:0.8281|0.0:0.0:0.1718:0.8281	.|.	161|.	Q96RQ1|.	ERGI2_HUMAN|.	G|V	161;169;161;143;161|18	.|.	ENSP00000201023:D169G|.	D|M	-|-	2|1	0|0	ERGIC2|ERGIC2	29400672|29400672	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.937000|0.937000	0.57800|0.57800	5.444000|5.444000	0.66587|0.66587	0.710000|0.710000	0.31997|0.31997	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		4	76	0	0	0	0.00024832	0	4	76				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	49	0	0	0	3.59834e-05	0	5	49				
TCF3	6929	broad.mit.edu	37	19	1627410	1627410	+	Missense_Mutation	SNP	C	C	T	rs535762587		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:1627410C>T	ENST00000262965.5	-	6	658	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q|TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ATAGGCGCCCCGCTCACCGCT	0.617			T	"""PBX1, HLF, TFPT"""	pre B-ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		13811	0.001		0.0	False		,,,				2504	0.0					ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(313-315)cGg>cAg		transcription factor 3							20.0	24.0	22.0					19																	1627410		2187	4297	6484	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1627410C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.314G>A	19.37:g.1627410C>T	ENSP00000262965:p.Arg105Gln					TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q|TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q	p.R105Q	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		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)	6	658	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	105					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.314G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627406	0.66901	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.69175	-0.38;-0.38;-0.38	3.48	2.41	0.29592	.	0.071564	0.51477	D	0.000090	T	0.78704	0.4325	M	0.78916	2.43	0.36532	D	0.870774	D;D;D	0.89917	1.0;0.999;0.999	P;D;P	0.72625	0.902;0.978;0.836	T	0.82663	-0.0346	10	0.87932	D	0	-8.8555	9.929	0.41510	0.2048:0.7951:0.0:0.0	.	105;105;54	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	Q	105;105;105;54	ENSP00000262965:R105Q;ENSP00000344375:R105Q;ENSP00000378813:R54Q	ENSP00000262965:R105Q	R	-	2	0	TCF3	1578410	0.876000	0.30132	0.788000	0.31933	0.030000	0.12068	2.604000	0.46274	0.777000	0.33496	0.462000	0.41574	CGG		0.617	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		9	11	0	0	0	0.000442599	0	9	11				
HLA-V	352962	broad.mit.edu	37	6	29761774	29761774	+	RNA	SNP	G	G	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:29761774G>C	ENST00000457107.1	+	0	1000									major histocompatibility complex, class I, V (pseudogene)																		tcctcagcaggattggtgcaa	0.542																																						ENST00000457107.1																			0																																																			0							g.chr6:29761774G>C	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761774G>C														0	1000	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.542	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	10	0	0	0	6.4e-05	0	2	10				
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:154842331_154842333delTGC	ENST00000271915.4	-	1	423_425	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgttgctgctgctgct	0.67																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(106-111)caa>ca		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842331_154842333delTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108_110delGCA	1.37:g.154842340_154842342delTGC	ENSP00000271915:p.Gln41del						p.QQ40del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	423_425	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		40			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.108_110delGCA	CCDS30880.1																																																																																				0.670	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	6						3	6	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688968	60688969	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr2:60688968_60688969insG	ENST00000335712.6	-	4	1305_1306	c.1078_1079insC	c.(1078-1080)ctcfs	p.L360fs	BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L360fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	360	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGAGGAGGGAGGGGGGGCGTC	0.634			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1078-1080)cccfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688968_60688969insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1079dupC	2.37:g.60688975_60688975dupG	ENSP00000338774:p.Leu360fs					BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.P326fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.P360fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.P326fs	p.P360fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1305_1306	-			360			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.1078_1079insC	CCDS1862.1																																																																																				0.634	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	138						8	138	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		7	86						7	86	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679315	6679316	+	RNA	DEL	CC	CC	-	rs58387909|rs552404023	byFrequency	TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr8:6679315_6679316delCC	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		cacacacacaccccccacacac	0.406																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679315_6679316delCC	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679319_6679320delCC										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.406	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		5	7						5	7	---	---	---	---
TTC16	158248	broad.mit.edu	37	9	130487098	130487098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr9:130487098delT	ENST00000373289.3	+	9	1261	c.1181delT	c.(1180-1182)ctgfs	p.L394fs	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_5'UTR|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	394										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCTGGCGCTGAGCCCTCAG	0.682																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1180-1182)cgfs		tetratricopeptide repeat domain 16							13.0	12.0	12.0					9																	130487098		2188	4285	6473	SO:0001589	frameshift_variant	158248						binding	g.chr9:130487098delT	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1181delT	9.37:g.130487098delT	ENSP00000362386:p.Leu394fs					TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR	p.L394fs	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			9	1261	+			394					B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Del	DEL	ENST00000373289.3	37	c.1181delT	CCDS6875.1																																																																																				0.682	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	14						15	14	---	---	---	---
RP11-1028N23.4	0	broad.mit.edu	37	12	116030327	116030327	+	lincRNA	DEL	T	T	-			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:116030327delT	ENST00000551940.1	-	0	343																											ctccattttcTTTTTTTTTTT	0.473																																						ENST00000551940.1																			0																																																			0							g.chr12:116030327delT																													12.37:g.116030327delT														0	343	-									RNA	DEL	ENST00000551940.1	37																																																																																						0.473	RP11-1028N23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403876.1			2	4						2	4	---	---	---	---
