#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
SLC36A1	206358	broad.mit.edu	37	5	150867642	150867642	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150867642G>A	ENST00000243389.3	+	11	1481	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	SLC36A1_ENST00000520701.1_Missense_Mutation_p.E420K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	420					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	ACCGCTCCTGGAGGTCACCAC	0.627																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1258-1260)Gag>Aag		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						87.0	74.0	79.0					5																	150867642		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150867642G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1258G>A	5.37:g.150867642G>A	ENSP00000243389:p.Glu420Lys					SLC36A1_ENST00000520701.1_Missense_Mutation_p.E420K	p.E420K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1481	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	420					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1258G>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812789	0.90707	.	.	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.02280	4.36;4.36	5.53	5.53	0.82687	.	0.111191	0.64402	D	0.000013	T	0.19525	0.0469	M	0.92219	3.285	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.03000	-1.1084	10	0.87932	D	0	.	19.4587	0.94906	0.0:0.0:1.0:0.0	.	420	Q7Z2H8	S36A1_HUMAN	K	420	ENSP00000428140:E420K;ENSP00000243389:E420K	ENSP00000243389:E420K	E	+	1	0	SLC36A1	150847835	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.640000	0.61368	2.593000	0.87608	0.455000	0.32223	GAG		0.627	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		4	38	0	0	0	0.00024832	0	4	38				
MYL1	4632	broad.mit.edu	37	2	211179749	211179749	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:211179749G>A	ENST00000352451.3	-	1	165	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	6					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTTTCTTCACGTCTTTCTTTG	0.507																																						ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(16-18)gaC>gaT		myosin, light chain 1, alkali; skeletal, fast							86.0	121.0	109.0					2																	211179749		2201	4299	6500	SO:0001819	synonymous_variant	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211179749G>A		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.18C>T	2.37:g.211179749G>A							p.D6D	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	1	165	-			6					B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	ENST00000352451.3	37	c.18C>T	CCDS2390.1																																																																																				0.507	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		29	234	0	0	0	0.0024448	0	29	234				
AKT3	10000	broad.mit.edu	37	1	243736284	243736284	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:243736284T>C	ENST00000366539.1	-	9	963	c.763A>G	c.(763-765)Att>Gtt	p.I255V	AKT3_ENST00000366540.1_Missense_Mutation_p.I255V|AKT3_ENST00000336199.5_Missense_Mutation_p.I255V|AKT3_ENST00000263826.5_Missense_Mutation_p.I255V			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GCAGAGACAATTTCTGCACCA	0.413																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(763-765)Att>Gtt		v-akt murine thymoma viral oncogene homolog 3							76.0	74.0	75.0					1																	243736284		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736284T>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.763A>G	1.37:g.243736284T>C	ENSP00000355497:p.Ile255Val					AKT3_ENST00000336199.5_Missense_Mutation_p.I255V|AKT3_ENST00000263826.5_Missense_Mutation_p.I255V|AKT3_ENST00000366540.1_Missense_Mutation_p.I255V	p.I255V			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	963	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	255			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.763A>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133666	0.77662	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.28014	0.82	0.80722	D	1	D;D	0.63046	0.992;0.979	D;P	0.64595	0.927;0.88	T	0.22800	-1.0206	10	0.87932	D	0	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	255;255	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	V	255	ENSP00000336943:I255V;ENSP00000355498:I255V;ENSP00000355497:I255V;ENSP00000263826:I255V	ENSP00000263826:I255V	I	-	1	0	AKT3	241802907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	ATT		0.413	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		12	40	0	0	0	0.00400662	0	12	40				
VIP	7432	broad.mit.edu	37	6	153073384	153073384	+	Silent	SNP	G	G	A	rs535018056		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:153073384G>A	ENST00000367244.3	+	2	244	c.72G>A	c.(70-72)tcG>tcA	p.S24S	VIP_ENST00000367243.3_Silent_p.S24S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	24					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CACAGACTTCGGCATGGCCTC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17520	0.0		0.0	False		,,,				2504	0.001					ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.(70-72)tcG>tcA		vasoactive intestinal peptide							154.0	129.0	137.0					6																	153073384		2203	4300	6503	SO:0001819	synonymous_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153073384G>A		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.72G>A	6.37:g.153073384G>A						VIP_ENST00000367243.3_Silent_p.S24S	p.S24S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	2	244	+		Ovarian(120;0.0654)	24					Q5TCY8|Q5TCY9|Q96QK3	Silent	SNP	ENST00000367244.3	37	c.72G>A	CCDS5240.1																																																																																				0.463	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			8	44	0	0	0	0.000442599	0	8	44				
JPH3	57338	broad.mit.edu	37	16	87678468	87678468	+	Silent	SNP	G	G	A	rs150628659		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:87678468G>A	ENST00000284262.2	+	2	1229	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	329					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACCTTCCCGGACGGCACCA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		14529	0.0		0.0	False		,,,				2504	0.001					ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(985-987)ccG>ccA		junctophilin 3		G		0,4396		0,0,2198	53.0	63.0	59.0		987	-1.8	1.0	16	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JPH3	NM_020655.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		329/749	87678468	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678468G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.987G>A	16.37:g.87678468G>A							p.P329P	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1229	+			329					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.987G>A	CCDS10962.1																																																																																				0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			5	60	0	0	0	0.000602214	0	5	60				
MUC4	4585	broad.mit.edu	37	3	195517442	195517442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:195517442G>C	ENST00000463781.3	-	2	1468	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q337E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	342					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1009-1011)Caa>Gaa		mucin 4, cell surface associated							289.0	273.0	278.0					3																	195517442		2011	4183	6194	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517442G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1009C>G	3.37:g.195517442G>C	ENSP00000417498:p.Gln337Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q337E	p.Q337E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1468	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	342					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1009C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.173	-0.169633	0.06461	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.53640	0.61;0.65	3.48	-6.96	0.01622	.	.	.	.	.	T	0.22936	0.0554	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.001	T	0.38112	-0.9676	9	0.02654	T	1	.	6.7677	0.23576	0.0811:0.5613:0.1462:0.2114	.	337;342	E7ESK3;Q99102	.;MUC4_HUMAN	E	337;337;311	ENSP00000417498:Q337E;ENSP00000420243:Q337E	ENSP00000376209:Q311E	Q	-	1	0	MUC4	197001837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.462000	0.06704	-1.904000	0.01092	-1.052000	0.02337	CAA		0.458	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		17	215	0	0	0	0.00074312	0	17	215				
COASY	80347	broad.mit.edu	37	17	40714773	40714773	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:40714773A>G	ENST00000393818.2	+	1	589	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	COASY_ENST00000420359.1_Missense_Mutation_p.M45V|COASY_ENST00000590958.1_Missense_Mutation_p.M74V|COASY_ENST00000449624.1_Intron|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Missense_Mutation_p.M45V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	45					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GCAGCCGGGCATGAGCCTGGA	0.662																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(133-135)Atg>Gtg		CoA synthase							38.0	48.0	44.0					17																	40714773		2200	4296	6496	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714773A>G	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.133A>G	17.37:g.40714773A>G	ENSP00000377406:p.Met45Val					COASY_ENST00000590958.1_Missense_Mutation_p.M74V|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.M45V|COASY_ENST00000421097.2_Missense_Mutation_p.M45V	p.M45V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	589	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	45					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.133A>G	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505819	0.44558	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.28069	1.63;1.63	5.84	-0.563	0.11778	.	0.275753	0.37530	N	0.002049	T	0.19685	0.0473	N	0.14661	0.345	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.11329	0.006;0.003	T	0.03566	-1.1024	10	0.32370	T	0.25	-11.3108	19.3898	0.94576	0.1737:0.8263:0.0:0.0	.	74;45	Q13057-2;Q13057	.;COASY_HUMAN	V	74;45;45;45	ENSP00000413338:M45V;ENSP00000377406:M45V	ENSP00000377406:M45V	M	+	1	0	COASY	37968299	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	0.999000	0.29757	-0.440000	0.07211	0.459000	0.35465	ATG		0.662	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		5	86	0	0	0	0.000602214	0	5	86				
ANKZF1	55139	broad.mit.edu	37	2	220098566	220098566	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:220098566G>A	ENST00000323348.5	+	8	1123	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107R|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCAAAGGGGGGATCCCCG	0.597																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(949-951)Ggg>Agg		ankyrin repeat and zinc finger domain containing 1							59.0	63.0	62.0					2																	220098566		1933	4129	6062	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098566G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.949G>A	2.37:g.220098566G>A	ENSP00000321617:p.Gly317Arg					ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107R|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317R	p.G317R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1123	+		Renal(207;0.0474)	317					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.949G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725589	0.48833	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.25579	1.79;1.99;1.79	5.13	3.32	0.38043	.	0.282037	0.42420	D	0.000709	T	0.21801	0.0525	L	0.46157	1.445	0.29866	N	0.827241	B;P;B	0.50443	0.016;0.935;0.02	B;B;B	0.42882	0.022;0.401;0.01	T	0.09058	-1.0692	10	0.36615	T	0.2	-2.2372	8.2877	0.31939	0.3022:0.0:0.6978:0.0	.	261;107;317	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	R	317;107;317	ENSP00000321617:G317R;ENSP00000386815:G107R;ENSP00000386337:G317R	ENSP00000321617:G317R	G	+	1	0	ANKZF1	219806810	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	3.444000	0.52914	0.727000	0.32360	-0.136000	0.14681	GGG		0.597	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		7	60	0	0	0	0.00198382	0	7	60				
KIAA1462	57608	broad.mit.edu	37	10	30315782	30315782	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:30315782G>A	ENST00000375377.1	-	3	3396	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1099					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGGCAGGAGGGACTCCACC	0.627																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3295-3297)Ctc>Ttc		KIAA1462							71.0	73.0	72.0					10																	30315782		1947	4161	6108	SO:0001583	missense	57608							g.chr10:30315782G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3295C>T	10.37:g.30315782G>A	ENSP00000364526:p.Leu1099Phe						p.L1099F	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3396	-			1099					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3295C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054937	0.75960	.	.	ENSG00000165757	ENST00000375377	T	0.29397	1.57	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000004	T	0.56062	0.1960	M	0.68952	2.095	0.49051	D	0.999748	D	0.89917	1.0	D	0.97110	1.0	T	0.60357	-0.7279	10	0.87932	D	0	-24.3426	18.442	0.90670	0.0:0.0:1.0:0.0	.	1099	Q9P266	K1462_HUMAN	F	1099	ENSP00000364526:L1099F	ENSP00000364526:L1099F	L	-	1	0	KIAA1462	30355788	.	.	0.996000	0.52242	0.751000	0.42716	.	.	2.428000	0.82296	0.462000	0.41574	CTC		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		9	105	0	0	0	0.000442599	0	9	105				
SPRYD3	84926	broad.mit.edu	37	12	53471030	53471030	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:53471030G>T	ENST00000301463.4	-	2	125	c.39C>A	c.(37-39)aaC>aaA	p.N13K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.N50K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	13										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CATCCATCTTGTTCATGAGAA	0.547																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(37-39)aaC>aaA		SPRY domain containing 3							56.0	55.0	55.0					12																	53471030		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53471030G>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.39C>A	12.37:g.53471030G>T	ENSP00000301463:p.Asn13Lys					SPRYD3_ENST00000547837.1_Missense_Mutation_p.N50K	p.N13K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			2	125	-			13					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.39C>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021409	0.54576	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);	0.379184	0.28332	N	0.015731	T	0.32585	0.0834	N	0.08118	0	0.38614	D	0.950966	B	0.28350	0.208	B	0.27170	0.077	T	0.31336	-0.9947	9	0.48119	T	0.1	.	11.8363	0.52325	0.0:0.0:0.8251:0.1749	.	13	Q8NCJ5	SPRY3_HUMAN	K	13;50	.	ENSP00000301463:N13K	N	-	3	2	SPRYD3	51757297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.591000	0.46163	2.635000	0.89317	0.561000	0.74099	AAC		0.547	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		7	26	1	0	1.06961e-07	0.00307968	5.62884e-07	7	26				
KCNH1	3756	broad.mit.edu	37	1	210857106	210857106	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:210857106G>A	ENST00000271751.4	-	11	2514	c.2487C>T	c.(2485-2487)ggC>ggT	p.G829G	KCNH1_ENST00000367007.4_Silent_p.G802G			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	829					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCACAATCGCCCCCGCCCC	0.642																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2404-2406)ggC>ggT		potassium voltage-gated channel, subfamily H (eag-related), member 1							48.0	55.0	53.0					1																	210857106		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857106G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2487C>T	1.37:g.210857106G>A						KCNH1_ENST00000271751.4_Silent_p.G829G	p.G802G	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2575	-			829					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.2406C>T	CCDS1496.1																																																																																				0.642	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		13	89	0	0	0	0.00185496	0	13	89				
P2RX1	5023	broad.mit.edu	37	17	3819509	3819509	+	Missense_Mutation	SNP	C	C	T	rs558236308		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:3819509C>T	ENST00000225538.3	-	1	285	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	4					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CTCCTGGAACCGCCGTGCCAT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16505	0.0		0.0	False		,,,				2504	0.001					ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(10-12)cGg>cAg		purinergic receptor P2X, ligand-gated ion channel, 1							58.0	64.0	62.0					17																	3819509		2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3819509C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.11G>A	17.37:g.3819509C>T	ENSP00000225538:p.Arg4Gln						p.R4Q	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	1	285	-			4					Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.11G>A	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530943	0.45073	.	.	ENSG00000108405	ENST00000225538	T	0.04551	3.6	4.7	3.72	0.42706	.	0.662719	0.15041	N	0.283872	T	0.03434	0.0099	N	0.21097	0.63	0.33313	D	0.566334	B	0.06786	0.001	B	0.04013	0.001	T	0.25950	-1.0117	10	0.12103	T	0.63	-14.3351	8.7412	0.34558	0.0:0.822:0.0:0.178	.	4	P51575	P2RX1_HUMAN	Q	4	ENSP00000225538:R4Q	ENSP00000225538:R4Q	R	-	2	0	P2RX1	3766258	0.108000	0.22018	0.984000	0.44739	0.700000	0.40528	1.387000	0.34430	1.104000	0.41587	0.491000	0.48974	CGG		0.642	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		17	108	0	0	0	0.000958276	0	17	108				
SFI1	9814	broad.mit.edu	37	22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:32007798G>A	ENST00000400288.2	+	24	2567	c.2462G>A	c.(2461-2463)cGg>cAg	p.R821Q	SFI1_ENST00000432498.1_Missense_Mutation_p.R790Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R821Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGACTCAGCCGGACCTGCTTC	0.617																																						ENST00000432498.1																			1	Substitution - Missense(1)	p.R821Q(1)	upper_aerodigestive_tract(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2368-2370)cGg>cAg		Sfi1 homolog, spindle assembly associated (yeast)							45.0	54.0	51.0					22																	32007798		2122	4254	6376	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32007798G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2462G>A	22.37:g.32007798G>A	ENSP00000383145:p.Arg821Gln					SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q	p.R790Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			23	2762	+			821					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2369G>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	6.595	0.478153	0.12521	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.14640	3.14;3.14;2.98;3.01;2.99;2.98;3.17;2.49	5.37	0.96	0.19631	.	0.607393	0.17664	N	0.166202	T	0.05960	0.0155	N	0.08118	0	0.23010	N	0.998433	B;B;B;B;B	0.22746	0.074;0.03;0.032;0.074;0.012	B;B;B;B;B	0.16289	0.015;0.005;0.005;0.015;0.005	T	0.33929	-0.9849	10	0.39692	T	0.17	.	7.1512	0.25612	0.3602:0.0:0.6398:0.0	.	766;727;739;790;821	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	Q	790;766;739;668;668;739;821;404	ENSP00000402679:R790Q;ENSP00000443025:R766Q;ENSP00000416469:R739Q;ENSP00000397148:R668Q;ENSP00000401199:R668Q;ENSP00000383146:R739Q;ENSP00000383145:R821Q;ENSP00000398871:R404Q	ENSP00000383145:R821Q	R	+	2	0	SFI1	30337798	0.000000	0.05858	0.456000	0.27044	0.169000	0.22640	-0.240000	0.08952	0.266000	0.21894	-0.254000	0.11334	CGG		0.617	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		5	39	0	0	0	0.000602214	0	5	39				
ABCC1	4363	broad.mit.edu	37	16	16205306	16205306	+	Silent	SNP	C	C	T	rs376870080		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:16205306C>T	ENST00000399410.3	+	22	3121	c.2946C>T	c.(2944-2946)ttC>ttT	p.F982F	ABCC1_ENST00000399408.2_Silent_p.F992F|ABCC1_ENST00000345148.5_Silent_p.F982F|ABCC1_ENST00000349029.5_Silent_p.F867F|ABCC1_ENST00000346370.5_Silent_p.F926F|ABCC1_ENST00000351154.5_Silent_p.F923F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	982	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCTTCCTTTTCATGTGTAACC	0.537																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(2974-2976)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	C	,,,,	3,4139		0,3,2068	200.0	207.0	204.0		2946,2769,2778,2601,2946	2.9	0.8	16		204	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,3,6274	TT,TC,CC		0.0,0.0724,0.0239	,,,,	982/1532,923/1473,926/1476,867/1417,982/1467	16205306	3,12551	2071	4206	6277	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16205306C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2946C>T	16.37:g.16205306C>T						ABCC1_ENST00000349029.5_Silent_p.F867F|ABCC1_ENST00000345148.5_Silent_p.F982F|ABCC1_ENST00000399410.3_Silent_p.F982F|ABCC1_ENST00000346370.5_Silent_p.F926F|ABCC1_ENST00000351154.5_Silent_p.F923F	p.F992F			P33527	MRP1_HUMAN			23	3151	+			982			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.2976C>T	CCDS42122.1																																																																																				0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		13	135	0	0	0	0.00136819	0	13	135				
ZNF30	90075	broad.mit.edu	37	19	35435248	35435248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:35435248G>T	ENST00000601142.1	+	5	1615	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*	ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E379*|ZNF30_ENST00000439785.1_Nonsense_Mutation_p.E461*|ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E461*|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGAGTGTAAGGAATGTGGCAA	0.428																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1381-1383)Gaa>Taa		zinc finger protein 30							65.0	67.0	66.0					19																	35435248		2203	4300	6503	SO:0001587	stop_gained	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435248G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1378G>T	19.37:g.35435248G>T	ENSP00000469954:p.Glu460*					ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E379*|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E461*|ZNF30_ENST00000601142.1_Nonsense_Mutation_p.E460*	p.E461*	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1825	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		460					A5PLP1|A8K320|B4DIC0|Q6N068	Nonsense_Mutation	SNP	ENST00000601142.1	37	c.1381G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	39	7.623692	0.98396	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	.	.	.	2.42	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.9398	0.24486	0.1523:0.0:0.8477:0.0	.	.	.	.	X	461;460;379;169	.	ENSP00000303889:E460X	E	+	1	0	ZNF30	40127088	0.000000	0.05858	0.055000	0.19348	0.626000	0.37791	0.620000	0.24403	0.347000	0.23924	0.508000	0.49915	GAA		0.428	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		7	41	1	0	2.7689e-08	0.00198382	1.47558e-07	7	41				
RPLP0P6	220717	broad.mit.edu	37	2	38709227	38709227	+	lincRNA	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:38709227C>G	ENST00000417039.1	-	0	696																											GGAGAAACTGCTGCCTCATAT	0.577																																						ENST00000417039.1																			0																																																			220717							g.chr2:38709227C>G																													2.37:g.38709227C>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.577	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			7	57	0	0	0	0.00307968	0	7	57				
RUSC2	9853	broad.mit.edu	37	9	35555624	35555624	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:35555624G>A	ENST00000455600.1	+	3	3151	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	861						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTCCTGGCGATCTGGCCTC	0.637																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2581-2583)cGa>cAa		RUN and SH3 domain containing 2							37.0	37.0	37.0					9																	35555624		2202	4300	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555624G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2582G>A	9.37:g.35555624G>A	ENSP00000393922:p.Arg861Gln						p.R861Q	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	3151	+			861					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2582G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999714	0.35320	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22539	1.95;1.95	4.14	4.14	0.48551	.	0.137252	0.49916	D	0.000121	T	0.09247	0.0228	N	0.19112	0.55	0.31553	N	0.65849	P	0.44986	0.847	B	0.25987	0.065	T	0.12268	-1.0554	10	0.20046	T	0.44	-10.9484	12.0605	0.53561	0.0:0.0:1.0:0.0	.	861	Q8N2Y8	RUSC2_HUMAN	Q	861	ENSP00000355177:R861Q;ENSP00000393922:R861Q	ENSP00000355177:R861Q	R	+	2	0	RUSC2	35545624	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.721000	0.38032	2.296000	0.77279	0.650000	0.86243	CGA		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		6	50	0	0	0	0.00307968	0	6	50				
EEF1E1	9521	broad.mit.edu	37	6	8080226	8080226	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:8080226T>C	ENST00000379715.5	-	4	478	c.422A>G	c.(421-423)aAt>aGt	p.N141S	EEF1E1_ENST00000429723.2_Intron|EEF1E1-BLOC1S5_ENST00000397456.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	141	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCGAGACACATTAAGATATTT	0.368																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(421-423)aAt>aGt		eukaryotic translation elongation factor 1 epsilon 1							146.0	121.0	130.0					6																	8080226		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8080226T>C	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.422A>G	6.37:g.8080226T>C	ENSP00000369038:p.Asn141Ser					EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron	p.N141S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN			4	478	-	Ovarian(93;0.0398)		141			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.422A>G	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663866	0.67700	.	.	ENSG00000124802	ENST00000379715	T	0.51325	0.71	5.23	5.23	0.72850	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.76727	2.345	0.80722	D	1	P	0.52577	0.954	B	0.41619	0.361	T	0.45920	-0.9228	9	.	.	.	-15.8766	15.4369	0.75155	0.0:0.0:0.0:1.0	.	141	O43324	MCA3_HUMAN	S	141	ENSP00000369038:N141S	.	N	-	2	0	EEF1E1	8025225	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.605000	0.74155	2.103000	0.63969	0.477000	0.44152	AAT		0.368	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		3	70	0	0	0	6.4e-05	0	3	70				
C10orf54	64115	broad.mit.edu	37	10	73521632	73521632	+	Silent	SNP	G	G	T	rs377730823		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:73521632G>T	ENST00000394957.3	-	2	292	c.234C>A	c.(232-234)ggC>ggA	p.G78G	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	78	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCTGCACCTCGCCCCTCGAGC	0.647																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(232-234)ggC>ggA		chromosome 10 open reading frame 54							104.0	92.0	96.0					10																	73521632		2203	4300	6503	SO:0001819	synonymous_variant	64115					integral to membrane	receptor activity	g.chr10:73521632G>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.234C>A	10.37:g.73521632G>T						CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.G78G	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	292	-			78			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	c.234C>A	CCDS31218.1																																																																																				0.647	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		5	47	1	0	0.000602214	0.000602214	0.00301824	5	47				
AXIN2	8313	broad.mit.edu	37	17	63537655	63537655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:63537655C>T	ENST00000375702.5	-	3	1085	c.977G>A	c.(976-978)cGt>cAt	p.R326H	AXIN2_ENST00000307078.5_Missense_Mutation_p.R326H|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	326					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACTGCCCACACGATAAGGAGG	0.478									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(976-978)cGt>cAt		axin 2							164.0	136.0	145.0					17																	63537655		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63537655C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.977G>A	17.37:g.63537655C>T	ENSP00000364854:p.Arg326His					AXIN2_ENST00000375702.5_Missense_Mutation_p.R326H|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.R326H	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			4	1290	-			326					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.977G>A		.	.	.	.	.	.	.	.	.	.	C	22.0	4.234348	0.79800	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83335	-1.71;-1.71	5.16	4.19	0.49359	.	0.048060	0.85682	D	0.000000	D	0.90290	0.6963	M	0.79123	2.44	0.47584	D	0.999469	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.947;0.973;0.947	D	0.90838	0.4721	10	0.52906	T	0.07	-11.7876	15.2221	0.73320	0.1414:0.8586:0.0:0.0	.	326;326;326	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	H	326	ENSP00000302625:R326H;ENSP00000364854:R326H	ENSP00000302625:R326H	R	-	2	0	AXIN2	60968117	1.000000	0.71417	0.619000	0.29118	0.983000	0.72400	4.498000	0.60373	1.176000	0.42840	0.561000	0.74099	CGT		0.478	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		11	85	0	0	0	0.000978159	0	11	85				
NRIP1	8204	broad.mit.edu	37	21	16339480	16339480	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr21:16339480A>G	ENST00000400202.1	-	3	1746	c.1034T>C	c.(1033-1035)gTg>gCg	p.V345A	NRIP1_ENST00000400199.1_Missense_Mutation_p.V345A|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.V345A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	345	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATTTTGAAACACTGTAGCACT	0.393																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1033-1035)gTg>gCg		nuclear receptor interacting protein 1							90.0	86.0	88.0					21																	16339480		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339480A>G	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1034T>C	21.37:g.16339480A>G	ENSP00000383063:p.Val345Ala					NRIP1_ENST00000318948.4_Missense_Mutation_p.V345A|NRIP1_ENST00000400199.1_Missense_Mutation_p.V345A	p.V345A			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1746	-			345					Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1034T>C	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202257	0.01581	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.07688	3.17;3.17;3.17	5.58	3.77	0.43336	.	1.002560	0.08043	N	0.995422	T	0.03220	0.0094	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39800	-0.9596	10	0.07644	T	0.81	-35.2726	8.7032	0.34338	0.1325:0.0:0.7445:0.123	.	345	P48552	NRIP1_HUMAN	A	345	ENSP00000383060:V345A;ENSP00000383063:V345A;ENSP00000327213:V345A	ENSP00000327213:V345A	V	-	2	0	NRIP1	15261351	0.004000	0.15560	0.063000	0.19743	0.015000	0.08874	1.658000	0.37376	0.836000	0.34901	-0.153000	0.13522	GTG		0.393	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		12	73	0	0	0	0.00136819	0	12	73				
XPO7	23039	broad.mit.edu	37	8	21857170	21857170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:21857170G>T	ENST00000252512.9	+	24	2867	c.2767G>T	c.(2767-2769)Gga>Tga	p.G923*	XPO7_ENST00000433566.4_Nonsense_Mutation_p.G924*|XPO7_ENST00000434536.1_Nonsense_Mutation_p.G932*	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	923					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CATTTCTGAAGGACTTACTGC	0.433																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2794-2796)Gga>Tga		exportin 7							97.0	90.0	92.0					8																	21857170		1895	4130	6025	SO:0001587	stop_gained	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21857170G>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2767G>T	8.37:g.21857170G>T	ENSP00000252512:p.Gly923*					XPO7_ENST00000252512.9_Nonsense_Mutation_p.G923*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.G924*	p.G932*			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	24	2896	+			923					O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	c.2794G>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	42	9.353974	0.99147	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.9177	19.5646	0.95388	0.0:0.0:1.0:0.0	.	.	.	.	X	932;923;924	.	ENSP00000252512:G923X	G	+	1	0	XPO7	21913116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GGA		0.433	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		5	45	1	0	3.59834e-05	0.00116845	0.000184744	5	45				
RAPGEF5	9771	broad.mit.edu	37	7	22190088	22190088	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:22190088G>A	ENST00000401957.2	-	8	1159	c.912C>T	c.(910-912)atC>atT	p.I304I	RAPGEF5_ENST00000344041.6_Silent_p.I454I			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	304					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.I456M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGGATTTGGAGATGACTAAGT	0.393																																						ENST00000344041.6																			1	Substitution - Missense(1)	p.I456M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(1360-1362)atC>atT		Rap guanine nucleotide exchange factor (GEF) 5							132.0	127.0	129.0					7																	22190088		1849	4085	5934	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22190088G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.912C>T	7.37:g.22190088G>A						RAPGEF5_ENST00000401957.2_Silent_p.I304I	p.I454I	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			18	1674	-			304			Ras-GEF.		A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.1362C>T																																																																																					0.393	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		4	90	0	0	0	0.000602214	0	4	90				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	51	0	0	0	0.00024832	0	3	51				
INPP5J	27124	broad.mit.edu	37	22	31522415	31522415	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:31522415C>T	ENST00000331075.5	+	3	1374	c.1325C>T	c.(1324-1326)aCa>aTa	p.T442I	INPP5J_ENST00000412277.2_Missense_Mutation_p.T375I|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.T75I|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.T74I|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Missense_Mutation_p.T75I	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	442	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACGATGTCACATCCCTCCTC	0.637																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1324-1326)aCa>aTa		inositol polyphosphate-5-phosphatase J							137.0	145.0	142.0					22																	31522415		2167	4249	6416	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522415C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1325C>T	22.37:g.31522415C>T	ENSP00000333262:p.Thr442Ile					INPP5J_ENST00000405300.1_Missense_Mutation_p.T75I|INPP5J_ENST00000412277.2_Missense_Mutation_p.T375I|INPP5J_ENST00000404390.3_Missense_Mutation_p.T74I|INPP5J_ENST00000400294.2_Missense_Mutation_p.T75I	p.T442I			Q15735	PI5PA_HUMAN			3	1374	+			442			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1325C>T		.	.	.	.	.	.	.	.	.	.	C	18.44	3.623967	0.66901	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	4.8	2.7	0.31948	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.053145	0.64402	D	0.000001	D	0.87079	0.6088	M	0.72894	2.215	0.45979	D	0.998797	D;P	0.89917	1.0;0.647	D;P	0.74348	0.983;0.536	D	0.86704	0.1931	10	0.72032	D	0.01	.	11.251	0.49026	0.0:0.85:0.0:0.15	.	442;74	Q15735;Q15735-3	PI5PA_HUMAN;.	I	442;375;7;75;75;74	ENSP00000333262:T442I;ENSP00000392924:T375I;ENSP00000383150:T75I;ENSP00000384596:T75I;ENSP00000384534:T74I	ENSP00000333262:T442I	T	+	2	0	INPP5J	29852415	0.991000	0.36638	0.775000	0.31657	0.688000	0.40055	2.973000	0.49264	0.570000	0.29347	-0.258000	0.10820	ACA		0.637	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		10	141	0	0	0	0.00136819	0	10	141				
RAB3GAP1	22930	broad.mit.edu	37	2	135920601	135920601	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:135920601G>T	ENST00000264158.8	+	22	2579	c.2536G>T	c.(2536-2538)Gct>Tct	p.A846S	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A802S|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A846S|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	846					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTGCCAGAGCTCGGTCACT	0.423																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2536-2538)Gct>Tct		RAB3 GTPase activating protein subunit 1 (catalytic)							143.0	147.0	146.0					2																	135920601		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920601G>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2536G>T	2.37:g.135920601G>T	ENSP00000264158:p.Ala846Ser					ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A802S|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A846S	p.A846S	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	22	2579	+			846					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2536G>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024916	0.93518	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.49432	0.79;0.78;0.78	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	M	0.64997	1.995	0.58432	D	0.99999	D;D	0.63880	0.993;0.991	P;P	0.60473	0.875;0.835	T	0.60026	-0.7343	10	0.40728	T	0.16	-9.7863	20.6208	0.99490	0.0:0.0:1.0:0.0	.	846;846	C9J837;Q15042	.;RB3GP_HUMAN	S	846;802;846	ENSP00000264158:A846S;ENSP00000444306:A802S;ENSP00000411418:A846S	ENSP00000264158:A846S	A	+	1	0	RAB3GAP1	135637071	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.692000	0.91284	2.882000	0.98803	0.655000	0.94253	GCT		0.423	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		11	110	1	0	7.03913e-09	0.00136819	3.79932e-08	11	110				
SMAD4	4089	broad.mit.edu	37	18	48581281	48581281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581281C>G	ENST00000342988.3	+	5	1123	c.585C>G	c.(583-585)taC>taG	p.Y195*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Y195*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Y195*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	195					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)|p.Y195fs*1(1)|p.Y195*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGAGACATACAGCACCCCAG	0.483																																						ENST00000342988.3																			41	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.0?(36)|p.?(3)|p.Y195fs*1(1)|p.Y195*(1)	pancreas(27)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(583-585)taC>taG		SMAD family member 4							222.0	165.0	185.0					18																	48581281		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48581281C>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.585C>G	18.37:g.48581281C>G	ENSP00000341551:p.Tyr195*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Y195*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Y195*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	p.Y195*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	1123	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	195					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.585C>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	41	8.652807	0.98901	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	4.99	0.66335	.	0.052165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3279	0.43805	0.0:0.8481:0.0:0.1519	.	.	.	.	X	195	.	ENSP00000341551:Y195X	Y	+	3	2	SMAD4	46835279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.376000	0.34306	1.623000	0.50342	0.650000	0.86243	TAC		0.483	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		10	88	0	0	0	0.000673444	0	10	88				
SPATA31D1	389763	broad.mit.edu	37	9	84606763	84606763	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:84606763G>T	ENST00000344803.2	+	4	1425	c.1378G>T	c.(1378-1380)Gtt>Ttt	p.V460F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	460					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAATTGCTGTTAAGCATGA	0.418																																						ENST00000344803.2																			0											c.(1378-1380)Gtt>Ttt		SPATA31 subfamily D, member 1							93.0	85.0	88.0					9																	84606763		1957	4143	6100	SO:0001583	missense	389763							g.chr9:84606763G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1378G>T	9.37:g.84606763G>T	ENSP00000341988:p.Val460Phe						p.V460F	NM_001001670.2	NP_001001670.1					4	1425	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1378G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	1.143	-0.648912	0.03506	.	.	ENSG00000214929	ENST00000344803	T	0.05447	3.44	2.41	-3.63	0.04529	.	2.104010	0.02200	N	0.062208	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	P	0.54706	0.759	T	0.29366	-1.0014	10	0.09590	T	0.72	-0.3577	3.7253	0.08472	0.5403:0.0:0.2594:0.2003	.	460	Q6ZQQ2	F75D1_HUMAN	F	460	ENSP00000341988:V460F	ENSP00000341988:V460F	V	+	1	0	FAM75D1	83796583	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-1.015000	0.03375	-0.363000	0.07495	GTT		0.418	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	73	1	0	3.86212e-05	0.000673444	0.000195898	11	73				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	50	0	0	0	0.00307968	0	8	50				
ACACB	32	broad.mit.edu	37	12	109617746	109617746	+	Missense_Mutation	SNP	G	G	A	rs556775153		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109617746G>A	ENST00000338432.7	+	11	1791	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.V558M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	558	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCCAAGACCGTGGGCTATGT	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.0					ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1672-1674)Gtg>Atg		acetyl-CoA carboxylase beta	Biotin(DB00121)						97.0	82.0	87.0					12																	109617746		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109617746G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1672G>A	12.37:g.109617746G>A	ENSP00000341044:p.Val558Met					ACACB_ENST00000377854.5_Missense_Mutation_p.V558M|ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR	p.V558M			O00763	ACACB_HUMAN			11	1791	+			558			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1672G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852298	0.91355	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97831	-4.56;-4.56;-4.56	4.86	4.86	0.63082	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99517	1.0957	10	0.87932	D	0	.	17.9852	0.89154	0.0:0.0:1.0:0.0	.	558	O00763	ACACB_HUMAN	M	558	ENSP00000341044:V558M;ENSP00000367079:V558M;ENSP00000367085:V558M	ENSP00000341044:V558M	V	+	1	0	ACACB	108102129	1.000000	0.71417	0.935000	0.37517	0.975000	0.68041	9.721000	0.98766	2.236000	0.73375	0.655000	0.94253	GTG		0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	53	0	0	0	0.00307968	0	6	53				
ZNF143	7702	broad.mit.edu	37	11	9500065	9500065	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:9500065G>A	ENST00000396602.2	+	6	621	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	ZNF143_ENST00000530463.1_Missense_Mutation_p.G167S|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167S|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140S|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137S	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GACAGTGGCAGGTCTGCACAC	0.493																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(502-504)Ggt>Agt		zinc finger protein 143							159.0	134.0	143.0					11																	9500065		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9500065G>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.502G>A	11.37:g.9500065G>A	ENSP00000379847:p.Gly168Ser					ZNF143_ENST00000396604.1_Missense_Mutation_p.G167S|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140S|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137S|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167S	p.G168S	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	6	621	+			168					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.502G>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554345	0.86231	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265	T;T;T;T;T;T;T;T	0.49720	2.87;2.97;2.87;0.78;2.97;0.77;3.01;0.82	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.57388	0.2050	L	0.36672	1.1	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.48714	-0.9011	10	0.10377	T	0.69	.	18.3682	0.90398	0.0:0.0:1.0:0.0	.	137;167;168	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	S	167;168;167;136;137;168;140;168	ENSP00000379849:G167S;ENSP00000379847:G168S;ENSP00000432154:G167S;ENSP00000434922:G136S;ENSP00000379843:G137S;ENSP00000409432:G168S;ENSP00000299606:G140S;ENSP00000433743:G168S	ENSP00000299606:G140S	G	+	1	0	ZNF143	9456641	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.434000	0.97515	2.344000	0.79699	0.591000	0.81541	GGT		0.493	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		8	90	0	0	0	0.00307968	0	8	90				
ANK3	288	broad.mit.edu	37	10	62023666	62023666	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:62023666G>A	ENST00000280772.2	-	6	817	c.626C>T	c.(625-627)gCg>gTg	p.A209V	ANK3_ENST00000373827.2_Missense_Mutation_p.A203V|ANK3_ENST00000503366.1_Missense_Mutation_p.A192V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	209					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGGCCGCGATATGAAG	0.552																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(625-627)gCg>gTg		ankyrin 3, node of Ranvier (ankyrin G)							111.0	94.0	100.0					10																	62023666		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62023666G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.626C>T	10.37:g.62023666G>A	ENSP00000280772:p.Ala209Val					ANK3_ENST00000503366.1_Missense_Mutation_p.A192V|ANK3_ENST00000373827.2_Missense_Mutation_p.A203V	p.A209V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			6	817	-			209					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.626C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946066	0.92593	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.79653	-0.36;-0.36;1.47;-1.29	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001414	D	0.91835	0.7416	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.999	D	0.93124	0.6527	10	0.87932	D	0	.	18.879	0.92350	0.0:0.0:1.0:0.0	.	192;203;209	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	V	209;203;192;171;183	ENSP00000280772:A209V;ENSP00000362933:A203V;ENSP00000425236:A192V;ENSP00000426011:A183V	ENSP00000280772:A209V	A	-	2	0	ANK3	61693672	1.000000	0.71417	0.269000	0.24586	0.575000	0.36095	9.652000	0.98499	2.696000	0.92011	0.655000	0.94253	GCG		0.552	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		12	51	0	0	0	0.00136819	0	12	51				
LCE2D	353141	broad.mit.edu	37	1	152636834	152636834	+	Missense_Mutation	SNP	C	C	T	rs202193977		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:152636834C>T	ENST00000368784.1	+	2	308	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	85	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(253-255)Cgg>Tgg		late cornified envelope 2D							39.0	53.0	48.0					1																	152636834		2192	4286	6478	SO:0001583	missense	353141				keratinization			g.chr1:152636834C>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.253C>T	1.37:g.152636834C>T	ENSP00000357773:p.Arg85Trp						p.R85W	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	308	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		85			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.253C>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751082	0.15778	.	.	ENSG00000187223	ENST00000368784	T	0.04654	3.58	2.75	-2.83	0.05769	.	.	.	.	.	T	0.02727	0.0082	M	0.76170	2.325	0.09310	N	1	D	0.61080	0.989	B	0.44163	0.443	T	0.29579	-1.0007	9	0.45353	T	0.12	.	8.797	0.34885	0.7481:0.2519:0.0:0.0	.	85	Q5TA82	LCE2D_HUMAN	W	85	ENSP00000357773:R85W	ENSP00000357773:R85W	R	+	1	2	LCE2D	150903458	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-1.726000	0.01861	-0.543000	0.06240	0.305000	0.20034	CGG		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		8	86	0	0	0	0.000274275	0	8	86				
PIH1D1	55011	broad.mit.edu	37	19	49949860	49949860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:49949860G>A	ENST00000262265.5	-	8	1014	c.779C>T	c.(778-780)cCg>cTg	p.P260L	PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	260					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GATCTGCAGCGGGATATAAGC	0.632																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(778-780)cCg>cTg		PIH1 domain containing 1							63.0	70.0	67.0					19																	49949860		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949860G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.779C>T	19.37:g.49949860G>A	ENSP00000262265:p.Pro260Leu					PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260L|PIH1D1_ENST00000602226.1_5'UTR	p.P260L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	8	1014	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	260					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.779C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675389	0.47781	.	.	ENSG00000104872	ENST00000262265	T	0.25414	1.8	3.88	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	M	0.72353	2.195	0.54753	D	0.999983	D	0.89917	1.0	D	0.66196	0.942	T	0.34950	-0.9808	10	0.87932	D	0	-16.9292	6.6605	0.23011	0.1274:0.0:0.8726:0.0	.	260	Q9NWS0	PIHD1_HUMAN	L	260	ENSP00000262265:P260L	ENSP00000262265:P260L	P	-	2	0	PIH1D1	54641672	1.000000	0.71417	0.990000	0.47175	0.329000	0.28539	3.146000	0.50631	2.168000	0.68352	0.655000	0.94253	CCG		0.632	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		10	101	0	0	0	0.000673444	0	10	101				
PSME4	23198	broad.mit.edu	37	2	54119989	54119989	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:54119989T>C	ENST00000404125.1	-	36	4202	c.4147A>G	c.(4147-4149)Ata>Gta	p.I1383V	PSME4_ENST00000421748.2_Missense_Mutation_p.I527V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1383					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAACCAGCTATAATTTCTGCA	0.383																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4147-4149)Ata>Gta		proteasome (prosome, macropain) activator subunit 4							111.0	108.0	109.0					2																	54119989		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54119989T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4147A>G	2.37:g.54119989T>C	ENSP00000384211:p.Ile1383Val					PSME4_ENST00000421748.2_Missense_Mutation_p.I527V	p.I1383V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		36	4202	-			1383					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4147A>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615396	0.28801	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.68025	-0.3;-0.3	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	N	0.05383	-0.06	0.58432	D	0.999996	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.17722	0.019;0.004;0.006	T	0.36529	-0.9744	10	0.10902	T	0.67	.	10.5472	0.45066	0.0:0.0754:0.0:0.9246	.	758;527;1383	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	527;1383	ENSP00000410830:I527V;ENSP00000384211:I1383V	ENSP00000384211:I1383V	I	-	1	0	PSME4	53973493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.044000	0.60594	0.454000	0.30748	ATA		0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		4	69	0	0	0	0.00024832	0	4	69				
GLB1	2720	broad.mit.edu	37	3	33038739	33038739	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:33038739G>A	ENST00000399402.3	-	16	1873	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L	GLB1_ENST00000307363.5_Missense_Mutation_p.S611L|GLB1_ENST00000307377.8_Missense_Mutation_p.S480L|GLB1_ENST00000445488.2_Missense_Mutation_p.S659L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	611					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTTTGGGGCCGAGGTCATCAG	0.572																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1831-1833)tCg>tTg		galactosidase, beta 1							85.0	83.0	84.0					3																	33038739		2000	4155	6155	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33038739G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1742C>T	3.37:g.33038739G>A	ENSP00000382333:p.Ser581Leu					GLB1_ENST00000399402.3_Missense_Mutation_p.S581L|GLB1_ENST00000307377.8_Missense_Mutation_p.S480L|GLB1_ENST00000445488.2_Missense_Mutation_p.S659L	p.S611L	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			16	1976	-		Melanoma(143;0.104)	611					B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1832C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628123	0.46944	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	5.31	5.31	0.75309	Galactose-binding domain-like (1);	0.123338	0.56097	D	0.000027	D	0.91696	0.7375	L	0.43152	1.355	0.49582	D	0.999805	B;P;B;P	0.38223	0.16;0.623;0.081;0.524	B;B;B;B	0.23574	0.008;0.047;0.002;0.011	D	0.91198	0.4989	10	0.35671	T	0.21	-3.6588	18.6222	0.91324	0.0:0.0:1.0:0.0	.	611;480;611;659	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	L	581;611;659;480	ENSP00000382333:S581L;ENSP00000306920:S611L;ENSP00000393377:S659L;ENSP00000305920:S480L	ENSP00000306920:S611L	S	-	2	0	GLB1	33013743	0.999000	0.42202	0.020000	0.16555	0.233000	0.25261	7.625000	0.83145	2.496000	0.84212	0.456000	0.33151	TCG		0.572	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		7	66	0	0	0	0.00307968	0	7	66				
CYP4F8	11283	broad.mit.edu	37	19	15739591	15739591	+	RNA	SNP	C	C	A	rs376016975	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:15739591C>A	ENST00000441682.2	+	0	1396							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F444F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCGCTTCGACCCAGAAA	0.602																																						ENST00000441682.2																			1	Substitution - coding silent(1)	p.F444F(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							58.0	62.0	61.0					19																	15739591		1964	4157	6121			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739591C>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739591C>A										P98187	CP4F8_HUMAN			0	1396	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	14.74	2.626545	0.46840	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	-4.85	0.03142	.	0.000000	0.85682	U	0.000000	T	0.69324	0.3098	.	.	.	0.44966	D	0.997988	D;D	0.76494	0.998;0.999	D;D	0.85130	0.982;0.997	T	0.74047	-0.3790	7	0.87932	D	0	.	11.1785	0.48614	0.0:0.1828:0.0:0.8172	.	257;445	B4DU85;P98187	.;CP4F8_HUMAN	L	444;257	.	ENSP00000314398:F257L	F	+	3	2	CYP4F8	15600591	0.128000	0.22383	0.606000	0.28943	0.345000	0.29048	-0.819000	0.04462	-0.882000	0.03987	0.436000	0.28706	TTC		0.602	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		10	59	1	0	4.84862e-15	0.000978159	2.68588e-14	10	59				
LRIF1	55791	broad.mit.edu	37	1	111494604	111494604	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:111494604G>A	ENST00000369763.4	-	2	1292	c.902C>T	c.(901-903)aCg>aTg	p.T301M	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGAGATGGCGTAAAAGGCTG	0.343																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(901-903)aCg>aTg		ligand dependent nuclear receptor interacting factor 1							103.0	98.0	100.0					1																	111494604		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494604G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.902C>T	1.37:g.111494604G>A	ENSP00000358778:p.Thr301Met					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	p.T301M	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1292	-			301					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.902C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048225	0.36181	.	.	ENSG00000121931	ENST00000369763	T	0.24538	1.85	5.51	2.51	0.30379	.	0.403964	0.25355	N	0.031262	T	0.12433	0.0302	N	0.19112	0.55	0.58432	D	0.999996	D	0.62365	0.991	P	0.54100	0.742	T	0.04664	-1.0935	10	0.62326	D	0.03	-2.693	7.1846	0.25793	0.0916:0.3302:0.5782:0.0	.	301	Q5T3J3	LRIF1_HUMAN	M	301	ENSP00000358778:T301M	ENSP00000358778:T301M	T	-	2	0	LRIF1	111296127	0.447000	0.25673	0.781000	0.31783	0.840000	0.47671	0.563000	0.23547	0.244000	0.21351	0.591000	0.81541	ACG		0.343	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		6	66	0	0	0	0.00198382	0	6	66				
KDM4C	23081	broad.mit.edu	37	9	6893144	6893144	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:6893144A>T	ENST00000381309.3	+	8	1398	c.833A>T	c.(832-834)cAt>cTt	p.H278L	KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Missense_Mutation_p.H97L|KDM4C_ENST00000535193.1_Missense_Mutation_p.H300L|KDM4C_ENST00000381306.3_Missense_Mutation_p.H278L|KDM4C_ENST00000536108.1_Missense_Mutation_p.H97L|KDM4C_ENST00000543771.1_Missense_Mutation_p.H278L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	278	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TATGGCTACCATGCTGGTTTT	0.368																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(832-834)cAt>cTt		lysine (K)-specific demethylase 4C							94.0	95.0	95.0					9																	6893144		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6893144A>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.833A>T	9.37:g.6893144A>T	ENSP00000370710:p.His278Leu					KDM4C_ENST00000381306.3_Missense_Mutation_p.H278L|KDM4C_ENST00000442236.2_Missense_Mutation_p.H97L|KDM4C_ENST00000543771.1_Missense_Mutation_p.H278L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.H300L|KDM4C_ENST00000536108.1_Missense_Mutation_p.H97L	p.H278L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			8	1398	+			278			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.833A>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083674	0.94050	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58;-4.58	5.72	5.72	0.89469	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.048940	0.85682	D	0.000000	D	0.99302	0.9756	H	0.98446	4.235	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	-34.131	16.2988	0.82793	1.0:0.0:0.0:0.0	.	97;278;278;300;278;278	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	L	300;278;278;278;97;97	ENSP00000442382:H300L;ENSP00000445427:H278L;ENSP00000370710:H278L;ENSP00000370707:H278L;ENSP00000409353:H97L;ENSP00000440656:H97L	ENSP00000370707:H278L	H	+	2	0	KDM4C	6883144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.225000	0.95219	2.311000	0.77944	0.533000	0.62120	CAT		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		7	80	0	0	0	0.00198382	0	7	80				
HIST1H1C	3006	broad.mit.edu	37	6	26056552	26056552	+	Silent	SNP	C	C	T	rs139532972	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:26056552C>T	ENST00000343677.2	-	1	147	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	35					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGGGACCAGACGCCTTACGAG	0.632																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(103-105)gcG>gcA		histone cluster 1, H1c		C		0,4406		0,0,2203	44.0	52.0	49.0		105	-2.0	0.5	6	dbSNP_134	49	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous	HIST1H1C	NM_005319.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		35/214	26056552	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056552C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.105G>A	6.37:g.26056552C>T							p.A35A	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	147	-			35					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.105G>A	CCDS4577.1																																																																																				0.632	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		9	91	0	0	0	0.000274275	0	9	91				
MDN1	23195	broad.mit.edu	37	6	90380712	90380712	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:90380712A>G	ENST00000369393.3	-	83	13997	c.13882T>C	c.(13882-13884)Tct>Cct	p.S4628P	MDN1_ENST00000428876.1_Missense_Mutation_p.S4628P|MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4628					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTGCTAAAGACATGGTCAGG	0.532																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(13882-13884)Tct>Cct		MDN1, midasin homolog (yeast)							101.0	91.0	94.0					6																	90380712		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90380712A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13882T>C	6.37:g.90380712A>G	ENSP00000358400:p.Ser4628Pro					MDN1_ENST00000428876.1_Missense_Mutation_p.S4628P|MDN1_ENST00000468568.1_5'UTR	p.S4628P			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	83	13997	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4628					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13882T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418070	0.62622	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	6.02	2.1	0.27182	.	0.463593	0.23084	N	0.052112	T	0.03220	0.0094	M	0.73598	2.24	0.35251	D	0.778704	P	0.42123	0.771	B	0.42851	0.4	T	0.38478	-0.9659	10	0.36615	T	0.2	.	13.569	0.61834	0.6306:0.3694:0.0:0.0	.	4628	Q9NU22	MDN1_HUMAN	P	4628	ENSP00000358400:S4628P;ENSP00000413970:S4628P	ENSP00000358400:S4628P	S	-	1	0	MDN1	90437433	1.000000	0.71417	0.185000	0.23176	0.980000	0.70556	4.232000	0.58645	0.119000	0.18210	0.533000	0.62120	TCT		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	81	0	0	0	0.00024832	0	4	81				
OPN1LW	5956	broad.mit.edu	37	X	153421950	153421950	+	Missense_Mutation	SNP	A	A	T	rs145631912		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chrX:153421950A>T	ENST00000369951.4	+	5	986	c.926A>T	c.(925-927)tAc>tTc	p.Y309F		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	309			Y -> F (in dbSNP:rs1065441).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCGGCCTACTTTGCCAAA	0.537													T|||	3	0.000794702	0.0008	0.0014	3775	,	,		14139	0.001		0.0	False		,,,				2504	0.0					ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(925-927)tAc>tTc		opsin 1 (cone pigments), long-wave-sensitive							320.0	289.0	299.0					X																	153421950		2195	4273	6468	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153421950A>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.926A>T	X.37:g.153421950A>T	ENSP00000358967:p.Tyr309Phe						p.Y309F	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			5	986	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		309		Y -> F (in dbSNP:rs1065441).				Missense_Mutation	SNP	ENST00000369951.4	37	c.926A>T	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342419	0.41498	.	.	ENSG00000102076	ENST00000369951	T	0.70749	-0.51	4.57	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	N	0.13272	0.32	0.45035	D	0.998056	B	0.27229	0.172	B	0.33339	0.162	T	0.26052	-1.0114	10	0.06494	T	0.89	.	7.9824	0.30192	0.5335:0.0:0.0:0.4664	.	309	P04000	OPSR_HUMAN	F	309	ENSP00000358967:Y309F	ENSP00000358967:Y309F	Y	+	2	0	OPN1LW	153075144	0.270000	0.24152	1.000000	0.80357	0.955000	0.61496	0.237000	0.17985	0.539000	0.28788	-0.582000	0.04134	TAC		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		45	416	0	0	0	0.00361006	0	45	416				
MLLT4	4301	broad.mit.edu	37	6	168352492	168352492	+	Silent	SNP	G	G	A	rs560121311		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:168352492G>A	ENST00000447894.2	+	29	4437	c.4437G>A	c.(4435-4437)cgG>cgA	p.R1479R	MLLT4_ENST00000392108.3_Silent_p.R1479R|MLLT4_ENST00000366806.2_Silent_p.R1479R|MLLT4_ENST00000351017.4_Silent_p.R1486R|MLLT4_ENST00000344191.4_Silent_p.R1479R|MLLT4_ENST00000392112.1_Silent_p.R1462R|MLLT4_ENST00000400822.3_Silent_p.R1478R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1479					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGTCATTCGGGAGCTGCAGC	0.577			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4435-4437)cgG>cgA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							63.0	66.0	65.0					6																	168352492		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352492G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4437G>A	6.37:g.168352492G>A						MLLT4_ENST00000447894.2_Silent_p.R1479R|MLLT4_ENST00000392108.3_Silent_p.R1479R|MLLT4_ENST00000392112.1_Silent_p.R1462R|MLLT4_ENST00000400822.3_Silent_p.R1478R|MLLT4_ENST00000344191.4_Silent_p.R1479R|MLLT4_ENST00000351017.4_Silent_p.R1486R	p.R1479R			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4579	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1479					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4437G>A																																																																																					0.577	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		8	81	0	0	0	0.00307968	0	8	81				
PIP4K2A	5305	broad.mit.edu	37	10	22898587	22898587	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:22898587G>A	ENST00000376573.4	-	2	432	c.204C>T	c.(202-204)gcC>gcT	p.A68A	PIP4K2A_ENST00000545335.1_Silent_p.A9A|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	68	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTTTGAATAGGCTTTGAAGT	0.353																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(202-204)gcC>gcT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							135.0	135.0	135.0					10																	22898587		2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22898587G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.204C>T	10.37:g.22898587G>A						PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Silent_p.A9A	p.A68A	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			2	432	-			68			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.204C>T	CCDS7141.1																																																																																				0.353	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		7	53	0	0	0	0.000673444	0	7	53				
EML5	161436	broad.mit.edu	37	14	89206756	89206756	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr14:89206756A>G	ENST00000380664.5	-	5	685	c.686T>C	c.(685-687)aTa>aCa	p.I229T	EML5_ENST00000554922.1_Missense_Mutation_p.I229T|EML5_ENST00000352093.5_Missense_Mutation_p.I229T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	229						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATTGTTCGTATAAGATTGAT	0.363																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(685-687)aTa>aCa		echinoderm microtubule associated protein like 5							129.0	116.0	120.0					14																	89206756		1865	4107	5972	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89206756A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.686T>C	14.37:g.89206756A>G	ENSP00000370039:p.Ile229Thr					EML5_ENST00000352093.5_Missense_Mutation_p.I229T|EML5_ENST00000380664.5_Missense_Mutation_p.I229T	p.I229T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			5	934	-			229					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.686T>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738230	0.30774	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01455	4.87;4.87;4.87	5.21	4.06	0.47325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.225300	0.45126	D	0.000386	T	0.00936	0.0031	N	0.02286	-0.61	0.36101	D	0.84416	B	0.09022	0.002	B	0.12837	0.008	T	0.54807	-0.8238	10	0.25106	T	0.35	-9.8012	8.3803	0.32468	0.8466:0.0:0.1534:0.0	.	229	Q05BV3	EMAL5_HUMAN	T	229	ENSP00000451998:I229T;ENSP00000298315:I229T;ENSP00000370039:I229T	ENSP00000298315:I229T	I	-	2	0	EML5	88276509	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.963000	0.70372	0.805000	0.34159	0.482000	0.46254	ATA		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			5	47	0	0	0	0.000602214	0	5	47				
LRP4	4038	broad.mit.edu	37	11	46898166	46898166	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:46898166G>A	ENST00000378623.1	-	25	3629	c.3387C>T	c.(3385-3387)ctC>ctT	p.L1129L	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1129					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATCAACCGCGAGCCCATCTG	0.537																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3385-3387)ctC>ctT		low density lipoprotein receptor-related protein 4							104.0	97.0	100.0					11																	46898166		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898166G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3387C>T	11.37:g.46898166G>A							p.L1129L	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	25	3629	-			1129					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.3387C>T	CCDS31478.1																																																																																				0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		11	85	0	0	0	0.00136819	0	11	85				
MARCO	8685	broad.mit.edu	37	2	119726797	119726797	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:119726797G>A	ENST00000327097.4	+	2	294	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	53					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCATCTACCTGATCCTGCTCA	0.597																																					GBM(8;18 374 7467 11269 32796)	ENST00000327097.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(157-159)ctG>ctA		macrophage receptor with collagenous structure							134.0	120.0	125.0					2																	119726797		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119726797G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.159G>A	2.37:g.119726797G>A						MARCO_ENST00000541757.1_5'UTR	p.L53L	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN			2	294	+			53					B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.159G>A	CCDS2124.1																																																																																				0.597	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		9	73	0	0	0	0.000978159	0	9	73				
PLAGL1	5325	broad.mit.edu	37	6	144263171	144263171	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:144263171T>C	ENST00000360537.2	-	5	2695	c.782A>G	c.(781-783)cAt>cGt	p.H261R	PLAGL1_ENST00000429150.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000354765.2_Missense_Mutation_p.H261R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H261R			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	261					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTGAGGCTATGGACCTCAGC	0.612											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(781-783)cAt>cGt		pleiomorphic adenoma gene-like 1							86.0	90.0	89.0					6																	144263171		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263171T>C	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.782A>G	6.37:g.144263171T>C	ENSP00000353734:p.His261Arg		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.H261R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000429150.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H261R	p.H261R			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2695	-			261					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.782A>G	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	T	7.311	0.615088	0.14129	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000451709;ENST00000367572;ENST00000367571	T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;3.94;3.94;3.94;2.92	5.67	4.52	0.55395	.	1.227560	0.05788	N	0.609840	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	P	0.44659	0.84	P	0.45343	0.477	T	0.09079	-1.0691	10	0.02654	T	1	-18.1621	10.3481	0.43918	0.0:0.0765:0.0:0.9235	.	261	Q9UM63	PLAL1_HUMAN	R	261;261;261;261;261;261;209;209;50;209;261	ENSP00000353734:H261R;ENSP00000346810:H261R;ENSP00000400929:H261R;ENSP00000398409:H261R;ENSP00000376125:H261R;ENSP00000400060:H261R;ENSP00000392418:H209R;ENSP00000376124:H209R;ENSP00000356544:H209R;ENSP00000356543:H261R	ENSP00000346810:H261R	H	-	2	0	PLAGL1	144304864	0.998000	0.40836	0.022000	0.16811	0.230000	0.25150	4.464000	0.60134	2.150000	0.67090	0.482000	0.46254	CAT		0.612	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			19	123	0	0	0	0.00074312	0	19	123				
CHST6	4166	broad.mit.edu	37	16	75512895	75512895	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:75512895G>A	ENST00000332272.4	-	3	1011	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CHST6_ENST00000390664.2_Missense_Mutation_p.R278W|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	278					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCGGCTCCCGCGCCAGGTCC	0.667																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(832-834)Cgg>Tgg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							36.0	39.0	38.0					16																	75512895		2197	4291	6488	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512895G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.832C>T	16.37:g.75512895G>A	ENSP00000328983:p.Arg278Trp					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R278W	p.R278W	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1011	-			278					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.832C>T	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397794	0.62177	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.83419	-1.72;-1.72	4.89	3.92	0.45320	Sulfotransferase domain (1);	0.061163	0.64402	D	0.000008	D	0.90618	0.7058	M	0.89414	3.03	0.41520	D	0.988397	D	0.89917	1.0	D	0.70016	0.967	D	0.89768	0.3952	10	0.37606	T	0.19	.	10.3341	0.43839	0.0:0.0:0.6427:0.3573	.	278	Q9GZX3	CHST6_HUMAN	W	278	ENSP00000328983:R278W;ENSP00000375079:R278W	ENSP00000328983:R278W	R	-	1	2	CHST6	74070396	0.038000	0.19896	0.569000	0.28460	0.929000	0.56500	1.428000	0.34892	1.037000	0.40024	0.591000	0.81541	CGG		0.667	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		6	51	0	0	0	0.00116845	0	6	51				
PSD	5662	broad.mit.edu	37	10	104164346	104164346	+	Silent	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:104164346G>C	ENST00000020673.5	-	15	3220	c.2694C>G	c.(2692-2694)ctC>ctG	p.L898L	PSD_ENST00000406432.1_Silent_p.L898L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	898					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTACCTGGGAGAGGCGGGTGG	0.612																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2692-2694)ctC>ctG		pleckstrin and Sec7 domain containing							62.0	62.0	62.0					10																	104164346		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164346G>C	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2694C>G	10.37:g.104164346G>C						PSD_ENST00000406432.1_Silent_p.L898L	p.L898L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3220	-			898					B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.2694C>G	CCDS31272.1																																																																																				0.612	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			3	66	0	0	0	6.4e-05	0	3	66				
MUSK	4593	broad.mit.edu	37	9	113563104	113563104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:113563104C>T	ENST00000374448.4	+	15	2580	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.R816*|MUSK_ENST00000416899.2_Nonsense_Mutation_p.R808*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTACTACGTGCGAGATGGCAA	0.557																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2422-2424)Cga>Tga		muscle, skeletal, receptor tyrosine kinase							62.0	61.0	61.0					9																	113563104		2055	4200	6255	SO:0001587	stop_gained	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563104C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2446C>T	9.37:g.113563104C>T	ENSP00000363571:p.Arg816*					MUSK_ENST00000189978.5_Nonsense_Mutation_p.R816*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.R816*	p.R808*			O15146	MUSK_HUMAN			13	2548	+			816			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	ENST00000374448.4	37	c.2422C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097389	0.98063	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	.	.	.	5.62	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.415	0.60963	0.5618:0.4382:0.0:0.0	.	.	.	.	X	822;816;816;730;730;814	.	ENSP00000189978:R822X	R	+	1	2	MUSK	112602925	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	2.500000	0.45381	0.315000	0.23110	0.557000	0.71058	CGA		0.557	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	34	0	0	0	0.000602214	0	4	34				
GSTM2	2946	broad.mit.edu	37	1	110211933	110211933	+	Missense_Mutation	SNP	A	A	G	rs2227960	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:110211933A>G	ENST00000241337.4	+	4	249	c.199A>G	c.(199-201)Act>Gct	p.T67A	GSTM2_ENST00000369831.2_Missense_Mutation_p.T67A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.T67A|GSTM2_ENST00000369827.3_Missense_Mutation_p.T65A|GSTM2_ENST00000442650.1_Missense_Mutation_p.T67A|GSTM2_ENST00000369829.2_Missense_Mutation_p.T67A|GSTM2_ENST00000414179.2_5'UTR	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	67	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GATTGATGGGACTCACAAGAT	0.572													A|||	3	0.000599042	0.0008	0.0014	5008	,	,		18790	0.0		0.001	False		,,,				2504	0.0					ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(199-201)Act>Gct		glutathione S-transferase mu 2 (muscle)		A	ALA/THR,ALA/THR	8,4398	14.3+/-33.2	0,8,2195	229.0	195.0	207.0		199,199	-6.3	0.5	1	dbSNP_98	207	19,8581	12.6+/-44.7	0,19,4281	no	missense,missense	GSTM2	NM_000848.3,NM_001142368.1	58,58	0,27,6476	GG,GA,AA		0.2209,0.1816,0.2076	,	67/219,67/192	110211933	27,12979	2203	4300	6503	SO:0001583	missense	2946							g.chr1:110211933A>G	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.199A>G	1.37:g.110211933A>G	ENSP00000241337:p.Thr67Ala					GSTM2_ENST00000460717.3_Missense_Mutation_p.T67A|GSTM2_ENST00000369829.2_Missense_Mutation_p.T67A|GSTM2_ENST00000369827.3_Missense_Mutation_p.T65A|GSTM2_ENST00000442650.1_Missense_Mutation_p.T67A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000241337.4_Missense_Mutation_p.T67A	p.T67A						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	4	293	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.199A>G	CCDS808.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	A	12.27	1.887077	0.33348	0.001816	0.002209	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	3.16	-6.31	0.02001	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.435255	0.19929	N	0.102916	T	0.07413	0.0187	L	0.31578	0.945	0.20975	N	0.999811	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13282	-1.0515	10	0.38643	T	0.18	.	3.5555	0.07862	0.433:0.0:0.2743:0.2927	rs61799136	67;67;67	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	A	67;65;67;67;67;67;67	ENSP00000416883:T67A;ENSP00000358842:T65A;ENSP00000358846:T67A;ENSP00000435910:T67A;ENSP00000435157:T67A;ENSP00000358844:T67A;ENSP00000241337:T67A	ENSP00000241337:T67A	T	+	1	0	GSTM2	110013456	0.000000	0.05858	0.496000	0.27539	0.948000	0.59901	-1.771000	0.01789	-1.836000	0.01190	-0.321000	0.08615	ACT		0.572	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		23	221	0	0	0	0.000720815	0	23	221				
FAT1	2195	broad.mit.edu	37	4	187560905	187560905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:187560905G>A	ENST00000441802.2	-	4	3822	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1205	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGTTCTCGGTCTAGCTTC	0.308										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3613-3615)Cga>Tga		FAT atypical cadherin 1							145.0	145.0	145.0					4																	187560905		1851	4103	5954	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187560905G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3613C>T	4.37:g.187560905G>A	ENSP00000406229:p.Arg1205*	HNSCC(5;0.00058)					p.R1205*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			4	3822	-			1205			Cadherin 10.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3613C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.718949	0.99456	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.7	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1619	0.48520	0.0:0.0:0.8156:0.1844	.	.	.	.	X	1205	.	ENSP00000260147:R1205X	R	-	1	2	FAT1	187797899	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	2.681000	0.46926	1.167000	0.42706	0.655000	0.94253	CGA		0.308	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	76	0	0	0	0.00185496	0	12	76				
LIN28A	79727	broad.mit.edu	37	1	26751932	26751932	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:26751932C>T	ENST00000326279.6	+	3	481	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LIN28A_ENST00000254231.4_Missense_Mutation_p.R123W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	123	Flexible linker.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAGTGAGAGGCGGCCAAAAGG	0.522																																						ENST00000326279.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(367-369)Cgg>Tgg		lin-28 homolog A (C. elegans)							137.0	130.0	132.0					1																	26751932		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26751932C>T	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.367C>T	1.37:g.26751932C>T	ENSP00000363314:p.Arg123Trp					LIN28A_ENST00000254231.4_Missense_Mutation_p.R123W	p.R123W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN			3	481	+			123						Missense_Mutation	SNP	ENST00000326279.6	37	c.367C>T	CCDS280.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878453	0.51801	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.51817	0.69;0.69	5.08	5.08	0.68730	.	0.083271	0.48767	D	0.000168	T	0.57227	0.2039	L	0.60067	1.865	0.34043	D	0.655214	D	0.89917	1.0	P	0.57468	0.821	T	0.69420	-0.5150	10	0.59425	D	0.04	.	11.1512	0.48460	0.285:0.715:0.0:0.0	.	123	Q9H9Z2	LN28A_HUMAN	W	123	ENSP00000363314:R123W;ENSP00000254231:R123W	ENSP00000254231:R123W	R	+	1	2	LIN28A	26624519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.709000	0.54853	2.662000	0.90505	0.650000	0.86243	CGG		0.522	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		9	108	0	0	0	0.000673444	0	9	108				
YTHDF3	253943	broad.mit.edu	37	8	64099642	64099642	+	Missense_Mutation	SNP	G	G	A	rs563216596		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:64099642G>A	ENST00000539294.1	+	4	1386	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	YTHDF3_ENST00000542911.2_Missense_Mutation_p.R168H|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	358							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAGCTCCTCGTAACAGGGGA	0.547																																						ENST00000539294.1																			0											c.(1069-1071)cGt>cAt		YTH domain family, member 3							80.0	85.0	83.0					8																	64099642		2094	4231	6325	SO:0001583	missense	253943							g.chr8:64099642G>A	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1070G>A	8.37:g.64099642G>A	ENSP00000473496:p.Arg357His					YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.R168H|YTHDF3_ENST00000517371.1_Intron	p.R357H	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	1386	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	358					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1070G>A																																																																																					0.547	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		7	18	0	0	0	0.00198382	0	7	18				
SMAD4	4089	broad.mit.edu	37	18	48581208	48581208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581208C>T	ENST00000342988.3	+	5	1050	c.512C>T	c.(511-513)tCg>tTg	p.S171L	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.S171L|SMAD4_ENST00000588745.1_Missense_Mutation_p.S171L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	171					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGACAGCCATCGTTGTCCACT	0.403																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(3)	p.0?(36)|p.?(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(511-513)tCg>tTg		SMAD family member 4							174.0	123.0	140.0					18																	48581208		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48581208C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.512C>T	18.37:g.48581208C>T	ENSP00000341551:p.Ser171Leu					SMAD4_ENST00000398417.2_Missense_Mutation_p.S171L|SMAD4_ENST00000588745.1_Missense_Mutation_p.S171L|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	p.S171L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	1050	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	171					A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.512C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814655	0.70912	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	T;T	0.73681	-0.77;-0.77	5.86	5.86	0.93980	.	0.310817	0.35739	N	0.003013	T	0.67702	0.2921	L	0.40543	1.245	0.80722	D	1	B	0.30179	0.271	B	0.19391	0.025	T	0.64339	-0.6431	10	0.44086	T	0.13	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	171	Q13485	SMAD4_HUMAN	L	171	ENSP00000341551:S171L;ENSP00000381452:S171L	ENSP00000341551:S171L	S	+	2	0	SMAD4	46835206	1.000000	0.71417	0.932000	0.37286	0.996000	0.88848	5.315000	0.65810	2.937000	0.99478	0.650000	0.86243	TCG		0.403	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		5	51	0	0	0	0.00307968	0	5	51				
PTPN12	5782	broad.mit.edu	37	7	77256908	77256908	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:77256908G>A	ENST00000248594.6	+	13	2184	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	PTPN12_ENST00000435495.2_Missense_Mutation_p.E508K|PTPN12_ENST00000415482.2_Missense_Mutation_p.E519K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	638					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACTAGTACTGAAAGCATTTC	0.388																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1912-1914)Gaa>Aaa		protein tyrosine phosphatase, non-receptor type 12							69.0	68.0	68.0					7																	77256908		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256908G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1912G>A	7.37:g.77256908G>A	ENSP00000248594:p.Glu638Lys					PTPN12_ENST00000435495.2_Missense_Mutation_p.E508K|PTPN12_ENST00000415482.2_Missense_Mutation_p.E519K	p.E638K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	2184	+			638					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1912G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925444	0.92319	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	T;T;T;T	0.40756	3.55;2.95;2.95;1.02	5.68	5.68	0.88126	.	0.325251	0.34959	N	0.003560	T	0.55033	0.1895	L	0.59436	1.845	0.54753	D	0.999987	D	0.67145	0.996	P	0.55923	0.787	T	0.42172	-0.9467	10	0.18276	T	0.48	.	19.7986	0.96495	0.0:0.0:1.0:0.0	.	638	Q05209	PTN12_HUMAN	K	638;519;519;508;146	ENSP00000248594:E638K;ENSP00000392429:E519K;ENSP00000397991:E508K;ENSP00000385079:E146K	ENSP00000248594:E638K	E	+	1	0	PTPN12	77094844	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.261000	0.65496	2.697000	0.92050	0.563000	0.77884	GAA		0.388	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			4	47	0	0	0	0.00024832	0	4	47				
CNGA3	1261	broad.mit.edu	37	2	99012949	99012949	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:99012949G>A	ENST00000272602.2	+	7	1355	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	CNGA3_ENST00000409937.1_Missense_Mutation_p.R443Q|CNGA3_ENST00000393504.1_Missense_Mutation_p.R439Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.R421Q			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	439			R -> W (in ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius). {ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGGGTTATCCGGTGGTTTGAC	0.542																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1315-1317)cGg>cAg		cyclic nucleotide gated channel alpha 3							64.0	65.0	65.0					2																	99012949		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012949G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1316G>A	2.37:g.99012949G>A	ENSP00000272602:p.Arg439Gln					CNGA3_ENST00000272602.2_Missense_Mutation_p.R439Q|CNGA3_ENST00000409937.1_Missense_Mutation_p.R443Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.R421Q	p.R439Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1733	+			439		R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).			E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1316G>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593826	0.46214	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.85	4.85	0.62838	Cyclic nucleotide-binding-like (1);	0.051050	0.85682	D	0.000000	D	0.91898	0.7435	L	0.43757	1.38	0.38274	D	0.942221	B;B;B	0.31274	0.244;0.244;0.317	B;B;B	0.22880	0.026;0.042;0.035	D	0.90131	0.4206	10	0.46703	T	0.11	.	7.1996	0.25873	0.1815:0.0:0.8185:0.0	.	443;421;439	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	Q	439;421;439;443	ENSP00000377140:R439Q;ENSP00000410070:R421Q;ENSP00000272602:R439Q;ENSP00000386761:R443Q	ENSP00000272602:R439Q	R	+	2	0	CNGA3	98379381	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.844000	0.69430	2.513000	0.84729	0.563000	0.77884	CGG		0.542	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		4	38	0	0	0	0.00116845	0	4	38				
TIAM2	26230	broad.mit.edu	37	6	155565824	155565824	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:155565824G>A	ENST00000461783.3	+	20	4723	c.3450G>A	c.(3448-3450)atG>atA	p.M1150I	TIAM2_ENST00000529824.2_Missense_Mutation_p.M1150I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M1174I|TIAM2_ENST00000367174.2_Missense_Mutation_p.M526I|TIAM2_ENST00000456877.2_Missense_Mutation_p.M462I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M1150I|TIAM2_ENST00000275246.7_Missense_Mutation_p.M75I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M1150I|TIAM2_ENST00000528391.2_Missense_Mutation_p.M486I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1150	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCCAGAGATGCTTGAGTTTC	0.438																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3448-3450)atG>atA		T-cell lymphoma invasion and metastasis 2							165.0	160.0	162.0					6																	155565824		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155565824G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3450G>A	6.37:g.155565824G>A	ENSP00000437188:p.Met1150Ile					TIAM2_ENST00000529824.2_Missense_Mutation_p.M1150I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M1174I|TIAM2_ENST00000367174.2_Missense_Mutation_p.M526I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M1150I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M1150I|TIAM2_ENST00000528391.2_Missense_Mutation_p.M486I|TIAM2_ENST00000275246.7_Missense_Mutation_p.M75I|TIAM2_ENST00000456877.2_Missense_Mutation_p.M462I	p.M1150I			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	20	4723	+		Ovarian(120;0.196)	1150			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3450G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369468	0.82463	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.86	4.93	4.93	0.64822	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.00303	-1.675	0.58432	D	0.999994	B;D;D;D	0.76494	0.204;0.998;0.999;0.965	P;D;D;D	0.85130	0.547;0.993;0.997;0.936	T	0.46345	-0.9198	10	0.02654	T	1	.	18.5065	0.90900	0.0:0.0:1.0:0.0	.	486;1150;1174;1150	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	1150;1396;1150;1150;1150;526;1174;1150;462;486;75;88	ENSP00000437188:M1150I;ENSP00000434901:M1150I;ENSP00000407746:M1150I;ENSP00000327315:M1150I;ENSP00000356142:M526I;ENSP00000353528:M1174I;ENSP00000433348:M1150I;ENSP00000407183:M462I;ENSP00000435335:M486I;ENSP00000275246:M75I;ENSP00000431269:M88I	ENSP00000275246:M75I	M	+	3	0	TIAM2	155607516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.440000	0.82611	0.655000	0.94253	ATG		0.438	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		8	104	0	0	0	0.000274275	0	8	104				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	28	0	0	0	0.00024832	0	4	28				
SSH1	54434	broad.mit.edu	37	12	109194621	109194621	+	Silent	SNP	G	G	A	rs376321294		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109194621G>A	ENST00000326495.5	-	12	1176	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	SSH1_ENST00000326470.5_Silent_p.Y372Y|SSH1_ENST00000551165.1_Silent_p.Y361Y|SSH1_ENST00000360239.3_Silent_p.Y49Y	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTCTTCATCGTAGACTCGGA	0.398																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1081-1083)taC>taT		slingshot protein phosphatase 1		G	,,	0,4406		0,0,2203	125.0	123.0	124.0		1083,1116,1083	-11.4	0.0	12		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SSH1	NM_001161330.1,NM_001161331.1,NM_018984.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	361/693,372/704,361/1050	109194621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109194621G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1083C>T	12.37:g.109194621G>A						SSH1_ENST00000360239.3_Silent_p.Y49Y|SSH1_ENST00000326470.5_Silent_p.Y372Y|SSH1_ENST00000551165.1_Silent_p.Y361Y	p.Y361Y	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			12	1176	-			361			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.1083C>T	CCDS9121.1																																																																																				0.398	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		14	114	0	0	0	0.000566183	0	14	114				
ATP12A	479	broad.mit.edu	37	13	25265211	25265211	+	Silent	SNP	G	G	A	rs61739266		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:25265211G>A	ENST00000381946.3	+	8	1058	c.891G>A	c.(889-891)acG>acA	p.T297T	ATP12A_ENST00000218548.6_Silent_p.T303T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	297					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T297T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATGAGAAGACGCCCATTGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		23523	0.001		0.0	False		,,,				2504	0.0				Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.T297T(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(907-909)acG>acA		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)	G	,	2,4404	4.2+/-10.8	0,2,2201	184.0	151.0	162.0		909,891	-6.1	0.9	13	dbSNP_129	162	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	ATP12A	NM_001185085.1,NM_001676.5	,	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	,	303/1046,297/1040	25265211	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25265211G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.891G>A	13.37:g.25265211G>A						ATP12A_ENST00000381946.3_Silent_p.T297T	p.T303T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	8	1242	+		Lung SC(185;0.0225)|Breast(139;0.077)	297					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.909G>A	CCDS31948.1																																																																																				0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		9	69	0	0	0	0.000274275	0	9	69				
VPS72	6944	broad.mit.edu	37	1	151156861	151156861	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:151156861C>T	ENST00000354473.4	-	4	530	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	165					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTAGTGGCCGCTCACAGTG	0.537																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(493-495)cGg>cAg		vacuolar protein sorting 72 homolog (S. cerevisiae)							118.0	124.0	122.0					1																	151156861		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151156861C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.494G>A	1.37:g.151156861C>T	ENSP00000346464:p.Arg165Gln					VPS72_ENST00000496809.1_5'UTR	p.R165Q	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	530	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		165					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.494G>A	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	.	36	5.855595	0.97030	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	6.16	0.99307	.	0.062811	0.64402	D	0.000004	T	0.72930	0.3522	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.69087	-0.5238	9	0.46703	T	0.11	-1.0183	20.4549	0.99139	0.0:1.0:0.0:0.0	.	165	Q15906	VPS72_HUMAN	Q	165	.	ENSP00000346464:R165Q	R	-	2	0	VPS72	149423485	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.937000	0.99478	0.650000	0.86243	CGG		0.537	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		12	157	0	0	0	0.000978159	0	12	157				
IARS	3376	broad.mit.edu	37	9	95004546	95004546	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:95004546T>A	ENST00000375643.3	-	29	3333	c.3067A>T	c.(3067-3069)Aat>Tat	p.N1023Y	IARS_ENST00000443024.2_Missense_Mutation_p.N1023Y|IARS_ENST00000375629.3_Missense_Mutation_p.N76Y|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.N913Y|IARS_ENST00000375627.1_Missense_Mutation_p.N76Y	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1023					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATAACACTATTCAGATATGTT	0.368																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3067-3069)Aat>Tat		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						155.0	146.0	149.0					9																	95004546		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95004546T>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3067A>T	9.37:g.95004546T>A	ENSP00000364794:p.Asn1023Tyr					IARS_ENST00000375627.1_Missense_Mutation_p.N76Y|IARS_ENST00000447699.2_Missense_Mutation_p.N913Y|IARS_ENST00000375629.3_Missense_Mutation_p.N76Y|IARS_ENST00000443024.2_Missense_Mutation_p.N1023Y|IARS_ENST00000474340.1_5'UTR	p.N1023Y	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			29	3333	-			1023					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.3067A>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528585	0.27299	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T	0.47869	0.83;0.83;0.83	6.05	4.93	0.64822	.	0.406920	0.31102	N	0.008244	T	0.33177	0.0854	L	0.34521	1.04	0.42341	D	0.992331	B;B;B	0.17852	0.024;0.0;0.001	B;B;B	0.25506	0.061;0.001;0.0	T	0.38373	-0.9664	10	0.56958	D	0.05	-19.9623	2.8617	0.05589	0.0:0.1625:0.274:0.5634	.	533;1023;868	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	Y	1023;76;1023;913;1023;76	ENSP00000364794:N1023Y;ENSP00000406448:N1023Y;ENSP00000415020:N913Y	ENSP00000364778:N76Y	N	-	1	0	IARS	94044367	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	2.874000	0.48483	2.311000	0.77944	0.528000	0.53228	AAT		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	33	0	0	0	0.00198382	0	7	33				
HIVEP1	3096	broad.mit.edu	37	6	12161735	12161735	+	Missense_Mutation	SNP	A	A	G	rs373379055		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:12161735A>G	ENST00000379388.2	+	8	6883	c.6551A>G	c.(6550-6552)gAt>gGt	p.D2184G	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D49G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2184					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GATGGCCCAGATGAGGATGAC	0.453																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6550-6552)gAt>gGt		human immunodeficiency virus type I enhancer binding protein 1		A	GLY/ASP	0,4096		0,0,2048	79.0	87.0	84.0		6551	5.5	1.0	6		84	1,8389		0,1,4194	no	missense	HIVEP1	NM_002114.2	94	0,1,6242	GG,GA,AA		0.0119,0.0,0.0080	probably-damaging	2184/2719	12161735	1,12485	2048	4195	6243	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161735A>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6551A>G	6.37:g.12161735A>G	ENSP00000368698:p.Asp2184Gly					HIVEP1_ENST00000541134.1_Missense_Mutation_p.D49G	p.D2184G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	6883	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2184					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6551A>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369232	0.82463	0.0	1.19E-4	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.35048	2.69;1.33	5.47	5.47	0.80525	.	0.221312	0.23049	N	0.052517	T	0.51890	0.1701	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.58418	-0.7640	10	0.54805	T	0.06	-23.1678	14.4119	0.67119	1.0:0.0:0.0:0.0	.	2184	P15822	ZEP1_HUMAN	G	2184;111;49;166	ENSP00000368698:D2184G;ENSP00000445617:D49G	ENSP00000368698:D2184G	D	+	2	0	HIVEP1	12269721	1.000000	0.71417	0.991000	0.47740	0.841000	0.47740	8.114000	0.89570	2.202000	0.70862	0.533000	0.62120	GAT		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		9	74	0	0	0	0.000274275	0	9	74				
AEBP1	165	broad.mit.edu	37	7	44151908	44151908	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:44151908G>A	ENST00000223357.3	+	17	2510	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.S310S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	735	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTACCTTTCGCCAGATGCCA	0.622																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2203-2205)tcG>tcA		AE binding protein 1							38.0	40.0	40.0					7																	44151908		2203	4300	6503	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151908G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2205G>A	7.37:g.44151908G>A						AEBP1_ENST00000450684.2_Silent_p.S310S	p.S735S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			17	2510	+			735			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.2205G>A	CCDS5476.1																																																																																				0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		5	42	0	0	0	0.000602214	0	5	42				
PPP1R9A	55607	broad.mit.edu	37	7	94539551	94539551	+	Silent	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:94539551A>G	ENST00000433881.1	+	2	658	c.126A>G	c.(124-126)gaA>gaG	p.E42E	PPP1R9A_ENST00000340694.4_Silent_p.E42E|PPP1R9A_ENST00000289495.5_Silent_p.E42E|PPP1R9A_ENST00000456331.2_Silent_p.E42E|PPP1R9A_ENST00000433360.1_Silent_p.E42E|PPP1R9A_ENST00000424654.1_Silent_p.E42E			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	42	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGATGGGGAACAAAAAACAA	0.453										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(124-126)gaA>gaG		protein phosphatase 1, regulatory subunit 9A							52.0	50.0	51.0					7																	94539551		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539551A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.126A>G	7.37:g.94539551A>G		HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Silent_p.E42E|PPP1R9A_ENST00000433360.1_Silent_p.E42E|PPP1R9A_ENST00000433881.1_Silent_p.E42E|PPP1R9A_ENST00000456331.2_Silent_p.E42E|PPP1R9A_ENST00000340694.4_Silent_p.E42E	p.E42E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	342	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		42			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.126A>G	CCDS34683.1																																																																																				0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		4	32	0	0	0	0.000602214	0	4	32				
RPS28	6234	broad.mit.edu	37	19	8386936	8386936	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:8386936C>G	ENST00000600659.2	+	3	218	c.187C>G	c.(187-189)Cga>Gga	p.R63G	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	63					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)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										GGAGTCAGAGCGAGAAGCCCG	0.592																																						ENST00000600659.2																			0											c.(187-189)Cga>Gga		ribosomal protein S28							17.0	17.0	17.0					19																	8386936		1973	4146	6119	SO:0001583	missense	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386936C>G	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.187C>G	19.37:g.8386936C>G	ENSP00000472469:p.Arg63Gly						p.R63G	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN			3	218	+			63					P25112	Missense_Mutation	SNP	ENST00000600659.2	37	c.187C>G	CCDS45953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.02|17.02	3.281633|3.281633	0.59758|0.59758	.|.	.|.	ENSG00000233927|ENSG00000233927	ENST00000449223|ENST00000417088	.|.	.|.	.|.	5.22|5.22	1.77|1.77	0.24775|0.24775	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	T|T	0.64057|0.64057	0.2564|0.2564	.|.	.|.	.|.	0.23506|0.23506	N|N	0.997533|0.997533	.|D	.|0.58268	.|0.982	.|D	.|0.63283	.|0.913	T|T	0.57429|0.57429	-0.7813|-0.7813	4|7	.|0.87932	.|D	.|0	.|.	13.0334|13.0334	0.58856|0.58856	0.4348:0.5652:0.0:0.0|0.4348:0.5652:0.0:0.0	.|.	.|63	.|P62857	.|RS28_HUMAN	G|G	76|63	.|.	.|ENSP00000397872:R63G	A|R	+|+	2|1	0|2	RPS28|RPS28	8292936|8292936	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.924000|0.924000	0.55760|0.55760	1.473000|1.473000	0.35387|0.35387	0.290000|0.290000	0.22444|0.22444	-0.182000|-0.182000	0.12963|0.12963	GCG|CGA		0.592	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		3	17	0	0	0	6.4e-05	0	3	17				
ZNF721	170960	broad.mit.edu	37	4	466365	466365	+	Intron	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:466365T>C	ENST00000338977.5	-	1	47				ZNF721_ENST00000507078.1_5'UTR|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Splice_Site_p.L43L|ZNF721_ENST00000511833.2_Splice_Site_p.L11L			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L11L(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATCCTCACCTAGGGAGACCA	0.368																																						ENST00000511833.2																			1	Substitution - coding silent(1)	p.L11L(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.e2+1		zinc finger protein 721							79.0	87.0	84.0					4																	466365		2203	4300	6503	SO:0001627	intron_variant	170960							g.chr4:466365T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1+26479A>G	4.37:g.466365T>C						ZNF721_ENST00000506646.1_Splice_Site_p.L43_splice|ZNF721_ENST00000338977.5_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_5'UTR	p.L11_splice	NM_133474.3	NP_597731.2					2	226	-								Q69YG7	Splice_Site	SNP	ENST00000338977.5	37	c.34_splice																																																																																					0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		3	78	0	0	0	0.00024832	0	3	78				
REG4	83998	broad.mit.edu	37	1	120337248	120337248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:120337248C>T	ENST00000354219.1	-	7	909	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Missense_Mutation_p.R157Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	157						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCTCTATGGTCGGTACTTGCA	0.428																																						ENST00000354219.1																			0				central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(469-471)cGa>cAa		regenerating islet-derived family, member 4							265.0	259.0	261.0					1																	120337248		2203	4300	6503	SO:0001583	missense	83998					extracellular region	sugar binding	g.chr1:120337248C>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.470G>A	1.37:g.120337248C>T	ENSP00000346158:p.Arg157Gln					REG4_ENST00000256585.5_Missense_Mutation_p.R157Q|REG4_ENST00000530654.1_3'UTR	p.R157Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	7	909	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	157					Q8NER6|Q8NER7	Missense_Mutation	SNP	ENST00000354219.1	37	c.470G>A	CCDS906.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947687	0.18356	.	.	ENSG00000134193	ENST00000354219;ENST00000256585	T;T	0.08546	3.08;3.08	4.76	-3.13	0.05266	C-type lectin fold (1);	1.071720	0.07439	N	0.896965	T	0.02418	0.0074	L	0.49640	1.575	0.09310	N	1	B	0.18863	0.031	B	0.09377	0.004	T	0.42832	-0.9428	10	0.28530	T	0.3	0.3763	10.0459	0.42186	0.0:0.3822:0.0:0.6178	.	157	Q9BYZ8	REG4_HUMAN	Q	157	ENSP00000346158:R157Q;ENSP00000256585:R157Q	ENSP00000256585:R157Q	R	-	2	0	REG4	120138771	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.253000	0.01184	-0.885000	0.03971	0.644000	0.83932	CGA		0.428	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		14	195	0	0	0	0.00074312	0	14	195				
COL22A1	169044	broad.mit.edu	37	8	139635989	139635989	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:139635989G>C	ENST00000303045.6	-	52	4203	c.3757C>G	c.(3757-3759)Ccc>Gcc	p.P1253A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1233A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1253	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCAGGGGGACCCGGCTTT	0.438										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3757-3759)Ccc>Gcc		collagen, type XXII, alpha 1							192.0	205.0	200.0					8																	139635989		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139635989G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3757C>G	8.37:g.139635989G>C	ENSP00000303153:p.Pro1253Ala	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1233A|COL22A1_ENST00000341807.4_5'UTR	p.P1253A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4203	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1253			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3757C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	5.205	0.223315	0.09863	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96554	-4.05;-4.05	4.43	2.61	0.31194	.	0.293763	0.24211	U	0.040531	D	0.91526	0.7324	L	0.52266	1.64	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.76468	-0.2948	10	0.06757	T	0.87	.	6.2681	0.20939	0.0994:0.1867:0.7139:0.0	.	1233;1253	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1253;1233;946	ENSP00000303153:P1253A;ENSP00000387655:P1233A	ENSP00000303153:P1253A	P	-	1	0	COL22A1	139705171	0.026000	0.19158	0.224000	0.23877	0.697000	0.40408	0.070000	0.14573	0.783000	0.33636	0.591000	0.81541	CCC		0.438	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		53	171	0	0	0	0.00361006	0	53	171				
DRD5	1816	broad.mit.edu	37	4	9784380	9784380	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:9784380G>A	ENST00000304374.2	+	1	1123	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	243					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CATCATGATCGTGACCTACAC	0.607																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(727-729)Gtg>Atg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						62.0	54.0	57.0					4																	9784380		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784380G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.727G>A	4.37:g.9784380G>A	ENSP00000306129:p.Val243Met						p.V243M	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1123	+			243					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.727G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.997927	0.74818	.	.	ENSG00000169676	ENST00000304374	T	0.41758	0.99	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.065142	0.64402	D	0.000009	T	0.67468	0.2896	M	0.82716	2.605	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.72211	-0.4359	10	0.54805	T	0.06	.	16.601	0.84815	0.0:0.0:1.0:0.0	.	243	P21918	DRD5_HUMAN	M	243	ENSP00000306129:V243M	ENSP00000306129:V243M	V	+	1	0	DRD5	9393478	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.366000	0.79548	2.387000	0.81309	0.305000	0.20034	GTG		0.607	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	45	0	0	0	0.00307968	0	8	45				
SLITRK5	26050	broad.mit.edu	37	13	88328670	88328670	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:88328670C>T	ENST00000325089.6	+	2	1246	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R102C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	343					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCAGGGTGCGCCCCACCTC	0.597																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1027-1029)Cgc>Tgc		SLIT and NTRK-like family, member 5							60.0	65.0	63.0					13																	88328670		2203	4299	6502	SO:0001583	missense	26050					integral to membrane		g.chr13:88328670C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1027C>T	13.37:g.88328670C>T	ENSP00000366283:p.Arg343Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R102C	p.R343C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1246	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		343					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1027C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780901	0.49891	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60424	0.19;0.53	5.85	5.0	0.66597	.	0.125717	0.53938	D	0.000058	T	0.69771	0.3148	L	0.59436	1.845	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.65140	0.932;0.932	T	0.69840	-0.5036	9	.	.	.	-16.2855	14.0778	0.64900	0.1517:0.8482:0.0:0.0	.	102;343	B4DSH5;O94991	.;SLIK5_HUMAN	C	343;102	ENSP00000366283:R343C;ENSP00000442244:R102C	.	R	+	1	0	SLITRK5	87126671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.001000	0.70685	1.457000	0.47850	0.561000	0.74099	CGC		0.597	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	93	0	0	0	0.00307968	0	8	93				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	30	0	0	0	0.00307968	0	8	30				
ADAMTS8	11095	broad.mit.edu	37	11	130278733	130278733	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:130278733G>T	ENST00000257359.6	-	7	2559	c.1853C>A	c.(1852-1854)tCc>tAc	p.S618Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	618	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTCCCGGGGGGACACCCCAGC	0.562																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1852-1854)tCc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 8							97.0	98.0	97.0					11																	130278733		1893	4118	6011	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278733G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1853C>A	11.37:g.130278733G>T	ENSP00000257359:p.Ser618Tyr						p.S618Y	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2559	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	618			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1853C>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572780	0.65765	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.03689	3.84	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	M	0.70842	2.15	0.51767	D	0.999936	P;D	0.89917	0.805;1.0	P;D	0.91635	0.459;0.999	T	0.00724	-1.1593	10	0.42905	T	0.14	.	14.2835	0.66228	0.0717:0.0:0.9283:0.0	.	618;99	Q9UP79;B3KVX9	ATS8_HUMAN;.	Y	16;618;647	ENSP00000257359:S618Y	ENSP00000257359:S618Y	S	-	2	0	ADAMTS8	129783943	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	7.561000	0.82288	1.437000	0.47472	0.655000	0.94253	TCC		0.562	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		14	111	1	0	2.32078e-09	0.00316338	1.2689e-08	14	111				
PARP8	79668	broad.mit.edu	37	5	50057654	50057654	+	Splice_Site	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:50057654G>T	ENST00000281631.5	+	6	503		c.e6-1		PARP8_ENST00000505554.1_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTATTTTAAGGAATCAAGAC	0.333																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e6-1		poly (ADP-ribose) polymerase family, member 8							60.0	63.0	62.0					5																	50057654		2203	4298	6501	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50057654G>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.346-1G>T	5.37:g.50057654G>T						PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site		NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			6	503	+		Lung NSC(810;0.0305)|Breast(144;0.222)						Q3KRB7|Q6DHZ1|Q9H754	Splice_Site	SNP	ENST00000281631.5	37		CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806758	0.70682	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9216	0.86166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARP8	50093411	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.309000	0.72825	2.595000	0.87683	0.557000	0.71058	.		0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Intron	6	62	1	0	2.0095e-06	0.00198382	1.04444e-05	6	62				
TULP3	7289	broad.mit.edu	37	12	3048518	3048518	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:3048518G>A	ENST00000448120.2	+	11	1288	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	TULP3_ENST00000397132.2_Missense_Mutation_p.V413M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	413					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCAGATGACGTGTTCACACT	0.428																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1237-1239)Gtg>Atg		tubby like protein 3							326.0	270.0	289.0					12																	3048518		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3048518G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1237G>A	12.37:g.3048518G>A	ENSP00000410051:p.Val413Met					TULP3_ENST00000397132.2_Missense_Mutation_p.V413M	p.V413M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		11	1288	+			413					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.1237G>A	CCDS8519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.096|8.096	0.775576|0.775576	0.16051|0.16051	.|.	.|.	ENSG00000078246|ENSG00000078246	ENST00000541678;ENST00000538704|ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	.|D;D	.|0.96265	.|-3.96;-3.96	5.64|5.64	3.77|3.77	0.43336|0.43336	.|Tubby, C-terminal (4);	.|0.407196	.|0.27311	.|N	.|0.019946	D|D	0.94634|0.94634	0.8270|0.8270	L|L	0.41415|0.41415	1.275|1.275	0.34244|0.34244	D|D	0.677992|0.677992	.|P;D;P	.|0.60575	.|0.897;0.988;0.956	.|B;P;B	.|0.55222	.|0.298;0.771;0.388	D|D	0.93701|0.93701	0.7015|0.7015	5|9	.|.	.|.	.|.	0.7883|0.7883	5.4183|5.4183	0.16386|0.16386	0.0756:0.1425:0.6342:0.1476|0.0756:0.1425:0.6342:0.1476	.|.	.|237;413;413	.|B7Z1E7;O75386;F8WBZ9	.|.;TULP3_HUMAN;.	H|M	89;78|413;237;413;413	.|ENSP00000410051:V413M;ENSP00000380321:V413M	.|.	R|V	+|+	2|1	0|0	TULP3|TULP3	2918779|2918779	0.998000|0.998000	0.40836|0.40836	0.576000|0.576000	0.28549|0.28549	0.538000|0.538000	0.34931|0.34931	2.658000|2.658000	0.46733|0.46733	0.700000|0.700000	0.31782|0.31782	0.491000|0.491000	0.48974|0.48974	CGT|GTG		0.428	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		11	112	0	0	0	0.000978159	0	11	112				
PKD1	5310	broad.mit.edu	37	16	2153543	2153543	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:2153543T>C	ENST00000262304.4	-	23	8723	c.8515A>G	c.(8515-8517)Atc>Gtc	p.I2839V	PKD1_ENST00000423118.1_Missense_Mutation_p.I2839V|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2839					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTTGCTGATATAGCCAAAG	0.612																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8515-8517)Atc>Gtc		polycystic kidney disease 1 (autosomal dominant)							29.0	31.0	31.0					16																	2153543		2177	4244	6421	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153543T>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8515A>G	16.37:g.2153543T>C	ENSP00000262304:p.Ile2839Val					PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.I2839V	p.I2839V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8723	-			2839					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8515A>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	T	5.539	0.284411	0.10513	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.33438	1.41;1.41	4.51	3.42	0.39159	.	0.734274	0.12822	N	0.436359	T	0.29524	0.0736	L	0.43923	1.385	0.34466	D	0.702322	P;P	0.48230	0.907;0.512	P;B	0.49477	0.612;0.153	T	0.19451	-1.0305	10	0.08837	T	0.75	.	8.0781	0.30729	0.0:0.1655:0.0:0.8345	.	2839;2839	P98161-3;P98161	.;PKD1_HUMAN	V	2839;2839;2174;1118	ENSP00000262304:I2839V;ENSP00000399501:I2839V	ENSP00000262304:I2839V	I	-	1	0	PKD1	2093544	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	2.346000	0.44027	0.778000	0.33520	0.454000	0.30748	ATC		0.612	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	86	0	0	0	0.00198382	0	7	86				
PUM1	9698	broad.mit.edu	37	1	31437649	31437650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:31437649_31437650insA	ENST00000257075.5	-	14	2287_2288	c.2194_2195insT	c.(2194-2196)tatfs	p.Y732fs	PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Y490fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Y768fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Y673fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Y732fs|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Y706fs|PUM1_ENST00000373747.3_Frame_Shift_Ins_p.Y733fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Y588fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	732	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCCGTTATAAAAACTGTGT	0.559																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2197-2199)taafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31437649_31437650insA	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2195dupT	1.37:g.31437654_31437654dupA	ENSP00000257075:p.Tyr732fs					PUM1_ENST00000257075.5_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.*706fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.*490fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.*588fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.*768fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.*673fs	p.*733fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	14	2296_2297	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	732			Ser-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.2197_2198insT	CCDS338.1																																																																																				0.559	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			13	147						13	147	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108488296	108488297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:108488296_108488297insA	ENST00000408999.3	+	20	3913_3914	c.3836_3837insA	c.(3835-3840)agaaaafs	p.RK1279fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.RK1279fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1279					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCTGTGAGAAAAAATCTTT	0.396																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3835-3837)aaafs		RANBP2-like and GRIP domain containing 4																																				SO:0001589	frameshift_variant	285190				intracellular transport		binding	g.chr2:108488296_108488297insA	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3842dupA	2.37:g.108488302_108488302dupA	ENSP00000386810:p.Arg1279fs					RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.K1279fs	p.K1279fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3913_3914	+			1279					B9A029	Frame_Shift_Ins	INS	ENST00000408999.3	37	c.3836_3837insA	CCDS46381.1																																																																																				0.396	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		32	391						32	391	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150921902	150921902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150921902delT	ENST00000261800.5	-	9	8798	c.8786delA	c.(8785-8787)aagfs	p.K2929fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2929	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAGGGTCTTTAGAGTCGC	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8785-8787)agfs		FAT atypical cadherin 2							147.0	142.0	144.0					5																	150921902		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150921902delT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8786delA	5.37:g.150921902delT	ENSP00000261800:p.Lys2929fs						p.K2929fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8798	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2929			Cadherin 26.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.8786delA	CCDS4317.1																																																																																				0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		19	182						19	182	---	---	---	---
