#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
CHAMP1	283489	broad.mit.edu	37	13	115090946	115090946	+	Silent	SNP	A	A	G	rs566990403		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:115090946A>G	ENST00000361283.1	+	3	1938	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	543	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTGCTTCTCCAGAAGCACGCA	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.001					ENST00000361283.1																			0											c.(1627-1629)ccA>ccG		chromosome alignment maintaining phosphoprotein 1							188.0	216.0	207.0					13																	115090946		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090946A>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1629A>G	13.37:g.115090946A>G							p.P543P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1938	+			543			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1629A>G	CCDS9545.1																																																																																				0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		8	392	0	0	0	1	0	8	392				
MYOF	26509	broad.mit.edu	37	10	95191198	95191198	+	Silent	SNP	G	G	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:95191198G>T	ENST00000359263.4	-	4	311	c.312C>A	c.(310-312)atC>atA	p.I104I	MYOF_ENST00000371502.4_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371501.4_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	104					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGCAGGGAGATCAGCTTGT	0.448																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(310-312)atC>atA		myoferlin							98.0	93.0	95.0					10																	95191198		1945	4158	6103	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95191198G>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.312C>A	10.37:g.95191198G>T						MYOF_ENST00000359263.4_Silent_p.I104I|MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I	p.I104I			Q9NZM1	MYOF_HUMAN			4	434	-			104					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.312C>A	CCDS41551.1																																																																																				0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		26	38	1	0	3.90053e-15	1	4.07388e-15	26	38				
SULT1A2	6799	broad.mit.edu	37	16	28606753	28606753	+	Nonsense_Mutation	SNP	G	G	A	rs559346977		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28606753G>A	ENST00000395630.1	-	4	657	c.307C>T	c.(307-309)Cga>Tga	p.R103*	SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*|SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCAGGAGTCGTGGGGCTGGT	0.592																																						ENST00000395630.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(307-309)Cga>Tga		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							138.0	130.0	133.0					16																	28606753		2197	4300	6497	SO:0001587	stop_gained	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28606753G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.307C>T	16.37:g.28606753G>A	ENSP00000378992:p.Arg103*					SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*	p.R103*	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN			4	657	-			103					A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	37	c.307C>T	CCDS10636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	35|35	5.525637|5.525637	0.96431|0.96431	.|.	.|.	ENSG00000197165|ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384|ENST00000533150	.|T	.|0.02345	.|4.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.09774	.|0.0240	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.06552	.|-1.0820	.|5	0.02654|0.54805	T|T	1|0.06	.|.	15.1874|15.1874	0.73016|0.73016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	103|131	.|ENSP00000435271:T131M	ENSP00000338742:R103X|ENSP00000435271:T131M	R|T	-|-	1|2	2|0	SULT1A2|SULT1A2	28514254|28514254	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.084000|0.084000	0.17831|0.17831	6.378000|6.378000	0.73150|0.73150	2.148000|2.148000	0.66965|0.66965	0.556000|0.556000	0.70494|0.70494	CGA|ACG		0.592	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		12	115	0	0	0	1	0	12	115				
EPHA4	2043	broad.mit.edu	37	2	222294846	222294846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:222294846T>C	ENST00000281821.2	-	15	2563	c.2522A>G	c.(2521-2523)tAt>tGt	p.Y841C	EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	841	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTAACCGATAGCCTTCCTC	0.527																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2521-2523)tAt>tGt		EPH receptor A4							111.0	100.0	104.0					2																	222294846		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294846T>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2522A>G	2.37:g.222294846T>C	ENSP00000281821:p.Tyr841Cys					EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C	p.Y841C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2563	-		Renal(207;0.0183)	841			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2522A>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581732	0.86748	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91479	0.5203	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	841	P54764	EPHA4_HUMAN	C	841;841;841;790	ENSP00000281821:Y841C;ENSP00000386276:Y841C;ENSP00000386829:Y841C;ENSP00000375923:Y790C	ENSP00000281821:Y841C	Y	-	2	0	EPHA4	222003090	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TAT		0.527	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			9	58	0	0	0	1	0	9	58				
ISL1	3670	broad.mit.edu	37	5	50683336	50683336	+	Silent	SNP	C	C	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr5:50683336C>A	ENST00000230658.7	+	3	816	c.231C>A	c.(229-231)atC>atA	p.I77I	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	77					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTACGGGATCAAATGCGCCA	0.622																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(229-231)atC>atA		ISL LIM homeobox 1							31.0	33.0	32.0					5																	50683336		2020	4172	6192	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683336C>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.231C>A	5.37:g.50683336C>A						ISL1_ENST00000511384.1_Silent_p.I77I|ISL1_ENST00000505475.2_3'UTR	p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			3	816	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	77					P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.231C>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330649	0.24167	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.58	4.63	0.57726	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79825	-0.1640	5	0.87932	D	0	.	16.8832	0.86069	0.1369:0.8631:0.0:0.0	.	.	.	.	K	24	.	ENSP00000421737:Q24K	Q	+	1	0	ISL1	50719093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.316000	0.33620	2.637000	0.89404	0.555000	0.69702	CAA		0.622	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		10	13	1	0	0.00010058	1	0.00010058	10	13				
SCG2	7857	broad.mit.edu	37	2	224462280	224462280	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:224462280G>A	ENST00000305409.2	-	2	1953	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P574Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCATTCTTCGGGGGCCCCAC	0.493																																						ENST00000305409.2																			1	Substitution - Missense(1)	p.P574Q(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1720-1722)cCg>cTg		secretogranin II							84.0	85.0	85.0					2																	224462280		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462280G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1721C>T	2.37:g.224462280G>A	ENSP00000304133:p.Pro574Leu						p.P574L	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1953	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	574					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1721C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	7.604	0.673420	0.14776	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01495	4.83	5.55	-3.01	0.05463	.	0.498560	0.18487	N	0.139769	T	0.00906	0.0030	N	0.16478	0.41	0.20196	N	0.999925	B	0.11235	0.004	B	0.08055	0.003	T	0.46373	-0.9196	10	0.28530	T	0.3	.	0.6723	0.00861	0.3814:0.1666:0.253:0.199	.	574	P13521	SCG2_HUMAN	L	574;434	ENSP00000304133:P574L	ENSP00000304133:P574L	P	-	2	0	SCG2	224170524	0.000000	0.05858	0.517000	0.27799	0.874000	0.50279	-0.230000	0.09083	-0.205000	0.10219	0.585000	0.79938	CCG		0.493	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		4	117	0	0	0	1	0	4	117				
ZNF217	7764	broad.mit.edu	37	20	52199070	52199070	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:52199070C>T	ENST00000371471.2	-	2	721	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	99					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTTCAACCCGAAGAACTGC	0.443																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(295-297)cGg>cAg		zinc finger protein 217							137.0	131.0	133.0					20																	52199070		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199070C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.296G>A	20.37:g.52199070C>T	ENSP00000360526:p.Arg99Gln					ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q	p.R99Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	721	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		99					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.296G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310090	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09911	2.93;2.93	5.79	5.79	0.91817	.	0.062472	0.64402	D	0.000004	T	0.27098	0.0664	M	0.63843	1.955	0.58432	D	0.99999	D	0.69078	0.997	P	0.56042	0.79	T	0.00083	-1.2103	10	0.42905	T	0.14	-31.2629	19.635	0.95728	0.0:1.0:0.0:0.0	.	99	O75362	ZN217_HUMAN	Q	99	ENSP00000360526:R99Q;ENSP00000304308:R99Q	ENSP00000304308:R99Q	R	-	2	0	ZNF217	51632477	0.989000	0.36119	0.846000	0.33378	0.316000	0.28119	2.851000	0.48302	2.733000	0.93635	0.655000	0.94253	CGG		0.443	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		38	187	0	0	0	1	0	38	187				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		3	35	0	0	0	1	0	3	35				
TRIM3	10612	broad.mit.edu	37	11	6470639	6470639	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:6470639C>G	ENST00000525074.1	-	11	2373	c.1979G>C	c.(1978-1980)gGc>gCc	p.G660A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	660					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGGGAGCCAAACTTGAA	0.602																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1978-1980)gGc>gCc		tripartite motif containing 3							52.0	42.0	45.0					11																	6470639		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470639C>G	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1979G>C	11.37:g.6470639C>G	ENSP00000433102:p.Gly660Ala					TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A	p.G660A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	2373	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	660					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1979G>C	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303492	0.81136	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95413	0.8500	10	0.59425	D	0.04	-24.6992	16.6192	0.84925	0.0:1.0:0.0:0.0	.	541;660	F5H2Q8;O75382	.;TRIM3_HUMAN	A	660;660;660;660;649;582;660;541	ENSP00000433102:G660A;ENSP00000340797:G660A;ENSP00000441091:G582A;ENSP00000352508:G660A;ENSP00000445460:G541A	ENSP00000337094:G649A	G	-	2	0	TRIM3	6427215	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.651000	0.83577	2.492000	0.84095	0.563000	0.77884	GGC		0.602	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	29	0	0	0	1	0	4	29				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(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	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579312C>T	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.375+1G>A	17.37:g.7579312C>T		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_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	p.T125_splice	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)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	49	21	0	0	0	1	0	49	21				
KIF16B	55614	broad.mit.edu	37	20	16352371	16352371	+	Missense_Mutation	SNP	C	C	T	rs538666717		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:16352371C>T	ENST00000354981.2	-	21	3543	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCCTGAAGGCGTCTTTGGAC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19001	0.0		0.0	False		,,,				2504	0.001					ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3385-3387)cGc>cAc		kinesin family member 16B							167.0	137.0	147.0					20																	16352371		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16352371C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3386G>A	20.37:g.16352371C>T	ENSP00000347076:p.Arg1129His					KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H	p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			21	3543	-			1129					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3386G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259090	0.95368	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.81078	-0.71;-0.84;1.71;-1.45	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.59436	1.845	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88793	0.3279	10	0.72032	D	0.01	.	20.0583	0.97661	0.0:1.0:0.0:0.0	.	1129;1129;1129	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	H	1129;1129;973;355;1129	ENSP00000347076:R1129H;ENSP00000347995:R1129H;ENSP00000367242:R355H;ENSP00000384164:R1129H	ENSP00000347076:R1129H	R	-	2	0	KIF16B	16300371	1.000000	0.71417	0.989000	0.46669	0.561000	0.35649	7.040000	0.76551	2.743000	0.94032	0.643000	0.83706	CGC		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		9	154	0	0	0	1	0	9	154				
RBM12B	389677	broad.mit.edu	37	8	94746794	94746794	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr8:94746794C>G	ENST00000399300.2	-	3	2058	c.1845G>C	c.(1843-1845)agG>agC	p.R615S	RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	615							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTCCTCCTCCCTAGGGTGCC	0.642																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1843-1845)agG>agC		RNA binding motif protein 12B							49.0	51.0	50.0					8																	94746794		1864	4110	5974	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746794C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1845G>C	8.37:g.94746794C>G	ENSP00000382239:p.Arg615Ser					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S	p.R615S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2058	-	Breast(36;4.14e-07)		615					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1845G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214741	0.58452	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06528	3.29;3.32	4.16	-1.52	0.08637	.	.	.	.	.	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.53360	0.724	T	0.28202	-1.0051	9	0.66056	D	0.02	-6.6933	1.7471	0.02964	0.1395:0.4542:0.1368:0.2696	.	615	Q8IXT5	RB12B_HUMAN	S	615	ENSP00000382239:R615S;ENSP00000427729:R615S	ENSP00000382239:R615S	R	-	3	2	RBM12B	94815970	0.000000	0.05858	0.004000	0.12327	0.961000	0.63080	-1.617000	0.02051	-0.293000	0.08986	-0.145000	0.13849	AGG		0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	81	0	0	0	1	0	11	81				
MEN1	4221	broad.mit.edu	37	11	64571946	64571946	+	Silent	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:64571946G>A	ENST00000337652.1	-	10	2211	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000377321.1_Silent_p.L530L|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000394376.1_Silent_p.L570L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Silent_p.L565L|MEN1_ENST00000394374.2_Silent_p.L570L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	570					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCACCAGCAGCTCCTTC	0.577			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1708-1710)Ctg>Ttg		multiple endocrine neoplasia I							196.0	171.0	179.0					11																	64571946		2201	4297	6498	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64571946G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1708C>T	11.37:g.64571946G>A						MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Silent_p.L565L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377321.1_Silent_p.L530L	p.L570L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	2211	-			570					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1708C>T	CCDS8083.1																																																																																				0.577	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			24	178	0	0	0	1	0	24	178				
MYO9A	4649	broad.mit.edu	37	15	72324886	72324886	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr15:72324886C>T	ENST00000356056.5	-	3	1356	c.884G>A	c.(883-885)cGt>cAt	p.R295H	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	295	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCCAAAACGACTTGAATT	0.328																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(883-885)cGt>cAt		myosin IXA							104.0	98.0	100.0					15																	72324886		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72324886C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.884G>A	15.37:g.72324886C>T	ENSP00000348349:p.Arg295His					MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H|RP11-390D11.1_ENST00000568391.1_RNA	p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			3	1356	-			295			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.884G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197908	0.94997	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.84516	-1.86;-1.86;-1.86	4.99	4.99	0.66335	Myosin head, motor domain (3);	.	.	.	.	D	0.95101	0.8413	H	0.97732	4.065	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	P;P;D	0.68353	0.908;0.908;0.957	D	0.97000	0.9728	9	0.87932	D	0	.	17.0297	0.86457	0.0:1.0:0.0:0.0	.	295;295;295	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	295	ENSP00000348349:R295H;ENSP00000399162:R295H;ENSP00000398250:R295H	ENSP00000261864:R295H	R	-	2	0	MYO9A	70111940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.306000	0.77630	0.561000	0.74099	CGT		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		22	44	0	0	0	1	0	22	44				
KCNJ6	3763	broad.mit.edu	37	21	38997768	38997768	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:38997768C>T	ENST00000609713.1	-	4	1554	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	322					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTAGGAGCTTCGAGCTTGGCA	0.527																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(964-966)cGa>cAa		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						68.0	73.0	71.0					21																	38997768		2087	4233	6320	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997768C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.965G>A	21.37:g.38997768C>T	ENSP00000477437:p.Arg322Gln					KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	p.R322Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1554	-			322					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.965G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319286	0.95682	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.94758	-3.51;-3.51	5.99	5.99	0.97316	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	H	0.94886	3.595	0.80722	D	1	D	0.58970	0.984	P	0.46026	0.501	D	0.97495	1.0056	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	322	P48051	IRK6_HUMAN	Q	322	ENSP00000383330:R322Q;ENSP00000288309:R322Q	ENSP00000288309:R322Q	R	-	2	0	KCNJ6	37919638	1.000000	0.71417	0.819000	0.32651	0.976000	0.68499	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CGA		0.527	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		24	33	0	0	0	1	0	24	33				
NUDT19	390916	broad.mit.edu	37	19	33183494	33183494	+	Missense_Mutation	SNP	C	C	G	rs376287006		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:33183494C>G	ENST00000397061.3	+	1	628	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	210	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGGCACCACTCGCCGCTTTGA	0.677													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15007	0.0		0.0	False		,,,				2504	0.0					ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(628-630)Cgc>Ggc		nudix (nucleoside diphosphate linked moiety X)-type motif 19							14.0	15.0	15.0					19																	33183494		2001	4151	6152	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183494C>G		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.628C>G	19.37:g.33183494C>G	ENSP00000380251:p.Arg210Gly						p.R210G	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	628	+	Esophageal squamous(110;0.137)		210			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.628C>G	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	c	19.15	3.771633	0.69992	.	.	ENSG00000213965	ENST00000397061	T	0.07444	3.19	4.85	3.78	0.43462	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.562638	0.15886	U	0.239798	T	0.26085	0.0636	M	0.87758	2.905	0.29566	N	0.850271	P	0.52842	0.956	P	0.56163	0.793	T	0.06844	-1.0804	10	0.54805	T	0.06	-12.351	11.5279	0.50591	0.2819:0.7181:0.0:0.0	.	210	A8MXV4	NUD19_HUMAN	G	210	ENSP00000380251:R210G	ENSP00000380251:R210G	R	+	1	0	NUDT19	37875334	0.009000	0.17119	0.304000	0.25085	0.082000	0.17680	1.565000	0.36386	2.254000	0.74563	0.486000	0.48141	CGC		0.677	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		3	21	0	0	0	1	0	3	21				
ABCC6	368	broad.mit.edu	37	16	16276377	16276377	+	Silent	SNP	G	G	A	rs115546382		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCTCCTGCCCGAAGCACACAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18615	0.001		0.0	False		,,,				2504	0.0					ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(2137-2139)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							78.0	68.0	71.0					16																	16276377		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276377G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2139C>T	16.37:g.16276377G>A						ABCC6_ENST00000574094.1_Intron	p.F713F	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2168	-			713			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.2139C>T	CCDS10568.1																																																																																				0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			26	40	0	0	0	1	0	26	40				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	66	0	0	0	1	0	31	66				
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A	rs569393753		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0.0	0.0014	5008	,	,		15312	0.0		0.0	False		,,,				2504	0.0					ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(571-573)tCg>tTg		lipoma HMGIC fusion partner							107.0	89.0	95.0					13																	39918104		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39918104G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.572C>T	13.37:g.39918104G>A	ENSP00000368908:p.Ser191Leu						p.S191L	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	4	1034	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	191					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.572C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281482	0.80692	.	.	ENSG00000183722	ENST00000379589	T	0.76448	-1.02	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000032	T	0.62756	0.2454	N	0.19112	0.55	0.51767	D	0.999931	P	0.43662	0.814	B	0.34385	0.181	T	0.64474	-0.6399	9	.	.	.	.	17.8177	0.88640	0.0:0.0:1.0:0.0	.	191	Q9Y693	LHFP_HUMAN	L	191	ENSP00000368908:S191L	.	S	-	2	0	LHFP	38816104	1.000000	0.71417	0.940000	0.37924	0.793000	0.44817	9.363000	0.97131	2.459000	0.83118	0.557000	0.71058	TCG		0.557	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		47	58	0	0	0	1	0	47	58				
NUP98	4928	broad.mit.edu	37	11	3700842	3700842	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:3700842G>C	ENST00000324932.7	-	31	5435	c.5015C>G	c.(5014-5016)tCt>tGt	p.S1672C	NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1689					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAAGCCCAGATGTTTCCCA	0.463			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5014-5016)tCt>tGt		nucleoporin 98kDa							94.0	87.0	89.0					11																	3700842		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3700842G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5015C>G	11.37:g.3700842G>C	ENSP00000316032:p.Ser1672Cys					NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	p.S1672C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	31	5435	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1689					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5015C>G	CCDS7746.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.9|23.9|23.9	4.473629|4.473629|4.473629	0.84640|0.84640|0.84640	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000533346|ENST00000324932;ENST00000359171;ENST00000355260	.|.|.	.|.|.	.|.|.	5.58|5.58|5.58	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|.|0.124396	.|.|0.52532	.|.|D	.|.|0.000063	T|T|T	0.54498|0.54498|0.54498	0.1862|0.1862|0.1862	L|L|L	0.43152|0.43152|0.43152	1.355|1.355|1.355	0.26923|0.26923|0.26923	N|N|N	0.966625|0.966625|0.966625	.|.|D;D;P	.|.|0.67145	.|.|0.996;0.972;0.925	.|.|D;P;P	.|.|0.65987	.|.|0.94;0.792;0.639	T|T|T	0.52102|0.52102|0.52102	-0.8620|-0.8620|-0.8620	5|5|9	.|.|0.87932	.|.|D	.|.|0	-7.6774|-7.6774|-7.6774	14.1217|14.1217|14.1217	0.65192|0.65192|0.65192	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.|.	.|.|1598;1672;1586	.|.|P52948-2;P52948-5;P52948-6	.|.|.;.;.	M|V|C	624|26|1672;1598;1598	.|.|.	.|.|ENSP00000316032:S1672C	I|L|S	-|-|-	3|1|2	3|2|0	NUP98|NUP98|NUP98	3657418|3657418|3657418	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.983000|0.983000|0.983000	0.72400|0.72400|0.72400	9.586000|9.586000|9.586000	0.98226|0.98226|0.98226	1.510000|1.510000|1.510000	0.48803|0.48803|0.48803	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	ATC|CTG|TCT		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		26	54	0	0	0	1	0	26	54				
MS4A4A	51338	broad.mit.edu	37	11	60059749	60059749	+	Silent	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:60059749A>G	ENST00000337908.4	+	2	183	c.93A>G	c.(91-93)ccA>ccG	p.P31P	MS4A4A_ENST00000532114.1_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P|MS4A4A_ENST00000355131.3_Silent_p.P12P	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGCCATGCCAGGGGCTGGCC	0.473																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(34-36)ccA>ccG		membrane-spanning 4-domains, subfamily A, member 4A							75.0	76.0	75.0					11																	60059749		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60059749A>G	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.93A>G	11.37:g.60059749A>G						MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000532114.1_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P	p.P12P	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			3	259	+			31					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.36A>G	CCDS7982.1																																																																																				0.473	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			12	73	0	0	0	1	0	12	73				
APOC1P1	342	broad.mit.edu	37	19	45430262	45430262	+	RNA	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45430262G>A	ENST00000574565.1	+	0	53					NR_028412.1				apolipoprotein C-I pseudogene 1																		TCCCGGTCCTGGTGGTGGTTC	0.627																																						ENST00000574565.1																			0																																																			0							g.chr19:45430262G>A	M20903		19q13.32	2014-03-18			ENSG00000214855	ENSG00000214855			608	pseudogene	pseudogene							Standard	NR_028412		Approved		uc021uvm.1		OTTHUMG00000177534		19.37:g.45430262G>A								NR_028412.1						0	53	+									RNA	SNP	ENST00000574565.1	37																																																																																						0.627	APOC1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437392.1			6	18	0	0	0	1	0	6	18				
SLC26A9	115019	broad.mit.edu	37	1	205888009	205888009	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:205888009C>T	ENST00000367135.3	-	19	2328	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	739					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTAGCATTTGCCTGGGCAAAG	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2215-2217)Gca>Aca		solute carrier family 26 (anion exchanger), member 9							273.0	258.0	263.0					1																	205888009		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888009C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2215G>A	1.37:g.205888009C>T	ENSP00000356103:p.Ala739Thr		OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T	p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2328	-	Breast(84;0.201)		739					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2215G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415863	0.42817	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92965	-3.14;-3.11;-3.14	5.09	5.09	0.68999	.	0.214681	0.40640	N	0.001055	D	0.86678	0.5990	L	0.32530	0.975	0.35553	D	0.804075	B;P	0.43094	0.361;0.799	B;B	0.40901	0.102;0.343	D	0.87223	0.2255	10	0.18710	T	0.47	.	12.9013	0.58126	0.0:0.9206:0.0:0.0794	.	739;739	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	739	ENSP00000341682:A739T;ENSP00000356103:A739T;ENSP00000356102:A739T	ENSP00000341682:A739T	A	-	1	0	SLC26A9	204154632	1.000000	0.71417	0.109000	0.21407	0.596000	0.36781	3.221000	0.51215	2.512000	0.84698	0.563000	0.77884	GCA		0.522	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		6	237	0	0	0	1	0	6	237				
LMAN2L	81562	broad.mit.edu	37	2	97403691	97403691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:97403691G>A	ENST00000264963.4	-	2	323	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	101	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTTACCACCCGGTTCCACAAG	0.483																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(301-303)Cgg>Tgg		lectin, mannose-binding 2-like							145.0	144.0	144.0					2																	97403691		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97403691G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.301C>T	2.37:g.97403691G>A	ENSP00000264963:p.Arg101Trp					LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000537039.1_Intron	p.R101W	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			2	323	-			101			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.301C>T	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180226	0.78677	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.65178	-0.14;-0.14	5.42	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.94;0.985	T	0.82926	-0.0215	10	0.87932	D	0	.	8.8094	0.34959	0.0795:0.0:0.7712:0.1494	.	101;101	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	W	101	ENSP00000264963:R101W;ENSP00000366280:R101W	ENSP00000264963:R101W	R	-	1	2	LMAN2L	96767418	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.030000	0.70903	1.293000	0.44690	-0.258000	0.10820	CGG		0.483	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		6	63	0	0	0	1	0	6	63				
FCER1A	2205	broad.mit.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(595-597)cGt>cAt		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						116.0	104.0	108.0					1																	159277544		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159277544G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.596G>A	1.37:g.159277544G>A	ENSP00000357097:p.Arg199His					FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	p.R199H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			6	695	+	all_hematologic(112;0.0429)		199						Missense_Mutation	SNP	ENST00000368115.1	37	c.596G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441382	0.25900	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02050	4.82;4.48	5.37	-8.56	0.00904	.	9.584880	0.00166	N	0.000000	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	10	0.42905	T	0.14	.	0.8386	0.01145	0.2503:0.329:0.2067:0.214	.	199	P12319	FCERA_HUMAN	H	199;166	ENSP00000357097:R199H;ENSP00000357096:R166H	ENSP00000357096:R166H	R	+	2	0	FCER1A	157544168	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.271000	0.02430	-2.604000	0.00161	CGT		0.413	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		26	123	0	0	0	1	0	26	123				
OR7A17	26333	broad.mit.edu	37	19	14991465	14991465	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:14991465A>T	ENST00000327462.2	-	1	799	c.703T>A	c.(703-705)Tac>Aac	p.Y235N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AATGCCTTGTACTTCCCCTGA	0.502																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(703-705)Tac>Aac		olfactory receptor, family 7, subfamily A, member 17							107.0	95.0	99.0					19																	14991465		2203	4298	6501	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991465A>T	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.703T>A	19.37:g.14991465A>T	ENSP00000328144:p.Tyr235Asn						p.Y235N	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	799	-	Ovarian(108;0.203)		235					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.703T>A	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	a	7.289	0.610664	0.14066	.	.	ENSG00000185385	ENST00000327462	T	0.00084	8.75	3.37	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.458821	0.16171	U	0.226298	T	0.00300	0.0009	M	0.75615	2.305	0.09310	N	1	P	0.35894	0.526	P	0.53313	0.723	T	0.39781	-0.9597	10	0.66056	D	0.02	.	0.8648	0.01201	0.4856:0.2018:0.1168:0.1958	.	235	O14581	OR7AH_HUMAN	N	235	ENSP00000328144:Y235N	ENSP00000328144:Y235N	Y	-	1	0	OR7A17	14852465	0.000000	0.05858	0.073000	0.20177	0.008000	0.06430	-1.118000	0.03280	0.074000	0.16767	-0.721000	0.03606	TAC		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		13	114	0	0	0	1	0	13	114				
PKHD1	5314	broad.mit.edu	37	6	51890079	51890079	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr6:51890079G>A	ENST00000371117.3	-	32	4804	c.4529C>T	c.(4528-4530)gCc>gTc	p.A1510V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1510	IPT/TIG 10.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTGGTGGCTAACCTCTG	0.473																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(4528-4530)gCc>gTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							81.0	75.0	77.0					6																	51890079		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890079G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4529C>T	6.37:g.51890079G>A	ENSP00000360158:p.Ala1510Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4804	-	Lung NSC(77;0.0605)		1510			IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4529C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668021	0.29604	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77098	-1.07;-1.07	5.56	1.22	0.21188	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.333710	0.29286	N	0.012595	T	0.59797	0.2220	L	0.38175	1.15	0.09310	N	1	B;P	0.39443	0.127;0.674	B;P	0.48921	0.197;0.595	T	0.55717	-0.8097	10	0.66056	D	0.02	.	6.9845	0.24721	0.1089:0.4219:0.3974:0.0717	.	1510;1510	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1510	ENSP00000360158:A1510V;ENSP00000341097:A1510V	ENSP00000341097:A1510V	A	-	2	0	PKHD1	51998038	0.000000	0.05858	0.006000	0.13384	0.658000	0.38924	0.319000	0.19522	0.364000	0.24374	-0.139000	0.14373	GCC		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		61	99	0	0	0	1	0	61	99				
SSPO	23145	broad.mit.edu	37	7	149505350	149505350	+	RNA	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:149505350T>C	ENST00000378016.2	+	0	8908							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGCACCTGTGTCTCTGG	0.607																																						ENST00000378016.2																			0													SCO-spondin							115.0	120.0	119.0					7																	149505350		2044	4208	6252			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149505350T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149505350T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8908	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	174	0	0	0	1	0	4	174				
TUB	7275	broad.mit.edu	37	11	8115663	8115663	+	Missense_Mutation	SNP	G	G	C	rs191273787		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8115663G>C	ENST00000299506.2	+	4	473	c.324G>C	c.(322-324)aaG>aaC	p.K108N	TUB_ENST00000534099.1_Missense_Mutation_p.K114N|TUB_ENST00000305253.4_Missense_Mutation_p.K163N	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	108					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTTCAGCCAAGAGAACCAAGG	0.602																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(487-489)aaG>aaC		tubby bipartite transcription factor							57.0	58.0	58.0					11																	8115663		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8115663G>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.324G>C	11.37:g.8115663G>C	ENSP00000299506:p.Lys108Asn					TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N	p.K163N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	5	730	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	108					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.489G>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486102	0.26686	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86297	-2.08;-2.1;-2.06	4.71	3.66	0.41972	Tubby, N-terminal (1);	0.221032	0.47455	D	0.000221	D	0.86020	0.5833	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.78314	0.981;0.981;0.991	T	0.81048	-0.1109	10	0.17832	T	0.49	-9.3344	6.6444	0.22927	0.3356:0.0:0.6644:0.0	.	114;108;163	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	N	114;163;108	ENSP00000434400:K114N;ENSP00000305426:K163N;ENSP00000299506:K108N	ENSP00000299506:K108N	K	+	3	2	TUB	8072239	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.754000	0.55189	1.075000	0.40932	0.591000	0.81541	AAG		0.602	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		77	173	0	0	0	1	0	77	173				
NPIPB6	728741	broad.mit.edu	37	16	28354093	28354093	+	Silent	SNP	T	T	C	rs540602415	byFrequency	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28354093T>C	ENST00000532254.1	-	7	1798	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S	NPIPB6_ENST00000533640.1_Silent_p.S353S	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	371																	TGGGTTTCGGTGATTGTTCCA	0.557													.|||	107	0.0213658	0.0008	0.0159	5008	,	,		24594	0.0149		0.0467	False		,,,				2504	0.0337					ENST00000532254.1																			0											c.(1111-1113)tcA>tcG		nuclear pore complex interacting protein family, member B6																																				SO:0001819	synonymous_variant	728741							g.chr16:28354093T>C		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.1113A>G	16.37:g.28354093T>C						NPIPB6_ENST00000533640.1_Silent_p.S353S	p.S371S							7	1798	-									Silent	SNP	ENST00000532254.1	37	c.1113A>G																																																																																					0.557	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		5	8	0	0	0	1	0	5	8				
SMARCA4	6597	broad.mit.edu	37	19	11123706	11123706	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:11123706A>G	ENST00000429416.3	+	17	2637	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	SMARCA4_ENST00000358026.2_Missense_Mutation_p.T786A|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTGGGGAAGACCATCCAGAC	0.577			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2356-2358)Acc>Gcc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							179.0	111.0	134.0					19																	11123706		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123706A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2356A>G	19.37:g.11123706A>G	ENSP00000395654:p.Thr786Ala					SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A	p.T786A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2640	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	786			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2356A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583028	0.86748	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.99777	4.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;1.0;1.0	D	0.96851	0.9625	10	0.87932	D	0	-47.2375	13.3423	0.60551	1.0:0.0:0.0:0.0	.	786;786;786;786;786;786;786	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	786;786;850;786;786;786;786;786	ENSP00000395654:T786A;ENSP00000350720:T786A;ENSP00000343896:T786A;ENSP00000445036:T786A;ENSP00000392837:T786A;ENSP00000397783:T786A;ENSP00000414727:T786A	ENSP00000343896:T786A	T	+	1	0	SMARCA4	10984706	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.139000	0.94554	1.988000	0.58038	0.533000	0.62120	ACC		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	60	0	0	0	1	0	9	60				
SPAG5	10615	broad.mit.edu	37	17	26912593	26912593	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:26912593G>A	ENST00000321765.5	-	8	2151	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	607	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.R607W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGAATTCCCGCATGGATGCT	0.537																																						ENST00000321765.5																			1	Substitution - Missense(1)	p.R607W(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1819-1821)Cgg>Tgg		sperm associated antigen 5							132.0	126.0	128.0					17																	26912593		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912593G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1819C>T	17.37:g.26912593G>A	ENSP00000323300:p.Arg607Trp						p.R607W	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			8	2151	-	Lung NSC(42;0.00431)		607					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.1819C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753805	0.15778	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.63	-0.355	0.12587	.	1.218310	0.05662	N	0.586983	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	P	0.45078	0.85	B	0.39152	0.292	T	0.25082	-1.0142	9	0.87932	D	0	-0.0205	7.6411	0.28294	0.0:0.323:0.3178:0.3592	.	607	Q96R06	SPAG5_HUMAN	W	607;104	.	ENSP00000323300:R607W	R	-	1	2	SPAG5	23936720	0.002000	0.14202	0.084000	0.20598	0.118000	0.20060	-0.443000	0.06862	0.027000	0.15297	0.655000	0.94253	CGG		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		5	258	0	0	0	1	0	5	258				
ZNF716	441234	broad.mit.edu	37	7	57528588	57528588	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:57528588G>T	ENST00000420713.1	+	4	533	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCACAAAGGAGGTTATAATTA	0.343																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(421-423)Ggt>Tgt		zinc finger protein 716							213.0	204.0	206.0					7																	57528588		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528588G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.421G>T	7.37:g.57528588G>T	ENSP00000394248:p.Gly141Cys						p.G141C	NM_001159279.1	NP_001152751.1					4	533	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.421G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099783	0.20552	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05319	3.46	0.195	0.195	0.15151	.	.	.	.	.	T	0.11580	0.0282	L	0.33293	1	0.19300	N	0.999979	D	0.76494	0.999	D	0.65573	0.936	T	0.24835	-1.0149	8	0.51188	T	0.08	.	.	.	.	.	129	A6NP11	ZN716_HUMAN	C	141;129	ENSP00000394248:G141C	ENSP00000387687:G129C	G	+	1	0	ZNF716	57532530	0.004000	0.15560	0.166000	0.22797	0.168000	0.22595	0.233000	0.17911	0.300000	0.22699	0.306000	0.20318	GGT		0.343	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		19	33	1	0	2.35188e-11	1	2.40301e-11	19	33				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	226	0	0	0	1	0	6	226				
TSIX	9383	broad.mit.edu	37	X	73046569	73046569	+	lincRNA	SNP	A	A	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chrX:73046569A>T	ENST00000604411.1	+	0	34530				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TAGTCTTGAGATACCTTTTTC	0.517																																						ENST00000604411.1																			0																				177.0	165.0	168.0					X																	73046569		876	1991	2867			0							g.chrX:73046569A>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046569A>T						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34530	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.517	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		6	63	0	0	0	1	0	6	63				
TUB	7275	broad.mit.edu	37	11	8117074	8117074	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8117074G>C	ENST00000299506.2	+	5	576	c.427G>C	c.(427-429)Gac>Cac	p.D143H	TUB_ENST00000534099.1_Missense_Mutation_p.D149H|TUB_ENST00000305253.4_Missense_Mutation_p.D198H	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	143					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTGGCAGAAGACAAGTCTGA	0.652																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(592-594)Gac>Cac		tubby bipartite transcription factor							33.0	36.0	35.0					11																	8117074		2199	4294	6493	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117074G>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.427G>C	11.37:g.8117074G>C	ENSP00000299506:p.Asp143His					TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H	p.D198H	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	833	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	143			Asp/Glu-rich.		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.592G>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349181	0.61183	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86097	-2.04;-2.07;-2.04	5.22	4.29	0.51040	Tubby, N-terminal (1);	0.785677	0.11945	N	0.514340	D	0.84515	0.5489	L	0.47190	1.495	0.53005	D	0.999966	P;P;P	0.49090	0.744;0.868;0.919	B;B;P	0.46208	0.31;0.31;0.507	T	0.82808	-0.0274	10	0.56958	D	0.05	-17.1212	14.2054	0.65730	0.0:0.0:0.8488:0.1512	.	149;143;198	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	H	149;198;143	ENSP00000434400:D149H;ENSP00000305426:D198H;ENSP00000299506:D143H	ENSP00000299506:D143H	D	+	1	0	TUB	8073650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.538000	0.67193	1.298000	0.44778	0.655000	0.94253	GAC		0.652	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		56	24	0	0	0	1	0	56	24				
SYNJ1	8867	broad.mit.edu	37	21	34029205	34029205	+	Missense_Mutation	SNP	C	C	T	rs377350366		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:34029205C>T	ENST00000322229.7	-	20	2586	c.2587G>A	c.(2587-2589)Gtt>Att	p.V863I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I|SYNJ1_ENST00000382499.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I			O43426	SYNJ1_HUMAN	synaptojanin 1	863	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATCAGGGCAACGACAGGCCTT	0.343																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2704-2706)Gtt>Att		synaptojanin 1		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	87.0	89.0	88.0		2704,2704,2572,2587	0.6	0.1	21		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYNJ1	NM_203446.2,NM_003895.3,NM_001160306.1,NM_001160302.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	902/1351,902/1613,858/1527,863/1296	34029205	1,13005	2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34029205C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2587G>A	21.37:g.34029205C>T	ENSP00000322234:p.Val863Ile					SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I	p.V902I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			21	2703	-			863			Pro-rich.|RRM.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2704G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894444	0.17613	0.0	1.16E-4	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.64	0.619	0.17630	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.300212	0.35936	N	0.002881	D	0.86130	0.5859	N	0.25485	0.75	0.80722	D	1	B;B;P;B;P	0.48911	0.041;0.101;0.851;0.001;0.917	B;B;B;B;B	0.39379	0.019;0.025;0.238;0.002;0.298	T	0.80502	-0.1354	10	0.10636	T	0.68	.	9.7779	0.40630	0.0:0.6542:0.0:0.3458	.	858;902;863;863;863	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	858;863;902;902;863	ENSP00000371931:V858I;ENSP00000349903:V863I;ENSP00000371939:V902I;ENSP00000409667:V902I;ENSP00000322234:V863I	ENSP00000322234:V863I	V	-	1	0	SYNJ1	32951076	0.576000	0.26700	0.084000	0.20598	0.994000	0.84299	1.194000	0.32174	-0.164000	0.10927	-0.194000	0.12790	GTT		0.343	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	83	0	0	0	1	0	11	83				
MAPK8IP2	23542	broad.mit.edu	37	22	51044141	51044141	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr22:51044141G>A	ENST00000399908.2	+	5	1911	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	665	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGTGCCCGGCCCTGCCAA	0.672																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1195-1197)Ggc>Agc		mitogen-activated protein kinase 8 interacting protein 2							31.0	37.0	35.0					22																	51044141		2084	4206	6290	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044141G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1195G>A	22.37:g.51044141G>A	ENSP00000382792:p.Gly399Ser					MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S	p.G399S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1911	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	665					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1195G>A		.	.	.	.	.	.	.	.	.	.	G	16.09	3.023016	0.54683	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.27890	2.64;2.64;2.64;2.64;2.64;1.64	5.15	5.15	0.70609	Src homology-3 domain (2);	0.052231	0.85682	D	0.000000	T	0.41143	0.1146	.	.	.	0.49915	D	0.999835	D;D	0.89917	1.0;1.0	P;P	0.61070	0.883;0.746	T	0.05225	-1.0898	9	0.18276	T	0.48	-14.2784	11.0972	0.48152	0.0:0.0:0.8155:0.1845	.	637;665	E7EQG6;Q13387	.;JIP2_HUMAN	S	399;664;387;285;399;370	ENSP00000382796:G399S;ENSP00000330572:G664S;ENSP00000404914:G387S;ENSP00000340015:G285S;ENSP00000382792:G399S;ENSP00000008876:G370S	ENSP00000008876:G370S	G	+	1	0	MAPK8IP2	49391007	0.962000	0.33011	0.949000	0.38748	0.192000	0.23643	1.649000	0.37281	2.686000	0.91538	0.650000	0.86243	GGC		0.672	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		4	28	0	0	0	1	0	4	28				
RP11-344E13.3	0	broad.mit.edu	37	17	20805603	20805603	+	RNA	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:20805603G>A	ENST00000577537.1	+	0	787				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA																							GGCCTTCTACGCCCATTACTG	0.567																																						ENST00000577537.1																			0																																																			0							g.chr17:20805603G>A																													17.37:g.20805603G>A						RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA								0	787	+									RNA	SNP	ENST00000577537.1	37																																																																																						0.567	RP11-344E13.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000444041.1			5	164	0	0	0	1	0	5	164				
PTCHD3	374308	broad.mit.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A	rs376677291		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.Y270Y(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(808-810)taC>taT		patched domain containing 3		A		1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		810	0.1	0.0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702370G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A							p.Y270Y	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	927	-			270					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.810C>T	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	53	0	0	0	1	0	7	53				
CEP78	84131	broad.mit.edu	37	9	80880816	80880816	+	Intron	DEL	A	A	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr9:80880816delA	ENST00000424347.2	+	14	2086				CEP78_ENST00000277082.5_Intron|CEP78_ENST00000376597.4_Frame_Shift_Del_p.L614fs|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000415759.2_Intron			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGGAACACTAATGAAGGTAC	0.294																																						ENST00000376597.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1840-1842)ctfs		centrosomal protein 78kDa							24.0	24.0	24.0					9																	80880816		1765	3911	5676	SO:0001627	intron_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80880816delA	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1797+357A>-	9.37:g.80880816delA						CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron	p.L614fs	NM_001098802.1	NP_001092272.1	Q5JTW2	CEP78_HUMAN			15	1986	+			599					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Frame_Shift_Del	DEL	ENST00000424347.2	37	c.1842delA																																																																																					0.294	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		2	4						2	4	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45656283	45656283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45656283delC	ENST00000438936.2	-	3	957	c.746delG	c.(745-747)ggcfs	p.G249fs	NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000317951.4_Frame_Shift_Del_p.G471fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	249	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTGAGCACGCCCACCACGCG	0.662																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1411-1413)gcfs		NTPase, KAP family P-loop domain containing 1							11.0	14.0	13.0					19																	45656283		2150	4226	6376	SO:0001589	frameshift_variant	284353							g.chr19:45656283delC	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.746delG	19.37:g.45656283delC	ENSP00000401739:p.Gly249fs					NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs	p.G471fs	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1411	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Frame_Shift_Del	DEL	ENST00000438936.2	37	c.1412delG																																																																																					0.662	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		2	4						2	4	---	---	---	---
