#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
C17orf97	400566	genome.wustl.edu	37	17	263442	263442	+	Missense_Mutation	SNP	G	G	A	rs200834723		TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr17:263442G>A	ENST00000360127.6	+	2	824	c.808G>A	c.(808-810)Gag>Aag	p.E270K	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	300	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.E270K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCTGAGGCCCTCAA	0.687																																						dbGAP											1	Substitution - Missense(1)	skin(1)											17.0	19.0	18.0					17																	263442		2169	4241	6410	-	-	-	SO:0001583	missense	0			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.808G>A	17.37:g.263442G>A	ENSP00000353245:p.Glu270Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	NULL	p.E270K	ENST00000360127.6	37	c.808	CCDS32519.2	17	.	.	.	.	.	.	.	.	.	.	G	0.210	-1.037086	0.02013	.	.	ENSG00000187624	ENST00000360127	T	0.31510	1.49	2.04	-4.08	0.03963	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.12837	0.008	T	0.29971	-0.9994	9	0.06494	T	0.89	.	1.3996	0.02268	0.1558:0.3108:0.3505:0.1829	.	270	Q6ZQX7-4	.	K	270	ENSP00000353245:E270K	ENSP00000353245:E270K	E	+	1	0	C17orf97	263788	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.107000	0.31110	-1.216000	0.02607	0.195000	0.17529	GAG	C17orf97	-	NULL	ENSG00000187624		0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	HGNC	protein_coding	OTTHUMT00000255648.4	28	0.00	0	G	NM_001013672		263442	263442	+1	no_errors	ENST00000360127	ensembl	human	known	69_37n	missense	4	42.86	3	SNP	0.000	A
C17orf53	78995	genome.wustl.edu	37	17	42226188	42226188	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr17:42226188C>T	ENST00000319977.4	+	3	1254	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	C17orf53_ENST00000245382.6_Silent_p.P339P|C17orf53_ENST00000585683.1_Silent_p.P339P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	339								p.P339P(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCGGATACCCTTACAACCGC	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											230.0	223.0	225.0					17																	42226188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1017C>T	17.37:g.42226188C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.P339	ENST00000319977.4	37	c.1017	CCDS11477.1	17																																																																																			C17orf53	-	NULL	ENSG00000125319		0.527	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	209	0.00	0	C	NM_024032		42226188	42226188	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	silent	120	16.67	24	SNP	0.000	T
C17orf53	78995	genome.wustl.edu	37	17	42226188	42226188	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr17:42226188C>T	ENST00000319977.4	+	3	1254	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	C17orf53_ENST00000245382.6_Silent_p.P339P|C17orf53_ENST00000585683.1_Silent_p.P339P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	339								p.P339P(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCGGATACCCTTACAACCGC	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											230.0	223.0	225.0					17																	42226188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1017C>T	17.37:g.42226188C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.P339	ENST00000319977.4	37	c.1017	CCDS11477.1	17																																																																																			C17orf53	-	NULL	ENSG00000125319		0.527	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	209	0.00	0	C	NM_024032		42226188	42226188	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	silent	93	18.42	21	SNP	0.000	T
CACNA1C	775	genome.wustl.edu	37	12	2714892	2714892	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr12:2714892C>T	ENST00000347598.4	+	25	3156	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	CACNA1C_ENST00000399629.1_Silent_p.I1032I|CACNA1C_ENST00000402845.3_Silent_p.I1032I|CACNA1C_ENST00000399601.1_Silent_p.I1032I|CACNA1C_ENST00000335762.5_Silent_p.I1057I|CACNA1C_ENST00000344100.3_Silent_p.I1032I|CACNA1C_ENST00000399595.1_Silent_p.I1032I|CACNA1C_ENST00000399597.1_Silent_p.I1032I|CACNA1C_ENST00000399638.1_Silent_p.I1032I|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399644.1_Silent_p.I1032I|CACNA1C_ENST00000327702.7_Silent_p.I1032I|CACNA1C_ENST00000399617.1_Silent_p.I1032I|CACNA1C_ENST00000399655.1_Silent_p.I1032I|CACNA1C_ENST00000399641.1_Silent_p.I1032I|CACNA1C_ENST00000399634.1_Silent_p.I1032I|CACNA1C_ENST00000480911.1_Silent_p.I1032I|CACNA1C_ENST00000399603.1_Silent_p.I1032I|CACNA1C_ENST00000399606.1_Silent_p.I1052I|CACNA1C_ENST00000399637.1_Silent_p.I1032I|CACNA1C_ENST00000399649.1_Silent_p.I1032I|CACNA1C_ENST00000399591.1_Silent_p.I1032I|CACNA1C_ENST00000406454.3_Silent_p.I1032I|CACNA1C_ENST00000399621.1_Silent_p.I1032I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1052					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1032I(2)|p.I567I(1)|p.I1052I(1)|p.I1082I(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGGGAACATCGTGATTGTCA	0.587																																						dbGAP											5	Substitution - coding silent(5)	breast(5)											181.0	167.0	172.0					12																	2714892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3156C>T	12.37:g.2714892C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I1032	ENST00000347598.4	37	c.3096	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	306	0.00	0	C	NM_000719		2714892	2714892	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	66	10.81	8	SNP	0.997	T
CACNA1C	775	genome.wustl.edu	37	12	2714892	2714892	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr12:2714892C>T	ENST00000347598.4	+	25	3156	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	CACNA1C_ENST00000399629.1_Silent_p.I1032I|CACNA1C_ENST00000402845.3_Silent_p.I1032I|CACNA1C_ENST00000399601.1_Silent_p.I1032I|CACNA1C_ENST00000335762.5_Silent_p.I1057I|CACNA1C_ENST00000344100.3_Silent_p.I1032I|CACNA1C_ENST00000399595.1_Silent_p.I1032I|CACNA1C_ENST00000399597.1_Silent_p.I1032I|CACNA1C_ENST00000399638.1_Silent_p.I1032I|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399644.1_Silent_p.I1032I|CACNA1C_ENST00000327702.7_Silent_p.I1032I|CACNA1C_ENST00000399617.1_Silent_p.I1032I|CACNA1C_ENST00000399655.1_Silent_p.I1032I|CACNA1C_ENST00000399641.1_Silent_p.I1032I|CACNA1C_ENST00000399634.1_Silent_p.I1032I|CACNA1C_ENST00000480911.1_Silent_p.I1032I|CACNA1C_ENST00000399603.1_Silent_p.I1032I|CACNA1C_ENST00000399606.1_Silent_p.I1052I|CACNA1C_ENST00000399637.1_Silent_p.I1032I|CACNA1C_ENST00000399649.1_Silent_p.I1032I|CACNA1C_ENST00000399591.1_Silent_p.I1032I|CACNA1C_ENST00000406454.3_Silent_p.I1032I|CACNA1C_ENST00000399621.1_Silent_p.I1032I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1052					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1032I(2)|p.I567I(1)|p.I1052I(1)|p.I1082I(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGGGAACATCGTGATTGTCA	0.587																																						dbGAP											5	Substitution - coding silent(5)	breast(5)											181.0	167.0	172.0					12																	2714892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3156C>T	12.37:g.2714892C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I1032	ENST00000347598.4	37	c.3096	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	306	0.00	0	C	NM_000719		2714892	2714892	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	86	10.42	10	SNP	0.997	T
DOCK4	9732	genome.wustl.edu	37	7	111629136	111629136	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr7:111629136T>A	ENST00000437633.1	-	6	654	c.398A>T	c.(397-399)cAc>cTc	p.H133L	DOCK4_ENST00000428084.1_Missense_Mutation_p.H133L|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	133					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.H133L(1)|p.H121L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGGGTGAGGTGGCCCACCAG	0.547																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	66.0	66.0					7																	111629136		2062	4213	6275	-	-	-	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.398A>T	7.37:g.111629136T>A	ENSP00000404179:p.His133Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.H133L	ENST00000437633.1	37	c.398	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.065864|4.065864	0.76187|0.76187	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02863|.	4.13;4.13|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.048321|.	0.85682|.	D|.	0.000000|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	B;P;P;B|.	0.37548|.	0.215;0.599;0.599;0.399|.	B;B;B;B|.	0.35607|.	0.101;0.206;0.206;0.146|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|5	0.45353|.	T|.	0.12|.	.|.	15.2728|15.2728	0.73717|0.73717	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	133;133;133;133|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	L|S	121;133;133;121;132|121	ENSP00000410746:H133L;ENSP00000404179:H133L|.	ENSP00000345432:H121L|.	H|T	-|-	2|1	0|0	DOCK4|DOCK4	111416372|111416372	1.000000|1.000000	0.71417|0.71417	0.734000|0.734000	0.30879|0.30879	0.990000|0.990000	0.78478|0.78478	7.988000|7.988000	0.88194|0.88194	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	CAC|ACC	DOCK4	-	NULL	ENSG00000128512		0.547	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	149	0.00	0	T	NM_014705		111629136	111629136	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	1.000	A
DOCK4	9732	genome.wustl.edu	37	7	111629136	111629136	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr7:111629136T>A	ENST00000437633.1	-	6	654	c.398A>T	c.(397-399)cAc>cTc	p.H133L	DOCK4_ENST00000428084.1_Missense_Mutation_p.H133L|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	133					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.H133L(1)|p.H121L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGGGTGAGGTGGCCCACCAG	0.547																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	66.0	66.0					7																	111629136		2062	4213	6275	-	-	-	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.398A>T	7.37:g.111629136T>A	ENSP00000404179:p.His133Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.H133L	ENST00000437633.1	37	c.398	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.065864|4.065864	0.76187|0.76187	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02863|.	4.13;4.13|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.048321|.	0.85682|.	D|.	0.000000|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	B;P;P;B|.	0.37548|.	0.215;0.599;0.599;0.399|.	B;B;B;B|.	0.35607|.	0.101;0.206;0.206;0.146|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|5	0.45353|.	T|.	0.12|.	.|.	15.2728|15.2728	0.73717|0.73717	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	133;133;133;133|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	L|S	121;133;133;121;132|121	ENSP00000410746:H133L;ENSP00000404179:H133L|.	ENSP00000345432:H121L|.	H|T	-|-	2|1	0|0	DOCK4|DOCK4	111416372|111416372	1.000000|1.000000	0.71417|0.71417	0.734000|0.734000	0.30879|0.30879	0.990000|0.990000	0.78478|0.78478	7.988000|7.988000	0.88194|0.88194	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	CAC|ACC	DOCK4	-	NULL	ENSG00000128512		0.547	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	149	0.00	0	T	NM_014705		111629136	111629136	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	A
FAM160A2	84067	genome.wustl.edu	37	11	6232828	6232828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr11:6232828delG	ENST00000449352.2	-	12	3090	c.2827delC	c.(2827-2829)cagfs	p.Q943fs	FAM160A2_ENST00000265978.4_Frame_Shift_Del_p.Q957fs|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	943					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCATGAGCCTGGGAGATGGCA	0.542																																						dbGAP											0													108.0	113.0	111.0					11																	6232828		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2827delC	11.37:g.6232828delG	ENSP00000416918:p.Gln943fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Del	DEL	pfam_RetinoicA-induced_16-like	p.Q957fs	ENST00000449352.2	37	c.2869	CCDS44530.1	11																																																																																			FAM160A2	-	NULL	ENSG00000051009		0.542	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	57	0.00	0	G	NM_032127		6232828	6232828	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
FAM160A2	84067	genome.wustl.edu	37	11	6232828	6232828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr11:6232828delG	ENST00000449352.2	-	12	3090	c.2827delC	c.(2827-2829)cagfs	p.Q943fs	FAM160A2_ENST00000265978.4_Frame_Shift_Del_p.Q957fs|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	943					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCATGAGCCTGGGAGATGGCA	0.542																																						dbGAP											0													108.0	113.0	111.0					11																	6232828		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2827delC	11.37:g.6232828delG	ENSP00000416918:p.Gln943fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Del	DEL	pfam_RetinoicA-induced_16-like	p.Q957fs	ENST00000449352.2	37	c.2869	CCDS44530.1	11																																																																																			FAM160A2	-	NULL	ENSG00000051009		0.542	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	57	0.00	0	G	NM_032127		6232828	6232828	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
HIST1H2BK	85236	genome.wustl.edu	37	6	27114334	27114334	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr6:27114334C>T	ENST00000356950.1	-	1	243	c.244G>A	c.(244-246)Gcg>Acg	p.A82T	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.A82T|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	82					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A82T(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGTAATGCGCCAGGCGGGAA	0.637																																						dbGAP											2	Substitution - Missense(2)	breast(2)											113.0	111.0	112.0					6																	27114334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.244G>A	6.37:g.27114334C>T	ENSP00000349430:p.Ala82Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P7|Q2VPI7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A82T	ENST00000356950.1	37	c.244	CCDS4621.1	6	.	.	.	.	.	.	.	.	.	.	.	24.3	4.517619	0.85495	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.28666	1.6;1.6	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	0.000000	0.37437	U	0.002094	T	0.48554	0.1506	M	0.84219	2.685	0.48762	D	0.999701	D	0.71674	0.998	D	0.68483	0.958	T	0.57579	-0.7787	10	0.72032	D	0.01	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	82	O60814	H2B1K_HUMAN	T	82	ENSP00000380100:A82T;ENSP00000349430:A82T	ENSP00000349430:A82T	A	-	1	0	HIST1H2BK	27222313	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.293000	0.65680	2.080000	0.62538	0.650000	0.86243	GCG	HIST1H2BK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197903		0.637	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	197	0.00	0	C	NM_080593		27114334	27114334	-1	no_errors	ENST00000356950	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	T
HIST1H2BK	85236	genome.wustl.edu	37	6	27114334	27114334	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr6:27114334C>T	ENST00000356950.1	-	1	243	c.244G>A	c.(244-246)Gcg>Acg	p.A82T	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.A82T|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	82					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A82T(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGTAATGCGCCAGGCGGGAA	0.637																																						dbGAP											2	Substitution - Missense(2)	breast(2)											113.0	111.0	112.0					6																	27114334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.244G>A	6.37:g.27114334C>T	ENSP00000349430:p.Ala82Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P7|Q2VPI7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A82T	ENST00000356950.1	37	c.244	CCDS4621.1	6	.	.	.	.	.	.	.	.	.	.	.	24.3	4.517619	0.85495	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.28666	1.6;1.6	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	0.000000	0.37437	U	0.002094	T	0.48554	0.1506	M	0.84219	2.685	0.48762	D	0.999701	D	0.71674	0.998	D	0.68483	0.958	T	0.57579	-0.7787	10	0.72032	D	0.01	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	82	O60814	H2B1K_HUMAN	T	82	ENSP00000380100:A82T;ENSP00000349430:A82T	ENSP00000349430:A82T	A	-	1	0	HIST1H2BK	27222313	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.293000	0.65680	2.080000	0.62538	0.650000	0.86243	GCG	HIST1H2BK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197903		0.637	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	197	0.00	0	C	NM_080593		27114334	27114334	-1	no_errors	ENST00000356950	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	T
HLTF	6596	genome.wustl.edu	37	3	148750037	148750037	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr3:148750037A>C	ENST00000310053.5	-	25	3193	c.3000T>G	c.(2998-3000)atT>atG	p.I1000M	HLTF_ENST00000465259.1_Missense_Mutation_p.I999M|HLTF_ENST00000494055.1_Missense_Mutation_p.I1000M|HLTF_ENST00000392912.2_Missense_Mutation_p.I1000M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	1000	Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I1000M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGATTTCATTAATTTTGGCTT	0.299																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	106.0	108.0					3																	148750037		2202	4296	6498	-	-	-	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.3000T>G	3.37:g.148750037A>C	ENSP00000308944:p.Ile1000Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1000M	ENST00000310053.5	37	c.3000	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714899	0.30413	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.88	-4.58	0.03410	.	.	.	.	.	T	0.52853	0.1760	N	0.26092	0.79	0.45528	D	0.998489	B;B	0.32918	0.39;0.264	B;B	0.24541	0.054;0.03	T	0.37957	-0.9683	9	0.62326	D	0.03	-24.3796	1.0192	0.01514	0.4409:0.1094:0.2373:0.2123	.	1000;1000	A8K5B6;Q14527	.;HLTF_HUMAN	M	999;1000;1000;1000	ENSP00000420745:I999M;ENSP00000308944:I1000M;ENSP00000376644:I1000M;ENSP00000420429:I1000M	ENSP00000308944:I1000M	I	-	3	3	HLTF	150232727	0.527000	0.26306	0.959000	0.39883	0.909000	0.53808	-0.324000	0.07986	-0.688000	0.05155	-0.341000	0.08007	ATT	HLTF	-	NULL	ENSG00000071794		0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	341	0.00	0	A			148750037	148750037	-1	no_errors	ENST00000310053	ensembl	human	known	69_37n	missense	260	28.57	104	SNP	0.848	C
HLTF	6596	genome.wustl.edu	37	3	148750037	148750037	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr3:148750037A>C	ENST00000310053.5	-	25	3193	c.3000T>G	c.(2998-3000)atT>atG	p.I1000M	HLTF_ENST00000465259.1_Missense_Mutation_p.I999M|HLTF_ENST00000494055.1_Missense_Mutation_p.I1000M|HLTF_ENST00000392912.2_Missense_Mutation_p.I1000M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	1000	Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I1000M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGATTTCATTAATTTTGGCTT	0.299																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	106.0	108.0					3																	148750037		2202	4296	6498	-	-	-	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.3000T>G	3.37:g.148750037A>C	ENSP00000308944:p.Ile1000Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1000M	ENST00000310053.5	37	c.3000	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714899	0.30413	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.88	-4.58	0.03410	.	.	.	.	.	T	0.52853	0.1760	N	0.26092	0.79	0.45528	D	0.998489	B;B	0.32918	0.39;0.264	B;B	0.24541	0.054;0.03	T	0.37957	-0.9683	9	0.62326	D	0.03	-24.3796	1.0192	0.01514	0.4409:0.1094:0.2373:0.2123	.	1000;1000	A8K5B6;Q14527	.;HLTF_HUMAN	M	999;1000;1000;1000	ENSP00000420745:I999M;ENSP00000308944:I1000M;ENSP00000376644:I1000M;ENSP00000420429:I1000M	ENSP00000308944:I1000M	I	-	3	3	HLTF	150232727	0.527000	0.26306	0.959000	0.39883	0.909000	0.53808	-0.324000	0.07986	-0.688000	0.05155	-0.341000	0.08007	ATT	HLTF	-	NULL	ENSG00000071794		0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	341	0.00	0	A			148750037	148750037	-1	no_errors	ENST00000310053	ensembl	human	known	69_37n	missense	317	28.28	125	SNP	0.848	C
INSIG2	51141	genome.wustl.edu	37	2	118864382	118864382	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr2:118864382A>G	ENST00000245787.4	+	4	645	c.439A>G	c.(439-441)Act>Gct	p.T147A	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	147					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.T147A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTGTGGTGGACTTTTGATAG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											263.0	243.0	250.0					2																	118864382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.439A>G	2.37:g.118864382A>G	ENSP00000245787:p.Thr147Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W8|Q8TBI8	Missense_Mutation	SNP	pfam_INSIG_fam	p.T147A	ENST00000245787.4	37	c.439	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421770	0.62622	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	5.55	0.83447	.	0.045477	0.85682	D	0.000000	T	0.69015	0.3064	L	0.45137	1.4	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.983	T	0.68191	-0.5474	9	0.42905	T	0.14	.	15.8527	0.78947	1.0:0.0:0.0:0.0	.	39;147	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	A	147	.	ENSP00000245787:T147A	T	+	1	0	INSIG2	118580852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.900000	0.75687	2.330000	0.79161	0.477000	0.44152	ACT	INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.408	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	477	0.42	2	A	NM_016133		118864382	118864382	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	missense	233	16.79	47	SNP	1.000	G
INSIG2	51141	genome.wustl.edu	37	2	118864382	118864382	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr2:118864382A>G	ENST00000245787.4	+	4	645	c.439A>G	c.(439-441)Act>Gct	p.T147A	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	147					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.T147A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTGTGGTGGACTTTTGATAG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											263.0	243.0	250.0					2																	118864382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.439A>G	2.37:g.118864382A>G	ENSP00000245787:p.Thr147Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W8|Q8TBI8	Missense_Mutation	SNP	pfam_INSIG_fam	p.T147A	ENST00000245787.4	37	c.439	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421770	0.62622	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	5.55	0.83447	.	0.045477	0.85682	D	0.000000	T	0.69015	0.3064	L	0.45137	1.4	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.983	T	0.68191	-0.5474	9	0.42905	T	0.14	.	15.8527	0.78947	1.0:0.0:0.0:0.0	.	39;147	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	A	147	.	ENSP00000245787:T147A	T	+	1	0	INSIG2	118580852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.900000	0.75687	2.330000	0.79161	0.477000	0.44152	ACT	INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.408	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	477	0.42	2	A	NM_016133		118864382	118864382	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	missense	274	16.72	55	SNP	1.000	G
MAP3K9	4293	genome.wustl.edu	37	14	71197420	71197420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr14:71197420delA	ENST00000554752.2	-	12	2991	c.2992delT	c.(2992-2994)tctfs	p.S998fs	MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.S1012fs|MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.S726fs|MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.S731fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.S975fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	998					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGGTTGGCAGAAGGACGCGGC	0.627																																					GBM(114;411 1587 13539 28235 50070)	dbGAP											0													50.0	52.0	52.0					14																	71197420		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2992delT	14.37:g.71197420delA	ENSP00000451612:p.Ser998fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.S1012fs	ENST00000554752.2	37	c.3034		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11	ENSG00000006432		0.627	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	59	0.00	0	A			71197420	71197420	-1	no_errors	ENST00000555993	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.995	-
MAP3K9	4293	genome.wustl.edu	37	14	71197420	71197420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr14:71197420delA	ENST00000554752.2	-	12	2991	c.2992delT	c.(2992-2994)tctfs	p.S998fs	MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.S1012fs|MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.S726fs|MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.S731fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.S975fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	998					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGGTTGGCAGAAGGACGCGGC	0.627																																					GBM(114;411 1587 13539 28235 50070)	dbGAP											0													50.0	52.0	52.0					14																	71197420		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2992delT	14.37:g.71197420delA	ENSP00000451612:p.Ser998fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.S1012fs	ENST00000554752.2	37	c.3034		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11	ENSG00000006432		0.627	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	59	0.00	0	A			71197420	71197420	-1	no_errors	ENST00000555993	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.995	-
NPTN	27020	genome.wustl.edu	37	15	73889543	73889544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr15:73889543_73889544insA	ENST00000345330.4	-	2	455_456	c.258_259insT	c.(256-261)cgtgtcfs	p.V87fs	NPTN_ENST00000563691.1_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000287226.8_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000545878.1_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000351217.6_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	87	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTTACGGTGACACGGCGCTTCC	0.609																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.259dupT	15.37:g.73889544_73889544dupA	ENSP00000290401:p.Val87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V86fs	ENST00000345330.4	37	c.259_258	CCDS10249.1	15																																																																																			NPTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000156642		0.609	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	103	0.00	0	-	NM_012428		73889543	73889544	-1	no_errors	ENST00000345330	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:1.000	A
NPTN	27020	genome.wustl.edu	37	15	73889543	73889544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr15:73889543_73889544insA	ENST00000345330.4	-	2	455_456	c.258_259insT	c.(256-261)cgtgtcfs	p.V87fs	NPTN_ENST00000563691.1_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000287226.8_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000545878.1_Frame_Shift_Ins_p.V87fs|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000351217.6_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	87	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTTACGGTGACACGGCGCTTCC	0.609																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.259dupT	15.37:g.73889544_73889544dupA	ENSP00000290401:p.Val87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V86fs	ENST00000345330.4	37	c.259_258	CCDS10249.1	15																																																																																			NPTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000156642		0.609	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	103	0.00	0	-	NM_012428		73889543	73889544	-1	no_errors	ENST00000345330	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	1.000:1.000	A
PRAMEF7	441871	genome.wustl.edu	37	1	12980232	12980232	+	Silent	SNP	G	G	A	rs201674075		TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	0					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGTTGAATGCCTGCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1424G>A	1.37:g.12980232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP0	Silent	SNP	NULL	p.*475	ENST00000361079.2	37	c.1424	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.532	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		124	0.00	0	G	NM_001012277		12980232	12980232	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	27	10.00	3	SNP	0.000	A
PRAMEF7	441871	genome.wustl.edu	37	1	12980232	12980232	+	Silent	SNP	G	G	A	rs201674075		TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	0					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGTTGAATGCCTGCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1424G>A	1.37:g.12980232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP0	Silent	SNP	NULL	p.*475	ENST00000361079.2	37	c.1424	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL	ENSG00000204510		0.532	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		124	0.00	0	G	NM_001012277		12980232	12980232	+1	no_errors	ENST00000330881	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	0.000	A
ROM1	6094	genome.wustl.edu	37	11	62381084	62381084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr11:62381084delG	ENST00000278833.3	+	1	872	c.331delG	c.(331-333)gggfs	p.G113fs	EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000529309.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CACGGCTGGTGGGGGGGGGCT	0.677																																						dbGAP											0													14.0	17.0	16.0					11																	62381084		2193	4287	6480	-	-	-	SO:0001589	frameshift_variant	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.331delG	11.37:g.62381084delG	ENSP00000278833:p.Gly113fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R978	Frame_Shift_Del	DEL	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L114fs	ENST00000278833.3	37	c.331	CCDS8024.1	11																																																																																			ROM1	-	pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1	ENSG00000149489		0.677	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1	42	0.00	0	G	NM_000327		62381084	62381084	+1	no_errors	ENST00000278833	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.023	-
ROM1	6094	genome.wustl.edu	37	11	62381084	62381084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr11:62381084delG	ENST00000278833.3	+	1	872	c.331delG	c.(331-333)gggfs	p.G113fs	EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000529309.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CACGGCTGGTGGGGGGGGGCT	0.677																																						dbGAP											0													14.0	17.0	16.0					11																	62381084		2193	4287	6480	-	-	-	SO:0001589	frameshift_variant	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.331delG	11.37:g.62381084delG	ENSP00000278833:p.Gly113fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R978	Frame_Shift_Del	DEL	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L114fs	ENST00000278833.3	37	c.331	CCDS8024.1	11																																																																																			ROM1	-	pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1	ENSG00000149489		0.677	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1	42	0.00	0	G	NM_000327		62381084	62381084	+1	no_errors	ENST00000278833	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.023	-
RPLP0	6175	genome.wustl.edu	37	12	120636935	120636935	+	Silent	SNP	A	A	G			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr12:120636935A>G	ENST00000551150.1	-	3	619	c.304T>C	c.(304-306)Ttg>Ctg	p.L102L	RPLP0_ENST00000228306.4_Silent_p.L102L|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Silent_p.L102L|RPLP0_ENST00000313104.5_Silent_p.L102L|RPLP0_ENST00000546989.1_Silent_p.L102L|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	102					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L102L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCCAGCAACATGTCCCTG	0.478																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											99.0	95.0	96.0					12																	120636935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.304T>C	12.37:g.120636935A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7A4|Q9BVK4	Silent	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.L102	ENST00000551150.1	37	c.304	CCDS9193.1	12																																																																																			RPLP0	-	pfam_Ribosomal_L10/acidic_P0	ENSG00000089157		0.478	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	233	0.00	0	A	NM_053275		120636935	120636935	-1	no_errors	ENST00000228306	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	1.000	G
RPLP0	6175	genome.wustl.edu	37	12	120636935	120636935	+	Silent	SNP	A	A	G			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr12:120636935A>G	ENST00000551150.1	-	3	619	c.304T>C	c.(304-306)Ttg>Ctg	p.L102L	RPLP0_ENST00000228306.4_Silent_p.L102L|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Silent_p.L102L|RPLP0_ENST00000313104.5_Silent_p.L102L|RPLP0_ENST00000546989.1_Silent_p.L102L|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	102					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L102L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCCAGCAACATGTCCCTG	0.478																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											99.0	95.0	96.0					12																	120636935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.304T>C	12.37:g.120636935A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7A4|Q9BVK4	Silent	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.L102	ENST00000551150.1	37	c.304	CCDS9193.1	12																																																																																			RPLP0	-	pfam_Ribosomal_L10/acidic_P0	ENSG00000089157		0.478	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	233	0.00	0	A	NM_053275		120636935	120636935	-1	no_errors	ENST00000228306	ensembl	human	known	69_37n	silent	95	18.10	21	SNP	1.000	G
SPTAN1	6709	genome.wustl.edu	37	9	131380311	131380311	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr9:131380311G>A	ENST00000372731.4	+	42	5619	c.5509G>A	c.(5509-5511)Ggg>Agg	p.G1837R	SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1842R|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1842R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1837					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1837R(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAACACCATCGGGAAAGAGGA	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	76.0	75.0					9																	131380311		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5509G>A	9.37:g.131380311G>A	ENSP00000361816:p.Gly1837Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.G1842R	ENST00000372731.4	37	c.5524	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980674	0.92982	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.94;0.999;0.999	T	0.70680	-0.4805	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1817;1842;1837	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	R	1842;1837;1842;1817;86	ENSP00000350882:G1842R;ENSP00000361816:G1837R;ENSP00000361824:G1842R	ENSP00000350882:G1842R	G	+	1	0	SPTAN1	130420132	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	9.374000	0.97172	2.941000	0.99782	0.655000	0.94253	GGG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	92	0.00	0	G	NM_003127		131380311	131380311	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131380311	131380311	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr9:131380311G>A	ENST00000372731.4	+	42	5619	c.5509G>A	c.(5509-5511)Ggg>Agg	p.G1837R	SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1842R|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1842R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1837					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1837R(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAACACCATCGGGAAAGAGGA	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	76.0	75.0					9																	131380311		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5509G>A	9.37:g.131380311G>A	ENSP00000361816:p.Gly1837Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.G1842R	ENST00000372731.4	37	c.5524	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980674	0.92982	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.94;0.999;0.999	T	0.70680	-0.4805	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1817;1842;1837	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	R	1842;1837;1842;1817;86	ENSP00000350882:G1842R;ENSP00000361816:G1837R;ENSP00000361824:G1842R	ENSP00000350882:G1842R	G	+	1	0	SPTAN1	130420132	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	9.374000	0.97172	2.941000	0.99782	0.655000	0.94253	GGG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	92	0.00	0	G	NM_003127		131380311	131380311	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
SPTB	6710	genome.wustl.edu	37	14	65264479	65264479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr14:65264479delG	ENST00000389721.5	-	9	1182	c.1150delC	c.(1150-1152)cacfs	p.H384fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.H384fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.H384fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.H384fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.H384fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	384					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCCCATCGTGGGGTGTGTAC	0.438																																						dbGAP											0													224.0	199.0	208.0					14																	65264479		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1150delC	14.37:g.65264479delG	ENSP00000374371:p.His384fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H384fs	ENST00000389721.5	37	c.1150	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.438	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	206	0.00	0	G			65264479	65264479	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	frame_shift_del	108	19.85	27	DEL	0.047	-
SPTB	6710	genome.wustl.edu	37	14	65264479	65264479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr14:65264479delG	ENST00000389721.5	-	9	1182	c.1150delC	c.(1150-1152)cacfs	p.H384fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.H384fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.H384fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.H384fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.H384fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	384					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCCCATCGTGGGGTGTGTAC	0.438																																						dbGAP											0													224.0	199.0	208.0					14																	65264479		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1150delC	14.37:g.65264479delG	ENSP00000374371:p.His384fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H384fs	ENST00000389721.5	37	c.1150	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.438	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	206	0.00	0	G			65264479	65264479	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	frame_shift_del	90	18.18	20	DEL	0.047	-
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	146	0.00	0	G	NM_000546		7577121	7577121	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.830	A
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	146	0.00	0	G	NM_000546		7577121	7577121	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.830	A
ZNF142	7701	genome.wustl.edu	37	2	219509721	219509721	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr2:219509721C>T	ENST00000449707.1	-	8	1939	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	ZNF142_ENST00000411696.2_Silent_p.R506R	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R343R(1)|p.R506R(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCCCTGATGCCGCAGCTTGT	0.582																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											2	Substitution - coding silent(2)	breast(2)											57.0	63.0	61.0					2																	219509721		2159	4271	6430	-	-	-	SO:0001819	synonymous_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1518G>A	2.37:g.219509721C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92510	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R506	ENST00000449707.1	37	c.1518	CCDS42817.1	2																																																																																			ZNF142	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000115568		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	73	0.00	0	C	NM_005081		219509721	219509721	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.884	T
ZNF142	7701	genome.wustl.edu	37	2	219509721	219509721	+	Silent	SNP	C	C	T			TCGA-A2-A0T1-01A-21D-A099-09	TCGA-A2-A0T1-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9515373a-d982-45fa-b8f9-363f9ba8649f	878b308b-e9d9-48ed-8654-86971ef43f22	g.chr2:219509721C>T	ENST00000449707.1	-	8	1939	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	ZNF142_ENST00000411696.2_Silent_p.R506R	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R343R(1)|p.R506R(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCCCTGATGCCGCAGCTTGT	0.582																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											2	Substitution - coding silent(2)	breast(2)											57.0	63.0	61.0					2																	219509721		2159	4271	6430	-	-	-	SO:0001819	synonymous_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1518G>A	2.37:g.219509721C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92510	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R506	ENST00000449707.1	37	c.1518	CCDS42817.1	2																																																																																			ZNF142	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000115568		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	73	0.00	0	C	NM_005081		219509721	219509721	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.884	T
