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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
TP53	7157	broad.mit.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs	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	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTAC	0.577000		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)						SO:0001589	frameshift_variant	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;	ENST00000269305.4	0	1	hg19	CCDS11118.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	30	294	0	54	0	8.549890e-01	0	36	0	54	2	1	1	56	603	0	620	2	1	0.957408	32	287	1	53	19								-3.142702	1	1	0	0		1	0	1	1	1.766681	1	0.260000	1.920000	0.149425	0.610000	0.420000	0.830000	0.610000	0.624867	0.610000	0	5.100000e-01	7.300000e-01
CPXM2	119587	broad.mit.edu	37	10	125539748	125539748	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125539748G>A	ENST00000241305.3	-	7	1067	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CPXM2_ENST00000368854.3_5'UTR|RP11-391M7.3_ENST00000446888.1_RNA	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2			47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)			ATCTCGTTCCGGCGGTGATAA	0.448000																								0							SO:0001583	missense			ENST00000241305.3	1	1	hg19	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555273	0.45487	0.0	1.16E-4	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96459	-4.02	4.62	2.6	0.31112	.	0.059335	0.64402	D	0.000003	D	0.95996	0.8696	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.94907	0.8061	10	0.87932	D	0	-16.204	7.5893	0.28012	0.0955:0.0:0.684:0.2205	.	305	Q8N436	CPXM2_HUMAN	W	305;138;305	ENSP00000241305:R305W	ENSP00000241305:R305W	R	-	1	2	CPXM2	125529738	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	2.618000	0.46393	1.169000	0.42739	-0.136000	0.14681	CGG		TCGA-FB-AAPY-01A-11D-A40W-08	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	1	0	0	59	547	0	115	0	3.714629e-01	0	13	0	115	2		0	0	0	0	0	2	1	1.000000	59	545	0	112	2								-3.221883	1	1	121412	6	41	1	1	2	3	2.059041	0	0.260000	1.920000	0.268558	0.760000	0.580000	1.000000	0.750000	0.781340	0.760000	0	6.700000e-01	8.900000e-01
PARD3	56288	broad.mit.edu	37	10	34663823	34663823	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:34663823G>A	ENST00000374789.3	-	11	1972	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000340077.5_Silent_p.D549D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator			63		Breast(68;0.0707)			GGTGGAAGGCGTCTTCCTGGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000374789.3	1	1	hg19	CCDS7178.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	0	0	1	138	788	1	158	1	9.421334e-01	8	21	1	158	2		0	0	0	0	0	2	1	1.000000	136	784	1	156	20								-20.000000	1	1	121410	1	39	1	1	2	3	2.039750	0	0.260000	1.920000	0.264779	0.990000	0.980000	1.000000	1.000000	0.998779	0.990000	1	9.900000e-01	1
OR4D5	219875	broad.mit.edu	37	11	123810641	123810641	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:123810641C>A	ENST00000307033.2	+	1	392	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5			41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TCTTCCACTTCATTGGAGGCA	0.498000																								0							SO:0001583	missense			ENST00000307033.2	1	1	hg19	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580034	0.46006	.	.	ENSG00000171014	ENST00000307033	T	0.00408	7.54	5.5	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.132917	0.34386	N	0.004004	T	0.00178	0.0005	N	0.04063	-0.285	0.32942	D	0.518614	B	0.17038	0.02	B	0.18871	0.023	T	0.33111	-0.9881	10	0.13470	T	0.59	-18.5794	8.7808	0.34789	0.0:0.8248:0.0:0.1752	.	106	Q8NGN0	OR4D5_HUMAN	L	106	ENSP00000305970:F106L	ENSP00000305970:F106L	F	+	3	2	OR4D5	123315851	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.448000	0.21726	2.575000	0.86900	0.655000	0.94253	TTC		TCGA-FB-AAPY-01A-11D-A40W-08	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	1	0	1	57	320	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	56	315	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.039641	0	0.260000	1.920000	0.264779	0.990000	0.900000	1.000000	1.000000	0.994015	0.990000	1	9.900000e-01	1
OR8B12	219858	broad.mit.edu	37	11	124412927	124412927	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:124412927C>A	ENST00000306842.2	-	1	648	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12			31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			TGACAATGGGCATTCCAACGT	0.453000																								0							SO:0001583	missense			ENST00000306842.2	1	1	hg19	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	0.960	-0.703660	0.03255	.	.	ENSG00000170953	ENST00000306842	T	0.30981	1.51	3.89	-0.137	0.13469	GPCR, rhodopsin-like superfamily (1);	1.388370	0.04278	N	0.343265	T	0.09247	0.0228	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	.	4.7775	0.13187	0.0:0.4882:0.1521:0.3598	.	208	Q8NGG6	OR8BC_HUMAN	I	208	ENSP00000307159:M208I	ENSP00000307159:M208I	M	-	3	0	OR8B12	123918137	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-2.035000	0.01423	-0.013000	0.14199	-0.145000	0.13849	ATG		TCGA-FB-AAPY-01A-11D-A40W-08	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1	1	0	1	24	147	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	24	147	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.039641	0	0.260000	1.920000	0.264779	0.990000	0.730000	1.000000	1.000000	0.963158	0.990000	1	8.900000e-01	1
NTM	50863	broad.mit.edu	37	11	132177680	132177680	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:132177680C>T	ENST00000374786.1	+	4	1103	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.A208A|NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000427481.2_Silent_p.A199A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					ATGACGTGGCCGCGCCCGTGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000374786.1	1	1	hg19	CCDS8491.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	1	0	1	26	154	0	41	0	9.744702e-01	0	38	0	41	2		0	0	0	0	0	2	1	1.000000	26	151	0	40	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.039641	0	0.260000	1.920000	0.264779	0.990000	0.760000	1.000000	1.000000	0.972472	0.990000	1	9.300000e-01	1
C11orf40	143501	broad.mit.edu	37	11	4594586	4594586	+	Missense_Mutation	SNP	A	A	T	rs143067877		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:4594586A>T	ENST00000307616.1	-	2	257	c.258T>A	c.(256-258)gaT>gaA	p.D86E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40			7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			TGTGGCCGTTATCACCCATCA	0.473000																								0							SO:0001583	missense			ENST00000307616.1	1	1	hg19	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	A	8.861	0.946988	0.18356	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	1.45	-1.1	0.09872	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16808	-1.0390	9	0.87932	D	0	.	2.2405	0.04018	0.4644:0.3189:0.2167:0.0	.	86	Q8WZ69	CK040_HUMAN	E	86	ENSP00000302918:D86E	ENSP00000302918:D86E	D	-	3	2	C11orf40	4551162	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.039000	0.03550	-0.336000	0.08438	0.338000	0.21704	GAT		TCGA-FB-AAPY-01A-11D-A40W-08	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	1	0	0	26	383	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	26	378	0	79	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.049718	0	0.260000	1.920000	0.266673	0.500000	0.330000	1.000000	0.500000	0.534024	0.500000	0	4.100000e-01	6.200000e-01
AGBL2	79841	broad.mit.edu	37	11	47681762	47681762	+	Missense_Mutation	SNP	G	G	A	rs138759912	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:47681762G>A	ENST00000525123.1	-	19	2957	c.2672C>T	c.(2671-2673)gCg>gTg	p.A891V	AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2			34					TGGGTATGCCGCCATGGCAGC	0.507000																								0							SO:0001583	missense			ENST00000525123.1	1	1	hg19	CCDS7944.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	3.229	-0.157929	0.06544	0.002045	0.0	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.09538	2.97;2.97;2.97	4.79	0.562	0.17290	.	0.950318	0.08662	N	0.912279	T	0.03915	0.0110	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46555	-0.9183	10	0.13108	T	0.6	2.8316	6.4798	0.22057	0.4834:0.0:0.5166:0.0	.	891	Q5U5Z8	CBPC2_HUMAN	V	274;891;893;891	ENSP00000435582:A891V;ENSP00000350228:A893V;ENSP00000298861:A891V	ENSP00000298861:A891V	A	-	2	0	AGBL2	47638338	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.127000	0.10547	0.017000	0.15025	-0.384000	0.06662	GCG		TCGA-FB-AAPY-01A-11D-A40W-08	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1	44	335	0	69	0	7.202794e-02	1	3	0	69	2		0	0	0	0	0	2	1	1.000000	42	334	0	68	2								-2.966615	1	1	121412	25	48	1	1	2	3	2.049718	0	0.260000	1.920000	0.266673	0.900000	0.670000	1.000000	1.000000	0.897157	0.900000	1	7.800000e-01	1
NRXN2	9379	broad.mit.edu	37	11	64375284	64375284	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64375284G>A	ENST00000377551.1	-	22	4734	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M	NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1508M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M			Q9P2S2	NRX2A_HUMAN	neurexin 2			71					CTCGTCGTCCGTGGGGGGGAG	0.687000																								0							SO:0001583	missense			ENST00000377551.1	0	1	hg19	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350585	0.61183	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.65549	0.35;-0.15;-0.16;-0.15;-0.04	3.9	3.9	0.45041	.	.	.	.	.	T	0.66790	0.2825	N	0.24115	0.695	0.50313	D	0.99986	D;D;D;D	0.89917	0.999;0.979;0.989;1.0	P;P;P;D	0.87578	0.83;0.582;0.63;0.998	T	0.71500	-0.4574	9	0.72032	D	0.01	.	13.7387	0.62833	0.0:0.0:1.0:0.0	.	1438;1508;1254;462	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	M	462;1508;1438;1508;1438;1501	ENSP00000301894:T462M;ENSP00000366774:T1508M;ENSP00000366782:T1438M;ENSP00000265459:T1508M;ENSP00000386416:T1501M	ENSP00000265459:T1508M	T	-	2	0	NRXN2	64131860	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.307000	0.65762	1.899000	0.54978	0.313000	0.20887	ACG		TCGA-FB-AAPY-01A-11D-A40W-08	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	0	0	6	48	0	12	0	6.872679e-01	0	20	0	12	2		0	0	0	0	0	2	1	0.963891	6	46	0	12	2								-11.896020	1	1	0	0		1	1	2	3	2.039641	0	0.260000	1.920000	0.264779	0.890000	0.380000	1.000000	1.000000	0.832069	0.890000	1	6.000000e-01	1
MAP4K2	5871	broad.mit.edu	37	11	64566932	64566932	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64566932G>A	ENST00000294066.2	-	14	1105	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_Silent_p.G338G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2			8					TGCGTGGGGCGCCAAATTTCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000294066.2	0	1	hg19	CCDS8082.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	0	0	0	7	394	0	64	0	6.266901e-02	0	20	0	64	2		0	0	0	0	0	2	1	0.979934	6	390	0	62	2								-2.129064	0	1	0	0		1	1	2	3	2.039641	0	0.260000	1.920000	0.264779	0.140000	0.060000	1.000000	0.140000	0.184809	0.140000	0	9.000000e-02	2.100000e-01
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19			55	Medulloblastoma(191;0.163)|all_neural(191;0.178)				GAAGGCCTTGCGGGCCTCCAG	0.622000																								0							SO:0001583	missense			ENST00000545145.2	0	1	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	0	6	354	0	54	0	3.624288e-02	0	15	0	54	2		0	0	0	0	0	2	1	0.963120	6	347	0	54	2								-1.927406	0	1	0	0		1	0	1	1	1.816916	1	0.260000	1.920000	0.151960	0.110000	0.040000	0.230000	0.110000	0.127789	0.110000	0	7.000000e-02	1.700000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	0	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-FB-AAPY-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	22	190	1	61	0	2.110806e-01	1	6	1	61	2	1	1	29	255	0	273	2	1	0.958067	22	188	1	58	13								-10.133150	1	1	121404	2	44	1	1	2	3	2.104873	0	0.260000	1.920000	0.276920	0.850000	0.540000	1.000000	1.000000	0.844974	0.850000	1	6.800000e-01	1
LRP1	4035	broad.mit.edu	37	12	57578958	57578958	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57578958A>G	ENST00000243077.3	+	40	6899	c.6433A>G	c.(6433-6435)Atc>Gtc	p.I2145V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTAAAGACATCAAAGTCTT	0.627000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002798	0.35320	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	N	0.14661	0.345	0.80722	D	1	P	0.48640	0.913	P	0.61592	0.891	D	0.85470	0.1172	10	0.12103	T	0.63	.	14.2419	0.65963	1.0:0.0:0.0:0.0	.	2145	Q07954	LRP1_HUMAN	V	2145	ENSP00000243077:I2145V	ENSP00000243077:I2145V	I	+	1	0	LRP1	55865225	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.392000	0.66272	2.014000	0.59158	0.402000	0.26972	ATC		TCGA-FB-AAPY-01A-11D-A40W-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	0	38	422	0	88	0	5.594590e-01	0	22	0	88	2		0	0	0	0	0	2	1	1.000000	37	411	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.104873	0	0.260000	1.920000	0.276920	0.670000	0.470000	1.000000	0.650000	0.707914	0.670000	0	5.600000e-01	8.700000e-01
MDM1	56890	broad.mit.edu	37	12	68720759	68720759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:68720759G>A	ENST00000303145.7	-	3	262	c.176C>T	c.(175-177)cCt>cTt	p.P59L	MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)			33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)		GTCATGGTAAGGGACTCTTCT	0.413000																								0							SO:0001583	missense			ENST00000303145.7	1	1	hg19	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110659	0.77210	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686;ENST00000430606	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.1	5.1	0.69264	.	0.115685	0.56097	D	0.000021	T	0.52141	0.1716	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51395	-0.8711	9	.	.	.	-18.3387	17.0854	0.86610	0.0:0.0:1.0:0.0	.	59;59;59	E7EPQ3;Q8TC05-2;Q8TC05	.;.;MDM1_HUMAN	L	59;59;54;59	ENSP00000302537:P59L;ENSP00000391006:P59L;ENSP00000446000:P54L;ENSP00000408694:P59L	.	P	-	2	0	MDM1	67007026	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.242000	0.72376	2.532000	0.85374	0.561000	0.74099	CCT		TCGA-FB-AAPY-01A-11D-A40W-08	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	1	0	1	44	297	0	78	0	3.344040e-01	1	8	0	78	2		0	0	0	0	0	2	1	1.000000	44	293	0	77	2								-2.807064	1	1	121410	1	34	1	0	1	1	1.819842	1	0.260000	1.920000	0.150694	0.830000	0.630000	1.000000	0.850000	0.837529	0.830000	0	7.300000e-01	9.400000e-01
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Silent_p.R141R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	p.R141R(1)		34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GGATGACATGCCGACAATCAG	0.383000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000398576.2	0	1	hg19	CCDS9403.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	0	0	0	6	709	0	103	0	1.346060e-01	0	63	0	103	2		0	0	0	0	0	2	1	0.963989	8	700	0	103	2								-1.751656	0	1	0	0		1	1	2	3	2.050384	0	0.260000	1.920000	0.266673	0.060000	0.020000	1.000000	0.060000	0.127049	0.060000	0	4.000000e-02	1.100000e-01
ESR2	2100	broad.mit.edu	37	14	64735549	64735549	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:64735549G>T	ENST00000341099.4	-	4	1033	c.616C>A	c.(616-618)Ctt>Att	p.L206I	ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000557772.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)			23				Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACTTCCGAAGTCGGCAGGCC	0.478000																								0							SO:0001583	missense			ENST00000341099.4	1	1	hg19	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413647	0.96072	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.059913	0.64402	D	0.000002	D	0.98820	0.9602	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.997;0.996	D	0.99758	1.1020	10	0.87932	D	0	.	19.7793	0.96412	0.0:0.0:1.0:0.0	.	206;206;206;206;206	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	I	206	ENSP00000452485:L206I;ENSP00000441792:L206I;ENSP00000450699:L206I;ENSP00000335551:L206I;ENSP00000351412:L206I;ENSP00000450488:L206I;ENSP00000452426:L206I;ENSP00000350427:L206I;ENSP00000451582:L206I;ENSP00000343925:L206I;ENSP00000267525:L206I	ENSP00000267525:L206I	L	-	1	0	ESR2	63805302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.756000	0.98918	2.678000	0.91216	0.555000	0.69702	CTT		TCGA-FB-AAPY-01A-11D-A40W-08	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1	1	0	0	87	487	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1.000000	85	478	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.030151	0	0.260000	1.920000	0.263828	0.990000	0.950000	1.000000	1.000000	0.997447	0.990000	1	9.900000e-01	1
ATP10A	57194	broad.mit.edu	37	15	25953443	25953443	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:25953443G>A	ENST00000356865.6	-	11	2460	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			TCCCTCTGGCGTCAACTAGGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000356865.6	1	1	hg19	CCDS32178.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	0	44	320	0	55	0	5.618492e-01	0	15	0	55	2		0	0	0	0	0	2	1	1.000000	44	318	0	51	2								-17.880320	1	1	121412	2	36	1	1	2	3	2.036004	0	0.260000	1.920000	0.264779	0.940000	0.690000	1.000000	1.000000	0.917706	0.940000	1	8.100000e-01	1
ATP10A	57194	broad.mit.edu	37	15	26026228	26026228	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:26026228C>T	ENST00000356865.6	-	2	703	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			TCCAGGTTGGCGGTCTCGATG	0.602000																								0							SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527017	0.96431	.	.	ENSG00000206190	ENST00000356865	D	0.91996	-2.95	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.88775	2.98	0.58432	D	0.999998	D	0.60160	0.987	P	0.62491	0.903	D	0.96807	0.9594	10	0.66056	D	0.02	-27.9289	16.7413	0.85460	0.0:1.0:0.0:0.0	.	198	O60312	AT10A_HUMAN	T	198	ENSP00000349325:A198T	ENSP00000349325:A198T	A	-	1	0	ATP10A	23577321	1.000000	0.71417	0.948000	0.38648	0.963000	0.63663	5.657000	0.67996	2.428000	0.82296	0.561000	0.74099	GCC		TCGA-FB-AAPY-01A-11D-A40W-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1	45	351	0	88	0	4.102712e-01	0	12	0	88	2		0	0	0	0	0	2	1	1.000000	41	338	0	85	2								-3.075757	1	1	121412	1	31	1	1	2	3	2.036004	0	0.260000	1.920000	0.264779	0.880000	0.650000	1.000000	1.000000	0.879937	0.880000	1	7.600000e-01	1
CCDC102A	92922	broad.mit.edu	37	16	57559977	57559977	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57559977C>T	ENST00000258214.2	-	3	894	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A			8					GGCTGCGCGCCTCCCAGCAGT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000258214.2	0	1	hg19	CCDS10784.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	1	0	1	7	42	0	10	0	1.837844e-01	0	5	0	10	2		0	0	0	0	0	2	1	0.983355	7	42	0	10	2								-14.577000	1	1	0	0		1	1	2	3	2.042215	0	0.260000	1.920000	0.265727	0.990000	0.520000	1.000000	1.000000	0.924819	0.990000	1	7.800000e-01	1
MAP2K4	6416	broad.mit.edu	37	17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:11998898C>T	ENST00000353533.5	+	4	463	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145W	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	p.0?(10)|p.R134W(2)|p.?(1)		100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)			CCAGAGAATTCGGTCAACAGT	0.338000			D, Mis, N		pancreatic, breast, colorectal										Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Substitution - Missense(2)|Unknown(1)						SO:0001583	missense			ENST00000353533.5	1	1	hg19	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600257	0.46423	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.66815	-0.23;-0.23	5.97	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.85848	0.1402	10	0.87932	D	0	.	14.9277	0.70893	0.1438:0.8562:0.0:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	W	134;145;111;6	ENSP00000262445:R134W;ENSP00000410402:R145W	ENSP00000262445:R134W	R	+	1	2	MAP2K4	11939623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.735000	0.62051	2.835000	0.97688	0.591000	0.81541	CGG		TCGA-FB-AAPY-01A-11D-A40W-08	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	1	34	231	0	58	0	2.818035e-01	1	7	0	58	2	1	9.999999e-01	33	151	0	211	2	1	1.000000	34	229	0	57	2								-2.967195	1	1	0	0		1	0	1	1	1.766681	1	0.260000	1.920000	0.149425	0.820000	0.600000	0.990000	0.840000	0.821104	0.820000	0	7.000000e-01	9.300000e-01
KRTAP4-2	85291	broad.mit.edu	37	17	39334112	39334112	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39334112C>T	ENST00000377726.2	-	1	348	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	p.R102H(1)		7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)		ACAGCTGGGGCGGCAGCAGGT	0.657000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377726.2	1	1	hg19	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.886123	0.51908	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01505	4.82	4.21	0.00697	0.14069	.	5.476650	0.00783	U	0.001287	T	0.04634	0.0126	M	0.74467	2.265	0.09310	N	1	D	0.53885	0.963	P	0.46389	0.515	T	0.42999	-0.9418	10	0.33141	T	0.24	.	6.1825	0.20480	0.5372:0.303:0.1599:0.0	.	102	Q9BYR5	KRA42_HUMAN	H	102;219	ENSP00000366955:R102H	ENSP00000366955:R102H	R	-	2	0	KRTAP4-2	36587638	0.000000	0.05858	0.005000	0.12908	0.538000	0.34931	-2.424000	0.01029	0.251000	0.21505	0.609000	0.83330	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1	1	0	1	78	434	1	84		0	0	0	1	84	2		0	0	0	0	0	2	1	1.000000	75	428	0	83	2								-20.000000	1	1	121392	5	40	1	1	2	3	2.030134	0	0.260000	1.920000	0.263828	0.990000	0.940000	1.000000	1.000000	0.997079	0.990000	1	9.900000e-01	1
GJC1	10052	broad.mit.edu	37	17	42882797	42882797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:42882797G>A	ENST00000426548.1	-	3	658	c.389C>T	c.(388-390)aCg>aTg	p.T130M	GJC1_ENST00000592524.1_Missense_Mutation_p.T130M|GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa			19		Prostate(33;0.0959)			GTCCTCCTCCGTTTCTTCCAG	0.483000																								0							SO:0001583	missense			ENST00000426548.1	1	1	hg19	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.883056	0.33255	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97976	-4.64;-4.64	5.27	5.27	0.74061	.	0.449024	0.23777	N	0.044678	D	0.96160	0.8748	L	0.29908	0.895	0.40774	D	0.983116	P	0.47484	0.896	P	0.47044	0.535	D	0.96891	0.9653	10	0.54805	T	0.06	.	17.8983	0.88896	0.0:0.0:1.0:0.0	.	130	P36383	CXG1_HUMAN	M	130	ENSP00000411528:T130M;ENSP00000333193:T130M	ENSP00000333193:T130M	T	-	2	0	GJC1	40238323	1.000000	0.71417	0.995000	0.50966	0.210000	0.24377	7.686000	0.84128	2.462000	0.83206	0.462000	0.41574	ACG		TCGA-FB-AAPY-01A-11D-A40W-08	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	1	0	1	78	516	0	93	0	2.349599e-01	0	7	0	93	2		0	0	0	0	0	2	1	1.000000	79	508	0	90	2								-2.690408	1	1	121412	6	40	1	1	2	3	2.030134	0	0.260000	1.920000	0.263828	0.990000	0.810000	1.000000	1.000000	0.967820	0.990000	1	9.100000e-01	1
KCNH6	81033	broad.mit.edu	37	17	61611293	61611293	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:61611293C>T	ENST00000583023.1	+	5	733	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	p.A241V(1)		54				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGCTGCAGGCGCCGCGCATC	0.672000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000583023.1	1	1	hg19	CCDS11638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.97	1.501304	0.26861	2.27E-4	0.0	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94650	-3.48;-3.48	3.9	2.93	0.34026	.	0.064020	0.64402	D	0.000008	D	0.92645	0.7663	M	0.68952	2.095	0.50039	D	0.999849	B;B;P;B;B	0.47841	0.004;0.001;0.901;0.003;0.006	B;B;B;B;B	0.42319	0.007;0.004;0.383;0.002;0.005	D	0.91303	0.5068	10	0.49607	T	0.09	.	11.9936	0.53189	0.0:0.9134:0.0:0.0866	.	118;241;241;241;241	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	241	ENSP00000318212:A241V;ENSP00000396900:A241V	ENSP00000318212:A241V	A	+	2	0	KCNH6	58965025	1.000000	0.71417	0.842000	0.33263	0.406000	0.30931	5.929000	0.70096	0.969000	0.38237	-0.657000	0.03884	GCG		TCGA-FB-AAPY-01A-11D-A40W-08	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	1	79	385	0	73	0	7.857973e-02	0	3	0	73	2		0	0	0	0	0	2	1	1.000000	78	380	0	68	2								-4.565590	1	1	121410	16	43	1	1	2	3	2.030134	0	0.260000	1.920000	0.263828	0.990000	0.990000	1.000000	1.000000	0.999799	0.990000	1	9.900000e-01	1
LRRC37A3	374819	broad.mit.edu	37	17	62893346	62893346	+	Silent	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:62893346C>A	ENST00000584306.1	-	3	560	c.30G>T	c.(28-30)gcG>gcT	p.A10A	RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.A10A|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3			40					ACATGACACACGCTAGTGCCG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000584306.1	0	1	hg19	CCDS32708.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	0	0	0	10	926	1	241	0	2.157438e-03	0	6	1	241	2		0	0	0	0	0	2	0	0.241578	9	896	1	240	14								-2.841452	1	1	0	0		1	1	2	3	2.030134	0	0.260000	1.920000	0.263828	0.080000	0.030000	1.000000	0.080000	0.116584	0.080000	0	5.000000e-02	1.200000e-01
APCDD1	147495	broad.mit.edu	37	18	10471951	10471951	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:10471951C>T	ENST00000355285.5	+	3	1021	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1			22					TCACCACAACCTCGACCACCT	0.572000																								0							SO:0001583	missense			ENST00000355285.5	1	1	hg19	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	5.558	0.287867	0.10513	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18174	2.23	5.3	1.14	0.20703	.	0.067248	0.64402	D	0.000011	T	0.15825	0.0381	M	0.69823	2.125	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.08743	-1.0707	10	0.14656	T	0.56	-22.2921	7.5727	0.27918	0.0:0.4399:0.0:0.5601	.	223	Q8J025	APCD1_HUMAN	F	223;274	ENSP00000347433:L223F	ENSP00000347433:L223F	L	+	1	0	APCDD1	10461951	1.000000	0.71417	0.931000	0.37212	0.062000	0.15995	1.147000	0.31602	0.329000	0.23460	0.655000	0.94253	CTC		TCGA-FB-AAPY-01A-11D-A40W-08	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	1	0	1	123	578	0	114	0	9.995072e-01	0	54	0	114	2		0	0	0	0	0	2	1	1.000000	123	568	1	111	20								-3.342749	1	1	0	0		1	1	2	3	2.111398	0	0.260000	1.920000	0.277837	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ROCK1	6093	broad.mit.edu	37	18	18562785	18562785	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:18562785C>T	ENST00000399799.2	-	21	3438	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1			16	Melanoma(1;0.165)				TTCATTTCCTCTATACTGTCT	0.333000																								0							SO:0001583	missense			ENST00000399799.2	1	1	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130305	0.56721	.	.	ENSG00000067900	ENST00000399799	T	0.12879	2.64	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.47716	1.5	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.09707	-1.0662	10	0.14252	T	0.57	.	18.8588	0.92264	0.0:1.0:0.0:0.0	.	833	Q13464	ROCK1_HUMAN	K	833	ENSP00000382697:R833K	ENSP00000382697:R833K	R	-	2	0	ROCK1	16816783	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.210000	0.65214	2.699000	0.92147	0.591000	0.81541	AGA		TCGA-FB-AAPY-01A-11D-A40W-08	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	0	52	351	0	55	0	9.939542e-01	1	54	0	55	2		0	0	0	0	0	2	1	1.000000	52	347	0	55	2								-2.744810	1	1	0	0		1						0.260000	1.920000									0	0
SMAD4	4089	broad.mit.edu	37	18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:48581229C>A	ENST00000342988.3	+	5	1071	c.533C>A	c.(532-534)tCa>tAa	p.S178*	SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(3)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GAAGGACATTCAATTCAAACC	0.438000																								39	Whole gene deletion(36)|Unknown(3)	GRCh37	CM994756	SMAD4	M		SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.219139	0.99105	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.282373	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000341551:S178X	S	+	2	0	SMAD4	46835227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.952000	0.56691	2.937000	0.99478	0.650000	0.86243	TCA		TCGA-FB-AAPY-01A-11D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	68	332	0	79	1	9.472578e-01	3	23	0	79	2	1	1	83	516	0	580	2	1	1.000000	67	328	0	77	2								-3.253371	1	1	0	0		1	0	1	1	1.766790	1	0.260000	1.920000	0.149425	0.950000	0.810000	1.000000	0.990000	0.946001	0.950000	1	8.900000e-01	9.900000e-01
AKT2	208	broad.mit.edu	37	19	40762881	40762881	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:40762881C>T	ENST00000392038.2	-	3	425	c.127G>A	c.(127-129)Gag>Aag	p.E43K	AKT2_ENST00000311278.6_Missense_Mutation_p.E43K|AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2			27			Lung(22;0.000499)		TCAGGGGCCTCGGGCCTCTCC	0.562000			A		ovarian, pancreatic 										Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0							SO:0001583	missense			ENST00000392038.2	0	1	hg19	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868462	0.51588	.	.	ENSG00000105221	ENST00000392038;ENST00000358335;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994;ENST00000427375;ENST00000441941	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.27	5.27	0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.093111	0.64402	D	0.000001	T	0.23688	0.0573	N	0.10733	0.035	0.49798	D	0.999823	B;B;B	0.22480	0.07;0.027;0.008	B;B;B	0.19666	0.026;0.015;0.004	T	0.09596	-1.0667	10	0.07482	T	0.82	.	17.8288	0.88674	0.0:1.0:0.0:0.0	.	43;43;43	B7Z8Z9;Q0VAN0;P31751	.;.;AKT2_HUMAN	K	43;42;43;43;43;43;43;43;43;43;43;43;43	ENSP00000375892:E43K;ENSP00000399532:E43K;ENSP00000309428:E43K;ENSP00000404083:E43K;ENSP00000375891:E43K;ENSP00000407999:E43K;ENSP00000403842:E43K;ENSP00000396532:E43K;ENSP00000392458:E43K;ENSP00000403890:E43K;ENSP00000396968:E43K	ENSP00000309428:E43K	E	-	1	0	AKT2	45454721	0.888000	0.30383	0.953000	0.39169	0.965000	0.64279	1.770000	0.38532	2.758000	0.94735	0.561000	0.74099	GAG		TCGA-FB-AAPY-01A-11D-A40W-08	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	0	0	0	6	337	0	60	0	5.061951e-01	1	87	0	60	2		0	0	0	0	0	2	1	0.963042	6	330	0	58	2								-2.312410	0	1	0	0		1	1	2	3	2.291445	1	0.260000	1.920000	0.345133	0.160000	0.060000	0.310000	0.150000	0.175389	0.160000	0	1.000000e-01	2.400000e-01
ZNF114	163071	broad.mit.edu	37	19	48789965	48789965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:48789965G>A	ENST00000595607.1	+	6	1578	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K			Q8NC26	ZN114_HUMAN	zinc finger protein 114			18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			GAAGCCCTACGAATGTGAAGA	0.388000																								0							SO:0001583	missense			ENST00000595607.1	1	1	hg19	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332407	0.10956	.	.	ENSG00000178150	ENST00000315849	T	0.19250	2.16	2.35	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.01576	-0.805	0.09310	N	1	B	0.24882	0.113	B	0.16289	0.015	T	0.41627	-0.9498	9	0.16420	T	0.52	.	6.9118	0.24338	0.6724:0.0:0.3276:0.0	.	362	Q8NC26	ZN114_HUMAN	K	362	ENSP00000318898:E362K	ENSP00000318898:E362K	E	+	1	0	ZNF114	53481777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.780000	0.01775	-0.303000	0.08856	0.205000	0.17691	GAA		TCGA-FB-AAPY-01A-11D-A40W-08	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	0	0	1	229	662	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	1.000000	224	649	0	129	2								-8.001620	1	1	0	0		1	1	2	3	2.291445	1	0.260000	1.920000	0.345133	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54649652	54649652	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:54649652C>T	ENST00000406403.1	+	8	2313	c.710C>T	c.(709-711)gCg>gTg	p.A237V	CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V|CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				ACAGCACAGGCGCTGGTCGCC	0.632000																								0							SO:0001583	missense			ENST00000406403.1	1	1	hg19	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.172407|5.172407	0.94807|0.94807	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.61510|.	0.89;0.1;0.89|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.179711|.	0.48767|.	D|.	0.000163|.	T|T	0.58047|0.58047	0.2095|0.2095	L|L	0.34521|0.34521	1.04|1.04	0.52099|0.52099	D|D	0.999947|0.999947	D;P;D|.	0.67145|.	0.978;0.886;0.996|.	B;B;P|.	0.47786|.	0.313;0.206;0.557|.	T|T	0.52968|0.52968	-0.8504|-0.8504	10|5	0.41790|.	T|.	0.15|.	-26.6693|-26.6693	17.1265|17.1265	0.86715|0.86715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	237;237;161|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	V|C	237;56;237|159	ENSP00000221232:A237V;ENSP00000351159:A56V;ENSP00000383954:A237V|.	ENSP00000221232:A237V|.	A|R	+|+	2|1	0|0	CNOT3|CNOT3	59341464|59341464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.923000|6.923000	0.75817|0.75817	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GCG|CGC		TCGA-FB-AAPY-01A-11D-A40W-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	0	20	361	0	48	1	7.085765e-01	5	41	0	48	2		0	0	0	0	0	2	1	0.999993	18	346	0	45	2								-19.984690	1	1	121412	2	34	1	1	2	3	2.303890	1	0.260000	1.920000	0.345133	0.460000	0.280000	0.670000	0.450000	0.474233	0.460000	0	3.600000e-01	5.700000e-01
C1orf127	148345	broad.mit.edu	37	1	11007918	11007918	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:11007918C>T	ENST00000377008.4	-	11	2219	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	C1orf127_ENST00000377004.4_Silent_p.T758T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127			32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)		TCAGGGTTTGCGTGGATGGAG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000377008.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	c	2.475	-0.321065	0.05386	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.59	-6.14	0.02111	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	0.8678	5.6596	0.17662	0.0:0.2003:0.281:0.5187	.	.	.	.	H	593;710	.	.	R	-	2	0	C1orf127	10930505	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-1.131000	0.02910	-0.930000	0.02707	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	16	135	0	20	0	7.777647e-01	0	26	0	20	2		0	0	0	0	0	2	1	0.999941	15	133	0	20	2								-3.222465	1	1	121400	1	28	1	1	2	3	2.049694	0	0.260000	1.920000	0.266673	0.840000	0.500000	1.000000	1.000000	0.830815	0.840000	0	6.500000e-01	1
VPS13D	55187	broad.mit.edu	37	1	12516159	12516159	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:12516159G>A	ENST00000358136.3	+	66	12569	c.12439G>A	c.(12439-12441)Gta>Ata	p.V4147I	VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000496628.1_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			TGAACACCTTGTAGCCGGCAT	0.532000																								0							SO:0001583	missense			ENST00000358136.3	0	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629524	0.96671	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766	T;T;T	0.78003	0.59;0.59;-1.14	5.84	5.84	0.93424	.	0.109616	0.64402	D	0.000009	D	0.86806	0.6021	M	0.71581	2.175	0.80722	D	1	P;D;D	0.67145	0.724;0.99;0.996	B;P;P	0.61940	0.372;0.896;0.889	D	0.85069	0.0939	10	0.40728	T	0.16	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	145;4122;4146	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	I	4122;4147;145	ENSP00000348666:V4122I;ENSP00000350854:V4147I;ENSP00000441122:V145I	ENSP00000348666:V4122I	V	+	1	0	VPS13D	12438746	1.000000	0.71417	0.694000	0.30210	0.991000	0.79684	7.571000	0.82399	2.748000	0.94277	0.650000	0.86243	GTA		TCGA-FB-AAPY-01A-11D-A40W-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	0	0	5	377	1	56	0	1.919548e-03	0	46	1	56	5		0	0	0	0	0	2	0	0.000920	5	372	1	55	21								-3.307309	1	1	0	0		1	1	2	3	2.049694	0	0.260000	1.920000	0.266673	0.110000	0.030000	1.000000	0.100000	0.169453	0.110000	0	6.000000e-02	1.800000e-01
DCAF8	50717	broad.mit.edu	37	1	160213756	160213756	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:160213756C>T	ENST00000368073.3	-	3	477	c.43G>A	c.(43-45)Gct>Act	p.A15T	DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8			33					TTACCATTAGCTAAGTCTGTT	0.463000																								0							SO:0001583	missense			ENST00000368073.3	1	1	hg19	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395161	0.62066	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000419626;ENST00000556710	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.13;-0.13	5.48	5.48	0.80851	.	0.098728	0.39020	U	0.001496	T	0.36552	0.0971	N	0.22421	0.69	0.38321	D	0.943512	P;B;B	0.37330	0.59;0.006;0.0	B;B;B	0.37304	0.246;0.007;0.0	T	0.33163	-0.9879	10	0.13108	T	0.6	.	14.4304	0.67246	0.0:0.8517:0.1483:0.0	.	169;15;15	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	T	15;15;15;169;15;15;15;15;15;169	ENSP00000357052:A15T;ENSP00000318227:A15T;ENSP00000357053:A15T;ENSP00000451989:A169T;ENSP00000451235:A169T	ENSP00000318227:A15T	A	-	1	0	RP11-574F21.3;DCAF8	158480380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.360000	0.44151	2.575000	0.86900	0.655000	0.94253	GCT		TCGA-FB-AAPY-01A-11D-A40W-08	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	1	0	1	112	771	0	191	1	9.644134e-01	7	32	0	191	2		0	0	0	0	0	2	1	1.000000	112	760	0	187	2								-20.000000	1	1	0	0		1	1	2	3	2.039386	0	0.260000	1.920000	0.264779	0.980000	0.810000	1.000000	1.000000	0.959085	0.980000	1	8.900000e-01	1
UBR4	23352	broad.mit.edu	37	1	19439055	19439055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:19439055G>A	ENST00000375254.3	-	78	11791	c.11764C>T	c.(11764-11766)Cgg>Tgg	p.R3922W	UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375267.2_Missense_Mutation_p.R3922W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W|UBR4_ENST00000375218.3_3'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			ACCTCCTCCCGCATGGCCGCA	0.602000																								0							SO:0001583	missense			ENST00000375254.3	0	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187593	0.78789	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.85	2.67	0.31697	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.85499	0.1190	10	0.87932	D	0	.	13.6518	0.62314	0.0:0.0:0.5163:0.4837	.	3922	Q5T4S7	UBR4_HUMAN	W	3922;3922;3915;3898	ENSP00000364403:R3922W;ENSP00000364416:R3922W;ENSP00000364365:R3915W;ENSP00000364374:R3898W	ENSP00000364365:R3915W	R	-	1	2	UBR4	19311642	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.609000	0.36858	0.734000	0.32515	0.655000	0.94253	CGG		TCGA-FB-AAPY-01A-11D-A40W-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0	5	407	0	65	0	3.058344e-02	0	18	0	65	2		0	0	0	0	0	2	1	0.936290	6	402	0	61	2								-2.642146	1	1	0	0		1	1	2	3	2.051659	0	0.260000	1.920000	0.267617	0.100000	0.030000	1.000000	0.100000	0.169033	0.100000	0	6.000000e-02	1.700000e-01
ADSS	159	broad.mit.edu	37	1	244574656	244574656	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:244574656C>T	ENST00000366535.3	-	12	1567	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase			12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		GTTCTTTAAACGCCCTTGCAT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000366535.3	1	1	hg19	CCDS1624.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	1	0	1	65	335	0	84	1	9.999951e-01	9	85	0	84	2		0	0	0	0	0	2	1	1.000000	66	333	0	84	2								-20.000000	1	1	121408	4	35	1	1	2	3	2.046262	0	0.260000	1.920000	0.266673	0.990000	0.990000	1.000000	1.000000	0.998896	0.990000	1	9.900000e-01	1
GRIK3	2899	broad.mit.edu	37	1	37307495	37307495	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:37307495C>T	ENST00000373091.3	-	10	1388	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3			89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			CGGTCATTCCCGTATAGCGTC	0.572000																								0							SO:0001583	missense			ENST00000373091.3	1	1	hg19	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779833	0.70222	2.27E-4	0.0	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.80123	-1.34;-1.34	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95656	0.8711	10	0.87932	D	0	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	458;458	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	458	ENSP00000362183:G458R;ENSP00000362185:G458R	ENSP00000362183:G458R	G	-	1	0	GRIK3	37080082	1.000000	0.71417	0.904000	0.35570	0.167000	0.22549	5.959000	0.70339	2.446000	0.82766	0.655000	0.94253	GGG		TCGA-FB-AAPY-01A-11D-A40W-08	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	1	81	610	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	79	602	0	107	2								-2.213283	0	1	121412	2	39	1	1	2	3	2.051659	0	0.260000	1.920000	0.267617	0.910000	0.730000	1.000000	1.000000	0.911585	0.910000	1	8.200000e-01	1
KRTAP19-3	337970	broad.mit.edu	37	21	31864178	31864178	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:31864178C>T	ENST00000334063.4	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3			9					ACCCAGTCTGCGGAAGCTGCC	0.582000																								0							SO:0001583	missense			ENST00000334063.4	1	1	hg19	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197214	0.22037	0.0	1.16E-4	ENSG00000244025	ENST00000334063	T	0.10668	2.85	4.72	-4.85	0.03142	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37033	-0.9723	8	0.87932	D	0	.	6.2846	0.21027	0.0:0.2226:0.3779:0.3996	.	33	Q7Z4W3	KR193_HUMAN	H	33	ENSP00000386376:R33H	ENSP00000386376:R33H	R	-	2	0	KRTAP19-3	30786049	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.462000	0.06704	-1.247000	0.02507	-0.218000	0.12543	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2	1	0	1	143	990	0	185		0	0	0	0	185	2		0	0	0	0	0	2	1	1.000000	141	958	0	183	2								-3.318794	1	1	121412	11	45	1	0	1	1	1.903979	0	0.260000	1.920000	0.209655	0.900000	0.770000	1.000000	1.000000	0.906844	0.900000	1	8.300000e-01	9.800000e-01
KIF1A	547	broad.mit.edu	37	2	241712602	241712602	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:241712602C>T	ENST00000320389.7	-	13	1267	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R370H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			CTTCAGCTCGCGGATCAGCTT	0.617000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777059	0.90195	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-0.89;-0.92;-1.0	3.83	3.83	0.44106	.	0.000000	0.85682	U	0.000000	D	0.90225	0.6944	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.93733	0.7043	10	0.87932	D	0	.	15.7385	0.77866	0.0:1.0:0.0:0.0	.	370;370;370	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	H	370	ENSP00000322791:R370H;ENSP00000438388:R370H;ENSP00000384231:R370H	ENSP00000322791:R370H	R	-	2	0	KIF1A	241361275	1.000000	0.71417	0.853000	0.33588	0.956000	0.61745	7.626000	0.83164	1.688000	0.51068	0.491000	0.48974	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	39	219	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	38	216	0	44	2								-19.480280	1	1	0	0		1	0	1	1	2.014424	0	0.260000	1.920000	0.258071	0.990000	0.840000	1.000000	1.000000	0.987272	0.990000	1	9.900000e-01	1
KLF15	28999	broad.mit.edu	37	3	126070729	126070729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:126070729G>A	ENST00000296233.3	-	2	1267	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15			12					CTTCTCACCCGTGTGCCGGCG	0.592000																								0							SO:0001583	missense			ENST00000296233.3	0	1	hg19	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439084	0.83885	.	.	ENSG00000163884	ENST00000296233	T	0.26373	1.74	5.37	5.37	0.77165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60520	-0.7247	10	0.72032	D	0.01	.	16.9708	0.86298	0.0:0.0:1.0:0.0	.	346	Q9UIH9	KLF15_HUMAN	M	346	ENSP00000296233:T346M	ENSP00000296233:T346M	T	-	2	0	KLF15	127553419	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	9.792000	0.99085	2.688000	0.91661	0.491000	0.48974	ACG		TCGA-FB-AAPY-01A-11D-A40W-08	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	1	0	0	5	117	0	15	0	8.744613e-02	0	10	0	15	2		0	0	0	0	0	2	1	0.936144	6	114	0	14	2								-3.397408	1	1	121382	1	31	1	0	1	1	1.924892	0	0.260000	1.920000	0.221544	0.320000	0.120000	0.630000	0.290000	0.343698	0.320000	0	2.000000e-01	4.700000e-01
EIF2B5	8893	broad.mit.edu	37	3	183854501	183854501	+	Silent	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:183854501T>A	ENST00000273783.3	+	2	419	c.297T>A	c.(295-297)gcT>gcA	p.A99A	EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000444495.1_Silent_p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa			27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		GCTGGAAAGCTGCTCAAATCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000273783.3	0	1	hg19	CCDS3252.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	0	0	0	7	903	0	168	0	1.276068e-01	1	68	0	168	2		0	0	0	0	0	2	1	0.979514	7	889	0	167	2								-4.899695	1	1	0	0		1	0	1	1	1.924892	0	0.260000	1.920000	0.221544	0.050000	0.010000	0.110000	0.060000	0.063907	0.050000	0	3.000000e-02	9.000000e-02
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63			61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)		TGTTATCCGCGCCATGCCTGT	0.517000										HNSCC(45;0.13)														0							SO:0001583	missense			ENST00000264731.3	0	1	hg19	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	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	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		TCGA-FB-AAPY-01A-11D-A40W-08	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	0	0	0	5	499	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	0.934826	6	489	0	79	2								-2.270054	0	1	0	0		1	0	1	1	1.924892	0	0.260000	1.920000	0.221544	0.070000	0.020000	0.160000	0.070000	0.086106	0.070000	0	4.000000e-02	1.200000e-01
FLNB	2317	broad.mit.edu	37	3	58120468	58120468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:58120468C>T	ENST00000295956.4	+	27	4805	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000357272.4_Missense_Mutation_p.A1547V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V|FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta			120					GCCCGAGATGCCGGGGAAGGC	0.483000																								0		GRCh37	CM061773	FLNB	M		SO:0001583	missense			ENST00000295956.4	0	1	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522694	0.96431	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.90595	3.13	0.80722	D	1	P;D;P;D;P;P	0.71674	0.832;0.998;0.879;0.977;0.917;0.917	P;D;P;P;P;P	0.77557	0.55;0.99;0.67;0.809;0.863;0.863	D	0.95415	0.8502	10	0.87932	D	0	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1547;1578;1378;1378;1547;1547	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1547;1578;1547;1547;1547;1547;1378;1378	ENSP00000295956:A1547V;ENSP00000420213:A1578V;ENSP00000351339:A1547V;ENSP00000415599:A1547V;ENSP00000232447:A1547V;ENSP00000349819:A1547V;ENSP00000418510:A1378V;ENSP00000414532:A1378V	ENSP00000295956:A1547V	A	+	2	0	FLNB	58095508	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	7.764000	0.85297	2.669000	0.90835	0.563000	0.77884	GCC		TCGA-FB-AAPY-01A-11D-A40W-08	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	0	6	709	0	127	0	2.417209e-01	0	96	0	127	2		0	0	0	0	0	2	1	0.961540	6	688	0	122	2								-1.924228	0	1	0	0		1	0	1	1	1.924892	0	0.260000	1.920000	0.221544	0.060000	0.020000	0.130000	0.060000	0.071047	0.060000	0	3.000000e-02	1.000000e-01
PPIP5K2	23262	broad.mit.edu	37	5	102509562	102509562	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:102509562G>A	ENST00000358359.3	+	21	2924	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000321521.9_Splice_Site_p.V805V|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2			42					CTAATTTTAGGTATTCTAGAG	0.303000																								0							SO:0001630	splice_region_variant			ENST00000358359.3	1	0	hg19																																																																																					TCGA-FB-AAPY-01A-11D-A40W-08	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	1	0	1	36	215	0	29	0	4.898907e-01	1	10	0	29	2		0	0	0	0	0	2	1	1.000000	36	212	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.044124	0	0.260000	1.920000	0.265727	0.990000	0.800000	1.000000	1.000000	0.978998	0.990000	1	9.500000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140176342	140176342	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:140176342A>G	ENST00000526136.1	+	1	1793	c.1793A>G	c.(1792-1794)gAc>gGc	p.D598G	PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGCGCAGTGGACGCTGACTCA	0.662000																								0							SO:0001583	missense			ENST00000526136.1	1	1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.62	2.588873	0.46110	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61627	0.09;0.09;0.09	3.91	3.91	0.45181	Cadherin (4);Cadherin-like (1);	0.000000	0.41194	U	0.000923	D	0.84433	0.5471	H	0.99261	4.49	0.46222	D	0.998935	D;D;D	0.62365	0.967;0.991;0.967	P;D;D	0.68039	0.799;0.923;0.955	D	0.90120	0.4198	10	0.87932	D	0	.	12.7909	0.57533	1.0:0.0:0.0:0.0	.	598;598;598	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	G	598	ENSP00000430584:D598G;ENSP00000367372:D598G;ENSP00000431748:D598G	ENSP00000367372:D598G	D	+	2	0	PCDHA2	140156526	1.000000	0.71417	0.959000	0.39883	0.110000	0.19582	8.674000	0.91191	1.563000	0.49615	0.449000	0.29647	GAC		TCGA-FB-AAPY-01A-11D-A40W-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	58	388	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	55	382	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.044124	0	0.260000	1.920000	0.265727	0.990000	0.780000	1.000000	1.000000	0.960066	0.990000	1	8.900000e-01	1
PCSK1	5122	broad.mit.edu	37	5	95757592	95757592	+	Silent	SNP	G	G	A	rs6231	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:95757592G>A	ENST00000311106.3	-	5	849	c.612C>T	c.(610-612)aaC>aaT	p.N204N	PCSK1_ENST00000508626.1_Silent_p.N157N|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1			36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTTGTTCTCGTTTGTGGGAT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000311106.3	1	0	hg19	CCDS4081.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	0	0	1	85	644	0	178	0	1.955121e-01	0	7	0	178	2		0	0	0	0	0	2	1	1.000000	80	612	0	177	2								-10.387400	1	1	121412	2126	68	1	1	2	3	2.044124	0	0.260000	1.920000	0.265727	0.900000	0.730000	1.000000	1.000000	0.904831	0.900000	1	8.100000e-01	1
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:10764813G>A	ENST00000313243.2	-	14	2126	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	p.R582R(1)		22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)			AACTGCCCCCGACCAGTTTTT	0.398000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000313243.2	1	1	hg19	CCDS4516.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.660715	0.88154	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.74002	-0.8;-0.8	5.66	5.66	0.87406	.	0.265585	0.36932	N	0.002337	D	0.83704	0.5312	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	D	0.85294	0.1069	10	0.87932	D	0	.	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582	P20794	MAK_HUMAN	W	582	ENSP00000313021:R582W;ENSP00000346484:R582W	ENSP00000313021:R582W	R	-	1	2	MAK	10872799	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	6.187000	0.72039	2.648000	0.89879	0.655000	0.94253	CGG		TCGA-FB-AAPY-01A-11D-A40W-08	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	1	0	0	87	512	0	152	0	0	0	1	0	152	2		0	0	0	0	0	2	1	1.000000	86	505	0	147	2								-3.075884	1	1	121408	17	46	1	0	1	1	1.907629	0	0.260000	1.920000	0.220478	0.990000	0.860000	1.000000	1.000000	0.982986	0.990000	1	9.500000e-01	1
XPO5	57510	broad.mit.edu	37	6	43540277	43540277	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:43540277T>C	ENST00000265351.7	-	3	476	c.266A>G	c.(265-267)tAt>tGt	p.Y89C		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5			34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		GTTCTTCAGATACACCTTCTC	0.423000																								0							SO:0001583	missense			ENST00000265351.7	0	1	hg19	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122120	0.37436	.	.	ENSG00000124571	ENST00000265351	T	0.67523	-0.27	4.88	0.572	0.17357	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (1);	0.296130	0.34411	N	0.003997	T	0.27169	0.0666	N	0.20986	0.625	0.47374	D	0.999402	B	0.02656	0.0	B	0.01281	0.0	T	0.07309	-1.0779	10	0.39692	T	0.17	-8.5042	5.3596	0.16081	0.3917:0.0735:0.0:0.5348	.	89	Q9HAV4	XPO5_HUMAN	C	89	ENSP00000265351:Y89C	ENSP00000265351:Y89C	Y	-	2	0	XPO5	43648255	0.998000	0.40836	0.987000	0.45799	0.975000	0.68041	2.130000	0.42064	0.258000	0.21686	-0.336000	0.08194	TAT		TCGA-FB-AAPY-01A-11D-A40W-08	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	0	0	0	8	340	0	71	0	1.810591e-02	0	8	0	71	2		0	0	0	0	0	2	1	0.989196	8	337	0	70	2								-8.442419	1	1	0	0		1	0	1	1	1.899097	1	0.260000	1.920000	0.211844	0.170000	0.070000	0.310000	0.170000	0.183736	0.170000	0	1.100000e-01	2.400000e-01
CDYL	9425	broad.mit.edu	37	6	4892101	4892101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:4892101C>T	ENST00000328908.5	+	4	472	c.341C>T	c.(340-342)aCg>aTg	p.T114M	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like			30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)			AGACGCCACACGGAGAAGCAG	0.507000																								0							SO:0001583	missense			ENST00000328908.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.820	0.937390	0.18206	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.55930	0.97;0.49	5.79	1.46	0.22682	Chromo domain-like (1);Chromo domain/shadow (2);	0.437153	0.26029	N	0.026769	T	0.19127	0.0459	L	0.57536	1.79	0.09310	N	0.999993	B;B	0.27140	0.037;0.169	B;B	0.20577	0.025;0.03	T	0.13176	-1.0519	10	0.28530	T	0.3	.	2.7961	0.05401	0.3942:0.3057:0.2149:0.0852	.	60;114	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	M	114;60	ENSP00000330512:T114M;ENSP00000380718:T60M	ENSP00000330512:T114M	T	+	2	0	CDYL	4837100	0.057000	0.20700	0.224000	0.23877	0.400000	0.30750	0.442000	0.21628	0.327000	0.23409	0.650000	0.86243	ACG		TCGA-FB-AAPY-01A-11D-A40W-08	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	0	0	0	5	258	0	50	0	4.257413e-02	0	14	0	50	2		0	0	0	0	0	2	1	0.934947	5	254	0	48	2								-3.014201	1	1	121412	1	35	1	0	1	1	1.907629	0	0.260000	1.920000	0.220478	0.140000	0.050000	0.300000	0.140000	0.163121	0.140000	0	9.000000e-02	2.200000e-01
PARP12	64761	broad.mit.edu	37	7	139756817	139756817	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:139756817T>A	ENST00000263549.3	-	3	1472	c.599A>T	c.(598-600)gAt>gTt	p.D200V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12			19	Melanoma(164;0.0142)				ATTAGAGAAATCATGGGATCT	0.438000																								0							SO:0001583	missense			ENST00000263549.3	1	1	hg19	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127084	0.37533	.	.	ENSG00000059378	ENST00000263549	T	0.40756	1.02	5.31	2.88	0.33553	Zinc finger, CCCH-type (3);	0.829138	0.11297	N	0.578676	T	0.41558	0.1164	M	0.69358	2.11	0.22581	N	0.998967	B	0.14438	0.01	B	0.19946	0.027	T	0.41484	-0.9506	10	0.72032	D	0.01	.	7.4741	0.27365	0.1274:0.0701:0.0:0.8025	.	200	Q9H0J9	PAR12_HUMAN	V	200	ENSP00000263549:D200V	ENSP00000263549:D200V	D	-	2	0	PARP12	139403286	0.998000	0.40836	0.644000	0.29465	0.955000	0.61496	2.199000	0.42715	0.393000	0.25203	0.445000	0.29226	GAT		TCGA-FB-AAPY-01A-11D-A40W-08	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	1	0	1	71	477	0	94	1	6.983821e-01	3	15	0	94	2		0	0	0	0	0	2	1	1.000000	71	476	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.052201	0	0.260000	1.920000	0.267617	0.990000	0.800000	1.000000	1.000000	0.964149	0.990000	1	9.000000e-01	1
DMRT3	58524	broad.mit.edu	37	9	990483	990483	+	Silent	SNP	C	C	T	rs145231691	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:990483C>T	ENST00000190165.2	+	2	935	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3			26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)			AGCGAACTTCCGCAGAACCTG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000190165.2	1	1	hg19	CCDS6443.1																																																																																				TCGA-FB-AAPY-01A-11D-A40W-08	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	1	0	1	65	255	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	64	251	0	40	2								-2.948555	1	1	121412	60	51	1	0	1	1	1.766215	1	0.260000	1.920000	0.149425	0.960000	0.860000	1.000000	0.990000	0.964234	0.960000	1	9.200000e-01	1
AFF2	2334	broad.mit.edu	37	X	148072839	148072839	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:148072839C>T	ENST00000370460.2	+	21	4392	c.3913C>T	c.(3913-3915)Cgc>Tgc	p.R1305C	AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C|AFF2_ENST00000286437.5_Missense_Mutation_p.R946C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				GTGTTGGCTGCGCATCGATGC	0.542000																								0							SO:0001583	missense			ENST00000370460.2	1	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676515	0.88445	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.995;0.995;0.979;0.979;0.988	D	0.88026	0.2772	10	0.87932	D	0	.	18.3752	0.90433	0.0:1.0:0.0:0.0	.	946;1270;1270;1266;1295;1305	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	1305;1270;1272;946	ENSP00000359489:R1305C;ENSP00000359486:R1270C;ENSP00000345459:R1272C;ENSP00000286437:R946C	ENSP00000286437:R946C	R	+	1	0	AFF2	147880545	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.696000	0.84270	2.279000	0.76181	0.594000	0.82650	CGC		TCGA-FB-AAPY-01A-11D-A40W-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1	112	362	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	112	360	0	82	2								-20.000000	1	1	121404	1	31	1	0	1	1			0.260000	1.920000	0.260000	0.890000	0.750000	0.990000	0.900000	0.892045	0.890000	1	8.200000e-01	9.600000e-01
KDM6A	7403	broad.mit.edu	37	X	44833922	44833922	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:44833922T>C	ENST00000377967.4	+	4	387	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	p.0(14)|p.0?(6)|p.?(1)		170					ATTATCTGCATACCAGAGGTA	0.348000			D, N, F, S		renal, oesophageal SCC, MM								Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	lysine (K)-specific demethylase 6A, UTX		E, L	21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)						SO:0001583	missense			ENST00000377967.4	0	1	hg19	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597277	0.66332	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.76709	2.23;2.23;-1.04;2.23	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116882	0.64402	D	0.000012	D	0.87402	0.6168	M	0.82823	2.61	0.51233	D	0.999919	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.995;0.997	D;D;D;D;D	0.79784	0.991;0.983;0.993;0.969;0.961	D	0.88806	0.3288	10	0.87932	D	0	-7.0249	10.9422	0.47281	0.0:0.0:0.0:1.0	.	116;116;116;116;116	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	H	116	ENSP00000367203:Y116H;ENSP00000437405:Y116H;ENSP00000372355:Y116H;ENSP00000443078:Y116H	ENSP00000367203:Y116H	Y	+	1	0	KDM6A	44718866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	1.853000	0.53794	0.441000	0.28932	TAC		TCGA-FB-AAPY-01A-11D-A40W-08	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	0	0	0	4	230	0	41	0	5.055988e-03	0	5	0	41	2	0	5.055988e-03	0	5	0	4	2	1	0.891132	4	230	0	41	2								-5.974334	1	1	0	0		1	0	1	1			0.260000	1.920000	0.260000	0.070000	0.020000	0.160000	0.070000	0.080490	0.070000	0	4.000000e-02	1.100000e-01
FAM104B	90736	broad.mit.edu	37	X	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	rs5018687	by1000genomes	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:55172659A>G	ENST00000358460.4	-	3	359	c.206T>C	c.(205-207)aTt>aCt	p.I69T	FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000425133.2_Missense_Mutation_p.I70T			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	p.I70T(2)		8					TTCAGTAACAATCTGGTTTAA	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000358460.4	0	1	hg19	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	a	7.632	0.678969	0.14841	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	1.6	-0.877	0.10621	.	0.273281	0.24341	N	0.039374	T	0.34424	0.0897	N	0.20685	0.6	0.09310	N	1	B;B;B	0.33000	0.007;0.393;0.393	B;P;B	0.51701	0.003;0.677;0.291	T	0.41215	-0.9521	10	0.21014	T	0.42	-1.7781	4.1887	0.10411	0.5262:0.0:0.4738:0.0	rs5018687;rs5018687	70;69;70	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	T	69;70;70;66;68	ENSP00000364101:I69T;ENSP00000333394:I70T;ENSP00000397188:I70T;ENSP00000421161:I66T;ENSP00000423164:I68T	ENSP00000333394:I70T	I	-	2	0	FAM104B	55189384	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.374000	0.07484	-0.346000	0.08312	0.356000	0.21956	ATT		TCGA-FB-AAPY-01A-11D-A40W-08	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	0	0	0	6	290	0	55	0	5.848170e-01	0	89	0	55	2		0	0	0	0	0	2	0	0.012911	5	283	1	58	17								-2.129250	0	1	0	0		1	0	1	1			0.260000	1.920000	0.260000	0.080000	0.030000	0.160000	0.080000	0.089472	0.080000	0	5.000000e-02	1.200000e-01
