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
SMYD3	64754	broad.mit.edu	37	1	246078893	246078893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			T	-	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:246078893delT	ENST00000388985.4	-	8	751	c.752delA	c.(751-753)aagfs	p.K251fs	SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Frame_Shift_Del_p.K192fs			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3			17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)		CCTCAGCTGCTTCCGGCGCTC	0.527000																								0							SO:0001589	frameshift_variant			ENST00000388985.4	1	1	hg19	CCDS53486.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	78	420	0	97	0	9.969400e-01	0	49	0	97	2	0	0	0	0	0	0		1	1.000000	88	415	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.124265	0	0.520000	1.830000	0.522483	0.600000	4.800000e-01	0.750000	0.610000	0.613556	0.600000	0	5.400000e-01	6.800000e-01
RBP3	5949	broad.mit.edu	37	10	48389752	48389752	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:48389752G>A	ENST00000224600.4	-	1	1239	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial			59				Vitamin A(DB00162)	GCAGCCTGCAGGCCGGCATTG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000224600.4	1	1	hg19	CCDS7218.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	1	0	1	52	187	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	52	184	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.134617	0	0.520000	1.830000	0.524941	0.840000	6.500000e-01	1.000000	1.000000	0.851735	0.840000	0	7.400000e-01	9.700000e-01
SF3B2	10992	broad.mit.edu	37	11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:65826742C>T	ENST00000322535.6	+	11	1302	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A401V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa			41					AACTCTGCAGCCCCCAAGAAG	0.532000																								0							SO:0001583	missense			ENST00000322535.6	1	1	hg19	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315405	0.23908	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	-0.939	0.10408	.	0.379232	0.29073	N	0.013223	T	0.23289	0.0563	L	0.27053	0.805	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	9	0.18276	T	0.48	0.0053	8.4596	0.32921	0.0:0.4852:0.0:0.5148	.	418	Q13435	SF3B2_HUMAN	V	401;418;322	.	ENSP00000318861:A418V	A	+	2	0	SF3B2	65583318	0.339000	0.24784	0.028000	0.17463	0.984000	0.73092	0.269000	0.18589	-0.516000	0.06470	0.555000	0.69702	GCC		TCGA-2J-AABU-01A-11D-A40W-08	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2	1	0	1	26	97	0	24	1	1	56	106	0	24	2		0	0	0	0	0	2	1	1.000000	24	94	0	24	2								-18.327550	1	1	0	0		1	1	2	3	2.120231	0	0.520000	1.830000	0.522483	0.810000	5.600000e-01	1.000000	1.000000	0.821772	0.810000	0	6.800000e-01	9.700000e-01
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	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	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-2J-AABU-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	80	146	0	84	1	9.570018e-01	5	7	0	84	2	1	1	84	180	0	272	2	1	1.000000	80	145	0	82	2								-20.000000	1	1	0	0		1	1	3	4	2.973774	1	0.520000	1.830000	0.655963	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH3	23416	broad.mit.edu	37	12	49943305	49943305	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49943305G>A	ENST00000257981.6	+	9	1810	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					TACCACAGCCGCACGCGCGAC	0.637000																								0							SO:0001583	missense			ENST00000257981.6	1	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976805	0.92982	.	.	ENSG00000135519	ENST00000257981	D	0.96802	-4.13	4.89	4.0	0.46444	Cyclic nucleotide-binding-like (1);	0.136777	0.34460	N	0.003957	D	0.93406	0.7897	M	0.65320	2	0.44073	D	0.996821	P	0.51791	0.948	B	0.36186	0.219	D	0.92864	0.6308	10	0.72032	D	0.01	.	11.3196	0.49412	0.0892:0.0:0.9108:0.0	.	517	Q9ULD8	KCNH3_HUMAN	H	517	ENSP00000257981:R517H	ENSP00000257981:R517H	R	+	2	0	KCNH3	48229572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.599000	0.74127	1.441000	0.47550	-0.140000	0.14226	CGC		TCGA-2J-AABU-01A-11D-A40W-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1	80	130	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	54	87	0	60	2								-20.000000	1	1	121400	2	32	1	0	1	1	1.727803	1	0.520000	1.830000	0.366922	0.990000	8.700000e-01	1.000000	1.000000	0.983093	0.990000	1	9.500000e-01	1
LUM	4060	broad.mit.edu	37	12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	p.R170R(1)		24					TCTTTCAGCCGATTGTGCTGG	0.443000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000266718.4	1	1	hg19	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841053	0.32513	.	.	ENSG00000139329	ENST00000266718	T	0.58652	0.32	5.6	5.6	0.85130	.	0.355674	0.30329	N	0.009863	T	0.64583	0.2611	L	0.49699	1.58	0.26729	N	0.970633	P	0.49090	0.919	P	0.53062	0.717	T	0.61831	-0.6982	10	0.59425	D	0.04	-14.9632	15.1305	0.72520	0.0:0.1408:0.8592:0.0	.	170	P51884	LUM_HUMAN	W	170	ENSP00000266718:R170W	ENSP00000266718:R170W	R	-	1	2	LUM	90026380	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	2.608000	0.46308	2.648000	0.89879	0.557000	0.71058	CGG		TCGA-2J-AABU-01A-11D-A40W-08	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	1	0	1	103	180	0	129	1	1	10	708	0	129	2		0	0	0	0	0	2	1	1.000000	101	179	0	129	2								-13.406100	1	1	121412	1	28	1	0	1	1	1.727803	1	0.520000	1.830000	0.366922	0.990000	8.700000e-01	1.000000	1.000000	0.980157	0.990000	1	9.400000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24886612	24886612	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24886612A>G	ENST00000382554.3	+	9	5975	c.5657A>G	c.(5656-5658)aAg>aGg	p.K1886R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					GCCTTTGCCAAGAGTGGCACC	0.637000																								0							SO:0001583	missense			ENST00000382554.3	0	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706588	0.48412	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	3.72	0.42706	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.22954	N	0.998512	B	0.15719	0.014	B	0.12156	0.007	T	0.28554	-1.0040	9	0.62326	D	0.03	.	7.2504	0.26146	0.8999:0.0:0.1001:0.0	.	1886	Q9P2P1	NYNRI_HUMAN	R	1886	ENSP00000371994:K1886R	ENSP00000371994:K1886R	K	+	2	0	NYNRIN	23956452	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.953000	0.56699	0.983000	0.38602	0.460000	0.39030	AAG		TCGA-2J-AABU-01A-11D-A40W-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	7	28	0	8	1	8.798727e-01	6	12	0	8	2		0	0	0	0	0	2	1	0.980718	7	26	0	8	2								-18.771150	1	1	0	0		1	0	1	1	2.086969	0	0.520000	1.830000	0.518749	0.780000	3.700000e-01	1.000000	1.000000	0.772601	0.780000	0	5.500000e-01	1
FBN1	2200	broad.mit.edu	37	15	48714160	48714160	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:48714160G>A	ENST00000316623.5	-	61	8014	c.7559C>T	c.(7558-7560)aCg>aTg	p.T2520M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			AATGCAGGACGTATGGTGTTG	0.433000																								0		GRCh37	CM074795	FBN1	M		SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480453	0.63849	.	.	ENSG00000166147	ENST00000316623	D	0.92858	-3.12	6.08	6.08	0.98989	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091594	0.85682	D	0.000000	D	0.95214	0.8448	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.93720	0.7032	10	0.40728	T	0.16	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2520	P35555	FBN1_HUMAN	M	2520	ENSP00000325527:T2520M	ENSP00000325527:T2520M	T	-	2	0	FBN1	46501452	1.000000	0.71417	0.849000	0.33467	0.618000	0.37518	5.623000	0.67757	2.894000	0.99253	0.655000	0.94253	ACG		TCGA-2J-AABU-01A-11D-A40W-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	48	159	0	54	1	1	6	100	0	54	2		0	0	0	0	0	2	1	1.000000	48	159	0	53	2								-20.000000	1	1	121410	3	34	1	1	2	3	2.101358	0	0.520000	1.830000	0.521245	0.890000	6.800000e-01	1.000000	1.000000	0.887805	0.890000	1	7.800000e-01	1
FSD2	123722	broad.mit.edu	37	15	83428187	83428187	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:83428187A>T	ENST00000334574.8	-	13	2344	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	FSD2_ENST00000541889.1_Missense_Mutation_p.F676L|RP11-752G15.6_ENST00000559366.1_RNA|RP11-752G15.6_ENST00000561107.1_RNA|RP11-752G15.6_ENST00000558174.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2			18					AGGGATGCACAAATTCGTGAA	0.353000																								0							SO:0001583	missense			ENST00000334574.8	1	1	hg19	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	a	7.160	0.585445	0.13749	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.12774	2.65;2.65	5.86	0.72	0.18214	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.615004	0.18017	N	0.154344	T	0.06416	0.0165	N	0.17312	0.475	0.21652	N	0.999601	B;B	0.09022	0.001;0.002	B;B	0.14578	0.008;0.011	T	0.43180	-0.9407	10	0.11485	T	0.65	-4.2398	6.5093	0.22212	0.4824:0.3813:0.1363:0.0	.	676;721	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	721;676	ENSP00000335651:F721L;ENSP00000444078:F676L	ENSP00000335651:F721L	F	-	3	2	FSD2	81225241	0.478000	0.25917	0.213000	0.23690	0.726000	0.41606	-0.045000	0.12003	0.146000	0.19002	-0.319000	0.08680	TTT		TCGA-2J-AABU-01A-11D-A40W-08	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	1	0	1	24	69	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1.000000	24	69	0	26	2								-20.000000	1	1	0	0		1	0	0	0	2.093065	0	0.520000	1.830000	0.520000	0.980000	6.800000e-01	1.000000	1.000000	0.932782	0.980000	1	8.200000e-01	1
ADAM11	4185	broad.mit.edu	37	17	42851860	42851860	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:42851860T>C	ENST00000200557.6	+	13	1247	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11			33		Prostate(33;0.0959)			CCACCCCCAGTACGGCAACAT	0.632000																								0							SO:0001630	splice_region_variant			ENST00000200557.6	1	0	hg19	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812808	0.90707	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09817	2.94;2.94	5.04	5.04	0.67666	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.213347	0.41605	D	0.000843	T	0.23926	0.0579	L	0.45051	1.395	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.73708	0.98;0.981	T	0.00675	-1.1615	9	.	.	.	.	13.8849	0.63702	0.0:0.0:0.0:1.0	.	160;360	B4DKD2;O75078	.;ADA11_HUMAN	H	360;160;260	ENSP00000200557:Y360H;ENSP00000443773:Y160H	.	Y	+	1	0	ADAM11	40207386	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.862000	0.69560	2.111000	0.64477	0.379000	0.24179	TAC		TCGA-2J-AABU-01A-11D-A40W-08	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	1	0	1	26	85	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	25	85	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.137818	0	0.520000	1.830000	0.526160	0.920000	6.300000e-01	1.000000	1.000000	0.895788	0.920000	1	7.600000e-01	1
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R	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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CACCACACTATGTCGAAAAGT	0.542000		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	98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)						SO:0001583	missense	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	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		TCGA-2J-AABU-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	52	73	0	41	1	9.879510e-01	6	7	0	41	2	1	1	234	478	0	920	2	1	1.000000	52	72	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.589102	1	0.520000	1.830000	0.353622	0.960000	8.300000e-01	1.000000	1.000000	0.958405	0.960000	1	9.100000e-01	1
ATP8B3	148229	broad.mit.edu	37	19	1785511	1785511	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:1785511G>A	ENST00000310127.6	-	26	3588	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1127V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3			23		Hepatocellular(1079;0.137)			CACCACGACCGCAAAGGACTG	0.637000																								0							SO:0001583	missense			ENST00000310127.6	0	1	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777695	0.70107	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.41400	1.0;1.0;1.0	4.48	0.765	0.18470	.	0.470389	0.21414	N	0.074937	T	0.52964	0.1767	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53760	0.51;0.734	T	0.55042	-0.8202	10	0.87932	D	0	.	14.0541	0.64756	0.0:0.4546:0.5454:0.0	.	1117;1080	O60423;Q7Z485	AT8B3_HUMAN;.	V	1117;1127;1080	ENSP00000311336:A1117V;ENSP00000443574:A1127V;ENSP00000437115:A1080V	ENSP00000311336:A1117V	A	-	2	0	ATP8B3	1736511	0.992000	0.36948	0.000000	0.03702	0.063000	0.16089	6.399000	0.73248	-0.033000	0.13736	-0.175000	0.13238	GCG		TCGA-2J-AABU-01A-11D-A40W-08	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	0	0	0	4	140	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.865657	4	126	0	50	2								-3.326518	1	1	120970	5	35	1	0	1	1	1.614889	1	0.520000	1.830000	0.353622	0.080000	2.000000e-02	0.190000	0.080000	0.096579	0.080000	0	5.000000e-02	1.400000e-01
C19orf35	374872	broad.mit.edu	37	19	2278825	2278825	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:2278825A>T	ENST00000342063.3	-	3	463	c.370T>A	c.(370-372)Tcc>Acc	p.S124T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35			8					TCGCGGAGGGAGAGGCCCAGT	0.687000																								0							SO:0001583	missense			ENST00000342063.3	0	1	hg19	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655242	0.14580	.	.	ENSG00000188305	ENST00000342063	T	0.14144	2.53	4.16	-0.449	0.12226	.	.	.	.	.	T	0.08179	0.0204	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.29176	0.099	T	0.37103	-0.9720	9	0.11485	T	0.65	.	4.3547	0.11172	0.4382:0.0:0.3987:0.1632	.	124	Q6ZS72	CS035_HUMAN	T	124	ENSP00000345102:S124T	ENSP00000345102:S124T	S	-	1	0	C19orf35	2229825	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.277000	0.08502	-0.538000	0.06281	0.363000	0.22086	TCC		TCGA-2J-AABU-01A-11D-A40W-08	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	0	0	1	6	28	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	0.969841	6	28	0	12	2								-13.880320	1	1	0	0		1	0	1	1	1.614889	1	0.520000	1.830000	0.353622	0.500000	2.200000e-01	0.860000	0.480000	0.522572	0.500000	0	3.400000e-01	6.900000e-01
PSG3	5671	broad.mit.edu	37	19	43237088	43237088	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:43237088C>T	ENST00000327495.5	-	3	741	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3			36		Prostate(69;0.00682)			CATAGGGAGGCTCTGACCATT	0.488000																								0							SO:0001583	missense			ENST00000327495.5	1	1	hg19	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	7.246	0.602252	0.13939	.	.	ENSG00000221826	ENST00000327495	T	0.12361	2.69	1.59	-1.53	0.08611	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12774	0.0310	M	0.64567	1.98	0.09310	N	1	B;B	0.28378	0.209;0.006	B;B	0.30782	0.12;0.012	T	0.36212	-0.9757	9	0.54805	T	0.06	.	2.5923	0.04846	0.0:0.4556:0.3146:0.2298	.	164;186	Q08266;Q16557	.;PSG3_HUMAN	N	186	ENSP00000332215:S186N	ENSP00000332215:S186N	S	-	2	0	PSG3	47928928	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-0.592000	0.05747	0.021000	0.15133	0.393000	0.25936	AGC		TCGA-2J-AABU-01A-11D-A40W-08	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	1	0	1	247	852	0	309		0	0	0	0	309	2		0	0	0	0	0	2	1	1.000000	241	828	0	316	2								-20.000000	1	1	0	0		1						0.520000	1.830000									0	0
PNKP	11284	broad.mit.edu	37	19	50365046	50365046	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:50365046G>A	ENST00000322344.3	-	14	1390	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	PNKP_ENST00000600910.1_Intron|PNKP_ENST00000600573.1_Silent_p.D396D|AC018766.5_ENST00000599259.1_RNA|PNKP_ENST00000596014.1_Silent_p.D427D|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase			19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			GGCTCGCGGCGTCTGGGTTTG	0.687000								Other BER factors																0							SO:0001819	synonymous_variant			ENST00000322344.3	0	1	hg19	CCDS12783.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	1	0	0	7	18	0	10	1	9.629777e-01	6	13	0	10	2		0	0	0	0	0	2	1	0.973630	6	15	0	10	2								-17.026380	1	1	118868	10	37	1	0	1	1	1.746683	1	0.520000	1.830000	0.403727	0.820000	4.100000e-01	1.000000	1.000000	0.803806	0.820000	0	5.900000e-01	1
ZNF160	90338	broad.mit.edu	37	19	53572263	53572263	+	Silent	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:53572263A>C	ENST00000429604.1	-	7	1939	c.1524T>G	c.(1522-1524)ccT>ccG	p.P508P	ZNF160_ENST00000599056.1_Silent_p.P508P|ZNF160_ENST00000601421.1_Silent_p.P472P|ZNF160_ENST00000418871.1_Silent_p.P508P	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160			35					TACACTTGTAAGGTTTCTCTC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000429604.1	1	1	hg19	CCDS12859.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	1	0	1	100	298	0	155	1	1.597685e-01	3	0	0	155	2		0	0	0	0	0	2	1	1.000000	100	291	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.140422	0	0.520000	1.830000	0.526160	0.970000	8.100000e-01	1.000000	1.000000	0.957726	0.970000	1	8.900000e-01	1
COL24A1	255631	broad.mit.edu	37	1	86196283	86196283	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:86196283A>G	ENST00000370571.2	-	60	5457	c.5091T>C	c.(5089-5091)caT>caC	p.H1697H	COL24A1_ENST00000436319.1_Silent_p.H1676H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					CAGTTTTGAGATGAGGAAGTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000370571.2	1	1	hg19	CCDS41353.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	68	183	0	75	0	3.012061e-01	0	4	0	75	2		0	0	0	0	0	2	1	1.000000	67	181	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.142653	0	0.520000	1.830000	0.526160	0.990000	8.400000e-01	1.000000	1.000000	0.981005	0.990000	1	9.400000e-01	1
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			20					CCGCAAGAGCGCAAGCTCCCG	0.478000																								0							SO:0001583	missense			ENST00000381151.3	0	1	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		TCGA-2J-AABU-01A-11D-A40W-08	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	0	0	0	5	210	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	0.937507	5	209	0	83	2								-2.768101	1	1	0	0		1	0	1	1	1.570314	1	0.520000	1.830000	0.351351	0.060000	2.000000e-02	0.140000	0.070000	0.078015	0.060000	0	4.000000e-02	1.100000e-01
THSD7B	80731	broad.mit.edu	37	2	138163324	138163324	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:138163324C>T	ENST00000409968.1	+	13	2820	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					TCCAAGTTTACGCCCTGCTCC	0.502000																								0							SO:0001583	missense			ENST00000409968.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.45	3.393937	0.62066	0.0	3.59E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.59	5.59	0.84812	.	0.105674	0.64402	D	0.000003	T	0.77003	0.4067	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.77710	-0.2486	10	0.66056	D	0.02	.	19.5832	0.95478	0.0:1.0:0.0:0.0	.	881;850	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	881;881;850	ENSP00000387145:T881M;ENSP00000272643:T881M;ENSP00000413841:T850M	ENSP00000272643:T881M	T	+	2	0	THSD7B	137879794	0.999000	0.42202	0.966000	0.40874	0.381000	0.30169	4.450000	0.60041	2.633000	0.89246	0.591000	0.81541	ACG		TCGA-2J-AABU-01A-11D-A40W-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	1	25	77	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	25	76	0	26	2								-20.000000	1	1	120882	12	39	1	0	0	0	2.074030	0	0.520000	1.830000	0.517491	0.930000	6.400000e-01	1.000000	1.000000	0.905894	0.930000	1	7.800000e-01	1
KIF5C	3800	broad.mit.edu	37	2	149854968	149854968	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:149854968T>A	ENST00000435030.1	+	19	2523	c.2155T>A	c.(2155-2157)Tcc>Acc	p.S719T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T			O60282	KIF5C_HUMAN	kinesin family member 5C			36					GAAGCAGCTGTCCAGACTCCG	0.572000																								0							SO:0001583	missense			ENST00000435030.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	25.9	4.685940	0.88639	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.79845	-1.31;-1.31;-1.31	5.78	5.78	0.91487	.	0.126390	0.56097	D	0.000025	T	0.76147	0.3947	.	.	.	0.44918	D	0.997937	P	0.37233	0.588	B	0.38264	0.269	T	0.74478	-0.3652	8	.	.	.	.	16.1254	0.81392	0.0:0.0:0.0:1.0	.	719	O60282	KIF5C_HUMAN	T	719;624;622;487	ENSP00000393379:S719T;ENSP00000410115:S624T;ENSP00000380560:S487T	.	S	+	1	0	KIF5C	149563214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.204000	0.65180	2.195000	0.70347	0.528000	0.53228	TCC		TCGA-2J-AABU-01A-11D-A40W-08	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	0	0	0	5	22	0	8	0	4.827586e-02	0	2	0	8	2		0	0	0	0	0	2	1	0.938005	5	21	0	8	2								-12.143630	1	1	0	0		1	0	0	0	2.074030	0	0.520000	1.830000	0.517491	0.730000	3.000000e-01	1.000000	1.000000	0.730651	0.730000	0	4.800000e-01	1
NRXN1	9378	broad.mit.edu	37	2	50765572	50765572	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:50765572T>G	ENST00000406316.2	-	10	3438	c.1962A>C	c.(1960-1962)aaA>aaC	p.K654N	NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N|NRXN1_ENST00000404971.1_Missense_Mutation_p.K694N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1			58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		GCCGGATATCTTTGCTTTGGC	0.498000																								0							SO:0001583	missense			ENST00000406316.2	1	1	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381063	0.61845	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.66939	2.045	0.36502	D	0.869045	D;D;P	0.61697	0.99;0.967;0.729	P;P;B	0.62885	0.908;0.592;0.334	D	0.87073	0.2161	10	0.66056	D	0.02	.	10.8231	0.46617	0.0:0.074:0.0:0.926	.	694;654;646	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	694;654;646;654;695;646;654	ENSP00000385142:K694N;ENSP00000384311:K654N;ENSP00000434015:K646N;ENSP00000385017:K654N;ENSP00000385434:K646N;ENSP00000385681:K654N	ENSP00000385017:K654N	K	-	3	2	NRXN1	50619076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.983000	0.38602	0.477000	0.44152	AAA		TCGA-2J-AABU-01A-11D-A40W-08	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1	292	1043	0	330		0	0	0	0	330	2		0	0	0	0	0	2	1	1.000000	292	1034	0	326	2								-20.000000	1	1	0	0		1	1	2	3	2.642762	1	0.520000	1.830000	0.619048	0.990000	9.400000e-01	1.000000	1.000000	0.996294	0.990000	1	9.900000e-01	1
KIAA1841	84542	broad.mit.edu	37	2	61304193	61304193	+	Silent	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:61304193G>T	ENST00000402291.1	+	6	811	c.570G>T	c.(568-570)gtG>gtT	p.V190V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841			25			Epithelial(17;0.193)		GGGAAGAGGTGGACATTTCAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000402291.1	1	1	hg19	CCDS46296.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	0	23	656	0	144	0	3.755475e-03	0	3	0	144	2		0	0	0	0	0	2	1	0.999999	23	644	0	144	2								-2.989408	1	1	0	0		1	1	2	3	2.642762	1	0.520000	1.830000	0.619048	0.160000	9.000000e-02	0.240000	0.160000	0.170628	0.160000	0	1.200000e-01	2.100000e-01
LRRTM4	80059	broad.mit.edu	37	2	77745555	77745555	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:77745555A>G	ENST00000409093.1	-	3	1776	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409088.3_Silent_p.P480P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4			64					ACTCCTGTAAAGGGGAATTCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000409093.1	1	1	hg19	CCDS46346.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	1	0	1	27	101	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	27	101	0	39	2								-18.740340	1	0	0	0		1	0	0	0	2.095781	0	0.520000	1.830000	0.520000	0.810000	5.600000e-01	1.000000	1.000000	0.814960	0.810000	0	6.700000e-01	9.500000e-01
NFKB1	4790	broad.mit.edu	37	4	103517377	103517377	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:103517377A>G	ENST00000505458.1	+	14	1657	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	NFKB1_ENST00000226574.4_Silent_p.K461K|NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000394820.4_Silent_p.K460K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1			27		Hepatocellular(203;0.217)		Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTTTGGGAAAGTTATTGAAA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000505458.1	1	1	hg19	CCDS54783.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1	1	0	1	59	226	0	68	1	9.959273e-01	12	23	0	68	2		0	0	0	0	0	2	1	1.000000	58	223	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.117417	0	0.520000	1.830000	0.522483	0.790000	6.200000e-01	1.000000	0.800000	0.806740	0.790000	0	7.000000e-01	9.000000e-01
SLIT2	9353	broad.mit.edu	37	4	20618553	20618553	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:20618553G>A	ENST00000504154.1	+	35	4120	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)			116					GAAGAGTAACGTGGCATCTCT	0.562000																								0							SO:0001583	missense			ENST00000504154.1	1	1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062304	0.55432	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.96	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.919326	0.09535	N	0.788994	T	0.60702	0.2289	N	0.25890	0.77	0.28499	N	0.914096	P;P	0.41673	0.759;0.678	B;B	0.35413	0.197;0.202	T	0.55418	-0.8144	10	0.45353	T	0.12	.	10.0633	0.42288	0.2:0.0:0.8:0.0	.	1282;1290	O94813-3;O94813	.;SLIT2_HUMAN	M	1282;1290;1303;1286;1286	ENSP00000427548:V1282M;ENSP00000422591:V1290M;ENSP00000273739:V1303M;ENSP00000422261:V1286M	ENSP00000273739:V1303M	V	+	1	0	SLIT2	20227651	0.979000	0.34478	0.997000	0.53966	0.989000	0.77384	1.895000	0.39778	2.833000	0.97629	0.650000	0.86243	GTG		TCGA-2J-AABU-01A-11D-A40W-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	55	171	0	41	0	6.113537e-02	0	2	0	41	2		0	0	0	0	0	2	1	1.000000	55	167	0	40	2								-20.000000	1	1	121408	14	39	1	1	2	3	2.117417	0	0.520000	1.830000	0.522483	0.930000	7.300000e-01	1.000000	1.000000	0.924107	0.930000	1	8.300000e-01	1
TLR6	10333	broad.mit.edu	37	4	38830535	38830535	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:38830535T>A	ENST00000381950.1	-	1	625	c.560A>T	c.(559-561)gAg>gTg	p.E187V	TLR6_ENST00000436693.2_Missense_Mutation_p.E187V			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6			22					ACTTTCTGTCTCATTTTCTTT	0.318000																								0							SO:0001583	missense			ENST00000381950.1	0	1	hg19	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	6.087	0.384310	0.11524	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.02301	4.35;4.35	5.44	1.66	0.24008	.	0.426300	0.23090	N	0.052057	T	0.03564	0.0102	M	0.77103	2.36	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33523	-0.9865	10	0.87932	D	0	.	4.5985	0.12341	0.1363:0.2183:0.0:0.6454	.	187	Q9Y2C9	TLR6_HUMAN	V	187	ENSP00000389600:E187V;ENSP00000371376:E187V	ENSP00000371376:E187V	E	-	2	0	TLR6	38506930	0.005000	0.15991	0.001000	0.08648	0.507000	0.33981	0.664000	0.25068	0.350000	0.24002	0.260000	0.18958	GAG		TCGA-2J-AABU-01A-11D-A40W-08	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	0	0	0	4	166	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.891327	4	166	0	36	2								-3.454353	1	1	0	0		1	1	2	3	2.117417	0	0.520000	1.830000	0.522483	0.100000	2.000000e-02	0.240000	0.090000	0.120477	0.100000	0	5.000000e-02	1.600000e-01
ARHGAP24	83478	broad.mit.edu	37	4	86898803	86898803	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:86898803T>C	ENST00000395184.1	+	8	1353	c.887T>C	c.(886-888)aTc>aCc	p.I296T	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24			24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			GGTCCTAATATCCTGCGCCCC	0.398000																								0							SO:0001583	missense			ENST00000395184.1	1	1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852845	0.91355	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.95	5.95	0.96441	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.986;0.999	D	0.85343	0.1097	10	0.87932	D	0	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	201;203;296	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	T	296;201;211;203	ENSP00000378611:I296T;ENSP00000378610:I201T;ENSP00000425589:I211T;ENSP00000264343:I203T	ENSP00000264343:I203T	I	+	2	0	ARHGAP24	87117827	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATC		TCGA-2J-AABU-01A-11D-A40W-08	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1	57	213	0	78	0	2.024875e-01	0	4	0	78	2		0	0	0	0	0	2	1	1.000000	56	211	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.117417	0	0.520000	1.830000	0.522483	0.810000	6.300000e-01	1.000000	0.820000	0.821867	0.810000	0	7.200000e-01	9.200000e-01
DNAH5	1767	broad.mit.edu	37	5	13871060	13871060	+	Missense_Mutation	SNP	A	A	G	rs112124692	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:13871060A>G	ENST00000265104.4	-	24	3754	c.3650T>C	c.(3649-3651)aTt>aCt	p.I1217T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				GTGGCGTCCAATGACAACCAT	0.383000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	0	hg19	CCDS3882.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	A	9.269	1.045083	0.19748	0.004085	0.0	ENSG00000039139	ENST00000265104	T	0.23754	1.89	5.84	4.68	0.58851	.	0.318110	0.33515	N	0.004838	T	0.19805	0.0476	L	0.52573	1.65	0.09310	N	1	B	0.22480	0.07	B	0.27262	0.078	T	0.19549	-1.0302	10	0.72032	D	0.01	.	12.0386	0.53440	0.9326:0.0:0.0673:0.0	.	1217	Q8TE73	DYH5_HUMAN	T	1217	ENSP00000265104:I1217T	ENSP00000265104:I1217T	I	-	2	0	DNAH5	13924060	0.977000	0.34250	0.015000	0.15790	0.394000	0.30568	4.224000	0.58593	1.029000	0.39812	0.533000	0.62120	ATT		TCGA-2J-AABU-01A-11D-A40W-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1	92	331	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	92	326	0	77	2								-3.049893	1	1	121406	64	51	1	1	2	3	2.602165	1	0.520000	1.830000	0.619048	0.990000	8.600000e-01	1.000000	1.000000	0.984044	0.990000	1	9.500000e-01	1
TMED9	54732	broad.mit.edu	37	5	177022351	177022351	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9			10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CCCTCATCCTCGTGGCCATCG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000332598.6	1	1	hg19	CCDS4428.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	1	0	1	93	364	0	77	1	1	113	448	0	77	2		0	0	0	0	0	2	1	1.000000	92	360	0	77	2								-3.356083	1	1	121412	1	38	1	1	2	3	2.639433	1	0.520000	1.830000	0.619048	0.980000	8.100000e-01	1.000000	1.000000	0.958680	0.980000	1	8.900000e-01	1
MLLT4	4301	broad.mit.edu	37	6	168315909	168315909	+	Silent	SNP	C	C	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:168315909C>A	ENST00000447894.2	+	18	2340	c.2340C>A	c.(2338-2340)gcC>gcA	p.A780A	MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000400822.3_Silent_p.A779A|MLLT4_ENST00000366806.2_Silent_p.A780A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4			65		Breast(66;1.07e-05)|Ovarian(120;0.024)			GAGTCAATGCCGCCCTGACCA	0.537000			T	MLL	AL										Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0							SO:0001819	synonymous_variant			ENST00000447894.2	0	1	hg19																																																																																					TCGA-2J-AABU-01A-11D-A40W-08	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	0	0	4	223	0	75	0	8.937650e-02	0	22	0	75	2		0	0	0	0	0	2	1	0.888002	4	220	0	73	2								-3.149900	1	1	0	0		1	0	1	1	1.572129	1	0.520000	1.830000	0.351351	0.050000	1.000000e-02	0.120000	0.050000	0.061628	0.050000	0	2.000000e-02	9.000000e-02
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:6225029A>G	ENST00000264870.3	-	7	1128	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide			62	Ovarian(93;0.0816)	all_hematologic(90;0.152)		L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507000																								0							SO:0001583	missense			ENST00000264870.3	1	1	hg19	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.832090|2.832090	0.50845|0.50845	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96041	.|-3.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.93390|0.93390	0.7892|0.7892	M|M	0.62209|0.62209	1.925|1.925	0.20489|0.20489	N|N	0.999891|0.999891	.|P;P	.|0.43788	.|0.66;0.817	.|B;P	.|0.47015	.|0.23;0.534	D|D	0.89821|0.89821	0.3989|0.3989	5|10	.|0.52906	.|T	.|0.07	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	P|A	5|288;225	.|ENSP00000264870:V288A	.|ENSP00000264870:V288A	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		TCGA-2J-AABU-01A-11D-A40W-08	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	1	0	1	104	244	0	105	0	8.957314e-02	0	2	0	105	2		0	0	0	0	0	2	1	1.000000	103	243	0	103	2								-20.000000	1	1	0	0		1	0	1	1	1.537670	1	0.520000	1.830000	0.351351	0.840000	7.100000e-01	0.970000	0.850000	0.846323	0.840000	0	7.700000e-01	9.100000e-01
SLC35B3	51000	broad.mit.edu	37	6	8430252	8430252	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:8430252C>T	ENST00000379660.4	-	3	591	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M|SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3			15	Ovarian(93;0.0569)				TTGGATGGCACAGTGATAGAA	0.378000													Melanoma(83;700 1353 9357 11478 30548)											0							SO:0001583	missense			ENST00000379660.4	1	1	hg19	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537066	0.45176	.	.	ENSG00000124786	ENST00000379660;ENST00000339306;ENST00000426876	T;T	0.54071	1.23;0.59	5.88	4.09	0.47781	.	0.219196	0.48286	N	0.000187	T	0.23572	0.0570	L	0.32530	0.975	0.45946	D	0.998777	P;B;B	0.51351	0.944;0.022;0.039	B;B;B	0.40825	0.341;0.014;0.014	T	0.03503	-1.1030	9	.	.	.	-9.0483	9.1897	0.37191	0.0:0.7267:0.0:0.2733	.	48;48;48	B4E2F5;Q9H1N7;B2R8V5	.;S35B3_HUMAN;.	M	48;48;114	ENSP00000368981:V48M;ENSP00000345902:V48M	.	V	-	1	0	SLC35B3	8375251	0.999000	0.42202	0.964000	0.40570	0.978000	0.69477	1.891000	0.39738	1.503000	0.48686	0.637000	0.83480	GTG		TCGA-2J-AABU-01A-11D-A40W-08	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	1	0	1	89	166	0	136	1	9.885574e-01	8	8	0	136	2		0	0	0	0	0	2	1	1.000000	88	166	0	134	2								-20.000000	1	1	121412	1	37	1	0	1	1	1.537670	1	0.520000	1.830000	0.351351	0.930000	8.000000e-01	1.000000	0.990000	0.931929	0.930000	1	8.700000e-01	9.800000e-01
IQCE	23288	broad.mit.edu	37	7	2617923	2617923	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:2617923C>T	ENST00000402050.2	+	7	697	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000325979.7_Silent_p.L106L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E			30		Ovarian(82;0.0112)			GAACGAAGCTCCGGCGCCTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000402050.2	1	1	hg19	CCDS43542.1																																																																																				TCGA-2J-AABU-01A-11D-A40W-08	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	1	0	1	65	203	0	54	1	7.854974e-01	2	9	0	54	2		0	0	0	0	0	2	1	1.000000	64	198	0	54	2								-4.719676	1	1	0	0		1	1	2	3	2.101156	0	0.520000	1.830000	0.521245	0.930000	7.400000e-01	1.000000	1.000000	0.922025	0.930000	1	8.300000e-01	1
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	p.A5T(1)		58					ACGATGTCCGCGGGTGGCGGC	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000310758.4	1	1	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		TCGA-2J-AABU-01A-11D-A40W-08	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1	153	414	0	149	0	7.359788e-02	0	2	0	149	2		0	0	0	0	0	2	1	1.000000	151	407	0	148	2								-20.000000	1	1	121408	5	42	1	1	2	3	2.101156	0	0.520000	1.830000	0.521245	0.990000	8.900000e-01	1.000000	1.000000	0.987705	0.990000	1	9.600000e-01	1
PMS2	5395	broad.mit.edu	37	7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			AGTTAGGTCGGCAAACTCTTG	0.403000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	0	1	hg19	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760290	0.49468	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.74421	-0.84;-0.84;-0.84	5.68	4.8	0.61643	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.181750	0.48767	D	0.000165	T	0.68467	0.3004	L	0.45698	1.435	0.80722	D	1	B;P;P	0.49447	0.025;0.924;0.493	B;B;B	0.40677	0.003;0.337;0.12	T	0.67229	-0.5723	10	0.27082	T	0.32	-5.7265	16.7528	0.85490	0.0:0.1292:0.8708:0.0	.	96;96;96	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	96;49;96;96	ENSP00000265849:A96V;ENSP00000371758:A96V;ENSP00000384308:A96V	ENSP00000265849:A96V	A	-	2	0	PMS2	6009913	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.309000	0.72825	1.383000	0.46405	0.484000	0.47621	GCC		TCGA-2J-AABU-01A-11D-A40W-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	0	0	5	257	0	74	0	1.764918e-03	0	3	0	74	2	0	8.743420e-01	0	518	1	498	6	1	0.934263	5	251	0	74	2								-2.536141	1	1	0	0		1	1	2	3	2.101156	0	0.520000	1.830000	0.521245	0.070000	2.000000e-02	0.170000	0.080000	0.087338	0.070000	0	4.000000e-02	1.200000e-01
PXDNL	137902	broad.mit.edu	37	8	52321490	52321490	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:52321490G>A	ENST00000356297.4	-	17	2794	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	PXDNL_ENST00000543296.1_Silent_p.N898N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			TCCCGTAAACGTTGGAGCCAT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000356297.4	1	1	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159576	0.01686	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.01	-2.84	0.05751	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.51482	D	0.999926	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	4.4763	0.11745	0.6029:0.0:0.2268:0.1703	.	.	.	.	M	17	.	.	T	-	2	0	PXDNL	52484043	0.178000	0.23122	0.000000	0.03702	0.005000	0.04900	-0.180000	0.09754	-0.477000	0.06832	0.655000	0.94253	ACG		TCGA-2J-AABU-01A-11D-A40W-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1	74	197	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	72	197	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.108206	0	0.520000	1.830000	0.521245	0.990000	8.500000e-01	1.000000	1.000000	0.981007	0.990000	1	9.400000e-01	1
DENND4C	55667	broad.mit.edu	37	9	19305370	19305370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:19305370G>A	ENST00000380432.2	+	6	657	c.624G>A	c.(622-624)tgG>tgA	p.W208*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C			40					CATTTCAGTGGCAATGCCCAT	0.328000																								0							SO:0001587	stop_gained			ENST00000380432.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.966709	0.97156	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5753	17.8373	0.88701	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000369802:W208X	W	+	3	0	DENND4C	19295370	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	TGG		TCGA-2J-AABU-01A-11D-A40W-08	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	408	0	169	0	2.432808e-04	0	2	0	169	2		0	0	0	0	0	2	1	0.937102	5	406	0	168	2								-2.282842	0	1	0	0		1	0	1	1	1.541911	1	0.520000	1.830000	0.351351	0.030000	0	0.080000	0.040000	0.040957	0.030000	0	1.000000e-02	6.000000e-02
PIGO	84720	broad.mit.edu	37	9	35090660	35090660	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35090660G>A	ENST00000378617.3	-	8	3051	c.2657C>T	c.(2656-2658)aCt>aTt	p.T886I	PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O			38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		CCATGGCACAGTAAAAGGACC	0.502000																								0							SO:0001583	missense			ENST00000378617.3	0	1	hg19	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931790	0.34096	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.5;0.49;0.49;0.5	5.18	4.29	0.51040	.	0.358601	0.29205	N	0.012826	T	0.34337	0.0894	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.16802	0.019;0.005	B;B	0.17433	0.018;0.005	T	0.14559	-1.0468	10	0.22109	T	0.4	-16.9499	12.8394	0.57793	0.078:0.0:0.922:0.0	.	469;886	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	469;886;886;469	ENSP00000298004:T469I;ENSP00000367880:T886I;ENSP00000339382:T886I;ENSP00000354678:T469I	ENSP00000298004:T469I	T	-	2	0	PIGO	35080660	0.683000	0.27633	1.000000	0.80357	0.995000	0.86356	0.434000	0.21494	1.424000	0.47217	0.655000	0.94253	ACT		TCGA-2J-AABU-01A-11D-A40W-08	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	0	0	0	8	912	0	40	0	8.297407e-01	0	370	0	40	2		0	0	0	0	0	2	1	0.984299	7	827	0	36	2								-4.927041	1	1	0	0		1	1	15	16	10.043740	1	0.520000	1.830000	0.896552	0.150000	3.000000e-02	0.310000	0.160000	0.169784	0.150000	0	8.000000e-02	2.400000e-01