Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CDH13	1012	broad.mit.edu	37	16	83636094	83636094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:83636094G>C	ENST00000566620.1	+	8	1286	c.996G>C	c.(994-996)gaG>gaC	p.E332D	CDH13_ENST00000268613.10_Missense_Mutation_p.E379D|CDH13_ENST00000428848.3_Missense_Mutation_p.E293D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	332	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGATCATCGAGGCTCAAGATA	0.418000													55	102					0	0	0.014410	0	0
ITPR3	3710	broad.mit.edu	37	6	33639056	33639056	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:33639056A>T	ENST00000374316.5	+	22	3761	c.2701A>T	c.(2701-2703)Atg>Ttg	p.M901L	ITPR3_ENST00000605930.1_Missense_Mutation_p.M901L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	901					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCCCCCGGCCATGCTGCAGGC	0.632000													17	19					0	0	0.007413	0	0
PLEK	5341	broad.mit.edu	37	2	68607901	68607901	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:68607901A>G	ENST00000234313.7	+	3	424	c.245A>G	c.(244-246)cAg>cGg	p.Q82R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	82	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CACTTCTTCCAGGCAGCCTTC	0.468000													41	58					0	0	0.011902	0	0
UTRN	7402	broad.mit.edu	37	6	144794859	144794859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:144794859G>A	ENST00000367545.3	+	23	3070	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1024					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGATTAGGCCGATTCAACAGT	0.458000													26	32					0	0	0.005443	0	0
GAREM	64762	broad.mit.edu	37	18	29867460	29867460	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:29867460T>A	ENST00000399218.4	-	4	1155	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	GAREM_ENST00000269209.6_Missense_Mutation_p.H367L|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		ATTGGGCACGTGGTTGTGGCC	0.552000													31	42					0	0	0.003271	0	0
SUPT5H	6829	broad.mit.edu	37	19	39950550	39950550	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:39950550A>T	ENST00000599117.1	+	11	941	c.574A>T	c.(574-576)Acg>Tcg	p.T192S	SUPT5H_ENST00000359191.6_Missense_Mutation_p.T188S|SUPT5H_ENST00000402194.2_Missense_Mutation_p.T188S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.T192S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.T192S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	192	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAACGGGCCACGGCCATTTC	0.547000													26	53					0	0	0.005443	0	0
FILIP1	27145	broad.mit.edu	37	6	76023470	76023470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:76023470G>T	ENST00000393004.2	-	5	2299	c.2078C>A	c.(2077-2079)gCa>gAa	p.A693E	FILIP1_ENST00000370020.1_Missense_Mutation_p.A594E|FILIP1_ENST00000237172.7_Missense_Mutation_p.A693E|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	693										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTCTCTATTGCTTTATTCTT	0.428000													75	131					3.82274e-22	4.66816e-22	0.014410	1	0
ABCB5	340273	broad.mit.edu	37	7	20744417	20744417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:20744417C>G	ENST00000404938.2	+	20	3060	c.2408C>G	c.(2407-2409)gCa>gGa	p.A803G	ABCB5_ENST00000258738.6_Missense_Mutation_p.A358G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	358	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGATATAGCACAAATTCAA	0.363000													17	28					0	0	0.007413	0	0
PRKG2	5593	broad.mit.edu	37	4	82126123	82126123	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:82126123G>A	ENST00000395578.1	-	2	195	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	PRKG2_ENST00000418486.2_Missense_Mutation_p.R27W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R27W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	27					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.R27W(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTGTTCCGCAGAGCATCA	0.527000													11	11					0	0	0.010729	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488759	20488759	+	RNA	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr15:20488759T>C	ENST00000555186.1	+	0	242					NR_038836.1																						ATTACTGATTTTGGGCACTCC	0.403000													25	291					0	0	0.003954	0	0
PKHD1	5314	broad.mit.edu	37	6	51497481	51497481	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497481C>T	ENST00000371117.3	-	65	11822	c.11547G>A	c.(11545-11547)ttG>ttA	p.L3849L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3849					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGTCACAGGCAAGACAGCAA	0.463000													4	5					0	0	0.009096	0	0
TMC2	117532	broad.mit.edu	37	20	2542536	2542536	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:2542536G>T	ENST00000358864.1	+	4	449	c.434G>T	c.(433-435)gGg>gTg	p.G145V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	145	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCCTCTGGTGGGGAGTCCCTG	0.617000													43	55					1.7489e-18	2.05658e-18	0.011902	1	0
SLC44A4	80736	broad.mit.edu	37	6	31842752	31842752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:31842752T>C	ENST00000544672.1	-	5	364	c.68A>G	c.(67-69)aAc>aGc	p.N23S	SLC44A4_ENST00000229729.6_Missense_Mutation_p.N99S|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N99S|SLC44A4_ENST00000465707.1_5'UTR	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	99						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TGAGATGATGTTGCTGGACAG	0.577000													118	171					0	0	0.014410	0	0
AATK	9625	broad.mit.edu	37	17	79095182	79095182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:79095182C>T	ENST00000326724.4	-	11	2578	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	AATK_ENST00000417379.1_Missense_Mutation_p.E749K	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	852						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCTCCACCTCGGGAGAGCTG	0.667000													11	6					0	0	0.008291	0	0
LMCD1	29995	broad.mit.edu	37	3	8543629	8543629	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8543629C>A	ENST00000157600.3	+	1	237	c.5C>A	c.(4-6)gCa>gAa	p.A2E	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.A2E|LMCD1_ENST00000397386.3_5'UTR|LMCD1_ENST00000454244.1_5'UTR	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	2					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AAGAGGATGGCAAAGGTGGCT	0.572000													21	50					4.4004e-07	4.7765e-07	0.003330	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182439	57182439	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:57182439C>A	ENST00000504228.1	+	6	2876	c.2771C>A	c.(2770-2772)tCc>tAc	p.S924Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S924Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S917Y			Q6ZU35	K1211_HUMAN	KIAA1211	924										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTGAACCTTCCAGCAGCCGC	0.647000													23	21					1.22574e-08	1.35364e-08	0.014323	1	0
TTN	7273	broad.mit.edu	37	2	179612398	179612398	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179612398A>G	ENST00000360870.5	-	46	14951	c.14729T>C	c.(14728-14730)cTt>cCt	p.L4910P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1033	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCAGCAAGTAAATATTG	0.413000													9	22					0	0	0.006214	0	0
OR51D1	390038	broad.mit.edu	37	11	4661919	4661919	+	Missense_Mutation	SNP	A	A	C	rs141098080	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:4661919A>C	ENST00000357605.2	+	1	975	c.899A>C	c.(898-900)aAc>aCc	p.N300T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTAGTCAACCCCCTTGTC	0.532000													4	71					0	0	0.001168	0	0
FRMPD3	84443	broad.mit.edu	37	X	106776772	106776772	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:106776772A>G	ENST00000276185.4	+	5	388	c.388A>G	c.(388-390)Act>Gct	p.T130A	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	130	PDZ.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGTTCTGCACACTCATCAGGT	0.458000													4	87					0	0	0.001168	0	0
KANSL1L	151050	broad.mit.edu	37	2	210962866	210962866	+	Silent	SNP	T	T	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:210962866T>G	ENST00000281772.9	-	5	1757	c.1494A>C	c.(1492-1494)tcA>tcC	p.S498S	KANSL1L_ENST00000418791.1_Silent_p.S498S|KANSL1L_ENST00000452086.1_Silent_p.S498S|KANSL1L_ENST00000457374.1_Silent_p.S498S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	498																	AAGAGAGGGGTGATGAAGTTG	0.423000													4	17					0	0	0.004482	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:56478854G>T	ENST00000267101.3	+	3	750	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													94	135					3.60193e-44	4.52915e-44	0.014410	1	0
IRGC	56269	broad.mit.edu	37	19	44222905	44222905	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:44222905G>A	ENST00000244314.5	+	2	394	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	65						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A65A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGGGCGCGGGCAAGTCCT	0.701000													4	77					0	0	0.009096	0	0
TTC37	9652	broad.mit.edu	37	5	94858955	94858955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:94858955G>A	ENST00000358746.2	-	18	2006	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	570							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TATAGTCCTCGCCTAAGCCAG	0.393000													29	39					0	0	0.010818	0	0
TRPS1	7227	broad.mit.edu	37	8	116599372	116599372	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:116599372C>A	ENST00000395715.3	-	5	3133	c.2556G>T	c.(2554-2556)gcG>gcT	p.A852A	TRPS1_ENST00000220888.5_Silent_p.A839A|TRPS1_ENST00000520276.1_Silent_p.A843A|TRPS1_ENST00000519076.1_Silent_p.A593A|TRPS1_ENST00000519674.1_Silent_p.A839A	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	839					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAATAGGTCGCGCCAGATGGG	0.607000									Langer-Giedion syndrome				22	26					3.11337e-16	3.56215e-16	0.013726	1	0
TSC2	7249	broad.mit.edu	37	16	2121804	2121804	+	Nonsense_Mutation	SNP	G	G	T	rs137854104		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:2121804G>T	ENST00000219476.3	+	19	2596	c.1966G>T	c.(1966-1968)Gag>Tag	p.E656*	TSC2_ENST00000439673.2_Nonsense_Mutation_p.E619*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.E667*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E607*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.E656*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E656*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.E656*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	656					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGAGGCTCTGAGAAGAAGAC	0.667000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	12					0.000602214	0.000637344	0.000602	1	0
UTY	7404	broad.mit.edu	37	Y	15591422	15591422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrY:15591422C>A	ENST00000331397.4	-	1	1131	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	UTY_ENST00000382893.1_Nonsense_Mutation_p.E42*|UTY_ENST00000538878.1_Nonsense_Mutation_p.E42*|UTY_ENST00000540140.1_Nonsense_Mutation_p.E42*|UTY_ENST00000362096.4_Nonsense_Mutation_p.E42*|UTY_ENST00000329134.5_Nonsense_Mutation_p.E42*|UTY_ENST00000537580.1_Nonsense_Mutation_p.E42*|UTY_ENST00000545955.1_Nonsense_Mutation_p.E42*|UTY_ENST00000382896.4_Nonsense_Mutation_p.E42*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	42					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GCCTCCCTTTCCTCGACTGTC	0.607000													20	2					7.88262e-20	9.35601e-20	0.003330	1	0
TRHR	7201	broad.mit.edu	37	8	110100415	110100415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:110100415C>T	ENST00000518632.1	+	2	1025	c.674C>T	c.(673-675)tCa>tTa	p.S225L	TRHR_ENST00000311762.2_Missense_Mutation_p.S225L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	225						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCATTCCTTCAGATCCTAAA	0.368000													23	26					0	0	0.012319	0	0
C7orf25	79020	broad.mit.edu	37	7	42950479	42950479	+	Silent	SNP	G	G	A	rs113806989		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:42950479G>A	ENST00000350427.4	-	2	296	c.21C>T	c.(19-21)ctC>ctT	p.L7L	C7orf25_ENST00000447342.1_Silent_p.L7L|C7orf25_ENST00000438029.1_Silent_p.L7L|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Silent_p.L65L			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	7										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTCGTTCACAGAGCATGGAAT	0.423000													141	172					0	0	0.014410	0	0
CADPS	8618	broad.mit.edu	37	3	62739249	62739249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:62739249C>T	ENST00000383710.4	-	3	1104	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R252Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R252Q|CADPS_ENST00000490353.2_Missense_Mutation_p.R252Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	252					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGCTGCTTCCGCGGGTCCTC	0.567000													19	23					0	0	0.007413	0	0
PDGFRA	5156	broad.mit.edu	37	4	55130019	55130019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:55130019G>A	ENST00000257290.5	+	4	884	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	PDGFRA_ENST00000508170.1_Missense_Mutation_p.G185R|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	185	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.G185W(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTCACTGTAGGGCCCTATAT	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	29					0	0	0.002780	0	0
LPAR6	10161	broad.mit.edu	37	13	48986079	48986079	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:48986079C>G	ENST00000378434.4	-	7	2105	c.481G>C	c.(481-483)Ggt>Cgt	p.G161R	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.G161R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	161						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GCATTGTTACCCTGAGAGTGG	0.418000													5	5					0	0	0.000602	0	0
LMF2	91289	broad.mit.edu	37	22	50943119	50943119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr22:50943119C>G	ENST00000216080.5	-	11	1568	c.1400G>C	c.(1399-1401)cGg>cCg	p.R467P	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Missense_Mutation_p.R492P			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	492						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGGCGGCCGGCTCAGGTT	0.692000													21	29					0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9063340	9063340	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:9063340C>T	ENST00000397910.4	-	3	24309	c.24106G>A	c.(24106-24108)Gaa>Aaa	p.E8036K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8038	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTATTTCAACTGAGGTG	0.463000													25	49					0	0	0.005443	0	0
MYSM1	114803	broad.mit.edu	37	1	59156029	59156029	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:59156029A>T	ENST00000472487.1	-	4	318	c.279T>A	c.(277-279)gaT>gaA	p.D93E		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	93					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGTATTTTTTATCATCTTCCT	0.274000													36	36					0	0	0.004878	0	0
SCN5A	6331	broad.mit.edu	37	3	38639411	38639411	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38639411C>T	ENST00000413689.1	-	14	2264	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	SCN5A_ENST00000425664.1_Missense_Mutation_p.A691T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A691T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A691T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A691T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A691T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A691T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A691T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A691T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A691T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	691					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TAGCGCTGGGCGAGACGGTTC	0.532000													15	79					0	0	0.004990	0	0
EXOG	9941	broad.mit.edu	37	3	38565704	38565704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38565704C>T	ENST00000287675.5	+	6	1054	c.958C>T	c.(958-960)Cga>Tga	p.R320*	EXOG_ENST00000422077.2_Nonsense_Mutation_p.R270*|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	320						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.R320*(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGAAGGAGCCCGATCAGTGCT	0.423000													62	115					0	0	0.014410	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675636	54675636	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:54675636A>G	ENST00000546500.1	+	3	805	c.190A>G	c.(190-192)Act>Gct	p.T64A	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.T64A|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.T64A|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.T64A			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	64	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CACATATGCCACTGTGGAGGA	0.483000													50	49					0	0	0.014410	0	0
HRG	3273	broad.mit.edu	37	3	186394879	186394879	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:186394879C>A	ENST00000232003.4	+	7	865	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	262					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTGGGACATCCCTTCCACTGG	0.468000													34	44					2.52637e-11	2.81447e-11	0.005524	1	0
CEP164	22897	broad.mit.edu	37	11	117253629	117253629	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:117253629C>T	ENST00000278935.3	+	14	1842	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	565	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGTGGCGGTCAGCCCCACCC	0.622000													10	20					0	0	0.010729	0	0
KLRAP1	10748	broad.mit.edu	37	12	10748496	10748496	+	RNA	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:10748496C>T	ENST00000510134.2	-	0	315																				breast(1)|large_intestine(1)|lung(1)	3						AATTTCCTGCCGTTGATGTTT	0.259000													8	8					0	0	0.004482	0	0
DNAH11	8701	broad.mit.edu	37	7	21788260	21788260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:21788260G>A	ENST00000328843.6	+	53	8625	c.8594G>A	c.(8593-8595)gGc>gAc	p.G2865D	DNAH11_ENST00000409508.3_Missense_Mutation_p.G2858D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2865	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGTTGGGGGCAGTGGCAAG	0.557000									Kartagener syndrome				8	15					0	0	0.004482	0	0
IL7	3574	broad.mit.edu	37	8	79650798	79650798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:79650798C>G	ENST00000263851.4	-	4	901	c.301G>C	c.(301-303)Gat>Cat	p.D101H	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Intron|IL7_ENST00000520269.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	101					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						AAGTGGAGATCAAAATCACCA	0.353000													16	36					0	0	0.003163	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980429	23980429	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:23980429G>C	ENST00000238789.5	-	25	4280	c.3937C>G	c.(3937-3939)Cag>Gag	p.Q1313E	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1313							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTTGACTGGTCCTCCAGA	0.383000													25	34					0	0	0.003330	0	0
WDR11	55717	broad.mit.edu	37	10	122619733	122619733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:122619733G>C	ENST00000263461.6	+	4	711	c.465G>C	c.(463-465)aaG>aaC	p.K155N		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	155						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TATGGAAGAAGAGCTATGCAG	0.418000													29	36					0	0	0.007291	0	0
THOC2	57187	broad.mit.edu	37	X	122753270	122753270	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:122753270G>C	ENST00000245838.8	-	33	4324	c.4293C>G	c.(4291-4293)ctC>ctG	p.L1431L	THOC2_ENST00000355725.4_Silent_p.L1431L|THOC2_ENST00000491737.1_Silent_p.L1316L|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1431	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGATTCCTTGAGTTCGATGA	0.393000													5	1					0	0	0.001168	0	0
TPO	7173	broad.mit.edu	37	2	1500391	1500391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:1500391G>A	ENST00000345913.4	+	13	2331	c.2240G>A	c.(2239-2241)aGc>aAc	p.S747N	TPO_ENST00000382201.3_Missense_Mutation_p.S690N|TPO_ENST00000346956.3_Missense_Mutation_p.S747N|TPO_ENST00000337415.3_Missense_Mutation_p.S747N|TPO_ENST00000382198.1_Missense_Mutation_p.S574N|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S747N|TPO_ENST00000349624.3_Missense_Mutation_p.S574N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	747	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCCAGAGAGCGTGGAGAAT	0.557000													6	102					0	0	0.001168	0	0
KRT84	3890	broad.mit.edu	37	12	52777464	52777464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:52777464C>T	ENST00000257951.3	-	2	731	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	222	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACTGCCTCCGCAGGTTGGT	0.542000													66	75					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237947439	237947439	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:237947439A>G	ENST00000366574.2	+	90	12744	c.12427A>G	c.(12427-12429)Aaa>Gaa	p.K4143E	RYR2_ENST00000360064.6_Missense_Mutation_p.K4149E|RYR2_ENST00000542537.1_Missense_Mutation_p.K4127E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4143					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGAAGCGCCAAACGCATCGA	0.502000													18	24					0	0	0.006122	0	0
CACNA1D	776	broad.mit.edu	37	3	53837556	53837556	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53837556A>G	ENST00000288139.4	+	45	5720	c.5602A>G	c.(5602-5604)Agt>Ggt	p.S1868G	CACNA1D_ENST00000544977.1_Missense_Mutation_p.S227G|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1848G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1824G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTATTTCAGTAGTGAGGAATG	0.602000													123	125					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23897051	23897051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr14:23897051G>A	ENST00000355349.3	-	16	1793	c.1631C>T	c.(1630-1632)aCc>aTc	p.T544I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	544	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGTCATGTCGGTGGCCTTGGG	0.552000													40	67					0	0	0.006230	0	0
BCHE	590	broad.mit.edu	37	3	165548632	165548632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:165548632G>T	ENST00000264381.3	-	2	356	c.190C>A	c.(190-192)Cca>Aca	p.P64T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	64					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCAAGAGGTGGCTGTGCATAG	0.418000													8	9					0.00307968	0.0032059	0.003080	1	0
CARD14	79092	broad.mit.edu	37	17	78166305	78166305	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:78166305A>G	ENST00000573882.1	+	11	1779	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.K178E|CARD14_ENST00000344227.2_Missense_Mutation_p.K415E|CARD14_ENST00000570421.1_Missense_Mutation_p.K415E			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	415					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTGGCAGCTCAAGCAGGAAGC	0.607000													31	59					0	0	0.006999	0	0
XPO6	23214	broad.mit.edu	37	16	28112860	28112860	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:28112860G>A	ENST00000304658.5	-	23	3695	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	XPO6_ENST00000565698.1_Silent_p.F1051F	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1065					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACTCTGGGAGGAAGGCGGCAA	0.542000													34	51					0	0	0.013726	0	0
RAD18	56852	broad.mit.edu	37	3	8988964	8988964	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8988964T>C	ENST00000264926.2	-	4	322	c.206A>G	c.(205-207)gAg>gGg	p.E69G	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	69					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAGATCCGGCTCTGTGACAGT	0.343000								Rad6 pathway					44	68					0	0	0.009718	0	0
ADRA1A	148	broad.mit.edu	37	8	26721924	26721924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26721924G>A	ENST00000380573.3	-	2	1586	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ADRA1A_ENST00000380586.1_Missense_Mutation_p.S188L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.S188L|ADRA1A_ENST00000519229.1_Missense_Mutation_p.S188L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.S188L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S188L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.S188L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S188L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.S188L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.S188L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	188					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GCCCAGCGCTGAGAAGAGCAC	0.637000													16	23					0	0	0.006122	0	0
HOXA2	3199	broad.mit.edu	37	7	27140478	27140478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:27140478C>T	ENST00000222718.5	-	2	1308	c.998G>A	c.(997-999)tGc>tAc	p.C333Y		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	333						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGCTGCAGGCAGGAATCTGT	0.502000													102	106					0	0	0.014410	0	0
FAM53A	152877	broad.mit.edu	37	4	1656882	1656882	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:1656882G>A	ENST00000308132.6	-	4	897	c.705C>T	c.(703-705)ccC>ccT	p.P235P	FAM53A_ENST00000461064.1_Silent_p.P235P|FAM53A_ENST00000489363.1_Silent_p.P235P|FAM53A_ENST00000472884.2_Silent_p.P235P	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	235						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCCAGGGCAGGGGAGTGCCCG	0.741000													9	0					0	0	0.013537	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685711	121685711	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:121685711A>T	ENST00000369075.3	+	13	2357	c.2285A>T	c.(2284-2286)tAt>tTt	p.Y762F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Y551F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	762					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGTGAATTATGAATCTTTT	0.443000													31	37					0	0	0.012213	0	0
PKHD1	5314	broad.mit.edu	37	6	51497483	51497483	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497483A>G	ENST00000371117.3	-	65	11820	c.11545T>C	c.(11545-11547)Ttg>Ctg	p.L3849L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3849					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCACAGGCAAGACAGCAAAT	0.463000													4	5					0	0	0.009096	0	0
NETO2	81831	broad.mit.edu	37	16	47163140	47163140	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:47163140A>G	ENST00000562435.1	-	3	611	c.227T>C	c.(226-228)tTg>tCg	p.L76S	NETO2_ENST00000303155.5_Missense_Mutation_p.L76S	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	76	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AATACCTTCCAAAATGTAGAT	0.348000										HNSCC(25;0.065)			44	60					0	0	0.013114	0	0
EHD4	30844	broad.mit.edu	37	15	42211817	42211817	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr15:42211817T>C	ENST00000220325.4	-	4	598	c.515A>G	c.(514-516)tAt>tGt	p.Y172C		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	172					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCAGAAGTCATAGCCTGGGTG	0.562000													20	22					0	0	0.014323	0	0
DCAF15	90379	broad.mit.edu	37	19	14070852	14070852	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14070852C>T	ENST00000254337.6	+	10	1518	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	499										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTGGCCTTCCCGTCCCCCA	0.657000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	25					0	0	0.004656	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421844	62421844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:62421844G>C	ENST00000245663.4	-	2	417	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZBTB46_ENST00000395104.1_Missense_Mutation_p.F89L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.F89L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGAGTACATGAAGTCGATGA	0.612000													19	37					0	0	0.007413	0	0
KDM6A	7403	broad.mit.edu	37	X	44913157	44913157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:44913157G>T	ENST00000377967.4	+	10	873	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E278*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E278*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E278*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	278					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGTCCTTGGAAGCAGATCC	0.408000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								53	9					7.47603e-22	9.04243e-22	0.014410	1	0
DGKB	1607	broad.mit.edu	37	7	14775768	14775768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:14775768C>T	ENST00000403951.2	-	5	639	c.220G>A	c.(220-222)Gag>Aag	p.E74K	DGKB_ENST00000258767.5_Missense_Mutation_p.E74K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.E74K|DGKB_ENST00000399322.3_Missense_Mutation_p.E74K|DGKB_ENST00000407950.1_Missense_Mutation_p.E67K|DGKB_ENST00000444700.2_Missense_Mutation_p.E67K|DGKB_ENST00000402815.1_Missense_Mutation_p.E74K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	74					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCAGGAAGCTCGGCTTCCAGG	0.358000													13	14					0	0	0.002450	0	0
PNMA2	10687	broad.mit.edu	37	8	26365183	26365183	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26365183G>A	ENST00000522362.2	-	3	1983	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	363					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		GTTTTCAGTCGTCTCCCTCAT	0.473000													74	87					0	0	0.014410	0	0
KIRREL	55243	broad.mit.edu	37	1	158064739	158064739	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:158064739C>T	ENST00000368172.1	+	11	1557	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	KIRREL_ENST00000416935.2_Silent_p.Y601Y|KIRREL_ENST00000360089.4_Silent_p.Y537Y|KIRREL_ENST00000368173.3_Silent_p.Y717Y|KIRREL_ENST00000359209.6_Silent_p.Y701Y|KIRREL_ENST00000392272.2_Silent_p.Y598Y			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	701						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGCTGGGTACCCCACCTACC	0.632000													16	28					0	0	0.006122	0	0
BCL9	607	broad.mit.edu	37	1	147092477	147092477	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:147092477G>T	ENST00000234739.3	+	8	3256	c.2516G>T	c.(2515-2517)cGc>cTc	p.R839L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	839	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGTTCAGCGCGGCCTGGGG	0.592000			T	"""IGH@, IGL@"""	B-ALL								27	54					2.47316e-13	2.80438e-13	0.003271	1	0
FBLN7	129804	broad.mit.edu	37	2	112944789	112944789	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:112944789C>A	ENST00000331203.2	+	8	1297	c.1026C>A	c.(1024-1026)ctC>ctA	p.L342L	FBLN7_ENST00000409450.3_Silent_p.L296L|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.L208L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	342					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATTACCTCTCTCTGCCTT	0.642000													48	71					7.05377e-20	8.45121e-20	0.014410	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770348	31770348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:31770348C>A	ENST00000240587.4	-	2	678	c.351G>T	c.(349-351)caG>caT	p.Q117H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	117					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGGCCTTCATCTGCTCCAGGC	0.552000													42	50					1.00001e-27	1.24511e-27	0.009718	1	0
SF3B3	23450	broad.mit.edu	37	16	70594445	70594445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:70594445G>A	ENST00000302516.5	+	16	2295	c.2084G>A	c.(2083-2085)gGg>gAg	p.G695E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	695					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CGGTACCTGGGGTCCCGTCCT	0.532000													47	49					0	0	0.014410	0	0
RBM15	64783	broad.mit.edu	37	1	110882341	110882341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:110882341G>A	ENST00000369784.3	+	1	1214	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RBM15_ENST00000602849.1_Missense_Mutation_p.S105N|RBM15_ENST00000487146.2_Missense_Mutation_p.S105N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	105	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGTCCAGCAGTCGAGGTGGC	0.622000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	0.004672	0	0
MORC1	27136	broad.mit.edu	37	3	108819338	108819338	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:108819338G>C	ENST00000232603.5	-	5	322	c.240C>G	c.(238-240)atC>atG	p.I80M	MORC1_ENST00000483760.1_Missense_Mutation_p.I80M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	80					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGTAAATGATGTCTGAAG	0.433000													29	50					0	0	0.008361	0	0
LAMA1	284217	broad.mit.edu	37	18	6961676	6961676	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:6961676A>C	ENST00000389658.3	-	53	7628	c.7535T>G	c.(7534-7536)gTa>gGa	p.V2512G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2512	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAAATGTTACCAGCCATTC	0.552000													4	20					0	0	0.006214	0	0
TNXB	7148	broad.mit.edu	37	6	32024427	32024427	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:32024427C>T	ENST00000375244.3	-	23	8280	c.8079G>A	c.(8077-8079)aaG>aaA	p.K2693K	TNXB_ENST00000375247.2_Silent_p.K2693K			P22105	TENX_HUMAN	tenascin XB	2753	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGGTTCATCTTGTATTTAT	0.642000													17	21					0	0	0.010504	0	0
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:55405931A>G	ENST00000314612.2	+	1	98	c.98A>G	c.(97-99)tAc>tGc	p.Y33C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363000													20	7					0	0	0.007413	0	0
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:152651117C>A	ENST00000367255.5	-	78	15304	c.14703G>T	c.(14701-14703)agG>agT	p.R4901S	SYNE1_ENST00000448038.1_Missense_Mutation_p.R4830S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4648S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4901S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4830S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517000										HNSCC(10;0.0054)			40	72					6.33695e-27	7.81352e-27	0.007835	1	0
TTN	7273	broad.mit.edu	37	2	179410748	179410748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179410748C>T	ENST00000589042.1	-	343	95439	c.95215G>A	c.(95215-95217)Gaa>Aaa	p.E31739K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22799K|TTN_ENST00000460472.2_Missense_Mutation_p.E22674K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22866K|TTN_ENST00000591111.1_Missense_Mutation_p.E30098K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29171K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30098	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGATTTCTGCTCCTCCG	0.532000													18	16					0	0	0.008871	0	0
DNM3	26052	broad.mit.edu	37	1	172278001	172278001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:172278001T>C	ENST00000520906.1	+	16	2031	c.1903T>C	c.(1903-1905)Tgt>Cgt	p.C635R	DNM3_ENST00000367731.1_Intron|DNM3_ENST00000355305.5_Intron|DNM3_ENST00000358155.4_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3	0					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATATCTCTTATGTAAAAATTA	0.353000													6	3					0	0	0.001168	0	0
LCE3D	84648	broad.mit.edu	37	1	152552220	152552220	+	Missense_Mutation	SNP	G	G	A	rs147417899	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:152552220G>A	ENST00000368787.3	-	2	249	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	65					keratinization			p.R65C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCCTCTGGCGCCGGCATCGG	0.682000													42	61					0	0	0.013114	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810424	140810424	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:140810424A>G	ENST00000252085.3	+	1	240	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACGCTATTCAGTTCCG	0.627000													90	107					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39420751	39420751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:39420751G>A	ENST00000280481.7	+	7	6277	c.6061G>A	c.(6061-6063)Gag>Aag	p.E2021K	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2021	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTGGATGAGAGTGCTGG	0.433000													11	19					0	0	0.010729	0	0
TAF5	6877	broad.mit.edu	37	10	105128037	105128037	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:105128037A>G	ENST00000369839.3	+	1	314	c.291A>G	c.(289-291)ctA>ctG	p.L97L	TAF5_ENST00000351396.4_Silent_p.L97L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	97	LisH.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GACAGACTCTACTGGCCGTGC	0.751000													4	3					0	0	0.009096	0	0
CCNA2	890	broad.mit.edu	37	4	122740027	122740027	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:122740027G>C	ENST00000274026.5	-	6	1347	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	348					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCAAATACTTGAGGTATGGGT	0.388000													25	31					0	0	0.003954	0	0
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:119025544C>T	ENST00000307417.3	+	6	969	c.605C>T	c.(604-606)tCt>tTt	p.S202F	ABCG4_ENST00000449422.2_Missense_Mutation_p.S202F|ABCG4_ENST00000531739.1_Missense_Mutation_p.S202F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622000													64	90					0	0	0.014410	0	0
NUP210L	91181	broad.mit.edu	37	1	153998026	153998026	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:153998026C>A	ENST00000368559.3	-	30	4185	c.4114G>T	c.(4114-4116)Ggg>Tgg	p.G1372W	NUP210L_ENST00000271854.3_Missense_Mutation_p.G1372W|NUP210L_ENST00000368553.1_Missense_Mutation_p.G305W	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1372						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCTGGACCCCAGTTATGGTT	0.383000													10	244					3.86212e-05	4.15669e-05	0.008291	1	0
STAC3	246329	broad.mit.edu	37	12	57637894	57637894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:57637894G>A	ENST00000332782.2	-	11	1174	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	STAC3_ENST00000546246.2_Nonsense_Mutation_p.Q139*|STAC3_ENST00000554578.1_Nonsense_Mutation_p.Q286*	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	325	SH3 2.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGAGTGATCTGCCCTATCTCG	0.562000											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	30					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179656911	179656911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179656911G>A	ENST00000589042.1	-	10	1774	c.1550C>T	c.(1549-1551)aCt>aTt	p.T517I	TTN_ENST00000359218.5_Missense_Mutation_p.T517I|TTN_ENST00000460472.2_Missense_Mutation_p.T517I|TTN_ENST00000342175.6_Missense_Mutation_p.T517I|TTN_ENST00000591111.1_Missense_Mutation_p.T517I|TTN_ENST00000342992.6_Missense_Mutation_p.T517I|TTN_ENST00000360870.5_Missense_Mutation_p.T517I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTTTCAGTTTCTTTTCT	0.279000													17	23					0	0	0.006122	0	0
CACNA1D	776	broad.mit.edu	37	3	53756393	53756393	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53756393G>T	ENST00000288139.4	+	13	1736	c.1618G>T	c.(1618-1620)Gtg>Ttg	p.V540L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V520L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V520L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAGGGCCGCCGTGAAGTCTGT	0.483000													44	31					8.86878e-18	1.03334e-17	0.014410	1	0
NR2C1	7181	broad.mit.edu	37	12	95434302	95434302	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:95434302C>A	ENST00000333003.5	-	10	1533	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	NR2C1_ENST00000330677.7_Silent_p.L401L|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.L401L	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	401					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TTGATAAGAACAGCAGTCTGG	0.423000													32	40					9.65021e-13	1.08458e-12	0.010818	1	0
SLC9C2	284525	broad.mit.edu	37	1	173499145	173499145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:173499145G>A	ENST00000367714.3	-	18	2634	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	738					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R738C(1)									AAGCTGAGGCGCTTTTTGATC	0.323000													30	23					0	0	0.008361	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377274	55377274	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:55377274C>T	ENST00000326321.3	+	7	1048	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	KIR3DL2_ENST00000270442.5_Silent_p.L322L|KIR3DL1_ENST00000402254.2_Silent_p.L339L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	339					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGCAGACACCTGCATGTTCT	0.438000													44	60					0	0	0.014410	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3664824	3664824	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:3664824T>C	ENST00000335312.3	-	3	303	c.215A>G	c.(214-216)aAg>aGg	p.K72R	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.K72R|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.K72R|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.K72R	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	72					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGAACCTTCTTGTAGGTGGT	0.642000													66	91					0	0	0.014410	0	0
LAD1	3898	broad.mit.edu	37	1	201355634	201355635	+	Frame_Shift_Ins	INS	-	-	G	rs140126456	by1000genomes	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:201355634_201355635insG	ENST00000391967.2	-	3	1155_1156	c.854_855insC	c.(853-855)acafs	p.T285fs	LAD1_ENST00000367313.3_Frame_Shift_Ins_p.T299fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	285						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCTGAGGCTGTGGCCCTCTT	0.634													8	193	---	---	---	---					
GKN1	56287	broad.mit.edu	37	2	69201773	69201774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:69201773_69201774insG	ENST00000377938.2	+	1	69_70	c.6_7insG	c.(7-9)gccfs	p.A3fs		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	3					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GGTCCATGCTTGCCTACTCCTC	0.411													33	37	---	---	---	---					
GPM6A	2823	broad.mit.edu	37	4	176622885	176622885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:176622885delC	ENST00000280187.7	-	3	116	c.71delG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000515090.1_Frame_Shift_Del_p.G17fs|GPM6A_ENST00000506894.1_Frame_Shift_Del_p.G13fs|GPM6A_ENST00000393658.2_Frame_Shift_Del_p.G24fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATAGGGAATGCCCCCCAGGCA	0.428													23	52	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131374468	131374469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr9:131374468_131374469insT	ENST00000358161.5	+	39	5099_5100	c.4986_4987insT	c.(4987-4989)aacfs	p.N1663fs	SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.N1658fs|SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.N1663fs			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1658					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGAAGCCAACAAGCAGCA	0.530													82	12	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													5	6	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aagccgfs	p.P28fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	29				R -> K (in Ref. 1; AAK92018).		mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	4	---	---	---	---					
LOC100288866	100288866	broad.mit.edu	37	17	47640156	47640171	+	RNA	DEL	GGAGGGAGGGAGGGAG	GGAGGGAGGGAGGGAG	-			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:47640156_47640171delGGAGGGAGGGAGGGAG	ENST00000514506.1	-	0	246				RP5-1029K10.4_ENST00000503624.1_RNA	NR_103773.1																						aaggaaggaaggagggagggagggagggagggaggg	0.532													2	4	---	---	---	---					
LPHN1	22859	broad.mit.edu	37	19	14272185	14272186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14272185_14272186insC	ENST00000340736.6	-	7	1760_1761	c.1463_1464insG	c.(1462-1464)gtcfs	p.V488fs	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.V483fs|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	488					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGCCACTGGACCCGCCGTAC	0.713													8	23	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123211880	123211881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:123211880_123211881insT	ENST00000371160.1	+	27	3037_3038	c.2747_2748insT	c.(2746-2751)gctaagfs	p.K917fs	STAG2_ENST00000354548.5_Frame_Shift_Ins_p.K848fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.K917fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.K917fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	917					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTCAGTGTGCTAAGACCCTTA	0.322													47	6	---	---	---	---