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
MYO9A	4649	broad.mit.edu	37	15	72227722	72227722	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:72227722T>C	ENST00000356056.5	-	17	2954	c.2482A>G	c.(2482-2484)Act>Gct	p.T828A	MYO9A_ENST00000564571.1_Missense_Mutation_p.T828A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T828A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T809A|MYO9A_ENST00000566885.1_Missense_Mutation_p.T448A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	828					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGCTGCTAGTTGAATTAGCA	0.383000													48	111					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11199589	11199589	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:11199589G>C	ENST00000304623.8	-	11	2135	c.1946C>G	c.(1945-1947)aCt>aGt	p.T649S	CTNND2_ENST00000503622.1_Missense_Mutation_p.T312S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.T649S|CTNND2_ENST00000458100.2_Missense_Mutation_p.T216S|CTNND2_ENST00000511377.1_Missense_Mutation_p.T558S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	649					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGGTCAGTCGTCTTGCG	0.428000													103	240					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459709	92459709	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92459709G>A	ENST00000370389.2	+	15	2890	c.1966G>A	c.(1966-1968)Gta>Ata	p.V656I	BRDT_ENST00000362005.3_Missense_Mutation_p.V729I|BRDT_ENST00000399546.2_Missense_Mutation_p.V729I|BRDT_ENST00000402388.1_Missense_Mutation_p.V729I|BRDT_ENST00000394530.3_Missense_Mutation_p.V683I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	729	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTTCACATGTAATGCCACC	0.363000													86	125					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	171956858	171956858	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:171956858G>A	ENST00000358155.4	+	3	474	c.298G>A	c.(298-300)Gag>Aag	p.E100K	DNM3_ENST00000367731.1_Missense_Mutation_p.E100K|DNM3_ENST00000367733.2_Missense_Mutation_p.E100K|DNM3_ENST00000355305.5_Missense_Mutation_p.E100K|DNM3_ENST00000520906.1_Missense_Mutation_p.E100K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	100					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						AGTTCGCCTTGAGATTGAAGC	0.348000													102	144					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36693861	36693861	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:36693861A>G	ENST00000399881.3	+	13	1380	c.1343A>G	c.(1342-1344)cAg>cGg	p.Q448R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	448	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATCATACAGATACTGCAA	0.358000													65	70					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77521428	77521428	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:77521428C>G	ENST00000255194.6	-	6	716	c.541G>C	c.(541-543)Gat>Cat	p.D181H	AP3B1_ENST00000519295.1_Missense_Mutation_p.D132H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	181					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGCTCTGGATCAAGGCTAAAA	0.284000									Hermansky-Pudlak syndrome				4	38					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580643	15580643	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:15580643C>T	ENST00000292609.4	-	4	1570	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.A481T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	481					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCACTATGGCCACGCCGAAG	0.726000													19	15					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													9	52					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620619	20620619	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:20620619G>T	ENST00000504154.1	+	37	4829	c.4577G>T	c.(4576-4578)aGg>aTg	p.R1526M	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1522M|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1518M|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1539M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1526	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.R1526T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTGTACGAGGTGTGTGTCC	0.498000													24	109					2.12542e-12	2.38136e-12	1	1	0
NOS2	4843	broad.mit.edu	37	17	26091081	26091081	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:26091081G>T	ENST00000313735.6	-	21	2751	c.2518C>A	c.(2518-2520)Cag>Aag	p.Q840K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	840	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCAGCAGCTGGGTTGGGGGT	0.632000													25	41					1.5548e-18	1.8905e-18	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40075138	40075138	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:40075138C>T	ENST00000336649.4	+	35	5100	c.5100C>T	c.(5098-5100)gaC>gaT	p.D1700D	CACNA1I_ENST00000402142.3_Silent_p.D1694D|CACNA1I_ENST00000401624.1_Silent_p.D1694D|CACNA1I_ENST00000407673.1_Silent_p.D1659D|CACNA1I_ENST00000404898.1_Silent_p.D1659D|CACNA1I_ENST00000400164.3_Silent_p.D1659D			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1694					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCACCCACGACGAGCGCAGCT	0.657000													5	34					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638368	176638368	+	Nonsense_Mutation	SNP	G	G	T	rs138673583		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:176638368G>T	ENST00000439151.2	+	5	3013	c.2968G>T	c.(2968-2970)Gag>Tag	p.E990*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E887*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E721*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E721*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	990					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTATCTGGCGAGTTGTCTGC	0.527000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			167	46					3.75818e-72	5.62412e-72	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122645426	122645426	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:122645426G>T	ENST00000195173.4	-	9	1252	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R317S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	317	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGGGCCACGCGAGAGTACACG	0.602000													17	62					1.99824e-07	2.10651e-07	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110501372	110501372	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:110501372A>G	ENST00000260283.4	-	4	616	c.332T>C	c.(331-333)cTg>cCg	p.L111P	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L85P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L88P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L85P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	111	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACAACAAACAGATCATTGAA	0.398000													15	125					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673573	3673573	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:3673573G>C	ENST00000344754.4	-	14	3713	c.3714C>G	c.(3712-3714)ttC>ttG	p.F1238L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F1238L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1238	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAGCTGTAGAAACCCTCAT	0.682000													33	84					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730200	55730200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:55730200G>A	ENST00000379906.2	+	8	1466	c.1211G>A	c.(1210-1212)tGg>tAg	p.W404*	SLC6A2_ENST00000561820.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000414754.3_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000568943.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000567238.1_Nonsense_Mutation_p.W299*|SLC6A2_ENST00000219833.8_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000566163.1_Nonsense_Mutation_p.W359*	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	404					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTACATTCTGGGCTGTTGTG	0.527000													29	140					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390470	158390470	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:158390470G>A	ENST00000314902.2	-	1	186	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGGATGGCAAGGAAGAAGTAC	0.488000													121	171					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386746	114386746	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:114386746C>A	ENST00000545145.2	-	10	1246	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	RBM19_ENST00000392561.3_Missense_Mutation_p.G390W|RBM19_ENST00000261741.5_Missense_Mutation_p.G390W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	390					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.G390W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCGTTCTCCCCGAGTATCCGG	0.577000													137	243					2.42733e-55	3.50978e-55	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65376898	65376898	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:65376898C>G	ENST00000330909.8	-	14	2334	c.2335G>C	c.(2335-2337)Gat>Cat	p.D779H	MAGI1_ENST00000483466.1_Missense_Mutation_p.D779H|MAGI1_ENST00000402939.2_Missense_Mutation_p.D779H|MAGI1_ENST00000497477.2_Missense_Mutation_p.D779H	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	779					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCAGTTTGATCTGGAGCTTGG	0.552000													50	121					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058525	53058525	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:53058525A>G	ENST00000359798.4	+	5	2536	c.2356A>G	c.(2356-2358)Act>Gct	p.T786A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGACTTCATACTGGAGAGAA	0.423000													410	287					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985965	11985965	+	RNA	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:11985965T>A	ENST00000434078.2	+	0	608					NR_027425.1																						GAGAATCTCTTCAAGACAAGG	0.493000													14	278					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154193517	154193517	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154193517G>T	ENST00000336314.4	+	19	2945	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1051							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGAGGGCAGGAAGCGGTGC	0.642000													94	124					1.31969e-37	1.80456e-37	1	1	0
DNMT3B	1789	broad.mit.edu	37	20	31374396	31374396	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:31374396A>G	ENST00000328111.2	+	5	716	c.395A>G	c.(394-396)cAt>cGt	p.H132R	DNMT3B_ENST00000201963.3_Missense_Mutation_p.H144R|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.H132R|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.H132R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	132	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCGCAACCATGTGGACGAG	0.617000													62	151					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72948639	72948639	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:72948639C>A	ENST00000262209.4	-	21	2646	c.2439G>T	c.(2437-2439)acG>acT	p.T813T	RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGATGCCCGTCGTGTAGATAA	0.358000													42	102					1.57019e-19	1.94795e-19	1	1	0
PARS2	25973	broad.mit.edu	37	1	55223963	55223963	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:55223963T>C	ENST00000371279.3	-	2	954	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	291					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCAGGGCAGTTCATTTGTGA	0.522000													53	226					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136523	40136523	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:40136523G>T	ENST00000278198.2	-	2	3283	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	LRRC4C_ENST00000530763.1_Silent_p.T440T|LRRC4C_ENST00000528697.1_Silent_p.T440T|LRRC4C_ENST00000527150.1_Silent_p.T440T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	440	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAACATTCAGGGTGGCTGAAG	0.443000													113	125					6.25226e-48	8.83157e-48	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671630	49671630	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:49671630G>C	ENST00000561648.1	-	4	1486	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	ZNF423_ENST00000562871.1_Missense_Mutation_p.S418C|ZNF423_ENST00000562520.1_Missense_Mutation_p.S418C|ZNF423_ENST00000262383.2_Missense_Mutation_p.S478C|ZNF423_ENST00000535559.1_Missense_Mutation_p.S361C|ZNF423_ENST00000563137.2_Missense_Mutation_p.S418C|ZNF423_ENST00000567169.1_Missense_Mutation_p.S361C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	478					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGGAAGGCAGAGATGTTGCC	0.582000													38	137					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682807	20682807	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:20682807G>A	ENST00000404938.2	+	6	967	c.314_splice	c.e6-1	p.L105_splice		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	289	ABC transporter 1.				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						CTTTCTTCAGGTTGACCCTGT	0.363000													10	16					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936260	34936260	+	Silent	SNP	G	G	C	rs147400420	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:34936260G>C	ENST00000382021.2	+	4	554	c.327G>C	c.(325-327)acG>acC	p.T109T	DNAJC21_ENST00000342382.4_Silent_p.T109T|DNAJC21_ENST00000303525.7_Silent_p.T109T	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	109					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.T109T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GATTTTACACGGTGTATCGTA	0.318000													71	123					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394711	5394711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:5394711C>A	ENST00000341928.2	-	22	3575	c.3235G>T	c.(3235-3237)Gag>Tag	p.E1079*	EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E376*|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E1079*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E384*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGTGATCTCTGTCTCTTTA	0.527000													88	113					4.7146e-34	6.36545e-34	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126753372	126753372	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:126753372G>C	ENST00000274473.6	+	11	1440	c.1173G>C	c.(1171-1173)tgG>tgC	p.W391C	MEGF10_ENST00000503335.2_Missense_Mutation_p.W391C|MEGF10_ENST00000418761.2_Missense_Mutation_p.W391C|MEGF10_ENST00000508365.1_Missense_Mutation_p.W391C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	391	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCCGGGCTGGTCAGGACTCT	0.517000													58	142					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473634	141473634	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141473634A>T	ENST00000389484.3	-	37	6902	c.5931T>A	c.(5929-5931)atT>atA	p.I1977I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1977					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCAACTTCAATTAAGTTGA	0.343000										TSP Lung(27;0.18)			39	127					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105606552	105606552	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:105606552C>T	ENST00000254765.3	-	4	947	c.669G>A	c.(667-669)caG>caA	p.Q223Q	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	223						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGTAGCGATGCTGAGCAAAGA	0.393000													167	248					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91942249	91942249	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:91942249T>C	ENST00000554684.1	-	7	1668	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C	SMEK1_ENST00000337238.4_Missense_Mutation_p.Y391C|SMEK1_ENST00000428424.2_Missense_Mutation_p.Y152C|SMEK1_ENST00000554943.1_Missense_Mutation_p.Y391C|SMEK1_ENST00000555462.1_Missense_Mutation_p.Y152C			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	391						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATGGATTATATTCAACCAA	0.363000													22	89					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39846300	39846300	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:39846300C>T	ENST00000538976.1	+	13	1663	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	DAAM2_ENST00000274867.4_Missense_Mutation_p.S494F|DAAM2_ENST00000398904.2_Missense_Mutation_p.S494F	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	494					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCCGGGAGTCCCAGGAGCTG	0.562000													14	25					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890013	166890013	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:166890013G>A	ENST00000271417.3	-	9	1870	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	ILDR2_ENST00000525740.1_Silent_p.Y478Y|ILDR2_ENST00000528703.1_Silent_p.Y546Y|ILDR2_ENST00000526687.1_Silent_p.Y497Y|ILDR2_ENST00000529071.1_Silent_p.Y586Y|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	605						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGCGGCCGCGGTAGGACGGGC	0.677000													15	12					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268171	43268171	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268171G>T	ENST00000404209.4	-	2	423	c.327C>A	c.(325-327)atC>atA	p.I109I	PSG8_ENST00000401467.2_Silent_p.I109I|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Silent_p.I109I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	109	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGACATTCTGGATCAGCAGGG	0.413000													327	602					8.87606e-151	1.35677e-150	1	1	0
PDZD9	255762	broad.mit.edu	37	16	21995692	21995692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:21995692C>A	ENST00000286143.6	-	5	826	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	PDZD9_ENST00000424898.2_Nonsense_Mutation_p.E231*|PDZD9_ENST00000537222.2_Nonsense_Mutation_p.E171*			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	231										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GAAGAGCTTTCATTGTCTTGC	0.453000													144	401					1.82087e-56	2.64181e-56	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50963374	50963374	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50963374A>C	ENST00000357701.5	+	24	2920	c.2869A>C	c.(2869-2871)Aaa>Caa	p.K957Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	957	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGCCCCCAAAGATGATGG	0.552000													4	19					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691728	109691728	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:109691728A>T	ENST00000277225.5	+	3	5824	c.5535A>T	c.(5533-5535)ccA>ccT	p.P1845P	ZNF462_ENST00000441147.2_Silent_p.P690P|ZNF462_ENST00000457913.1_Silent_p.P1845P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1845					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGGCTCCCATTCCGCTGCA	0.522000													71	75					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71016374	71016374	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71016374G>C	ENST00000334414.6	-	3	548	c.504C>G	c.(502-504)ccC>ccG	p.P168P	PTPRB_ENST00000550358.1_Silent_p.P168P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P167P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAATCTGGGGTGGAGCCG	0.448000													7	14					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7690829	7690829	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:7690829C>G	ENST00000338316.4	+	5	835	c.746C>G	c.(745-747)cCg>cGg	p.P249R	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Missense_Mutation_p.P69R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	249					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCTGCTGCCGGCCCACATC	0.557000													26	56					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453000													79	252					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													4	41					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57618966	57618966	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:57618966C>T	ENST00000374888.1	+	1	698	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccggccccgccgcggccttc	0.741000													13	3					0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105070800	105070800	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105070800G>A	ENST00000341595.3	-	1	1184	c.279C>T	c.(277-279)ctC>ctT	p.L93L	TMEM179_ENST00000556573.1_Silent_p.L93L	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	93						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGAGGAAGAAGAGCGTGCGCC	0.751000													6	23					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15029413	15029413	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrY:15029413G>C	ENST00000336079.3	+	16	1968	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	DDX3Y_ENST00000360160.4_Missense_Mutation_p.S621T	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	621						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						AGCAGCCGCAGTGGTGGAGGT	0.433000													2	8					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70934711	70934711	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:70934711C>A	ENST00000334414.6	-	23	5565	c.5521G>T	c.(5521-5523)Gtg>Ttg	p.V1841L	PTPRB_ENST00000550358.1_Missense_Mutation_p.V1753L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1533L|PTPRB_ENST00000261266.5_Missense_Mutation_p.V1623L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1623	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGCACTCACACCTTCAATA	0.413000													9	16					0.00621372	0.00627234	1	1	0
SGK223	157285	broad.mit.edu	37	8	8234718	8234718	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:8234718G>T	ENST00000520004.1	-	3	1465	c.1201C>A	c.(1201-1203)Ccc>Acc	p.P401T	SGK223_ENST00000330777.4_Missense_Mutation_p.P401T			Q86YV5	SG223_HUMAN		401							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCTCCCGGGGGTGGGCCGGG	0.642000													71	62					1.37693e-34	1.87088e-34	1	1	0
ZNF330	27309	broad.mit.edu	37	4	142150788	142150788	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:142150788G>T	ENST00000262990.4	+	6	583	c.355G>T	c.(355-357)Gct>Tct	p.A119S	ZNF330_ENST00000421169.2_Missense_Mutation_p.A59S	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	119						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGTACACATGCTTGTGCCTG	0.443000													201	102					2.16601e-92	3.29911e-92	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14766103	14766103	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:14766103G>T	ENST00000261170.3	-	27	3306	c.3170C>A	c.(3169-3171)aCt>aAt	p.T1057N	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1057					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTATTCCAGAGTGCCTTTTTT	0.413000													170	266					4.48428e-77	6.75799e-77	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768675	140768675	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140768675A>G	ENST00000519479.1	+	1	1224	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGTTCTAGACCGCGAGC	0.443000													118	142					0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717735	2717735	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:2717735C>T	ENST00000323469.4	-	2	253	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V24M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	24					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCGCAGCACCAGCGAGCTC	0.677000													27	113					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208455	58208455	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208455C>A	ENST00000377918.3	+	1	1801	c.1775C>A	c.(1774-1776)aCc>aAc	p.T592N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAACGACACCGCGGAGCTG	0.662000													60	64					1.93748e-29	2.53591e-29	1	1	0
MAPKAP1	79109	broad.mit.edu	37	9	128434625	128434625	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:128434625C>A	ENST00000265960.3	-	2	561	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D77Y	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	77	Interaction with MAP3K2.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551).	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATACCAAAGTCCCAACTTGAG	0.413000													46	53					2.64894e-19	3.25789e-19	1	1	0
PGM2	55276	broad.mit.edu	37	4	37848718	37848718	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:37848718G>A	ENST00000381967.4	+	9	1274	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PGM2_ENST00000544359.1_Missense_Mutation_p.G253S|PGM2_ENST00000537241.1_Missense_Mutation_p.G232S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	392					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTTAAAGGAAGGTTTTCATTT	0.448000													106	173					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606973	55606973	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55606973C>T	ENST00000378396.1	+	1	746	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CACCTGACTGCCATCACCATC	0.507000													47	175					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13947988	13947988	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:13947988A>T	ENST00000382080.1	-	8	1618	c.903T>A	c.(901-903)acT>acA	p.T301T	SGCZ_ENST00000421524.2_Silent_p.T254T	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	288					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGACTGACAAGTGGAACCTA	0.498000													76	188					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215473	21215473	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:21215473G>C	ENST00000342679.4	+	10	1043	c.794G>C	c.(793-795)cGg>cCg	p.R265P	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236P|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCATCCTGCGGTTCCCTTAC	0.672000													8	140					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													5	19					2.0095e-06	2.108e-06	1	1	0
AFF3	3899	broad.mit.edu	37	2	100203726	100203726	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100203726G>A	ENST00000317233.4	-	15	2716	c.2481C>T	c.(2479-2481)gaC>gaT	p.D827D	AFF3_ENST00000356421.2_Silent_p.D852D|AFF3_ENST00000409579.1_Silent_p.D852D|AFF3_ENST00000409236.1_Silent_p.D827D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	827					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTGTAGTCGTCTTCGTTGT	0.473000													228	271					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119672603	119672603	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:119672603G>T	ENST00000371322.5	-	13	1825	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	CUL4B_ENST00000404115.3_Missense_Mutation_p.F606L|CUL4B_ENST00000336592.6_Missense_Mutation_p.F593L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	606					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTCTTATAGAAGGCCTCAA	0.333000													80	24					2.09386e-48	2.96746e-48	1	1	0
PTPRR	5801	broad.mit.edu	37	12	71158516	71158516	+	Missense_Mutation	SNP	G	G	C	rs139968754	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71158516G>C	ENST00000283228.2	-	3	852	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G	PTPRR_ENST00000342084.4_Missense_Mutation_p.R22G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	134					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGGAAGATCCGAAGCAAGGTT	0.383000													55	98					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22296134	22296134	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:22296134C>A	ENST00000324559.8	+	20	2572	c.2255C>A	c.(2254-2256)aCg>aAg	p.T752K	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	752						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363000													43	49					3.68427e-32	4.8971e-32	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50216783	50216783	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50216783A>T	ENST00000392518.4	+	20	2705	c.2333A>T	c.(2332-2334)gAg>gTg	p.E778V	CPT1C_ENST00000598293.1_Missense_Mutation_p.E778V|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689V|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767V|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	778					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCAGGGAAGGAGAACTCCAGG	0.607000													234	174					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31983413C>T	ENST00000438447.1	+	3	1017	c.629C>T	c.(628-630)gCg>gTg	p.A210V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A210V			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACCGAACTGCGAAAAAGGGG	0.542000													97	149					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66880537	66880537	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:66880537G>A	ENST00000269080.2	-	26	3567	c.3429_splice	c.e26-1	p.L1144_splice	ABCA8_ENST00000586539.1_Splice_Site_p.L1184_splice|ABCA8_ENST00000430352.2_Splice_Site_p.L1184_splice	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1144						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAAGAGAAGCTGCAAAAGA	0.353000													34	8					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													6	56					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	36					2.56e-06	2.67892e-06	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944800	43944800	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:43944800C>A	ENST00000389420.3	-	2	364	c.365G>T	c.(364-366)gGg>gTg	p.G122V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G122V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	122						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCCGAGGGCCCTGCGTCGCT	0.657000													29	48					3.73988e-18	4.50893e-18	1	1	0
GRM7	2917	broad.mit.edu	37	3	6903434	6903434	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:6903434T>A	ENST00000486284.1	+	1	633	c.359T>A	c.(358-360)cTt>cAt	p.L120H	GRM7_ENST00000389336.4_Missense_Mutation_p.L120H|GRM7_ENST00000402647.2_Missense_Mutation_p.L120H|GRM7_ENST00000403881.1_Missense_Mutation_p.L120H|GRM7_ENST00000357716.4_Missense_Mutation_p.L120H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	120					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAACAGTCGCTTACTTTCGTC	0.592000													34	108					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027442	37027442	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37027442C>T	ENST00000358047.3	+	1	1011	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	320										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCGCCCAGAGCCTTCT	0.602000													142	43					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184024591	184024591	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:184024591C>T	ENST00000310118.4	+	16	2561	c.2003C>T	c.(2002-2004)gCa>gTa	p.A668V	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.A509V|PSMD2_ENST00000439383.1_Missense_Mutation_p.A538V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	668					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGATTGGTGCAGAGATGGCA	0.458000													108	127					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11737977	11737977	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:11737977G>T	ENST00000381486.2	+	14	2325	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	GREB1_ENST00000234142.5_Silent_p.V675V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	675						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTCCCATGTGTGTTCCATTG	0.557000													223	353					1.24708e-86	1.89273e-86	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100568693	100568693	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:100568693A>C	ENST00000358544.2	+	31	4947	c.4836A>C	c.(4834-4836)ttA>ttC	p.L1612F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1587F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1612					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGAACTTAGGAATTCTTC	0.348000													8	84					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193160195	193160195	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:193160195A>T	ENST00000342695.4	-	19	2625	c.2303T>A	c.(2302-2304)aTg>aAg	p.M768K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M749K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	768					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTCCCATACATAATGTGTTT	0.428000													21	51					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74325808	74325808	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:74325808G>A	ENST00000563500.1	+	5	1576	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	PML_ENST00000569477.1_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000435786.2_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000354026.6_Intron			P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGTCTGGGCGGTGCCCCTCT	0.607000			T	"""RARA, PAX5"""	"""APL, ALL"""								31	22					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:70841641G>T	ENST00000393567.2	-	86	15358	c.15208C>A	c.(15208-15210)Cgg>Agg	p.R5070R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517000													39	144					1.04594e-18	1.27539e-18	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58206752	58206752	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58206752C>G	ENST00000377918.3	+	1	98	c.72C>G	c.(70-72)tcC>tcG	p.S24S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	24	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCAACTACTCCGTGCCGGAGG	0.637000													36	49					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559006	140559006	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140559006A>C	ENST00000239444.2	+	1	1636	c.1391A>C	c.(1390-1392)aAc>aCc	p.N464T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		464	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCGCGAGAACAACAGCCCC	0.627000													181	1250					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44097469	44097469	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:44097469C>A	ENST00000267812.3	-	9	1375	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	381						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		Gtccaaagttcttgacctgag	0.468000													37	115					6.70999e-13	7.6177e-13	1	1	0
DAP3	7818	broad.mit.edu	37	1	155695220	155695220	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155695220A>G	ENST00000368336.5	+	5	442	c.318A>G	c.(316-318)ctA>ctG	p.L106L	DAP3_ENST00000343043.3_Silent_p.L106L|DAP3_ENST00000421487.2_Silent_p.L72L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000535183.1_Silent_p.L65L|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	106					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACCAGCCCTAGAACTTCTGC	0.468000													127	168					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405856	1405856	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:1405856C>A	ENST00000381312.1	-	3	769	c.444G>T	c.(442-444)acG>acT	p.T148T		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	148	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T148T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCACCGGGCCCGTCTGCGACA	0.677000													22	26					7.41877e-09	7.91829e-09	1	1	0
CDH6	1004	broad.mit.edu	37	5	31323308	31323308	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31323308G>T	ENST00000265071.2	+	12	2531	c.2266G>T	c.(2266-2268)Gtg>Ttg	p.V756L		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	756					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTGGAGTCAGTGACCACGGA	0.532000													58	107					7.36392e-32	9.75777e-32	1	1	0
PRRG1	5638	broad.mit.edu	37	X	37265460	37265460	+	Splice_Site	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37265460A>C	ENST00000542554.1	+	3	231		c.e3-1		PRRG1_ENST00000449135.2_Splice_Site|PRRG1_ENST00000378628.4_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|PRRG1_ENST00000491253.1_Splice_Site|PRRG1_ENST00000463135.1_Splice_Site|PRRG1_ENST00000543642.1_Splice_Site	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTTTGTACAGGGAATCATC	0.438000													62	19					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162894823	162894823	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894823C>A	ENST00000360534.3	-	8	1162	c.602G>T	c.(601-603)tGg>tTg	p.W201L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTCATAAACCCAGTCAGTTAT	0.274000													9	52					1.33987e-11	1.478e-11	1	1	0
OR5M10	390167	broad.mit.edu	37	11	56344372	56344372	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:56344372C>A	ENST00000526812.2	-	1	891	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTATAAAAGACTGCAATTATT	0.408000													76	281					1.38705e-31	1.83228e-31	1	1	0
TMPO	7112	broad.mit.edu	37	12	98927584	98927584	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:98927584G>T	ENST00000266732.4	+	4	1787	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCACTGGCATGCAAATA	0.393000													71	82					1.02487e-32	1.37506e-32	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92789439	92789439	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92789439G>A	ENST00000370343.3	+	8	1071	c.962G>A	c.(961-963)aGg>aAg	p.R321K	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	321						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GAATACAGTAGGTCAGAAATA	0.348000													29	145					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115050	27115050	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:27115050C>T	ENST00000377459.1	+	1	190	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	48					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GGAGCCGGCGCGCCAGTGTAC	0.657000													99	111					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75478454	75478454	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:75478454G>A	ENST00000592420.1	+	2	832	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000427180.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000423034.2_Intron			Q9UHD8	SEPT9_HUMAN	septin 9	193					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AACCAATGCCGGAAACCAGCC	0.587000													3	39					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38023283	38023283	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:38023283T>C	ENST00000445217.1	+	2	76	c.41T>C	c.(40-42)gTt>gCt	p.V14A	ZNF793_ENST00000587986.1_Missense_Mutation_p.V14A|ZNF793_ENST00000587143.1_Missense_Mutation_p.V14A|ZNF793_ENST00000589319.1_Missense_Mutation_p.V14A|ZNF793_ENST00000542455.1_Missense_Mutation_p.V14A|ZNF793_ENST00000588578.1_Missense_Mutation_p.V14A			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGATGTGGTTGTGGGCTTC	0.507000													46	46					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221560	43221560	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:43221560G>A	ENST00000422911.1	-	25	3538	c.3437C>T	c.(3436-3438)aCg>aTg	p.T1146M	PRDM15_ENST00000398548.1_Missense_Mutation_p.T1126M|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1109M|PRDM15_ENST00000269844.3_Missense_Mutation_p.T1455M|PRDM15_ENST00000447207.2_Missense_Mutation_p.T1089M|PRDM15_ENST00000470586.1_5'UTR			P57071	PRD15_HUMAN	PR domain containing 15	1455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCCCAGGGGCGTGATGGAGTT	0.642000													44	195					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511546	24511546	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:24511546T>C	ENST00000264463.4	-	6	1399	c.892A>G	c.(892-894)Act>Gct	p.T298A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTTCCCAGTGTCAGCATCA	0.423000										HNSCC(23;0.051)			16	172					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43251533	43251533	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43251533G>A	ENST00000372874.4	-	8	851	c.717C>T	c.(715-717)ggC>ggT	p.G239G	ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Silent_p.G215G|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	239					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GGGTGTGGTAGCCGTGTCCCA	0.592000									Adenosine Deaminase Deficiency				101	218					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831145	61831145	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:61831145C>T	ENST00000280772.1	-	37	9685	c.9494G>A	c.(9493-9495)aGc>aAc	p.S3165N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3165					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTAAAGGGCTTTTCCCAGA	0.438000													69	79					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50669597	50669597	+	Missense_Mutation	SNP	C	C	T	rs115319252	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:50669597C>T	ENST00000355832.5	-	19	3862	c.3784G>A	c.(3784-3786)Gtg>Atg	p.V1262M	ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.V632M|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1262					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACTGTGCACGCCAACTAGC	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)					13	41					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139308504	139308504	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:139308504G>A	ENST00000280098.4	+	4	611	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	78	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGGATTAGATGATGAAAGTAA	0.368000													29	118					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980643	110980643	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:110980643C>A	ENST00000524391.1	-	4	2209	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V393L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	393						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATATCCCACAGTAGTCATA	0.463000													99	166					1.14069e-49	1.62198e-49	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196227430	196227430	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196227430T>A	ENST00000367433.5	-	25	3134	c.3033A>T	c.(3031-3033)aaA>aaT	p.K1011N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.K969N|KCNT2_ENST00000294725.8_Missense_Mutation_p.K1035N|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1035						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGGGTTATTTTTTCAGCTG	0.473000													68	94					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53187953	53187953	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:53187953C>T	ENST00000417996.2	-	2	882	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	KRT3_ENST00000309505.3_Missense_Mutation_p.G270R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	270	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGCGCCCTCTCTCCCCG	0.547000													92	399					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55724725	55724725	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:55724725C>G	ENST00000321149.3	-	9	1490	c.1123G>C	c.(1123-1125)Gca>Cca	p.A375P	DYX1C1_ENST00000348518.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1_ENST00000380679.1_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	375					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGACAGAATGCTGTTCCACGT	0.328000													30	93					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38800181	38800181	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:38800181C>A	ENST00000359357.3	+	29	3875	c.3621C>A	c.(3619-3621)gaC>gaA	p.D1207E	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1424E|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1207E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGTGAGGACGTGATAAACT	0.333000													31	69					1.99505e-19	2.46076e-19	1	1	0
ITIH2	3698	broad.mit.edu	37	10	7759724	7759724	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:7759724A>T	ENST00000358415.4	+	6	769	c.603A>T	c.(601-603)caA>caT	p.Q201H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q190H|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	201					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTATCTGCAACCTGGACGGC	0.502000													158	132					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571589	101571589	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:101571589G>T	ENST00000326172.5	+	3	552	c.437G>T	c.(436-438)gGt>gTt	p.G146V	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G46V|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G146V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TAGACACAAGGTGTGAACATA	0.308000													26	80					6.32553e-13	7.20034e-13	1	1	0
HBBP1	3044	broad.mit.edu	37	11	5264414	5264414	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5264414C>A	ENST00000454892.1	-	0	82					NR_001589.1																						TGAGGTCATCCGTGAGCATAA	0.502000													17	38					1.15088e-07	1.21624e-07	1	1	0
AURKC	6795	broad.mit.edu	37	19	57744012	57744012	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57744012G>T	ENST00000302804.7	+	4	585	c.399G>T	c.(397-399)caG>caT	p.Q133H	AURKC_ENST00000415300.2_Missense_Mutation_p.Q114H|AURKC_ENST00000599062.1_Missense_Mutation_p.Q130H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGGAGCTGCAGAAAAGCGAGA	0.537000													167	123					3.57155e-81	5.40149e-81	1	1	0
OR10G4	390264	broad.mit.edu	37	11	123886778	123886778	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123886778C>G	ENST00000320891.4	+	1	497	c.497C>G	c.(496-498)cCc>cGc	p.P166R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATTTGCCCTACTGTGGA	0.562000													140	209					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791010	106791010	+	RNA	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:106791010C>T	ENST00000390613.2	-	0	425																											GTGTCTCTCGCACAGTAATAC	0.567000													55	1269					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598358	62598358	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:62598358C>A	ENST00000450537.1	-	4	325		c.e4-1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCAGGGAGAGCTAGGCGTGGG	0.647000													60	85					2.19297e-23	2.76056e-23	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922855	24922855	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:24922855C>A	ENST00000329468.2	+	1	2315	c.1841C>A	c.(1840-1842)cCg>cAg	p.P614Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGAGGCACCCGGGAAAGACA	0.478000													34	134					3.90053e-15	4.58633e-15	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73791082	73791082	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:73791082G>C	ENST00000223398.6	+	10	2678	c.2351G>C	c.(2350-2352)cGg>cCg	p.R784P	CLIP2_ENST00000395060.1_Missense_Mutation_p.R784P|CLIP2_ENST00000361545.5_Missense_Mutation_p.R749P	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	784						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGAGTTTGCGGGAGAAGCTC	0.647000													10	39					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422696	49422696	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:49422696G>A	ENST00000301067.7	-	45	14296	c.14297C>T	c.(14296-14298)cCt>cTt	p.P4766L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGCTTTCCAGGGACCTCCAG	0.547000													150	258					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515820	149515820	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:149515820C>A	ENST00000378016.2	+	0	11721							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGCAGCCGCACCCGCCTCT	0.677000													6	28					1.36491e-13	1.57461e-13	1	1	0
ZNF595	152687	broad.mit.edu	37	4	59391	59391	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:59391C>A	ENST00000509152.2	+	2	257	c.72C>A	c.(70-72)gcC>gcA	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A					zinc finger protein 595									p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428000													49	923					1.7489e-18	2.12048e-18	1	1	0
SVILP1	645954	broad.mit.edu	37	10	30987150	30987150	+	RNA	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:30987150G>A	ENST00000435645.1	+	0	431																											AAGCTTCTGGGTGGCCAAACC	0.403000													37	108					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879515	196879515	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196879515T>G	ENST00000367416.2	+	6	1038	c.901T>G	c.(901-903)Tac>Gac	p.Y301D	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.Y55D|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTACTCCTATTACTGTGACCA	0.418000													32	129					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69957119	69957119	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:69957119C>A	ENST00000358913.5	+	16	3657	c.3169C>A	c.(3169-3171)Cga>Aga	p.R1057R	MYPN_ENST00000354393.2_Silent_p.R782R|MYPN_ENST00000540630.1_Silent_p.R1057R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1057	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGAAGATCCCGAGTGCAAGA	0.443000													85	84					1.07134e-49	1.52844e-49	1	1	0
OR10G9	219870	broad.mit.edu	37	11	123894151	123894151	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123894151C>T	ENST00000375024.1	+	1	432	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCCTCCTGGCCACCAGCACTT	0.527000													45	214					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982635	9982635	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:9982635G>A	ENST00000383811.3	+	5	1161	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	CRELD1_ENST00000452070.1_Missense_Mutation_p.G188R|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188R|CRELD1_ENST00000397170.3_Missense_Mutation_p.G188R	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGCCGGCTACGGGGGTGAGGC	0.632000													94	95					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072577	94072577	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:94072577C>G	ENST00000542893.2	+	2	345	c.27C>G	c.(25-27)ctC>ctG	p.L9L	CRADD_ENST00000541813.1_Silent_p.L9L|CRADD_ENST00000552983.1_Silent_p.L9L|CRADD_ENST00000548483.1_Silent_p.L9L|CRADD_ENST00000332896.3_Silent_p.L9L|CRADD_ENST00000552033.1_Silent_p.L9L			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	9	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AACAAGTACTCCGCTCACTTC	0.488000													4	129					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:153247366C>A	ENST00000281708.4	-	10	2665	c.1436G>T	c.(1435-1437)cGa>cTa	p.R479L	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								71	44					2.94884e-30	3.88339e-30	1	1	0
GTPBP3	84705	broad.mit.edu	37	19	17448916	17448916	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:17448916C>G	ENST00000324894.8	+	2	221	c.153C>G	c.(151-153)atC>atG	p.I51M	GTPBP3_ENST00000361619.5_Missense_Mutation_p.I73M|GTPBP3_ENST00000358792.7_Missense_Mutation_p.I51M|GTPBP3_ENST00000600625.1_Missense_Mutation_p.I51M|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	51					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TCGCAGTGATCCGGACCAGCG	0.721000													11	41					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797877	2797877	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:2797877A>G	ENST00000399655.1	+	46	6314	c.6049A>G	c.(6049-6051)Atg>Gtg	p.M2017V	CACNA1C_ENST00000399617.1_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M2023V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M2045V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M2037V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M2058V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M2088V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M2088V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M2017V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M2034V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M2042V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M2065V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2100					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGTCTCCCTCATGGTGCCCAG	0.711000													35	60					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	86001139	86001139	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:86001139G>T	ENST00000372105.3	-	1	78	c.57C>A	c.(55-57)gcC>gcA	p.A19A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	19						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAAGCCCCGGGCCTGGGGGG	0.672000													21	51					2.37509e-13	2.71802e-13	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133672526	133672526	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:133672526G>T	ENST00000310926.4	-	5	978	c.705C>A	c.(703-705)gaC>gaA	p.D235E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.D159E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	235					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CCCTGCCATAGTCCACAAAGA	0.527000													24	94					1.64293e-13	1.88519e-13	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39921964	39921964	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:39921964T>C	ENST00000303538.8	-	7	1249	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	PDS5A_ENST00000503396.1_Missense_Mutation_p.Q237R	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	237					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTCAATAGTCTGGACTGTTCT	0.259000													13	72					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557646	160557646	+	Missense_Mutation	SNP	G	G	A	rs34205214	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:160557646G>A	ENST00000366963.4	+	6	1172	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A1_ENST00000457470.2_Missense_Mutation_p.R342H|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R342H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	342			R -> H (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214).			basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	p.R342H(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CGCACGCCGCGCCTGAGGAAG	0.587000													118	169					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402500	38402500	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:38402500C>A	ENST00000426402.2	-	0	508																											ACCCCAAAGTCATTTTCAATT	0.463000													37	78					2.26627e-22	2.83616e-22	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762628	140762628	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140762628G>T	ENST00000518325.1	+	1	162	c.162G>T	c.(160-162)ctG>ctT	p.L54L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGGCTGGAGCCCCGGG	0.652000													124	119					4.22328e-53	6.06564e-53	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106208539	106208539	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:106208539G>T	ENST00000390548.2	-	0	360																											AAGACTGACGGTCCCCCCAGG	0.627000													103	151					5.71645e-57	8.35031e-57	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	RNA	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403000													3	10					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13188969	13188969	+	Silent	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:13188969A>C	ENST00000319217.7	-	17	2425	c.2178T>G	c.(2176-2178)acT>acG	p.T726T	MPDZ_ENST00000541718.1_Silent_p.T726T|MPDZ_ENST00000536827.1_Silent_p.T726T|MPDZ_ENST00000381022.2_Silent_p.T726T|MPDZ_ENST00000546205.1_Silent_p.T726T|MPDZ_ENST00000381015.4_Silent_p.T726T|MPDZ_ENST00000447879.1_Silent_p.T726T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	726	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTATAATCACAGTGCTTGCTG	0.428000													32	51					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640564	57640564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57640564C>A	ENST00000254181.4	+	4	975	c.521C>A	c.(520-522)tCa>tAa	p.S174*	USP29_ENST00000598197.1_Nonsense_Mutation_p.S174*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	174					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACACTATCATCTGATGTA	0.363000													28	235					3.73808e-20	4.66443e-20	1	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	37					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166744890	166744890	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:166744890C>G	ENST00000243344.7	-	25	3495	c.3358G>C	c.(3358-3360)Gta>Cta	p.V1120L	TTC21B_ENST00000536175.1_Missense_Mutation_p.V58L	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1120						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGAAGCTGTACGTGACCCTGA	0.378000													49	58					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631019	21631019	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:21631019C>A	ENST00000328843.6	+	14	2522	c.2491C>A	c.(2491-2493)Cag>Aag	p.Q831K	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q831K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	831	Stem (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						TGAGCGCACACAGAAAAACGT	0.602000									Kartagener syndrome				57	105					6.3091e-27	8.15799e-27	1	1	0
CYP4A22	284541	broad.mit.edu	37	1	47606535	47606535	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:47606535C>G	ENST00000371891.3	+	2	310	c.279C>G	c.(277-279)ggC>ggG	p.G93G	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.G93G|CYP4A22_ENST00000371890.3_Silent_p.G93G	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	93						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGGGAGGCAAAGTTCGTG	0.507000													74	142					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268170	43268170	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268170G>T	ENST00000404209.4	-	2	424	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	PSG8_ENST00000401467.2_Missense_Mutation_p.Q110K|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q110K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	110	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGACATTCTGGATCAGCAGG	0.413000													318	602					2.17704e-151	3.33968e-151	1	1	0
TCTE1	202500	broad.mit.edu	37	6	44250254	44250254	+	Missense_Mutation	SNP	G	G	A	rs112092930		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:44250254G>A	ENST00000371505.4	-	4	1011	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	297								p.R297C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTATGATGCGTGCCTTGTCA	0.562000													76	131					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934743	150934743	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:150934743G>T	ENST00000035307.2	+	4	2808	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	CHPF2_ENST00000495645.1_Missense_Mutation_p.G424V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	432						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTGCTCAACGGCTATCGGCGC	0.662000													113	144					1.34498e-63	1.97819e-63	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751829	247751829	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:247751829C>A	ENST00000320065.1	+	1	168	c.168C>A	c.(166-168)ccC>ccA	p.P56P	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTCTGGAACCCAAGCTTCATA	0.438000													115	173					1.67525e-54	2.41416e-54	1	1	0
INTS7	25896	broad.mit.edu	37	1	212151805	212151805	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:212151805T>C	ENST00000366994.3	-	11	1383	c.1279A>G	c.(1279-1281)Agc>Ggc	p.S427G	INTS7_ENST00000440600.2_Missense_Mutation_p.S378G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S427G|INTS7_ENST00000366993.3_Missense_Mutation_p.S427G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	427					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTGACTGGCTAAGATGGGGC	0.468000													70	96					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129513841	129513841	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:129513841G>T	ENST00000421865.2	+	12	1674	c.1625G>T	c.(1624-1626)gGc>gTc	p.G542V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	542	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATATGAGTGGCTGGTATCTG	0.478000													46	72					1.15183e-24	1.46721e-24	1	1	0
NEUROD4	58158	broad.mit.edu	37	12	55420705	55420705	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:55420705G>A	ENST00000242994.3	+	2	860	c.482G>A	c.(481-483)gGg>gAg	p.G161E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	161					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGTGTAAAGGGCTCTCTCAG	0.517000													66	103					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14184292C>T	ENST00000581935.1	+	0	981																				lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279000													3	23					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100217970	100217970	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100217970C>T	ENST00000317233.4	-	13	1533	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	AFF3_ENST00000356421.2_Missense_Mutation_p.G458E|AFF3_ENST00000409579.1_Missense_Mutation_p.G458E|AFF3_ENST00000409236.1_Missense_Mutation_p.G433E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	433					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGAGTCAGATCCGGAGCTGCT	0.662000													17	32					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:13411423C>T	ENST00000360228.5	-	18	2219	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	CACNA1A_ENST00000573710.2_Silent_p.Q741Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	741					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTGGCTTTCTGTAGGGCAA	0.522000													105	176					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105181075	105181075	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105181075C>A	ENST00000392634.4	+	21	3688	c.3576C>A	c.(3574-3576)tcC>tcA	p.S1192S	INF2_ENST00000330634.7_Silent_p.S1192S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1192					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGACAAGTCCTTCTCCGAGG	0.687000													20	36					1.96292e-10	2.13231e-10	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326605	57326605	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57326605C>A	ENST00000326441.9	-	10	3568	c.3205G>T	c.(3205-3207)Gat>Tat	p.D1069Y	PEG3_ENST00000423103.2_Missense_Mutation_p.D1069Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D943Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D945Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1069					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCCCCATCAGTATTCTCG	0.498000													36	289					1.69901e-12	1.91867e-12	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669998	84669998	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:84669998G>T	ENST00000284136.6	-	9	1080	c.1037C>A	c.(1036-1038)aCt>aAt	p.T346N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	346	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTGGTTGTAGTAAAGACTCC	0.308000													18	35					1.02788e-11	1.13973e-11	1	1	0
TENM1	10178	broad.mit.edu	37	X	123518698	123518698	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:123518698A>T	ENST00000422452.2	-	30	6146	c.6083T>A	c.(6082-6084)cTt>cAt	p.L2028H	TENM1_ENST00000371130.3_Missense_Mutation_p.L2021H|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCGTCCAATAAGAGGTCCTGC	0.423000													60	20					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039008	11039008	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:11039008A>G	ENST00000470054.1	-	0	1195									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTATGAAACATCTTTCACAC	0.393000													45	677					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836878	23836878	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:23836878C>T	ENST00000359788.4	-	4	1025	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	286					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTCACATTTGTAGGG	0.378000													21	48					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41058254	41058254	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:41058254G>A	ENST00000399564.4	-	7	1117	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAGTCTTCCCGATGCAGCAGC	0.502000													20	79					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757889	62757889	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:62757889A>T	ENST00000281156.4	-	3	508	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	77	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAATTTCCCCACAAAATTGAA	0.363000													46	104					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571723	19571723	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:19571723C>T	ENST00000507958.1	-	10	2208	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	CDH18_ENST00000511273.1_Silent_p.L406L|CDH18_ENST00000506372.1_Silent_p.L406L|CDH18_ENST00000274170.4_Silent_p.L406L|CDH18_ENST00000502796.1_Silent_p.L406L|CDH18_ENST00000382275.1_Silent_p.L406L			Q13634	CAD18_HUMAN	cadherin 18, type 2	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATCTTGTGCCAAAACTGTAC	0.403000													50	107					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:39330868T>G	ENST00000221419.5	-	8	1467	c.1101A>C	c.(1099-1101)ccA>ccC	p.P367P	HNRNPL_ENST00000600873.1_Silent_p.P234P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642000													10	21					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23891570	23891570	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23891570T>A	ENST00000264867.2	-	1	130	c.11A>T	c.(10-12)gAc>gTc	p.D4V	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D4V	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	4					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTGCACATGTCCCACGCCAT	0.562000													68	124					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526866	35526866	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526866C>T	ENST00000262878.4	-	14	1784	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATCCTGATTGCTCTGTTGGGG	0.323000													48	77					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119212270	119212270	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:119212270A>C	ENST00000555262.1	-	13	1887	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	MFRP_ENST00000449574.2_Missense_Mutation_p.C576W|MFRP_ENST00000530681.1_Missense_Mutation_p.C576W|MFRP_ENST00000360167.4_Missense_Mutation_p.C458W|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGGGCTGGGCACAAGCTTCCA	0.652000													22	98					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48682991	48682991	+	Splice_Site	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:48682991T>G	ENST00000435803.1	+	60	14967		c.e60+2		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTTCAAGGTAGTGCTAATA	0.303000													76	132					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81676811	81676811	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:81676811G>A	ENST00000550584.2	-	25	3291	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S846F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S904F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S978F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S900F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S984F|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S984F	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	904										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTTCCTCAGATTCTTTCTG	0.323000													3	43					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25028384	25028384	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:25028384C>G	ENST00000379044.4	-	3	1322	c.1112G>C	c.(1111-1113)cGa>cCa	p.R371P		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	371						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CACCTGGACTCGGGCCTCGGT	0.632000													32	11					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958040	57958040	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:57958040T>A	ENST00000311591.3	+	1	135	c.78T>A	c.(76-78)ccT>ccA	p.P26P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGAGGGTTCCTCTCTTCCTCA	0.493000													26	96					0	0	1	0	0
LPPR3	79948	broad.mit.edu	37	19	815258	815258	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:815258C>T	ENST00000359894.2	-	4	394	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	LPPR3_ENST00000520876.3_Missense_Mutation_p.G111R	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		111						integral to membrane	phosphatidate phosphatase activity										CCCTccgccccggcgggcccc	0.706000													3	33					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138																											CATGAACACCATCAGCACAGC	0.632000													3	54					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113966914	113966914	+	Splice_Site	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:113966914G>T	ENST00000297405.5	-	8	1663	c.1420_splice	c.e8+1	p.I473_splice	CSMD3_ENST00000343508.3_Splice_Site_p.I433_splice|CSMD3_ENST00000352409.3_Splice_Site_p.I473_splice|CSMD3_ENST00000455883.2_Splice_Site_p.I369_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	473						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACACTCACAGATAGAAAACT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	35					7.92952e-12	8.81516e-12	1	1	0
AMPH	273	broad.mit.edu	37	7	38466556	38466556	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:38466556G>T	ENST00000356264.2	-	15	1428	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	AMPH_ENST00000428293.2_Missense_Mutation_p.Q405K|AMPH_ENST00000325590.5_Missense_Mutation_p.Q405K|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	405					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCCTTACCTGTGTGAATCCA	0.348000													36	45					6.4771e-29	8.45183e-29	1	1	0
MAGEL2	54551	broad.mit.edu	37	15	23889926	23889926	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:23889926A>G	ENST00000532292.1	-	1	1249	c.1155T>C	c.(1153-1155)tcT>tcC	p.S385S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTACGGGCAGAGAGCTCCCTG	0.637000													15	71					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570200	22570200	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:22570200G>T	ENST00000510882.2	+	1	406	c.396G>T	c.(394-396)ccG>ccT	p.P132P	HDGFL1_ENST00000230012.3_Silent_p.P132P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	132										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGGGGAAGCCGGACGACGACA	0.731000													4	6					0.00909568	0.00915988	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48608658	48608658	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:48608658C>T	ENST00000354276.3	-	3	379	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18T	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCACGGCCGCCTTTTCTTCT	0.483000													137	212					0	0	1	0	0
SOX21	11166	broad.mit.edu	37	13	95364236	95364236	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:95364236C>A	ENST00000376945.2	-	1	153	c.68G>T	c.(67-69)cGg>cTg	p.R23L		NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	23					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					CATCTTGCGCCGCTGAGCCCG	0.667000													37	106					1.56738e-10	1.70696e-10	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221368	5221368	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221368C>G	ENST00000321255.1	-	1	562	c.563G>C	c.(562-564)tGc>tCc	p.C188S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTGCAGGCAGAAAGAGTG	0.398000													30	84					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752569	14752569	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14752569G>C	ENST00000358984.4	+	2	406	c.226G>C	c.(226-228)Gct>Cct	p.A76P	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A76P	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	76										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCGTAGGACTGCTCTACACTG	0.438000													12	85					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899517	155899517	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155899517G>T	ENST00000368320.3	-	3	395	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	124										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCTTGAGTCTGTCCTCGAGTC	0.458000													39	83					8.69298e-16	1.03064e-15	1	1	0
KIAA1715	80856	broad.mit.edu	37	2	176812271	176812271	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:176812271C>A	ENST00000272748.4	-	9	890	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	KIAA1715_ENST00000535310.1_Missense_Mutation_p.A140S|KIAA1715_ENST00000544803.1_Missense_Mutation_p.A215S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	215	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GATGATAGGGCTGGAGTAACA	0.483000													69	106					2.54232e-27	3.30733e-27	1	1	0
SCFD2	152579	broad.mit.edu	37	4	54231626	54231626	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:54231626G>T	ENST00000401642.3	-	1	616	c.483C>A	c.(481-483)gcC>gcA	p.A161A	SCFD2_ENST00000388940.4_Silent_p.A161A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	161					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGCAACAGGGGCAAGCAATA	0.567000													17	111					5.3912e-06	5.60057e-06	1	1	0
METTL20	254013	broad.mit.edu	37	12	31815160	31815160	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:31815160T>C	ENST00000357721.3	+	2	488	c.273T>C	c.(271-273)ccT>ccC	p.P91P	METTL20_ENST00000538463.1_Silent_p.P91P|METTL20_ENST00000538391.1_Silent_p.P91P|METTL20_ENST00000412352.2_Silent_p.P91P|METTL20_ENST00000395763.3_Silent_p.P91P	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	91						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						ACAGTGATCCTTACTGGGCAA	0.537000													33	169					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962996	73962996	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:73962996C>A	ENST00000373468.1	-	3	2047	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D466Y			Q5QGS0	K2022_HUMAN	KIAA2022	466					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAATTAGTGTCCCGAGCCATA	0.453000													58	14					9.72345e-25	1.24228e-24	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262015	39262015	+	Silent	SNP	T	T	C	rs140170009	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662000													5	129					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985531	140985531	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:140985531C>A	ENST00000298296.1	+	8	1845	c.1845C>A	c.(1843-1845)gcC>gcA	p.A615A	MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000544766.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	615	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACAGAGCCCAGGCCATAA	0.473000													93	24					7.69131e-47	1.08286e-46	1	1	0
LARP1	23367	broad.mit.edu	37	5	154179188	154179188	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154179188A>G	ENST00000336314.4	+	9	1208	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	472							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCGTTGATGAGAAAGTTCGT	0.468000													51	135					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69488085	69488085	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:69488085G>A	ENST00000279147.4	-	2	162	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	ORAOV1_ENST00000535657.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000539414.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000542341.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000536870.1_Intron	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	19										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTTCCCCATGAAACCTGTGA	0.478000													65	1790					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293828	175293828	+	Splice_Site	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:175293828G>C	ENST00000454872.1	+	10	1781		c.e10-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2						proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGTTTTTCAGAAAAATAATT	0.378000													14	37					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101777723	101777723	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:101777723A>G	ENST00000375001.3	+	10	1801	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	460	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGACAGTTTAACAACAGCTGC	0.577000													35	90					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610642	10610642	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:10610642C>T	ENST00000171111.5	-	2	615	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.C23Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	23			C -> Y (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.C23Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCCTCAGGGCACTGTGACTG	0.652000													81	112					0	0	1	0	0
SLMO1	10650	broad.mit.edu	37	18	12421573	12421573	+	Missense_Mutation	SNP	G	G	A	rs8090913		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12421573G>A	ENST00000592149.1	+	2	596	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	SLMO1_ENST00000590956.1_5'UTR|SLMO1_ENST00000587735.1_5'UTR|SLMO1_ENST00000336990.4_Missense_Mutation_p.R79Q|SLMO1_ENST00000440960.1_Missense_Mutation_p.R79Q			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	79	PRELI/MSF1.									endometrium(1)	1						ACATACATCCGAGAACATTCT	0.408000													48	212					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424417	76424417	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:76424417G>T	ENST00000266671.5	-	1	3295	c.1105C>A	c.(1105-1107)Cac>Aac	p.H369N	PHLDA1_ENST00000602540.1_Missense_Mutation_p.H228N|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	369	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gggtgcgggtgagggtgtggg	0.662000													14	22					1.5842e-08	1.68666e-08	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57866398	57866398	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57866398G>T	ENST00000393797.2	-	21	2560	c.2368C>A	c.(2368-2370)Cgg>Agg	p.R790R	ARHGAP9_ENST00000356411.2_Silent_p.R719R|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000393791.3_Silent_p.R700R|ARHGAP9_ENST00000430041.2_Silent_p.R516R|ARHGAP9_ENST00000550288.1_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	719					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTCTGGCCGAAACAGGGTT	0.552000													43	58					2.59497e-14	3.01806e-14	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26792997	26792997	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:26792997C>A	ENST00000541819.2	-	10	1635	c.1533G>T	c.(1531-1533)gtG>gtT	p.V511V	GABRB3_ENST00000299267.4_Silent_p.V455V|GABRB3_ENST00000311550.5_Silent_p.V455V|GABRB3_ENST00000400188.3_Silent_p.V384V|GABRB3_ENST00000545868.1_Silent_p.V370V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	455					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGAATGGAAACACGATCCTGG	0.393000													62	88					7.41606e-26	9.53175e-26	1	1	0
AGTR1	185	broad.mit.edu	37	3	148459143	148459143	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148459143C>A	ENST00000542281.1	+	4	767	c.321C>A	c.(319-321)agC>agA	p.S107R	AGTR1_ENST00000349243.3_Missense_Mutation_p.S107R|AGTR1_ENST00000404754.2_Missense_Mutation_p.S107R|AGTR1_ENST00000402260.1_Missense_Mutation_p.S107R|AGTR1_ENST00000418473.2_Missense_Mutation_p.S107R|AGTR1_ENST00000474935.1_Missense_Mutation_p.S107R|AGTR1_ENST00000475347.1_Missense_Mutation_p.S107R|AGTR1_ENST00000461609.1_Missense_Mutation_p.S107R|AGTR1_ENST00000497524.1_Missense_Mutation_p.S107R	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	107					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTCAGCCAGCGTCAGTTTCA	0.473000													99	100					8.68486e-57	1.26433e-56	1	1	0
CD93	22918	broad.mit.edu	37	20	23065301	23065301	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:23065301G>A	ENST00000246006.4	-	1	1676	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	510					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.P510H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGCCTTGGGGGTGCCCTC	0.647000													57	184					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535643	69535643	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:69535643T>A	ENST00000338206.5	-	1	703	c.694A>T	c.(694-696)Aag>Tag	p.K232*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	232					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGGTCCCACTTCTTCAGATCA	0.313000													54	290					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21446919	21446919	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:21446919A>G	ENST00000307378.6	-	12	2117	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L466P|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L464P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	466	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACAACCAGCAAGACAAGCTGA	0.403000													47	68					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52943090	52943090	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943090C>T	ENST00000295213.4	+	7	1278	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	SPATA18_ENST00000419395.2_Missense_Mutation_p.L270F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	302	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAAGGCTGCCCTCTTGTCCCG	0.647000													14	106					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188501	57188501	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:57188501A>G	ENST00000331162.4	-	5	891	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCCTAGTATGAATTACCT	0.328000													15	43					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105172881	105172881	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:105172881C>T	ENST00000369797.3	+	9	1081	c.987C>T	c.(985-987)gcC>gcT	p.A329A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	329	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGTGAGGGCCTGCATCCTTT	0.587000													66	92					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29092288	29092288	+	RNA	SNP	G	G	C	rs140077701	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:29092288G>C	ENST00000569815.1	-	0	227					NR_047567.1																						TTTTGGTGTCGGTTGCTCCGG	0.507000													22	14					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446778	169446778	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:169446778T>C	ENST00000236137.5	-	2	658	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Missense_Mutation_p.Y141C	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	141					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATAAGAGTAATAGGCAATTTC	0.453000													72	121					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93245017	93245017	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:93245017A>G	ENST00000446394.1	+	11	1163	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	HECTD2_ENST00000298068.5_Missense_Mutation_p.M351V|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_Start_Codon_SNP_p.M1V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CATTGATCTCATGGAAGAATA	0.318000													36	105					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190401	58190401	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:58190401A>C	ENST00000302581.2	-	1	385	c.334T>G	c.(334-336)Ttg>Gtg	p.L112V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGGCCAACAAGTAATTTTCC	0.527000													48	141					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584607	7584607	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:7584607A>G	ENST00000379802.3	+	24	7453	c.7112A>G	c.(7111-7113)cAg>cGg	p.Q2371R	DSP_ENST00000418664.2_Missense_Mutation_p.Q1772R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2371	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAGAAGCACAGATCGCAACC	0.443000													74	99					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165827151	165827151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165827151G>T	ENST00000366882.1	-	14	1240	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.Y372*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.Y362*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	362	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCGCGTGGTGTAGCCTGTGT	0.468000													42	74					9.62906e-15	1.12295e-14	1	1	0
IRX1	79192	broad.mit.edu	37	5	3599660	3599660	+	Missense_Mutation	SNP	C	C	A	rs143830823	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:3599660C>A	ENST00000302006.3	+	2	650	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCAAGGACCAGGAAGATGG	0.622000													77	120					6.06247e-24	7.65409e-24	1	1	0
ZNF366	167465	broad.mit.edu	37	5	71756185	71756185	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:71756185A>T	ENST00000318442.5	-	2	1629	c.1139T>A	c.(1138-1140)cTg>cAg	p.L380Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGTCTCTTCAGCTGGGCCAA	0.632000													37	91					0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	116					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697000													7	28					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71886125	71886125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:71886125C>T	ENST00000258104.3	+	43	5033	c.4756C>T	c.(4756-4758)Cga>Tga	p.R1586*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1617*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1618*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1625*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1624*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1594*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1587*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1607*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1604*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1603*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1608*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1586	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACATTGTCCGAGCATTTGG	0.597000													111	194					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													5	115					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904957	37904957	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:37904957G>A	ENST00000316950.6	-	6	1160	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ZNF569_ENST00000392150.2_Silent_p.L42L|ZNF569_ENST00000392149.2_Silent_p.L201L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTCTGATGAGGTCCAAAG	0.358000													58	64					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42978983	42978983	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:42978983C>T	ENST00000485511.1	+	16	1947	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R484W|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R582W|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R558W	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	590					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGCACAAGCGGGCGGAAGA	0.607000													55	208					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7016508	7016508	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:7016508G>C	ENST00000389658.3	-	21	3064	c.2971C>G	c.(2971-2973)Cag>Gag	p.Q991E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	991	Laminin EGF-like 10.				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)	CTACCATCCTGGTAGGCGTAG	0.522000													68	230					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378982	142378982	+	RNA	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:142378982A>T	ENST00000390398.3	+	0	287																											CTCTGAGTCAACAGTCTCCAG	0.478000													90	140					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90448144	90448144	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:90448144C>T	ENST00000369393.3	-	33	4739	c.4624G>A	c.(4624-4626)Gaa>Aaa	p.E1542K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1542K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1542					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCATATTTCTGTAAACCGG	0.383000													7	170					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790186	80790186	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:80790186A>G	ENST00000269394.3	-	2	978	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	49						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTTTTTACAAAGACCATAC	0.438000													104	159					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118583438	118583438	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:118583438T>A	ENST00000336338.5	-	22	3146	c.3081A>T	c.(3079-3081)atA>atT	p.I1027I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1027						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGAGTGGGTATATTTCCCA	0.368000													31	57					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210761381	210761381	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:210761381G>A	ENST00000367010.1	+	10	1410	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	HHAT_ENST00000413764.2_Missense_Mutation_p.G395R|HHAT_ENST00000545154.1_Missense_Mutation_p.G396R|HHAT_ENST00000537898.1_Missense_Mutation_p.G330R|HHAT_ENST00000541565.1_Missense_Mutation_p.G258R|HHAT_ENST00000261458.3_Missense_Mutation_p.G395R|HHAT_ENST00000367009.1_Missense_Mutation_p.G85R|HHAT_ENST00000391905.3_Missense_Mutation_p.G395R|HHAT_ENST00000308852.6_Missense_Mutation_p.G350R|HHAT_ENST00000545781.1_Missense_Mutation_p.G332R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	395					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAACTGGCTGGGAGTCACTGT	0.587000													10	73					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793670	17793670	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:17793670C>T	ENST00000379472.3	+	2	1059	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	KCNC1_ENST00000265969.6_Silent_p.N343N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	343						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCAGCACCAACGAGTTCCTGC	0.617000													22	71					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379255	43379255	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43379255G>T	ENST00000372861.3	+	2	900	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	257						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A257S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCCGAGCGCGCTGCCCGCAC	0.746000													23	45					7.41877e-09	7.91829e-09	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117876980	117876980	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:117876980C>A	ENST00000357099.4	+	6	945	c.772_splice	c.e6+1	p.H258_splice	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Splice_Site_p.H185_splice|ANKRD7_ENST00000265224.4_Splice_Site_p.H238_splice|ANKRD7_ENST00000417525.1_Splice_Site_p.H185_splice			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	238					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGTTTTACTGCGTAAGTGATA	0.388000													104	211					1.32035e-51	1.89e-51	1	1	0
CP	1356	broad.mit.edu	37	3	148925398	148925398	+	Missense_Mutation	SNP	T	T	C	rs150303869	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148925398T>C	ENST00000264613.6	-	5	1050	c.788A>G	c.(787-789)aAt>aGt	p.N263S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTGTATCCATTCACAGCTGT	0.398000													31	99					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490528	128490528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:128490528G>T	ENST00000325888.8	+	32	5650	c.5389G>T	c.(5389-5391)Gag>Tag	p.E1797*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1764*|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1797					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGAAAGGGGAGCTCACAGG	0.602000													112	173					7.80449e-65	1.15183e-64	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	73957509	73957509	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:73957509C>T	ENST00000358602.4	-	29	5952	c.5836G>A	c.(5836-5838)Gtg>Atg	p.V1946M	ANKRD17_ENST00000509867.2_Missense_Mutation_p.V1833M|ANKRD17_ENST00000330838.6_Missense_Mutation_p.V1695M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1946					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGCGAGGCACCATGTGAGGC	0.498000													45	330					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563123	60563123	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:60563123A>T	ENST00000400316.4	+	6	2568	c.787A>T	c.(787-789)Att>Ttt	p.I263F	PHLPP1_ENST00000262719.5_Missense_Mutation_p.I775F	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	775					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ATTTACTGACATTCCCGAAGT	0.403000													42	81					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953178	25953178	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25953178G>A	ENST00000356865.6	-	12	2631	c.2520C>T	c.(2518-2520)agC>agT	p.S840S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	840					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGCTCCTCGCTGTTTTCCA	0.502000													24	94					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49011181	49011181	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:49011181C>T	ENST00000356401.4	+	9	1159	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	ARIH2_ENST00000449376.1_Missense_Mutation_p.R274W|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	274					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGCCACAATCCGGAAATGGCT	0.423000													32	84					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531954	92531954	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:92531954C>A	ENST00000298047.6	+	9	5792	c.5775C>A	c.(5773-5775)ggC>ggA	p.G1925G	FAT3_ENST00000525166.1_Silent_p.G1775G|FAT3_ENST00000409404.2_Silent_p.G1925G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1925	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGGAAGGCAGTTTGGATC	0.423000										TCGA Ovarian(4;0.039)			5	57					0.014758	0.0147926	1	1	0
FASTKD2	22868	broad.mit.edu	37	2	207631494	207631494	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:207631494G>T	ENST00000236980.6	+	2	425	c.77G>T	c.(76-78)tGg>tTg	p.W26L	FASTKD2_ENST00000402774.3_Missense_Mutation_p.W26L|FASTKD2_ENST00000403094.3_Missense_Mutation_p.W26L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	26					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCCTTTTTCTGGAACCTTAGA	0.383000													46	79					6.21074e-16	7.38388e-16	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25924782	25924782	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25924782G>T	ENST00000356865.6	-	21	4317	c.4206C>A	c.(4204-4206)gtC>gtA	p.V1402V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1402					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACTCCTCAGGACAGCCTCCC	0.657000													32	101					4.4194e-11	4.83761e-11	1	1	0
CDH24	64403	broad.mit.edu	37	14	23518342	23518342	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23518342C>T	ENST00000397359.3	-	12	2113	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.Q580Q|CDH24_ENST00000487137.2_Silent_p.Q580Q|CDH24_ENST00000267383.5_Silent_p.Q618Q	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	618	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCGTCAGGCTGGCAGCGGC	0.657000													17	23					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656076	12656076	+	Missense_Mutation	SNP	G	G	T	rs149104165	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:12656076G>T	ENST00000425538.1	+	10	1671	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	MYOCD_ENST00000395988.1_Missense_Mutation_p.V395L|MYOCD_ENST00000343344.4_Missense_Mutation_p.V491L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	491	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTCCACGTGTGCACGGA	0.612000													103	35					1.50986e-39	2.07788e-39	1	1	0
RGS17	26575	broad.mit.edu	37	6	153347667	153347667	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:153347667C>T	ENST00000367225.2	-	2	155	c.131G>A	c.(130-132)aGg>aAg	p.R44K	RGS17_ENST00000206262.1_Missense_Mutation_p.R44K			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	44					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTCTTCATTCCTCACAGTGAG	0.403000													62	117					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933853	10933853	+	Splice_Site	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:10933853T>A	ENST00000298232.7	-	16	1339	c.973_splice	c.e16+1	p.T324_splice	TPTE_ENST00000342420.5_Splice_Site_p.T304_splice|TPTE_ENST00000361285.4_Splice_Site_p.T342_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	342	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTATTACCTGTGCCTCCTT	0.323000													64	292					0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133573566	133573566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:133573566G>A	ENST00000372358.5	+	4	359	c.288G>A	c.(286-288)tgG>tgA	p.W96*	EXOSC2_ENST00000372352.3_Nonsense_Mutation_p.W96*|EXOSC2_ENST00000372351.3_Intron|EXOSC2_ENST00000546165.1_Nonsense_Mutation_p.W96*			Q13868	EXOS2_HUMAN	exosome component 2	96	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		AGAAGAGGTGGAAGGTGGAGA	0.517000													43	109					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108955624	108955624	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:108955624C>T	ENST00000375887.4	+	4	683	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.L150F|TNFSF13B_ENST00000542136.1_Intron|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	169					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGTTCCATGGCTTCTCAGCTT	0.348000													21	54					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883950	152883950	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:152883950G>T	ENST00000368764.3	+	2	1741	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	IVL_ENST00000392667.2_Silent_p.L413L			P07476	INVO_HUMAN	involucrin	559					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCAGCCCTGCCCACAAAGG	0.587000													65	109					2.02627e-32	2.71014e-32	1	1	0
ITM2A	9452	broad.mit.edu	37	X	78616959	78616959	+	Silent	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:78616959A>C	ENST00000434584.2	-	4	774	c.438T>G	c.(436-438)ccT>ccG	p.P146P	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Silent_p.P190P	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	190	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CATAAGTTTGAGGCAGATATC	0.348000													24	40					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228786234	228786234	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:228786234C>A	ENST00000309931.2	+	12	1253	c.1170C>A	c.(1168-1170)atC>atA	p.I390I	DAW1_ENST00000545118.1_Silent_p.I375I|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		CTGATGAAATCTTTTCATGTG	0.443000													63	124					1.73933e-33	2.34098e-33	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													8	108					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715262	165715262	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165715262C>A	ENST00000543069.1	-	2	818	c.237G>T	c.(235-237)aaG>aaT	p.K79N	C6orf118_ENST00000230301.8_Missense_Mutation_p.K183N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	183										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCACAGCACCTTCAAGTCGG	0.642000													75	125					2.37984e-18	2.87732e-18	1	1	0
PPP4C	5531	broad.mit.edu	37	16	30093844	30093844	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:30093844G>C	ENST00000279387.7	+	4	358	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PPP4C_ENST00000561610.1_Missense_Mutation_p.E64Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	64					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGACCTCAAAGAGCTGTTCAG	0.537000													51	59					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:69347743T>A	ENST00000260364.5	+	16	2316	c.2015T>A	c.(2014-2016)cTg>cAg	p.L672Q	NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q|NOX5_ENST00000388866.3_Missense_Mutation_p.L690Q|NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q|NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	690					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597000													65	55					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55599309	55599309	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:55599309G>T	ENST00000288135.5	+	17	2532	c.2435G>T	c.(2434-2436)gGt>gTt	p.G812V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	812	Protein kinase.		G -> V (in PBT).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGATTTTGGTCTAGCCAGA	0.393000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				81	121					1.4051e-37	1.91524e-37	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55591201	55591201	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:55591201G>T	ENST00000373965.2	-	31	4491	c.4097C>A	c.(4096-4098)gCa>gAa	p.A1366E	PCDH15_ENST00000395432.2_Missense_Mutation_p.A1322E|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1337E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A970E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1359E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1364E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1359E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1359E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1288E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1366E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1359E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1359					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTGGTCACTGCCTCTGGAGT	0.463000										HNSCC(58;0.16)			41	88					3.38236e-24	4.28298e-24	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16838753	16838753	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:16838753G>A	ENST00000355661.3	-	11	1470	c.1460C>T	c.(1459-1461)cCt>cTt	p.P487L	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P487L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P487L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	487					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTTTCGGGGAGGTGGCGAGGA	0.637000													140	152					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33510534	33510534	+	Missense_Mutation	SNP	C	C	T	rs144530439		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:33510534C>T	ENST00000268876.5	+	19	2565	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	UNC45B_ENST00000591048.1_Missense_Mutation_p.A742V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A742V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A821V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A821V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	823					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGCAGAATGCGGCTGCAGGG	0.587000													4	128					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892175	16892175	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:16892175A>T	ENST00000430580.2	-	27	3904	c.3017T>A	c.(3016-3018)tTt>tAt	p.F1006Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1006	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAATGCATAAAAGGAACTTCC	0.448000													109	4441					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348835	348835	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:348835A>G	ENST00000604971.1	+	4	1306	c.193A>G	c.(193-195)Att>Gtt	p.I65V	DUSP22_ENST00000603453.1_Missense_Mutation_p.I65V|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.I65V|DUSP22_ENST00000344450.5_Missense_Mutation_p.I168V|DUSP22_ENST00000419235.2_Missense_Mutation_p.I168V			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	168	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCCAAAAACATTCTGGGTAA	0.537000													30	167					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89503171	89503171	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:89503171G>A	ENST00000361175.4	+	10	1618	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	PAPSS2_ENST00000427144.2_Missense_Mutation_p.G421S|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G422S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	417					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCCACAATGGCCATGCCCT	0.562000													30	256					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526865	35526865	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526865G>T	ENST00000262878.4	-	14	1785	c.1586C>A	c.(1585-1587)gCa>gAa	p.A529E		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATCCTGATTGCTCTGTTGGG	0.318000													47	75					2.74695e-27	3.56271e-27	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323420	29323420	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:29323420G>A	ENST00000377154.1	-	4	852	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	OR5V1_ENST00000543825.1_Silent_p.L185L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACAAGATCAGCAAAGGGGGG	0.448000													69	110					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544928	192544928	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:192544928C>A	ENST00000367459.3	+	1	72	c.6C>A	c.(4-6)cgC>cgA	p.R2R	RGS1_ENST00000469578.2_Silent_p.R2R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	2					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GCACCATGCGCGCAGCAGCCA	0.443000													62	73					9.61844e-40	1.32797e-39	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23816147	23816147	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23816147C>A	ENST00000264867.2	-	8	1078	c.959G>T	c.(958-960)tGc>tTc	p.C320F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	320	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CACAGTCTTGCAAGAGGACTT	0.488000													84	136					6.71967e-41	9.3075e-41	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72992274	72992274	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:72992274C>A	ENST00000268489.5	-	2	2443	c.1771G>T	c.(1771-1773)Gct>Tct	p.A591S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	591					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A591S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCGTCAGCGAAGTCCAGC	0.542000													55	77					1.11015e-26	1.43116e-26	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72363397	72363397	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:72363397T>C	ENST00000340595.3	+	13	2218	c.2022T>C	c.(2020-2022)taT>taC	p.Y674Y	SLC4A4_ENST00000425175.1_Silent_p.Y718Y|SLC4A4_ENST00000264485.5_Silent_p.Y718Y|SLC4A4_ENST00000351898.6_Silent_p.Y718Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	718						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTAGTCCTTATTTTCCAACCA	0.343000													83	77					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451493	38451493	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:38451493G>C	ENST00000322350.5	+	19	2966	c.2620G>C	c.(2620-2622)Gac>Cac	p.D874H	EGFLAM_ENST00000506135.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D882H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D240H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D17H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D640H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	882	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGGGGAGACAGCCCCAT	0.517000													71	283					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106583	27106583	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27106583C>T	ENST00000324856.7	+	20	6565	c.6194C>T	c.(6193-6195)gCc>gTc	p.A2065V	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1848V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1682V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A393V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2065					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTACACTCGCCAACATCTCG	0.562000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								98	170					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530761	23530761	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23530761C>T	ENST00000262710.1	-	17	3671	c.3344G>A	c.(3343-3345)cGg>cAg	p.R1115Q	ACIN1_ENST00000557515.1_Missense_Mutation_p.R356Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1075Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.R357Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.R388Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.R357Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1102Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1057Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1115	Pro-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTGCAGGGGCCGTGGTATTCC	0.647000													8	23					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32965040	32965040	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:32965040C>T	ENST00000321639.5	+	10	3072	c.2744C>T	c.(2743-2745)tCg>tTg	p.S915L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	915						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCGCCAGCTCGCCCACCTCC	0.701000													19	13					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243456392	243456392	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:243456392G>A	ENST00000366541.3	+	6	664		c.e6-1		SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTTATTTTAGGGAAACATGC	0.343000													78	131					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71174866	71174866	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:71174866G>A	ENST00000373306.4	-	2	965	c.422C>T	c.(421-423)cCt>cTt	p.P141L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	141					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	TGAAAGCCGAGGCTGGAAGGG	0.637000													59	78					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:101200827C>T	ENST00000341267.4	+	5	988	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682000													51	128					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:55221850G>A	ENST00000413439.1	+	0	1415																											AGCTCAGAACGAGGTGGGGCA	0.637000													8	144					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131073208	131073208	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:131073208C>A	ENST00000372890.4	-	7	961	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	TRUB2_ENST00000546104.1_Missense_Mutation_p.G154C|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CATCGGATGCCAGTTATCAGC	0.562000													25	290					3.6726e-16	4.37848e-16	1	1	0
CRB1	23418	broad.mit.edu	37	1	197297664	197297664	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:197297664T>C	ENST00000367400.3	+	2	318	c.183T>C	c.(181-183)aaT>aaC	p.N61N	CRB1_ENST00000538660.1_Silent_p.N61N|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.N61N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	61	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACAGCCAATAATTTGGACA	0.408000													51	77					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132529259	132529259	+	Splice_Site	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:132529259C>T	ENST00000333577.4	+	37	6846	c.6738_splice	c.e37+1	p.P2246_splice	EP400_ENST00000389561.2_Splice_Site_p.P2210_splice|EP400_ENST00000389562.2_Splice_Site_p.P2209_splice|EP400_ENST00000330386.6_Splice_Site_p.P2129_splice|EP400_ENST00000332482.4_Splice_Site_p.P2173_splice			Q96L91	EP400_HUMAN	E1A binding protein p400	2246					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGTCATGCCGGTGAGTGCT	0.547000													73	121					0	0	1	0	0
RNASE7	84659	broad.mit.edu	37	14	21511429	21511429	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:21511429G>A	ENST00000298690.4	+	2	535	c.278G>A	c.(277-279)gGc>gAc	p.G93D	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	93					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAAGAATGGCGATAAAAAC	0.557000													81	150					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965856	22965856	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:22965856G>T	ENST00000374642.3	+	3	898	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	C1QA_ENST00000402322.1_Missense_Mutation_p.A232S	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	232	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCTCTGAGGCCGACAGCGT	0.607000													46	90					1.41504e-22	1.77606e-22	1	1	0
CAMSAP3	57662	broad.mit.edu	37	19	7671400	7671400	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:7671400G>C	ENST00000446248.2	+	4	665	c.564G>C	c.(562-564)gcG>gcC	p.A188A	CAMSAP3_ENST00000160298.4_Silent_p.A188A	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	188	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCAGGAAGCGGCCCAGCGAG	0.711000													8	11					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897989	94897989	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897989C>A	ENST00000289495.5	+	11	2943	c.2727C>A	c.(2725-2727)tcC>tcA	p.S909S	PPP1R9A_ENST00000424654.1_Silent_p.S909S|PPP1R9A_ENST00000340694.4_Silent_p.S909S|PPP1R9A_ENST00000433360.1_Silent_p.S931S|PPP1R9A_ENST00000456331.2_Silent_p.S909S|PPP1R9A_ENST00000433881.1_Silent_p.S909S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTTAGTTCCACAGATGGGG	0.468000										HNSCC(28;0.073)			19	98					7.45023e-12	8.3039e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9068558	9068558	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:9068558A>T	ENST00000397910.4	-	3	19091	c.18888T>A	c.(18886-18888)caT>caA	p.H6296Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6298	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						TTATAGAAGGATGCATTGTGT	0.443000													81	161					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184675	130184675	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:130184675C>T	ENST00000422113.2	-	2	974	c.648G>A	c.(646-648)gtG>gtA	p.V216V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGGCTGGTCCACGGACTTCC	0.692000													28	91					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489140	237489140	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:237489140C>A	ENST00000272928.3	+	2	342	c.32C>A	c.(31-33)cCa>cAa	p.P11Q		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TACTCAGAGCCAGGGAACTTC	0.507000													35	82					1.90571e-15	2.24695e-15	1	1	0
NUP210L	91181	broad.mit.edu	37	1	153973462	153973462	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:153973462G>A	ENST00000368559.3	-	37	5327	c.5256C>T	c.(5254-5256)taC>taT	p.Y1752Y	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1752						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)			CTCTTACAGAGTAAATGGCCA	0.478000													123	216					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208456	58208456	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208456C>G	ENST00000377918.3	+	1	1802	c.1776C>G	c.(1774-1776)acC>acG	p.T592T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAACGACACCGCGGAGCTGC	0.662000													60	65					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447135	10447135	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:10447135T>C	ENST00000326756.3	-	3	1256	c.818A>G	c.(817-819)cAc>cGc	p.H273R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATGATATTGTGCATTTTGTC	0.373000													193	297					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597604	68597604	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:68597604C>A	ENST00000570495.1	+	5	1206	c.914C>A	c.(913-915)aCc>aAc	p.T305N	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.T305N|ZFP90_ENST00000563169.2_Missense_Mutation_p.T305N			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	305					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATGCTCATACCGGAGAGAAA	0.488000													33	105					1.74807e-11	1.92333e-11	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103444452	103444452	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:103444452T>A	ENST00000358392.2	-	34	3026	c.2709A>T	c.(2707-2709)agA>agT	p.R903S	COL11A1_ENST00000512756.1_Missense_Mutation_p.R775S|COL11A1_ENST00000370096.3_Missense_Mutation_p.R891S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R852S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	891	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCTTGCACCTCTTGAACCTC	0.398000													61	104					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201687752	201687752	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:201687752G>A	ENST00000367296.4	+	3	1515	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.K365K|NAV1_ENST00000367300.3_Silent_p.K365K|NAV1_ENST00000367302.1_Silent_p.K378K|NAV1_ENST00000367297.4_Silent_p.K365K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	365					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCAGCAAGCTCAGCCATA	0.647000													140	217					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964895	88964895	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:88964895A>G	ENST00000333190.4	+	4	3208	c.2599A>G	c.(2599-2601)Aaa>Gaa	p.K867E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	867						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTACTTGAATAAAAGCAAGAG	0.428000										HNSCC(36;0.09)			19	130					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51582808	51582808	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:51582808G>T	ENST00000452682.1	+	8	883	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	NCOA4_ENST00000438493.1_Missense_Mutation_p.G211C|NCOA4_ENST00000443446.1_Missense_Mutation_p.G195C|NCOA4_ENST00000414907.2_Missense_Mutation_p.G29C|NCOA4_ENST00000344348.6_Missense_Mutation_p.G195C|NCOA4_ENST00000374082.1_Missense_Mutation_p.G195C|NCOA4_ENST00000430396.2_Missense_Mutation_p.G95C|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.G195C	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	195					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTCAGCATCCGGTATTGTAGC	0.478000			T	RET	papillary thyroid								41	49					4.01765e-15	4.69824e-15	1	1	0
LOC100128164	100128164	broad.mit.edu	37	3	169664252	169664252	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:169664252C>A	ENST00000483289.2	-	0	3042				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GGAGAGTCCTCCTGAGTGGCA	0.527000													68	73					5.26073e-25	6.74129e-25	1	1	0
GPR128	84873	broad.mit.edu	37	3	100352189	100352189	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:100352189T>C	ENST00000273352.3	+	4	683	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGGAAATTGCAATGAAAA	0.408000													5	70					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25961899	25961899	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25961899G>T	ENST00000356865.6	-	9	1865	c.1754C>A	c.(1753-1755)tCc>tAc	p.S585Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	585					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGATCCGGGGACGTGACGAC	0.587000													43	204					4.00472e-15	4.69594e-15	1	1	0
FCGR2A	2212	broad.mit.edu	37	1	161480736	161480736	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:161480736G>A	ENST00000271450.6	+	5	770	c.732G>A	c.(730-732)aaG>aaA	p.K244K	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.K243K	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	244						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGGAAAAAGCGGATTTCAG	0.522000													72	539					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538808	47538808	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:47538808A>G	ENST00000273859.3	+	9	1518	c.1249A>G	c.(1249-1251)Att>Gtt	p.I417V	ATP10D_ENST00000504445.1_Missense_Mutation_p.I402V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	417					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATGGATTCTATTGTTCAGTG	0.393000													24	44					0	0	1	0	0
MIR450A1	554214	broad.mit.edu	37	X	133674401	133674401	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:133674401G>T	ENST00000362262.1	-	0	60					NR_029962.1																						CATGCAAAATGTTCCCAATAT	0.343000													17	36					4.14922e-12	4.63672e-12	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52943089	52943089	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943089C>A	ENST00000295213.4	+	7	1277	c.903C>A	c.(901-903)gcC>gcA	p.A301A	SPATA18_ENST00000419395.2_Silent_p.A269A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	301	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCAAGGCTGCCCTCTTGTCCC	0.652000													15	104					6.72482e-11	7.34241e-11	1	1	0
GPR158	57512	broad.mit.edu	37	10	25464376	25464376	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCTTACTCCTCTGCCTCC	0.602000													44	118					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485339	97485339	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:97485339C>A	ENST00000376705.2	+	2	1327	c.1303C>A	c.(1303-1305)Cgg>Agg	p.R435R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	435						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCAGAAGCGGCGGGAGGAGCG	0.597000													96	121					1.16068e-44	1.62343e-44	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138160345	138160345	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:138160345G>T	ENST00000302763.7	+	6	805	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239S|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	239					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATAAGGCCAACAGGGA	0.567000													60	91					1.93748e-29	2.53591e-29	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606258	1606258	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:1606258G>T	ENST00000382171.2	-	1	255	c.222C>A	c.(220-222)ggC>ggA	p.G74G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	74	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCAGAAG	0.677000													94	325					9.17388e-59	1.34466e-58	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52864970	52864970	+	Nonsense_Mutation	SNP	G	G	C	rs11540289	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:52864970G>C	ENST00000252250.6	-	5	1070	c.1023C>G	c.(1021-1023)taC>taG	p.Y341*		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	341	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAATCTCCTCGTATTGGGCCT	0.572000													282	414					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603068	53603068	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:53603068G>T	ENST00000219022.2	+	1	175	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	33	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCCCAGCCCCGGCTTCAGCTC	0.607000													150	193					8.57268e-76	1.28741e-75	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206610339	206610339	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:206610339G>T	ENST00000414007.1	+	11	1160	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	527					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R387L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GGAATTTTCCGGGTGTCAGGA	0.403000													96	167					1.39607e-43	1.93999e-43	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152655151	152655151	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:152655151G>T	ENST00000367255.5	-	77	13387	c.12786C>A	c.(12784-12786)aaC>aaA	p.N4262K	SYNE1_ENST00000423061.1_Missense_Mutation_p.N4191K|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4127K|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4262K|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4191K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4262					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)		ACCTGGCCAAGTTATCCCATT	0.388000										HNSCC(10;0.0054)			128	231					9.27386e-72	1.383e-71	1	1	0
USP8	9101	broad.mit.edu	37	15	50788043	50788043	+	Splice_Site	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:50788043A>T	ENST00000433963.1	+	18	3158		c.e18-1		USP8_ENST00000396444.3_Splice_Site|USP8_ENST00000425032.3_Splice_Site|USP8_ENST00000307179.4_Splice_Site|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTTTATTTCCAGGCTGATAAT	0.323000													25	27					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237711838	237711838	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:237711838A>T	ENST00000366574.2	+	26	3331	c.3014A>T	c.(3013-3015)aAt>aTt	p.N1005I	RYR2_ENST00000542537.1_Missense_Mutation_p.N989I|RYR2_ENST00000360064.6_Missense_Mutation_p.N1003I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1005	4 X approximate repeats.				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)			AATGCACATAATGTGTGGGCG	0.483000													15	64					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778023	110778023	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:110778023T>C	ENST00000368919.3	-	2	317	c.251A>G	c.(250-252)gAt>gGt	p.D84G	SLC22A16_ENST00000456137.2_Missense_Mutation_p.D84G|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D84G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	84					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CGTAACATAATCTTTCTGGCC	0.493000													92	323					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													12	160					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028057	84028057	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:84028057G>C	ENST00000280241.8	-	1	131	c.132C>G	c.(130-132)ctC>ctG	p.L44L	DLG2_ENST00000398301.2_Silent_p.L44L|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACTGTACCCGAGCCCCTGAC	0.642000													62	276					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371758	216371758	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216371758G>T	ENST00000366943.2	-	18	4366	c.3980C>A	c.(3979-3981)aCt>aAt	p.T1327N	USH2A_ENST00000366942.3_Missense_Mutation_p.T1327N|USH2A_ENST00000307340.3_Missense_Mutation_p.T1327N|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1327	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCAAGCCAGTGATGGTTGT	0.448000										HNSCC(13;0.011)			84	149					3.23364e-46	4.53769e-46	1	1	0
FNTB	2342	broad.mit.edu	37	14	65511078	65511078	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:65511078G>A	ENST00000246166.2	+	9	1106	c.872G>A	c.(871-873)cGc>cAc	p.R291H	CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.R47H|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.R325H|CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.R245H|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTTCAGGGCCGCTGCAACAAG	0.592000													31	373					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135893466	135893466	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:135893466G>A	ENST00000264158.8	+	17	1930	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	RAB3GAP1_ENST00000539493.1_Silent_p.L585L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.L629L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	629						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTACACTGCTGCATAATGGAG	0.418000													83	139					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175987	57175987	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57175987T>C	ENST00000554643.1	+	4	892	c.543T>C	c.(541-543)taT>taC	p.Y181Y	HSD17B6_ENST00000555805.1_Silent_p.Y181Y|HSD17B6_ENST00000555159.1_Silent_p.Y181Y|HSD17B6_ENST00000322165.1_Silent_p.Y181Y|HSD17B6_ENST00000554150.1_Silent_p.Y181Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	181					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTCCAAGTATGGAGTGGAAG	0.423000													57	89					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167779	185167779	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:185167779A>T	ENST00000265026.3	+	6	1436	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	MAP3K13_ENST00000535426.1_Missense_Mutation_p.N224Y|MAP3K13_ENST00000424227.1_Missense_Mutation_p.N368Y|MAP3K13_ENST00000446828.1_Missense_Mutation_p.N161Y|MAP3K13_ENST00000443863.1_Missense_Mutation_p.N224Y	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	368	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTGGAAGCAACAGCCTCCA	0.453000													110	96					0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6698621	6698621	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:6698621G>A	ENST00000296370.3	+	2	1004	c.138_splice	c.e2-1	p.S47_splice	S100P_ENST00000513778.1_3'UTR	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	47	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CTCCTCTAGAGTGGAAAAGAC	0.567000													25	570					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611319	79611319	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:79611319A>G	ENST00000261205.4	+	4	677	c.20A>G	c.(19-21)cAt>cGt	p.H7R	SYT1_ENST00000552744.1_Missense_Mutation_p.H7R|SYT1_ENST00000457153.2_Missense_Mutation_p.H7R|SYT1_ENST00000393240.3_Missense_Mutation_p.H7R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	7					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAGAGTCACCATGAGGCCCTG	0.537000													56	85					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28196205	28196205	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:28196205C>A	ENST00000302326.4	-	1	1281	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	109							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGGGGTGATGCTGGTGGGGAT	0.721000			T	ETV6	"""AML, meningioma"""								7	66					5.18039e-06	5.39467e-06	1	1	0
SIDT1	54847	broad.mit.edu	37	3	113320475	113320475	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:113320475C>A	ENST00000264852.4	+	11	1812	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SIDT1_ENST00000393830.3_Missense_Mutation_p.S362R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	362						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTGCTGCCAGCACACCCGAAG	0.418000													29	29					2.65835e-16	3.17813e-16	1	1	0
USP25	29761	broad.mit.edu	37	21	17197371	17197371	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:17197371G>T	ENST00000285681.2	+	12	1664	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R432M|USP25_ENST00000400183.2_Missense_Mutation_p.R432M			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	432					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTACAACAAAGGCTAGAAAGG	0.308000													10	81					0.000673444	0.000684641	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555770	125555770	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:125555770T>A	ENST00000431078.1	+	19	3451	c.3087T>A	c.(3085-3087)atT>atA	p.I1029I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1029	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCAGCTATTTACACAGATT	0.438000													28	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566302	179566302	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:179566302G>T	ENST00000589042.1	-	110	30775	c.30551C>A	c.(30550-30552)tCc>tAc	p.S10184Y	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S9867Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8940Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9867	Glu-rich.						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)			TGGAACTCTGGAGTCAGGAAT	0.418000													35	79					3.76114e-14	4.36251e-14	1	1	0
IGHV3-73	28409	broad.mit.edu	37	14	107211183	107211183	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:107211183A>G	ENST00000390636.2	-	0	185																											AGTTTCAGGGACCCCCCAGGC	0.627000													104	228					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228871725	228871725	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:228871725T>A	ENST00000366691.3	+	1	902	c.236T>A	c.(235-237)aTc>aAc	p.I79N		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	79					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACCGAGTACATCCCTACTGCC	0.721000													35	72					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945266	151945266	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:151945266A>G	ENST00000355193.2	-	14	2471	c.2253T>C	c.(2251-2253)gaT>gaC	p.D751D	KMT2C_ENST00000262189.6_Silent_p.D751D					lysine (K)-specific methyltransferase 2C																		GGTATGAAACATCTTTCACAC	0.393000													15	378					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54778552	54778552	+	Silent	SNP	G	G	A	rs144888744	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:54778552G>A	ENST00000391748.1	-	14	1906	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	LILRB2_ENST00000391749.4_Silent_p.T594T|LILRB2_ENST00000434421.1_Silent_p.T478T|LILRB2_ENST00000314446.5_Silent_p.T593T|LILRB2_ENST00000391746.1_3'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	594					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGATGGCCAGGGTGGCGTAGA	0.617000													8	110					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258532	86258532	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:86258532C>G	ENST00000263857.6	-	30	4877	c.4499G>C	c.(4498-4500)cGc>cCc	p.R1500P	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1500					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGGACCCGGCGCTCCATGGC	0.677000													60	387					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1													p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													4	96					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763758	14763758	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14763758G>T	ENST00000358984.4	+	7	1074	c.894G>T	c.(892-894)ttG>ttT	p.L298F	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L298F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	298										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTGAAAGCTTGCTGGAAAAAA	0.483000													119	46					5.97981e-71	8.88666e-71	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													11	321					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189760	124189760	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:124189760C>A	ENST00000357438.2	-	1	424	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGAAGGTAGCCTTCTGCAATT	0.408000													30	71					2.12542e-12	2.38136e-12	1	1	0
IRAK3	11213	broad.mit.edu	37	12	66638788	66638788	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:66638788C>A	ENST00000261233.4	+	10	1568	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	IRAK3_ENST00000457197.2_Missense_Mutation_p.L322M	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	383	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATATCCAGCTGGTAAGAAT	0.363000													60	109					2.44813e-32	3.26418e-32	1	1	0
CXCL12	6387	broad.mit.edu	37	10	44880407	44880407	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:44880407A>G	ENST00000374429.2	-	1	133	c.47T>C	c.(46-48)cTc>cCc	p.L16P	CXCL12_ENST00000395793.3_Missense_Mutation_p.L16P|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000395794.2_Missense_Mutation_p.L16P|CXCL12_ENST00000343575.6_Missense_Mutation_p.L16P|CXCL12_ENST00000395795.4_Missense_Mutation_p.L16P|CXCL12_ENST00000374426.2_Missense_Mutation_p.L16P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	16					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	GCTGAGGCAGAGCGCGGTCAG	0.781000													6	9					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94700544	94700544	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:94700544A>G	ENST00000371552.4	+	13	1287	c.1258A>G	c.(1258-1260)Aat>Gat	p.N420D	EXOC6_ENST00000260762.6_Missense_Mutation_p.N425D|EXOC6_ENST00000443748.2_Missense_Mutation_p.N322D|EXOC6_ENST00000371547.4_Missense_Mutation_p.N441D	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	425					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGACCAATACAATGAAACACT	0.323000													7	44					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50451655	50451655	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:50451655G>C	ENST00000442544.2	+	5	1516	c.900G>C	c.(898-900)gtG>gtC	p.V300V	DCC_ENST00000412726.1_Silent_p.V148V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	300	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCAATGTGACAGATGATG	0.378000													93	105					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:126337709G>T	ENST00000394329.3	+	6	6963	c.6950G>T	c.(6949-6951)gGa>gTa	p.G2317V	FAT4_ENST00000335110.5_Missense_Mutation_p.G615V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413000													172	83					4.39862e-68	6.51421e-68	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135106967	135106967	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:135106967G>T	ENST00000428680.2	-	3	589	c.310C>A	c.(310-312)Cgt>Agt	p.R104S	CNOT4_ENST00000361528.4_Missense_Mutation_p.R104S|CNOT4_ENST00000356162.4_Missense_Mutation_p.R104S|CNOT4_ENST00000451834.1_Missense_Mutation_p.R104S|CNOT4_ENST00000414802.1_Missense_Mutation_p.R104S|CNOT4_ENST00000541284.1_Missense_Mutation_p.R104S|CNOT4_ENST00000423368.2_Missense_Mutation_p.R104S|CNOT4_ENST00000315544.5_Missense_Mutation_p.R104S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	104					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTACGACACGTACACTAGCC	0.378000													67	135					2.26907e-38	3.1127e-38	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144892747	144892747	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:144892747G>A	ENST00000356994.2	-	13	1438	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P397S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P478S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	478	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTCGCTGGGGTGAGGTGTG	0.667000													245	465					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116122898	116122898	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:116122898C>A	ENST00000374183.4	+	3	451	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	138					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAAGAGGAGCGGGCCCACCA	0.612000													3	33					0.00024832	0.000254261	1	1	0
NRG1	3084	broad.mit.edu	37	8	32621347	32621347	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:32621347G>A	ENST00000338921.4	+	13	1891	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000519301.1_Silent_p.S400S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.S450S|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000405005.2_Silent_p.S450S|NRG1_ENST00000287845.5_Silent_p.S421S			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S455S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCCCCTTCGGAAATGTCTC	0.562000													49	363					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989245	125989245	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:125989245A>G	ENST00000319286.5	+	3	889	c.735A>G	c.(733-735)gaA>gaG	p.E245E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AACCATATGAATGTTCTGTCT	0.448000										HNSCC(60;0.17)			103	120					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897988	94897988	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897988C>G	ENST00000289495.5	+	11	2942	c.2726C>G	c.(2725-2727)tCc>tGc	p.S909C	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S909C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S931C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S909C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGTTAGTTCCACAGATGGG	0.473000										HNSCC(28;0.073)			21	98					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075021	67075021	+	Splice_Site	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:67075021G>T	ENST00000308127.4	+	7	782	c.602_splice	c.e7-1	p.A202_splice	SSH3_ENST00000308298.7_Splice_Site_p.A202_splice|SSH3_ENST00000376757.5_Splice_Site_p.A202_splice|SSH3_ENST00000532181.1_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	202					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTCTCAGGGCCACACTCCA	0.642000													31	80					1.99505e-19	2.46076e-19	1	1	0
MACF1	23499	broad.mit.edu	37	1	39889837	39889837	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:39889837G>T	ENST00000564288.1	+	61	17064	c.16287G>T	c.(16285-16287)tgG>tgT	p.W5429C	MACF1_ENST00000545844.1_Missense_Mutation_p.W3367C|MACF1_ENST00000289893.4_Missense_Mutation_p.W3869C|MACF1_ENST00000567887.1_Missense_Mutation_p.W5466C|MACF1_ENST00000317713.7_Missense_Mutation_p.W3367C|MACF1_ENST00000361689.2_Missense_Mutation_p.W3367C|MACF1_ENST00000539005.1_Missense_Mutation_p.W3346C|MACF1_ENST00000372915.3_Missense_Mutation_p.W5434C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5434					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTAGATGGACTGAACTAC	0.443000													44	75					2.47872e-24	3.14805e-24	1	1	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					12	123					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173478767	173478767	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:173478767T>C	ENST00000367714.3	-	24	3401	c.2979A>G	c.(2977-2979)atA>atG	p.I993M	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	993					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GCTTTAGCCATATTTTATATT	0.353000													14	32					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94953716	94953716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94953716G>T	ENST00000222381.3	-	1	303	c.72C>A	c.(70-72)taC>taA	p.Y24*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	24					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CAACTTACTGGTAAGAAGACT	0.577000													26	51					2.12542e-12	2.38136e-12	1	1	0
DPP4	1803	broad.mit.edu	37	2	162894822	162894822	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894822C>A	ENST00000360534.3	-	8	1163	c.603G>T	c.(601-603)tgG>tgT	p.W201C		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTTCATAAACCCAGTCAGTTA	0.279000													9	52					1.33987e-11	1.478e-11	1	1	0
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338000								Other conserved DNA damage response genes					8	34					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420335	216420335	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216420335C>T	ENST00000366943.2	-	13	2787	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	USH2A_ENST00000366942.3_Missense_Mutation_p.G801R|USH2A_ENST00000307340.3_Missense_Mutation_p.G801R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	801	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAGGGATCCAGCTGTGTCA	0.468000										HNSCC(13;0.011)			78	144					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231538	21231538	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:21231538A>G	ENST00000233242.1	-	26	8329	c.8202T>C	c.(8200-8202)ccT>ccC	p.P2734P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTGAAGGTCAGGAACTTGAA	0.418000													15	481					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221625	5221625	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221625G>C	ENST00000321255.1	-	1	305	c.306C>G	c.(304-306)agC>agG	p.S102R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAATCCAAGCTGATCTCTC	0.522000													42	40					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220290457	220290457	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:220290457G>A	ENST00000373960.3	+	8	1447	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	454	Tail.		R -> W (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments).		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCGAGACACGGGATGGGGAG	0.567000													12	17					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692983	40692983	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:40692983C>T	ENST00000298910.7	+	25	3478	c.3420C>T	c.(3418-3420)caC>caT	p.H1140H	LRRK2_ENST00000343742.2_Silent_p.H1140H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1140					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTAAGAACCACATTTCATCCC	0.388000													52	236					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958826	25958826	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25958826G>A	ENST00000356865.6	-	10	2450	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	780					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGTACCTGAAGAGCAGGGCTG	0.567000													25	29					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141457818	141457818	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141457818C>A	ENST00000389484.3	-	41	7771		c.e41+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGTACTTACTTTCAACAAT	0.313000										TSP Lung(27;0.18)			37	54					6.53348e-20	8.12886e-20	1	1	0
DCST1	149095	broad.mit.edu	37	1	155023225	155023225	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155023225G>A	ENST00000295542.1	+	17	2098	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M	DCST1_ENST00000423025.2_Missense_Mutation_p.V643M	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	668						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGCGAGGCCGTGTACTGCTG	0.697000											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	47					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48127716	48127716	+	Splice_Site	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:48127716C>T	ENST00000244043.4	-	9	1236	c.1206_splice	c.e9-1	p.V403_splice	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	403					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TATTTAAATACCTGAAATAGG	0.433000													32	59					0	0	1	0	0
DDX11L1	100287102	broad.mit.edu	37	1	13417	13418	+	RNA	INS	-	-	GAGA			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:13417_13418insGAGA	ENST00000456328.2	+	0	665_666					NR_046018.2|NR_051986.1																						TCCACCACCCCGAGATCACATT	0.559													7	72	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27878425	27878425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27878425delC	ENST00000374011.2	-	6	1170	c.202delG	c.(202-204)acfs	p.D68fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.D68fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	68	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGCTGGGGTCCCGGCGTGGG	0.751													24	111	---	---	---	---					
TSPAN2	10100	broad.mit.edu	37	1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418													7	293	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143213045	143213046	+	RNA	INS	-	-	AA			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:143213045_143213046insAA	ENST00000438000.1	+	0	59																											cagaaaaaaacaaacaaacaaa	0.406													27	72	---	---	---	---					
ZNF804A	91752	broad.mit.edu	37	2	185803442	185803462	+	In_Frame_Del	DEL	GCTGCAGCTGCTGCAGCTGCA	GCTGCAGCTGCTGCAGCTGCA	-	rs112183442	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:185803442_185803462delGCTGCAGCTGCTGCAGCTGCA	ENST00000302277.6	+	4	3913_3933	c.3319_3339delGCTGCAGCTGCTGCAGCTGCA	c.(3319-3339)del	p.AAAAAAA1107del		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagcagcacgctgcagctgctgcagctgcagctgcagccg	0.538													23	227	---	---	---	---					
RAD54L2	23132	broad.mit.edu	37	3	51669721	51669721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:51669721delG	ENST00000409535.1	+	9	1380	c.1255delG	c.(1255-1257)gtfs	p.G419fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.G113fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	419	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ATTTGCCACAGGTAGACCGAA	0.517													26	34	---	---	---	---					
DZIP3	9666	broad.mit.edu	37	3	108394684	108394685	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:108394684_108394685delTG	ENST00000361582.3	+	25	2975_2976	c.2745_2746delTG	c.(2743-2748)attgfs	p.IV915fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.IV915fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	915					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAATGCCATTGTGGCAGATGT	0.371													13	54	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													7	250	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													7	245	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195398141	195398141	+	RNA	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:195398141delG	ENST00000445430.1	+	0	1058																											GTGGTGTCTCGGTGGATGACT	0.577													41	186	---	---	---	---					
ATP8A1	10396	broad.mit.edu	37	4	42448632	42448632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:42448632delC	ENST00000381668.5	-	31	3157	c.2926delG	c.(2926-2928)atfs	p.D976fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.D961fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	976					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGCAGATAATCCGAGGTTTTC	0.388													32	66	---	---	---	---					
FAM13A	10144	broad.mit.edu	37	4	89660260	89660261	+	Frame_Shift_Ins	INS	-	-	GTTCG			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:89660260_89660261insGTTCG	ENST00000264344.5	-	20	2689_2690	c.2482_2483insCGAAC	c.(2482-2484)gcafs	p.A828fs	FAM13A_ENST00000503556.1_Frame_Shift_Ins_p.A488fs|FAM13A_ENST00000395002.2_Frame_Shift_Ins_p.A502fs|FAM13A_ENST00000513837.1_Frame_Shift_Ins_p.A474fs|FAM13A_ENST00000508369.1_Frame_Shift_Ins_p.A502fs|FAM13A_ENST00000511976.1_Frame_Shift_Ins_p.A414fs	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	828					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATCACCTGCCGTTCGTTCTTT	0.490													16	275	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaa>ga	p.EYDRL462del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			38	74	---	---	---	---					
PCDHA7	56141	broad.mit.edu	37	5	140216084	140216085	+	Frame_Shift_Ins	INS	-	-	A	rs138671187		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140216084_140216085insA	ENST00000525929.1	+	1	2116_2117	c.2116_2117insA	c.(2116-2118)ggtfs	p.G706fs	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Frame_Shift_Ins_p.G706fs|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTGTCCAGT	0.619													117	195	---	---	---	---					
QKI	9444	broad.mit.edu	37	6	163899920	163899920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:163899920delA	ENST00000361752.3	+	3	945	c.394delA	c.(394-396)aafs	p.K134fs	QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	134	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AATGAGGGATAAAAAAAAGGT	0.363													7	160	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													12	11	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:100482040_100482042delAGG	ENST00000388793.4	+	7	1029_1031	c.809_811delAGG	c.(808-813)cag>c	p.QE270del	SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	270	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													7	82	---	---	---	---					
TRBV7-1	28597	broad.mit.edu	37	7	142032037	142032037	+	RNA	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:142032037delC	ENST00000547918.2	+	0	32																											CCTGACCCTGCCATGGGCACA	0.567													30	59	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													7	196	---	---	---	---					
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-	rs3830296		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:69465988_69465990delGAG	ENST00000227507.2	+	5	1053_1055	c.826_828delGAG	c.(826-828)del	p.E280del		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			8	958	---	---	---	---					
GRIK4	2900	broad.mit.edu	37	11	120776131	120776131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:120776131delG	ENST00000527524.2	+	13	1692	c.1405delG	c.(1405-1407)ggfs	p.G469fs	GRIK4_ENST00000438375.2_Frame_Shift_Del_p.G469fs			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	469					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G469W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCGCCTGGTTGGGGATGGCGT	0.597													162	194	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	580	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													20	509	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:123794283delT	ENST00000420886.2	-	25	3415	c.3416delA	c.(3415-3417)atfs	p.N1139fs	SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388													8	266	---	---	---	---					
SCFD1	23256	broad.mit.edu	37	14	31112596	31112596	+	Frame_Shift_Del	DEL	T	T	-	rs35121540		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:31112596delT	ENST00000458591.2	+	7	825	c.598delT	c.(598-600)ttfs	p.F201fs	SCFD1_ENST00000396629.2_Frame_Shift_Del_p.F109fs|SCFD1_ENST00000421551.3_Frame_Shift_Del_p.F142fs|SCFD1_ENST00000544052.2_Frame_Shift_Del_p.F134fs|SCFD1_ENST00000541123.1_Frame_Shift_Del_p.F16fs	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	201				FV -> YG (in Ref. 2; AAD40381 and 4; AAP97146).|FVTLGA -> YGTRGD (in Ref. 2; AAD48586).	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCTCTTCTGCTTTTTTGTTAC	0.338													99	164	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													8	34	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													14	10	---	---	---	---					
RP11-473M20.9	0	broad.mit.edu	37	16	3132095	3132095	+	RNA	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:3132095delC	ENST00000571404.1	-	0	210																											CACACTCAGTCCCCCTGCCTG	0.607													11	17	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													10	251	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578255	7578255	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:7578255delT	ENST00000420246.2	-	6	726	c.594delA	c.(592-594)gafs	p.E198fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E198fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.E198fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.G199fs*48(3)|p.E198_L201>V(1)|p.G67fs*>24(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.G106fs*48(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAATTTCCTTCCACTCGGA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			115	38	---	---	---	---					
LRRC37B	114659	broad.mit.edu	37	17	30376361	30376362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:30376361_30376362insT	ENST00000327564.7	+	10	2766_2767	c.2705_2706insT	c.(2704-2706)tatfs	p.Y902fs	LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.Y824fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.Y836fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.Y793fs|LRRC37B_ENST00000341671.7_Frame_Shift_Ins_p.Y875fs			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	875						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAAACAAATTATATTAATGAGA	0.436													27	60	---	---	---	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													9	94	---	---	---	---					
SNORA70	26778	broad.mit.edu	37	18	3025533	3025533	+	RNA	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:3025533delA	ENST00000516449.1	-	0	31																											ACAACTTCTTAAAAAAAAAAt	0.473													7	135	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	264	---	---	---	---					
R3HDM4	91300	broad.mit.edu	37	19	900092	900097	+	In_Frame_Del	DEL	CGCAGA	CGCAGA	-	rs11880031		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:900092_900097delCGCAGA	ENST00000361574.5	-	5	598_603	c.525_530delTCTGCG	c.(523-531)cga>cg	p.RLR175del	R3HDM4_ENST00000587975.1_In_Frame_Del_p.RLR154del	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	175	Arg-rich.					nucleus	nucleic acid binding										GAGGACGGCTCGCAGACGCCGGCTGA	0.650													15	192	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													7	152	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													7	365	---	---	---	---					
ZNF540	163255	broad.mit.edu	37	19	38102620	38102620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:38102620delA	ENST00000592533.1	+	5	771	c.439delA	c.(439-441)aafs	p.K148fs	ZNF540_ENST00000316433.4_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000343599.5_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Frame_Shift_Del_p.K116fs	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATCGTCTCTAAAAAAATGTC	0.368													37	175	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													9	481	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50921181	50921181	+	Frame_Shift_Del	DEL	C	C	-	rs142223599		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50921181delC	ENST00000440232.2	+	27	3354	c.3301delC	c.(3301-3303)ccfs	p.P1102fs	POLD1_ENST00000595904.1_Frame_Shift_Del_p.P1128fs|POLD1_ENST00000599857.1_Frame_Shift_Del_p.P1102fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1102					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCTTCGGACCCCCTGGACC	0.617								DNA polymerases (catalytic subunits)					13	86	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21396825	21396825	+	RNA	DEL	A	A	-	rs6005351	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:21396825delA	ENST00000450652.1	+	0	147				P2RX6P_ENST00000439119.1_RNA																							CCCTGTCCCCACGTAAGGCAG	0.537													2	4	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41566476	41566478	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:41566476_41566478delTCC	ENST00000263253.7	+	27	5572_5574	c.4353_4355delTCC	c.(4351-4356)cat>ca	p.HP1451del	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1451					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACCAG	0.429			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				109	144	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)caa>ca	p.QQ178del	TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													7	263	---	---	---	---